Carrier Status Listing



Disorder

RSID

Low Risk Allele(s)

ACCPN

i5012573

I

ACCPN

i5012575

G

Alpha-1 Antitrypsin Deficiency

rs17580

T

Alpha-1 Antitrypsin Deficiency

rs28929474

C

ARSACS

i5012578

I

Autosomal Recessive Polycystic Kidney Disease

i5000043

A

Autosomal Recessive Polycystic Kidney Disease

i5000045

A

Autosomal Recessive Polycystic Kidney Disease

i5000047

T

Autosomal Recessive Polycystic Kidney Disease

i5012610

I

Autosomal Recessive Polycystic Kidney Disease

i5012612

G

Autosomal Recessive Polycystic Kidney Disease

rs28939383

G

Beta Thalassemia

rs11549407

G

Beta Thalassemia

rs33915217

C

Beta Thalassemia

rs33930165

C

Beta Thalassemia

rs33944208

G

Beta Thalassemia

rs3395057

C

Beta Thalassemia

rs33960103

C

Beta Thalassemia

rs33971440

C

Beta Thalassemia

rs33985472

T

Beta Thalassemia

rs33986703

T

Beta Thalassemia

rs34451549

G

Beta Thalassemia

rs34598529

T

Beta Thalassemia

rs34690599

G

Beta Thalassemia

rs34716011

C

Beta Thalassemia

rs35004220

C

Beta Thalassemia

rs35724775

A

Beta Thalassemia

rs63750783

C

Beta Thalassemia / Sickle Cell Anemia

i3003137

T

Bloom's Syndrome

i4000396

D

Canavan Disease

rs12948217

CT

Canavan Disease

rs28940279

A

Canavan Disease

rs28940574

C

Congenital Disorder of Glycosylation Type 1a

i5012679

C

Congenital Disorder of Glycosylation Type 1a

i5012680

G

Connexin 26-Related Nonsyndromic Sensorineural Hearing Loss

i4000434

I

Connexin 26-Related Nonsyndromic Sensorineural Hearing Loss

i4000435

I

Cystic Fibrosis

i3000001

I

Cystic Fibrosis

i4000291

C

Cystic Fibrosis

i4000292

I

Cystic Fibrosis

i4000294

G

Cystic Fibrosis

i4000296

C

Cystic Fibrosis

i4000297

G

Cystic Fibrosis

i4000299

G

Cystic Fibrosis

i4000300

G

Cystic Fibrosis

i4000301

G

Cystic Fibrosis

i4000305

G

Cystic Fibrosis

i4000306

C

Cystic Fibrosis

i4000307

G

Cystic Fibrosis

i4000308

C

Cystic Fibrosis

i4000309

G

Cystic Fibrosis

i4000311

C

Cystic Fibrosis

i4000313

I

Cystic Fibrosis

i4000314

G

Cystic Fibrosis

i4000315

G

Cystic Fibrosis

i4000316

I

Cystic Fibrosis

i4000317

G

Cystic Fibrosis

i4000318

G

Cystic Fibrosis

i4000319

I

Cystic Fibrosis

i4000320

G

Cystic Fibrosis

i4000321

G

Cystic Fibrosis

i4000322

I

Cystic Fibrosis

i4000323

I

Cystic Fibrosis

i4000324

D

Cystic Fibrosis

i4000325

C

D-Bifunctional Protein Deficiency

i5007145

G

D-Bifunctional Protein Deficiency

i5007146

A

Dihydrolipoamide Dehydrogenase Deficiency

i5003700

G

Factor XI Deficiency

i4000397

G

Factor XI Deficiency

i4000398

G

Factor XI Deficiency

i4000399

T

Familial Dysautonomia

i4000334

A

Familial Dysautonomia

i4000400

C

Familial Hypercholesterolemia Type B

i4000339

G

Familial Hypercholesterolemia Type B

rs12713559

G

Familial Hypercholesterolemia Type B

rs5742904

C

Familial Hyperinsulism (ABCC8-Related)

i5008233

A

Familial Hyperinsulism (ABCC8-Related)

i5012556

I

Familial Hyperinsulism (ABCC8-Related)

i5012558

C

Familial Mediterranean Fever

i4000403

G

Familial Mediterranean Fever

i4000406

T

Familial Mediterranean Fever

i4000407

T

Familial Mediterranean Fever

i4000409

C

Familial Mediterranean Fever

i4000410

C

Familial Mediterranean Fever

rs11466023

G

Familial Mediterranean Fever

rs28940578

C

Familial Mediterranean Fever

rs28940579

A

Familial Mediterranean Fever

rs28940580

C

Familial Mediterranean Fever

rs3743930

C

Fancomi Anemia

i4000336

T

Fancomi Anemia

i4000412

G

Fancomi Anemia

i4000413

I

G6PD Deficiency

rs1050828

C

G6PD Deficiency

rs1050829

T

Gaucher Disease

i4000386

C

Gaucher Disease

i4000415

T

Gaucher Disease

i4000417

D

Gaucher Disease

i4000419

C

Glycogen Storage Disease Type 1a

i3002486

C

Gracile Syndrome

i5012660

A

Hemochromatosis

rs1799945

C

Hemochromatosis

rs1800562

G

Hereditary Fructose Intolerance

i5008215

G

Hereditary Fructose Intolerance

i5012664

G

Hereditary Fructose Intolerance

i5012665

I

Hereditary Fructose Intolerance

rs1800546

C

Hypertrophic Cardiomyopathy

rs36212066

I

LAMB3-Related Junctional Epidermolysis Bullosa

i5012669

G

LAMB3-Related Junctional Epidermolysis Bullosa

i5012671

G

LAMB3-Related Junctional Epidermolysis Bullosa

i5012672

G

Limb-girdle Muscular Dystrophy

rs28933693

C

Limb-girdle Muscular Dystrophy

rs28936383

G

Limb-girdle Muscular Dystrophy

rs28937900

C

Maple Syrup Urine Disease Type 1B

i3002808

G

Maple Syrup Urine Disease Type 1B

i4000422

G

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

i5003116

G

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

i5003117

C

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

i5012755

C

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

i5012758

T

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

i5012759

A

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

i5012760

C

Mucolipidosis IV

i4000425

A

Neuronal Ceroid Lipofuscinosis (CLN5-related)

i5012678

I

Neuronal Ceroid Lipofuscinosis (PPT1-related)

i5012622

T

Neuronal Ceroid Lipofuscinosis (PPT1-related)

i5012623

T

Neuronal Ceroid Lipofuscinosis (PPT1-related)

i5012624

G

Niemann-Pick Disease Type A

i4000381

T

Niemann-Pick Disease Type A

i4000383

I

Niemann-Pick Disease Type A

i4000430

G

Nijmegen Breakage Syndrome

i5012770

I

Pendred Syndrome

i5000002

A

Pendred Syndrome

i5000003

A

Pendred Syndrome

i5000693

G

Pendred Syndrome

i5000696

T

Pendred Syndrome

i5012616

T

Pendred Syndrome

i5012618

A

Phenylketonuria

i3003397

C

Phenylketonuria

i3003398

G

Phenylketonuria

i3003399

G

Phenylketonuria

i3003400

G

Phenylketonuria

i3003401

G

Phenylketonuria

i3003403

T

Phenylketonuria

i3003404

C

Phenylketonuria

i3003405

T

Phenylketonuria

i4000467

C

Phenylketonuria

i4000470

G

Phenylketonuria

i4000472

A

Phenylketonuria

i4000473

G

Phenylketonuria

i4000474

C

Phenylketonuria

i4000475

A

Phenylketonuria

i4000476

G

Phenylketonuria

i4000477

A

Phenylketonuria

i4000478

C

Phenylketonuria

i4000479

G

Phenylketonuria

i4000481

C

Phenylketonuria

rs28934899

C

Phenylketonuria

rs5030841

A

Phenylketonuria

rs5030849

C

Phenylketonuria

rs5030852

C

Phenylketonuria

rs5030853

C

Phenylketonuria

rs5030855

C

Phenylketonuria

rs5030857

G

Phenylketonuria

rs5030858

G

Phenylketonuria

rs5030861

C

Primary Hyperoxaluria Type 2 (PH2)

i5012628

I

Primary Hyperoxaluria Type 2 (PH2)

i5012629

I

Rhizomelic Chondrodysplasia Punctata Type 1

i3002517

T

Salla Disease

i5012634

G

Sjogren-Larsson Syndrome

rs72547571

C

Tay-Sachs Disease

i4000391

D

Tay-Sachs Disease

i4000393

C

Tay-Sachs Disease

i4000436

C

Tay-Sachs Disease

i4000438

C

Tay-Sachs Disease

i4000440

G

Tay-Sachs Disease

i4000442

G

Torsion Dystonia

i4000446

I

TTR-Related Cardiac Amyloidosis

i3002759

G

TTR-Related Familial Amyloid Polyneuropathy

i3002758

G

TTR-Related Familial Amyloid Polyneuropathy

i5004213

A

Tyrosinemia Type I

i5012861

C

Tyrosinemia Type I

i5012862

G

Tyrosinemia Type I

i5012864

G

Tyrosinemia Type I

i5012865

G

Tyrosinemia Type I

i5012867

G

Usher Syndrome Type I (PCDH15-Related)

i5012804

G

Usher Syndrome Type III

i4990151

A

Zellweger Syndrome Spectrum

i5012688

C


If there is a genetic disorder mutation not listed here that you would like to see added, please contact us with the details and we will work to add it.

ADDRESS

  • Address: E. Ramos St., Dewey
    AZ 86327
  • Email: somkardevelopers@gmail.com
  • Website: www.biostatushealth.com
  • Phone: 512-745-1542