SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS201126001 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS201126401 PPARG Health Risk Conflicting classifications of pathogenicity Obesity, PPARG-related familial partial lipodystrophy
RS201126702 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201127154 AP3D1 Health Risk Conflicting classifications of pathogenicity AP3D1-related disorder, AP3D1-related disorder
RS201127191 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS201127379 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201127596 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
RS201127799 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS201127814 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS201128029 USP9X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 99
RS201128110 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis
RS201128198 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS201128237 IL17RA Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS201128366 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS201128796 PMP22 Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Tip-toe gait
RS201128942 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS201128958 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETX-related disorder
RS201129153 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS201129499 MAP2K2 Health Risk Likely pathogenic RASopathy, RASopathy
RS201129559 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201129618 CYP4F22 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS201129878 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS201130283 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS201130629 SAG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201131315 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201131604 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS201131900 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201131924 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS201131946 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS201132251 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS201132307 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS201132338 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS201132615 TRPV4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 11 conditions
RS201133081 TNNI2 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS201133219 ODAD1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia
RS201133395 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Uterine corpus endometrial carcinoma
RS201133630 AAGAB Health Risk Conflicting classifications of pathogenicity —
RS201133637 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS201133749 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS201134182 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201134185 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201134693 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS201134867 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS201134913 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS201135184 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS201135240 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, Acute myeloid leukemia
RS201135424 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS201135624 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Smith-Magenis Syndrome-like
RS201135654 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, Cervical cancer
RS201136122 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS201136367 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS201136391 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS201136510 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201136636 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS201136667 PABIR3 Health Risk Conflicting classifications of pathogenicity —
RS201136777 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS201137000 COL1A2 Health Risk Likely pathogenic —
RS201137071 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS201137087 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS201137146 RSPH3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 32, Inborn genetic diseases
RS201137248 TTN Health Risk Conflicting classifications of pathogenicity —
RS201137255 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS201137386 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS201137503 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS201137518 DRD2 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS201137899 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS201138085 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS201138088 PUS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201138170 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS201138253 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS201138266 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS201138390 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS201138592 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2011386312 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201138924 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Inborn genetic diseases
RS201139273 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201139487 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Neutropenia
RS201139850 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS201140493 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS201140528 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS201140958 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Gastric cancer
RS201141025 FAM47A Health Risk Conflicting classifications of pathogenicity —
RS201141064 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS201141125 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS201141245 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS201141391 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS201141941 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS201141958 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS201142696 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS201143291 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS201143866 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS201144113 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS201144213 OGFR Health Risk Conflicting classifications of pathogenicity —
RS201144431 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, ITPR1-related disorder
RS201144475 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201144590 CFAP45 Health Risk Pathogenic Heterotaxy, visceral
RS201144728 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201145164 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS201145709 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS201146085 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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