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
RS142672533 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS142672563 AKR1C2 Health Risk Conflicting classifications of pathogenicity —
RS142673316 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS142673376 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS142673853 ANK3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1426740204 GRM6 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS142674505 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426746606 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS142674934 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1426751404 TG Health Risk Pathogenic —
RS1426753271 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142675390 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS142675481 FSIP2 Health Risk Conflicting classifications of pathogenicity FSIP2-related disorder, FSIP2-related disorder
RS142675579 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS1426756976 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS142676206 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1426762153 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS1426763534 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS142677464 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1426776095 ABCG8 Health Risk Likely pathogenic ABCG8-related disorder, ABCG8-related disorder
RS142678284 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS142678486 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1426790644 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS142679083 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS1426811174 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1426814242 JAK2 Health Risk Conflicting classifications of pathogenicity —
RS1426821558 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1426829329 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS142683349 LRP1B Health Risk Conflicting classifications of pathogenicity —
RS1426834688 KCNJ11 Health Risk Conflicting classifications of pathogenicity —
RS1426841589 SMARCE1 Health Risk Pathogenic Coffin-Siris syndrome 5, Coffin-Siris syndrome 5
RS1426841665 HPS6 Health Risk Pathogenic —
RS142684331 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS142684762 ADGRG1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS142686469 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Intellectual disability
RS142686837 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS142687030 ABCA3 Health Risk Conflicting classifications of pathogenicity —
RS1426881729 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS1426882225 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS142688247 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS142688906 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS142689095 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142689325 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS142689742 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS1426898716 TRMU Health Risk Conflicting classifications of pathogenicity —
RS142690258 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS1426905479 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS142690727 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1426910114 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS142692250 SEC24D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426926688 LAMC3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS142692903 CACNA1D Health Risk Conflicting classifications of pathogenicity Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities
RS142692981 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS1426930663 DSP Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Cardiomyopathy
RS142693095 BLVRA Health Risk Conflicting classifications of pathogenicity —
RS142693704 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1426938760 JAG2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS142694017 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS1426944195 NALCN Health Risk Pathogenic NALCN-related disorder, NALCN-related disorder
RS142694767 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, SLCO1B3-related disorder
RS142696207 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS1426962641 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142696359 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS142696529 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1426969421 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1426972011 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS142697365 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS142698246 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS142698837 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS142700351 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS1427003828 FRA10AC1 Health Risk Pathogenic Neurodevelopmental disorder with growth retardation, dysmorphic facies
RS142700542 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS142701178 RAD51 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, RAD51-related disorder
RS1427012032 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1427022532 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142702699 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS142702703 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS142703625 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS142704083 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia
RS1427042125 RBM28 Health Risk Likely pathogenic ANE syndrome, ANE syndrome
RS1427043628 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS142704768 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
RS142704935 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS142704960 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS1427049971 TUBGCP6 Health Risk Pathogenic —
RS142705709 EPB41 Health Risk Conflicting classifications of pathogenicity —
RS142705829 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1427062799 CAVIN1 Health Risk Pathogenic Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS1427063795 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1427066240 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1427073290 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1427085382 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS142708991 CYP7A1 Health Risk Conflicting classifications of pathogenicity CYP7A1-related disorder, CYP7A1-related disorder
RS1427099165 MCPH1 Health Risk Likely pathogenic —
RS142710242 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1427104281 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related disorder
RS1427104456 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1427105205 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142710681 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1427111542 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
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