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
RS1221030255 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1221031683 ASXL1 Health Risk Pathogenic Microcephaly, Microcephaly
RS1221042697 GLE1 Health Risk Conflicting classifications of pathogenicity GLE1-related disorder, GLE1-related disorder
RS1221087983 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1221107969 SLC9A1 Health Risk Likely pathogenic Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
RS1221141256 ERI1 Health Risk Pathogenic Hoxha-Aliu syndrome, Hoxha-Aliu syndrome
RS1221156663 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1221167717 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1221168827 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1221172962 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1221183673 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1221185345 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1221197180 LRRC56 Health Risk Pathogenic —
RS1221207399 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1221216215 SOX17 Health Risk Likely pathogenic Vesicoureteral reflux 3, Vesicoureteral reflux 3
RS1221243562 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1221254988 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1221285290 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS1221353422 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS1221359513 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1221366142 KCNJ11 Health Risk Conflicting classifications of pathogenicity —
RS1221367358 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, IFT140-related disorder
RS1221384071 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1221388024 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1221411185 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS1221413854 LRP2 Health Risk Likely pathogenic —
RS1221431599 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1221444922 WDR19 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1221447754 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1221453238 ADAMTSL4 Health Risk Pathogenic —
RS1221462654 KCNQ1 Health Risk Pathogenic Long QT syndrome, Cardiac arrhythmia
RS1221464366 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 5, Meckel-Gruber syndrome
RS1221464948 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1221484522 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1221485925 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1221499782 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS1221516695 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1221526082 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1221534458 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1221546428 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1221548315 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1221618846 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1221627009 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Retinal dystrophy
RS1221632429 ALOX12B Health Risk Conflicting classifications of pathogenicity —
RS1221660946 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1221689111 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1221715098 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related disorder
RS1221723818 PNPT1 Health Risk Pathogenic —
RS1221754175 BFSP2 Health Risk Pathogenic 7 conditions, 7 conditions
RS1221760506 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1221769715 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1221781038 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS1221785647 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1221798183 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1221804567 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1221816681 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1221826146 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1221831901 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS1221837292 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1221864735 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1221876133 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Monogenic hearing loss
RS1221885368 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1221888867 RGS9 Health Risk Pathogenic —
RS1221890051 NSUN2 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS1221909332 AHI1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS1221929408 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1221933494 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1221945564 LCAT Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1221957730 LZTR1 Health Risk Pathogenic —
RS1221971156 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS1221977534 ADGRV1 Health Risk Likely pathogenic —
RS1221986548 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1221992171 TCTN3 Health Risk Likely pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS1222016863 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS1222043566 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1222065184 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1222094213 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1222103354 FLG Health Risk Pathogenic —
RS1222150652 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1222153269 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1222159281 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1222162167 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1222192591 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, 6 conditions
RS1222197005 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1222200565 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1222208628 TAP2 Health Risk Likely pathogenic MHC class I deficiency, MHC class I deficiency
RS1222209649 GLE1 Health Risk Pathogenic —
RS1222222566 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS1222228141 NDUFV1 Health Risk Likely pathogenic —
RS1222240619 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1222259994 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1222261194 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1222304580 ZNF469 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1222305871 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1222318292 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS1222323889 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, FANCI-related disorder
RS1222332332 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1222340958 BMPER Health Risk Likely pathogenic Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS1222361739 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1222398892 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
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