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
RS1360284524 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1360293270 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS1360295659 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS1360298758 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1360308012 CAD Health Risk Pathogenic —
RS1360314039 RTN4IP1 Health Risk Likely pathogenic —
RS1360333956 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS1360336411 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1360362529 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1360367329 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1360371971 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1360382612 CFI Health Risk Likely pathogenic Factor I deficiency, Factor I deficiency
RS1360391558 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1360397142 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1360400826 FLNA Health Risk Conflicting classifications of pathogenicity Cardiac valvular dysplasia, X-linked
RS1360401833 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS1360415315 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency
RS1360415486 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1360420006 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1360427319 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1360428152 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS1360446142 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1360462093 VPS33B Health Risk Pathogenic/Likely pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
RS1360472871 HPDL Health Risk Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia
RS1360480518 CLCN7 Health Risk Pathogenic —
RS1360481164 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1360484422 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1360515765 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS1360531002 B3GALT6 Health Risk Pathogenic Al-Gazali syndrome, Al-Gazali syndrome
RS1360564195 ABCA4 Health Risk Pathogenic —
RS1360606073 COL4A4 Health Risk Pathogenic Hematuria, benign familial
RS1360606629 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1360618530 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1360625972 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS1360631927 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS1360639709 PDE6B Health Risk Pathogenic —
RS1360639935 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1360640311 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1360649783 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1360654111 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1360665697 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Johanson-Blizzard syndrome
RS1360689553 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS1360704374 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1360711033 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1360721056 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1360725610 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1360735193 CHM Health Risk Pathogenic —
RS1360780 FKBP5 Health Risk Likely risk allele Antidepressant drug treatment, accelerated response to
RS1360781582 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1360782538 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS1360794165 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS1360796756 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1360807330 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1360809225 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1360829798 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1360832162 CFAP52 Health Risk Conflicting classifications of pathogenicity Situs inversus, Oculomotor apraxia
RS1360840874 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1360863995 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1360871464 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS1360895808 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1360897161 PIEZO2 Health Risk Likely pathogenic —
RS1360901964 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1360902821 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS1360906241 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1360926879 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1360936268 FGFR3 Health Risk Likely pathogenic Achondroplasia, Achondroplasia
RS1360937549 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1360950889 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1360965916 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS1360977917 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1360979536 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1360984931 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1361003749 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1361024832 PATL2 Health Risk Likely pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS1361047594 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1361062364 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1361076729 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1361083258 CACNA1E Health Risk Likely pathogenic —
RS1361089796 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1361123068 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1361137530 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1361137766 HMBS Health Risk Pathogenic —
RS1361155132 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1361155142 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1361160803 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1361161166 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1361189290 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1361197028 P4HTM Health Risk Pathogenic —
RS1361215494 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1361221383 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Lafora disease
RS1361221734 GUF1 Health Risk Conflicting classifications of pathogenicity —
RS1361233426 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1361255226 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS1361270203 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1361283193 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1361284521 CYP17A1 Health Risk Likely pathogenic —
RS1361285566 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS1361289668 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1361298317 USP9X Health Risk Conflicting classifications of pathogenicity —
RS1361324844 CBS Health Risk Pathogenic Homocystinuria, Classic homocystinuria
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