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
RS779645669 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS779647460 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations
RS779647632 STUB1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16
RS779648626 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS779648876 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS779649580 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS779649600 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779650200 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS779651314 PUS1 Health Risk Pathogenic Myopathy, lactic acidosis
RS779651867 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS779652311 TTN Health Risk Conflicting classifications of pathogenicity —
RS779652673 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Developmental and epileptic encephalopathy
RS779653364 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS779653459 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS779653925 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS779654145 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS779654686 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS779656144 GPR179 Health Risk Likely pathogenic —
RS779656809 PI4KA Health Risk Pathogenic PI4KA-related disorder, PI4KA-related disorder
RS779658565 F7 Health Risk Pathogenic/Likely pathogenic Myocardial infarction, susceptibility to
RS779658836 LAMC2 Health Risk Pathogenic —
RS779659084 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS779659299 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS779659766 KMT2C Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 2, KMT2C-related NDD
RS77966199 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS779662045 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS779662050 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS779662442 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS779664281 AGTPBP1 Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS779665170 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS779666160 TDP1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS779666592 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS779666612 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS779667018 PLD1 Health Risk Conflicting classifications of pathogenicity Cardiac valvular defect, developmental
RS779668384 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS779668516 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS779668584 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS779669186 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS779670631 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS779671690 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS779673318 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS779673816 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779674194 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779676205 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia
RS779676461 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS779676706 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS779676937 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS779677560 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS779680371 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS779681550 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS779681799 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS779683214 SLC12A3 Health Risk Likely pathogenic —
RS779683417 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS779684660 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS779685329 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS779685748 PRKCSH Health Risk Pathogenic Polycystic liver disease 1, Autosomal dominant polycystic liver disease
RS779686052 KANSL1 Health Risk Pathogenic/Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS779687095 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS779687673 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome
RS77968867 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Primary dilated cardiomyopathy
RS779688963 SPART Health Risk Likely pathogenic —
RS779690230 ANTXR2 Health Risk Likely pathogenic ANTXR2-related disorder, Familial cancer of breast
RS779690256 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS779691085 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS77969175 SMN1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy, Spinal muscular atrophy
RS779691797 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS779691871 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Smith-Magenis syndrome
RS779692309 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS779692470 ITGB6 Health Risk Pathogenic Adolescent alopeciam dentogingival abnormalitites and intellectual disability, Adolescent alopeciam dentogingival abnormalitites and intellectual disability
RS779692735 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS779692736 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS779694088 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS779694939 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS779696701 IQCB1 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 5, Nephronophthisis
RS779696968 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS779699092 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS779699520 TCAP Health Risk Pathogenic Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS779699696 RFXANK Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency 2
RS779700173 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779701238 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS779701414 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS779701490 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS779701706 PKD1L1 Health Risk Pathogenic —
RS779701784 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS779702016 TGM3 Health Risk Pathogenic Uncombable hair syndrome 2, Uncombable hair syndrome 2
RS779702635 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS779702738 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS779703332 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779703983 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS779706675 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS779706754 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS779707076 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS779707422 FGFR1 Health Risk Pathogenic Encephalocraniocutaneous lipomatosis, Rosette-forming glioneuronal tumor
RS779707723 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS779707997 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS779709646 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS779709777 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS779712562 LIPA Health Risk Pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS779712924 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS779713933 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
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