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
RS1370579526 GATC Health Risk Pathogenic Cardiomyopathy, mitochondrial
RS1370586538 NALCN Health Risk Likely pathogenic —
RS1370586541 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1370598098 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1370639203 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1370654793 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1370683336 PDE6C Health Risk Pathogenic —
RS1370684440 ADGRV1 Health Risk Pathogenic —
RS1370690781 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS1370693832 DYNC1H1 Health Risk Pathogenic DYNC1H1-related disorder, DYNC1H1-related disorder
RS1370694908 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1370702239 CDK13 Health Risk Likely pathogenic —
RS1370709181 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1370721886 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1370785518 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1370805955 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1370852588 ENG Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1370868219 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1370869109 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS1370876304 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1370898196 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS1370913867 KARS1 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS1370937766 B4GALT7 Health Risk Conflicting classifications of pathogenicity Lethal skeletal dysplasia, Ehlers-Danlos syndrome progeroid type
RS1370982012 OPTN Health Risk Likely pathogenic Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS1370989559 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1370999216 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1371008626 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1371022203 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1371032020 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1371059392 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1371067962 ABCC6 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS1371078806 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1371092393 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS1371096605 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1371104950 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1371109456 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1371143729 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1371160062 USH2A Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1371180882 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1371185696 KCNJ11 Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Diabetes mellitus
RS1371200045 TCN2 Health Risk Pathogenic/Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS1371216781 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1371222715 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1371235353 PYCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome
RS1371240619 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1371244150 FZD6 Health Risk Pathogenic Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1
RS1371249361 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS1371262635 USH2A Health Risk Pathogenic —
RS1371291280 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1371295947 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, ANKRD1-related dilated cardiomyopathy
RS1371310644 CNGB3 Health Risk Likely pathogenic —
RS1371323147 EYS Health Risk Pathogenic —
RS1371331693 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1371341017 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, ATM-related disorder
RS1371364232 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1371371699 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1371408968 COL4A4 Health Risk Likely pathogenic —
RS1371445915 ERCC8 Health Risk Pathogenic —
RS1371457965 CDAN1 Health Risk Likely pathogenic —
RS1371462518 AMN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS1371486094 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1371488235 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1371496558 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, GAMT-related disorder
RS1371519471 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS1371527013 COL7A1 Health Risk Likely pathogenic —
RS1371538832 VPS13C Health Risk Likely pathogenic —
RS1371550108 MERTK Health Risk Pathogenic —
RS1371560435 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1371567866 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1371585451 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1371600437 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1371670101 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1371672240 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1371679359 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Acute myeloid leukemia
RS1371700813 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1371718238 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS1371722284 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1371736348 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1371745883 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1371750567 F9 Health Risk Pathogenic F9-related disorder, Thrombophilia
RS1371793191 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS1371798538 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1371805993 RPGRIP1 Health Risk Pathogenic Retinitis pigmentosa, Cone-rod dystrophy 13
RS1371831965 TTN Health Risk Conflicting classifications of pathogenicity —
RS1371841991 LYRM7 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1
RS1371847178 CSF1R Health Risk Likely pathogenic —
RS1371849916 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1371859768 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1371868658 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1371876868 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1371879163 ABCA1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1371887844 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS1371904281 OPTN Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS1371905176 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1371940395 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1371955576 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1371982429 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1372002770 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1372014207 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1372024420 IQCB1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
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