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
RS1163935346 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1163941038 GIGYF1 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1163944246 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1163944538 TMEM94 Health Risk Pathogenic TMEM94-related disorder, Intellectual developmental disorder with cardiac defects and dysmorphic facies
RS116395281 SNORD118 Health Risk Likely pathogenic Leukoencephalopathy with calcifications and cysts, TMEM107-related disorder
RS1163957359 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS116396996 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1163988347 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1164008328 VDR Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Vitamin D-dependent rickets type II with alopecia
RS1164015835 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS116403115 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS1164032252 LARP7;MIR302CHG Health Risk Pathogenic —
RS1164037667 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1164043046 SOX10 Health Risk Likely pathogenic Waardenburg syndrome, Waardenburg syndrome
RS1164047840 OTOF Health Risk Pathogenic —
RS1164061431 UNC80 Health Risk Conflicting classifications of pathogenicity —
RS116407347 F5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital factor V deficiency
RS1164081667 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1164081840 ALDH1A3 Health Risk Pathogenic Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome
RS1164114098 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1164114205 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS1164125645 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS116412774 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS116413101 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS116413527 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS1164154836 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS116415833 VPS13D Health Risk Conflicting classifications of pathogenicity VPS13D-related disorder, Inborn genetic diseases
RS1164171835 COL4A4 Health Risk Pathogenic —
RS1164174059 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1164174661 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Episodic ataxia type 2
RS116417639 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Ovarian serous cystadenocarcinoma
RS116418256 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1164187847 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS116419997 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1164202590 CLCN7 Health Risk Conflicting classifications of pathogenicity —
RS1164210703 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1164215001 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1164227556 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1164241828 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS116424709 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS116424900 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, PDSS1-related disorder
RS1164249697 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1164262350 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1164262919 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS116426399 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS1164266200 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS1164270727 DNASE1L3 Health Risk Pathogenic/Likely pathogenic Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
RS1164271240 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1164296221 PAPPA2 Health Risk Pathogenic —
RS1164325688 SMN1 Health Risk Conflicting classifications of pathogenicity Werdnig-Hoffmann disease, Spinal muscular atrophy
RS1164329850 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1164333482 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1164344738 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS1164367418 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1164384033 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS116441631 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, NECTIN1-related disorder
RS116443969 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS116444428 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS116445114 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1164456060 SI Health Risk Pathogenic —
RS116445698 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Meckel syndrome
RS1164465811 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 28
RS11644721 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS116448158 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia 2
RS1164484724 MAN1B1 Health Risk Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS116450347 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1164505506 COL4A3 Health Risk Pathogenic/Likely pathogenic COL4A3-related disorder, COL4A3-related disorder
RS1164515588 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1164540064 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1164567042 CEP63 Health Risk Pathogenic Seckel syndrome 6, Seckel syndrome 6
RS1164577355 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS116459838 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1164612098 SYNE1 Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1164615393 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS116463039 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1164631127 NCAPD3 Health Risk Likely pathogenic Microcephaly 22, primary
RS1164631131 IFNAR2 Health Risk Pathogenic —
RS116464756 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 105
RS1164656857 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS1164659091 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS116466258 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS116466451 SPATA16 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 6, Spermatogenic failure 6
RS1164665914 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS116466962 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS1164686618 LOXHD1 Health Risk Pathogenic —
RS1164687660 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS116471343 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Retinal dystrophy
RS1164720535 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS1164744935 ACAN Health Risk Conflicting classifications of pathogenicity —
RS1164768642 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS116478064 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN1A-related disorder
RS1164781857 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS1164783105 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1164794062 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS1164812479 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1164813108 NDUFS1 Health Risk Likely pathogenic —
RS1164823749 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS116482376 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS1164844135 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS116484797 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
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