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
RS1042828478 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1042843028 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1042891094 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1042904406 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1042932501 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1043008266 HPS3 Health Risk Pathogenic —
RS1043031572 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1043062 UBA2 Health Risk Conflicting classifications of pathogenicity ACCES syndrome, ACCES syndrome
RS1043139127 CP Health Risk Pathogenic/Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS1043163922 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1043176387 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS1043216324 LAMA1 Health Risk Likely pathogenic —
RS1043225481 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS1043250716 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1043260017 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1043292415 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases
RS1043304361 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS1043352257 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS1043354227 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1043355995 ATR Health Risk Pathogenic —
RS1043378899 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1043381693 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1043384862 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1043405296 AOPEP Health Risk Pathogenic Dystonia 31, Dystonia 31
RS1043412457 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1043413100 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1043416843 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1043417027 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1043425650 C8A Health Risk Pathogenic —
RS1043429291 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1043442244 SLC6A9 Health Risk Conflicting classifications of pathogenicity Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS1043452739 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1043453967 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1043505718 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1043517699 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1043525925 CYP11B1 Health Risk Pathogenic —
RS1043529281 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS1043530261 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1043531053 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1043590599 EVC2 Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1043604336 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, NGLY1-related disorder
RS1043608536 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1043618 HSPA1A Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS1043654062 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1043662739 TEK Health Risk Likely pathogenic —
RS1043668392 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1043679457 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1043681551 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1043716893 CLIC5 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1043718482 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1043792591 MEI1 Health Risk Likely pathogenic —
RS1043800 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS1043850286 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1043865919 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS1043886041 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1043927378 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1043956265 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1043964127 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS1043978096 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1043984708 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis
RS1043996591 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS1044009143 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1044021305 FGFR3 Health Risk Pathogenic Hypochondroplasia, Hypochondroplasia
RS1044033927 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1044065786 MED13 Health Risk Pathogenic —
RS1044072013 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1044089000 GCH1 Health Risk Pathogenic/Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1044102603 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS1044185449 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
RS1044231895 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS1044281109 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1044309736 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1044378926 BRWD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1044396 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1044401463 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1044428455 IPO8 Health Risk Likely pathogenic VISS syndrome, VISS syndrome
RS1044429462 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1044449024 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS1044498 ENPP1 Health Risk Conflicting classifications of pathogenicity Insulin resistance, susceptibility to
RS1044499681 SUCO Health Risk Conflicting classifications of pathogenicity —
RS1044562973 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa
RS1044634464 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1044679782 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1044698498 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1044703733 CTSC Health Risk Pathogenic/Likely pathogenic Periodontitis, aggressive 1
RS1044708169 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1044746171 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS1044765003 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS1044812718 MIP Health Risk Likely pathogenic —
RS1044839219 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1044840059 TYMP Health Risk Pathogenic Inborn genetic diseases, Mitochondrial DNA depletion syndrome 1
RS1044845711 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS1044894207 CSTB Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1044899707 CIC Health Risk Conflicting classifications of pathogenicity —
RS1045014545 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Cowden syndrome 1
RS1045022382 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS1045060319 PABPN1 Health Risk Conflicting classifications of pathogenicity Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1
RS1045063324 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1045070965 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1045076800 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
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