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
RS1323140900 SYNE2 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1323151304 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1323153568 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS1323156960 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1323162486 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS1323174734 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS1323188207 ATP8B1 Health Risk Pathogenic —
RS1323197030 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1323211736 TET2 Health Risk Pathogenic —
RS1323224189 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1323236841 MLH1 Health Risk Likely pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1323279729 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1323302393 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1323329701 OTOF Health Risk Likely pathogenic —
RS1323334420 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS1323337681 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Inborn genetic diseases
RS1323339153 NEUROD2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 72
RS1323340608 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1323349209 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1323364980 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1323401541 IDH3B Health Risk Pathogenic —
RS1323402380 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1323416354 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1323426610 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS1323430299 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1323449085 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS1323477178 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1323477202 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1323481821 EMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1323488764 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1323512637 ALG8 Health Risk Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS1323513432 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1323514351 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1323529877 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1323542030 COL2A1 Health Risk Likely pathogenic —
RS1323557941 CIB1 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to
RS1323578421 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS1323588796 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1323608032 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1323617205 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1323623166 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1323639275 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS1323647622 IFT140 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome
RS1323663956 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS1323688594 FLAD1 Health Risk Likely pathogenic —
RS1323688837 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1323697541 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1323703791 ADARB1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, microcephaly
RS1323709805 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1323715274 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1323743578 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS1323766758 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1323771026 TJP2 Health Risk Pathogenic —
RS1323772321 COL18A1 Health Risk Pathogenic —
RS1323783290 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1323802111 XYLT1 Health Risk Pathogenic/Likely pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS1323803461 IMPG1 Health Risk Pathogenic —
RS1323805020 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1323823133 CACNA1S Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS1323841528 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1323849138 TWIST1 Health Risk Pathogenic Sweeney-Cox syndrome, Sweeney-Cox syndrome
RS1323862623 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1323878836 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1323881530 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1323896467 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1323923681 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1323938116 PLPBP Health Risk Pathogenic —
RS1323940169 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1323946751 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1323958195 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1323969534 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1323987464 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1323994245 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1323998441 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1323999679 NSDHL Health Risk Conflicting classifications of pathogenicity CK syndrome, Child syndrome
RS1324005699 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1324022945 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1324026596 TBC1D7 Health Risk Pathogenic —
RS1324029062 NRROS Health Risk Pathogenic Seizures, early-onset
RS1324029651 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1324032838 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1324044951 PKLR Health Risk Likely pathogenic —
RS1324062430 ALG9 Health Risk Pathogenic/Likely pathogenic ALG9-associated autosomal dominant polycystic kidney disease, ALG9-associated autosomal dominant polycystic kidney disease
RS1324075885 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1324077575 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1324080523 MYO18B Health Risk Pathogenic —
RS1324081394 SOX9 Health Risk Pathogenic/Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1324088403 EPCAM Health Risk Pathogenic Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy
RS1324100572 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1324125372 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS1324141092 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS1324147964 KANSL1 Health Risk Likely pathogenic —
RS1324157182 COL9A3 Health Risk Conflicting classifications of pathogenicity COL9A3-related disorder, COL9A3-related disorder
RS1324200224 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS1324209174 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS1324211895 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1324229618 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1324238938 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS1324242791 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1324244950 MYO7A Health Risk Pathogenic —
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