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
RS1374394802 CPOX Health Risk Pathogenic/Likely pathogenic Hereditary coproporphyria, Hereditary coproporphyria
RS1374395062 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1374397263 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1374400414 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3
RS1374403931 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1374417579 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1374426388 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1374427601 CEP250 Health Risk Likely pathogenic —
RS1374436403 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1374461662 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1374474745 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1374482155 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1374482728 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS1374504617 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Adult hypophosphatasia
RS1374533426 TMPRSS3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1374541235 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1374549534 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS1374558186 OCA2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1374568851 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1374575593 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1374593138 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Abnormality of the nervous system
RS1374628000 CSNK2B Health Risk Likely pathogenic —
RS1374664673 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma-pancreatic cancer syndrome, Hereditary cancer-predisposing syndrome
RS1374665357 KANSL1 Health Risk Pathogenic —
RS1374712964 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1374735618 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS1374768333 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1374769712 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1374788237 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1374789871 COL17A1 Health Risk Likely pathogenic —
RS1374806070 LZTFL1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17
RS1374813094 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS1374832271 SLC26A4 Health Risk Pathogenic Hearing loss, autosomal recessive
RS1374843910 DNAJB13 Health Risk Likely pathogenic —
RS1374856817 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1374883927 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1374893890 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1374925248 SLC52A2 Health Risk Pathogenic Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS1374930303 CEP135 Health Risk Pathogenic —
RS1374937370 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1374971806 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1374980600 MYH7 Health Risk Likely pathogenic Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S
RS1374999656 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS1375012922 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1375036674 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1375040481 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1375045653 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1375058950 BRCA2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1375079650 LAMC2 Health Risk Pathogenic —
RS1375081885 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1375090095 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1375104988 TTN Health Risk Conflicting classifications of pathogenicity —
RS1375157321 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1375178645 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1375183081 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1375190381 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1375216897 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1375222598 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1375225680 CDH23 Health Risk Pathogenic —
RS1375237623 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1375252870 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1375255651 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1375264465 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1375296497 F8 Health Risk Pathogenic —
RS1375304341 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1375309270 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1375310236 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS1375323331 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1375331013 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1375360857 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1375371745 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1375379850 AK2 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1375420170 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1375421660 FANCM Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS1375423378 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS1375432712 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS1375463032 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1375490128 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1375506940 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1375507464 CNGB3 Health Risk Pathogenic Achromatopsia 3, Retinal dystrophy
RS1375515522 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1375541295 ASAH1 Health Risk Pathogenic —
RS1375541923 DSCAM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1375557127 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS1375562480 B3GALT6 Health Risk Likely pathogenic —
RS1375568430 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1375582645 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1375601977 CERS1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
RS1375617541 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1375640377 ZP3 Health Risk Pathogenic Oocyte maturation defect 3, Oocyte maturation defect 3
RS1375646742 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1375656631 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS1375657667 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 5, Cardiovascular phenotype
RS1375707474 TSPEAR Health Risk Pathogenic —
RS1375711161 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS1375713365 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1375721511 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1375723922 BICRA Health Risk Likely pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS1375748581 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1375757476 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
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