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
RS1019861391 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1019876289 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1019888019 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1019893270 ERCC2 Health Risk Pathogenic —
RS1019973830 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1019990431 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Clear cell carcinoma of kidney
RS1020037412 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS10200398 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1020065475 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1020163869 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1020163987 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1020172077 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1020281061 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1020301245 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1020363356 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS1020393626 PSMB8 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS1020402380 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1020441267 TG Health Risk Likely pathogenic —
RS1020453843 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1020457079 SLC26A4 Health Risk Pathogenic Hearing impairment, Hearing impairment
RS1020472849 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1020480721 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1020515752 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1020556677 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1020561347 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1020621286 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1020654485 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer
RS1020717976 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1020747496 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1020757759 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS1020764190 AFG3L2 Health Risk Pathogenic Optic atrophy, Optic atrophy 12
RS1020808836 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1020818778 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1020828510 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS1020832262 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1020838415 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1020872387 DPYS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Dihydropyrimidinase deficiency
RS1020902474 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1020915921 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1021001959 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1021025464 ALG11;ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS1021029193 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1021034246 CYP2U1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1021065870 ALOXE3 Health Risk Pathogenic —
RS1021076058 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1021086003 SMPD1 Health Risk Likely pathogenic —
RS1021087353 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS1021104757 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1021122060 KIF1A;LOC126806583 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS1021128001 CASK Health Risk Likely pathogenic —
RS1021165801 COL7A1 Health Risk Pathogenic —
RS1021186046 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS1021206121 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1021234843 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS1021262669 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1021273983 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Inborn genetic diseases
RS1021280547 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1021282486 MESD Health Risk Pathogenic Osteogenesis imperfecta, type 20
RS1021303606 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1021325325 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1021327099 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1021330566 EARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS1021331909 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1021338595 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1021342807 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1021357430 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1021394339 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1021449471 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1021457619 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS1021462149 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS1021465138 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1021499065 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1021510770 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS1021523079 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1021547035 POT1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Hereditary cancer-predisposing syndrome
RS1021572525 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1021583788 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1021610405 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1021613206 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1021622151 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1021631442 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1021645395 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1021647942 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1021662947 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1021694407 CTR9 Health Risk Conflicting classifications of pathogenicity CTR9-related disorder, Predisposition to Wilms tumor
RS1021713187 CNNM4 Health Risk Pathogenic —
RS1021715434 CFD Health Risk Likely pathogenic Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
RS1021719232 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1021730994 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1021769927 WDR4 Health Risk Likely pathogenic Microcephaly, growth deficiency
RS1021793710 CCDC62 Health Risk Pathogenic Spermatogenic failure 67, Spermatogenic failure 67
RS1021805910 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1021835871 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1021843705 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1021849113 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1021859282 TJP2 Health Risk Pathogenic —
RS1021869760 TET2 Health Risk Pathogenic —
RS1021905098 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1021927212 CNNM2 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS1021942880 CYP11A1 Health Risk Likely pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
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