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
RS1034583217 KCNC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1034583315 CSNK2A1 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Okur-Chung neurodevelopmental syndrome
RS1034591406 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1034596120 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1034611870 KIDINS220 Health Risk Pathogenic —
RS1034616967 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1034630858 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1034644018 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1034676748 LIPT2 Health Risk Likely pathogenic Encephalopathy, neonatal severe
RS1034684102 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS1034704889 NFKBIA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS1034722602 PHIP Health Risk Pathogenic —
RS1034733261 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1034742794 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, G6PD deficiency
RS1034818403 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1034820850 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1034855385 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1034866440 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1034877221 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS1034908940 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1034932344 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1034934219 VHL Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Von Hippel-Lindau syndrome
RS1034945378 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1034968542 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1034969302 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS1034973830 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS1034981619 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1034994263 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1035003476 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1035024403 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS1035033414 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1035033641 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1035054313 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1035057882 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS1035067325 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1035101172 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS1035139114 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1035139364 AAAS Health Risk Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1035143185 BCL11B Health Risk Conflicting classifications of pathogenicity Immunodeficiency 49, Intellectual developmental disorder with speech delay
RS1035199365 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1035201847 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS1035206433 FOXE3 Health Risk Pathogenic/Likely pathogenic Anterior segment dysgenesis, Congenital primary aphakia
RS1035206645 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1035210606 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1035231480 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1035249096 TRPV4 Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Tip-toe gait
RS1035262201 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1035282627 G6PC3 Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1035305358 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1035318937 BCKDK Health Risk Pathogenic/Likely pathogenic Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS1035326227 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1035337401 RABGAP1L Health Risk Likely pathogenic Cholesteatoma, Cholesteatoma
RS1035343199 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1035373795 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1035374602 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1035389616 SPTA1 Health Risk Pathogenic/Likely pathogenic Pyropoikilocytosis, hereditary
RS1035427075 HPS3 Health Risk Pathogenic —
RS1035427476 BMP1 Health Risk Pathogenic —
RS1035500320 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1035520087 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1035597347 LAMC2 Health Risk Pathogenic —
RS1035631674 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1035700995 KCNT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 57
RS1035718413 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS1035742818 FRRS1L Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 37
RS1035743375 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1035794099 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS1035797449 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS1035839091 UNC80 Health Risk Pathogenic —
RS1035842147 DNHD1 Health Risk Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS1035870470 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1035908319 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1035947105 RFC1 Health Risk Pathogenic Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
RS1035955777 CHST14 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS1036002703 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1036039694 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1036056877 UNC80 Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1036073348 GJB2 Health Risk Conflicting classifications of pathogenicity —
RS1036074195 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1036089094 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, KANSL1-related disorder
RS1036091086 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1036091905 FZD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1036098566 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS1036111786 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1036112313 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS1036125960 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS1036143999 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS1036146396 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1036185928 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1036243378 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS1036328075 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1036333804 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1036339690 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1036363986 NOTCH1 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1036371676 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1036433681 COG7 Health Risk Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1036438114 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1036456922 MDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1036483919 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS1036516188 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
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