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
RS1446953320 TMC1 Health Risk Pathogenic —
RS144695607 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS144695853 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS1446965214 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS144697790 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS144697999 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1446982305 ARHGEF18 Health Risk Pathogenic —
RS1446986999 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS144699575 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Monogenic diabetes
RS144699669 GGCX Health Risk Pathogenic —
RS1446997240 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS1447002141 VPS13A Health Risk Pathogenic —
RS144700737 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS144701072 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS144701596 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS1447016347 DOK7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fetal akinesia deformation sequence 1
RS144701688 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS144701796 ALDH7A1 Health Risk Likely pathogenic —
RS144702001 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS1447022229 ACAN Health Risk Pathogenic —
RS144702281 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS144702323 IL12RB1 Health Risk Pathogenic/Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1447023449 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS144702918 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144703247 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, CPT2-related disorder
RS144703991 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS144704092 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS144704250 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS144705277 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS1447055069 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS1447056195 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS144706057 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1447069098 CYP11B1 Health Risk Pathogenic Congenital adrenal hyperplasia, Glucocorticoid-remediable aldosteronism
RS144707485 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS144707871 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1447080385 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS144708108 POU1F1 Health Risk Conflicting classifications of pathogenicity —
RS144708504 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1447092074 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS144709443 UBR4 Health Risk Likely pathogenic Short stature, Short stature
RS144709908 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases
RS144709948 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS144710366 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS144710695 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia
RS144711161 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, DNAH8-related disorder
RS1447117024 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS144711755 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS144711904 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS144712077 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS144712084 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS1447131096 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1447134419 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1447139472 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Retinitis pigmentosa 73
RS144714463 RNF128 Health Risk Conflicting classifications of pathogenicity —
RS144714547 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144714869 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS144714933 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, Uterine corpus endometrial carcinoma
RS144715071 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS1447155539 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS144715822 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS144715956 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS144716013 CENPE Health Risk Conflicting classifications of pathogenicity Microcephaly 13, primary
RS144716190 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS144716263 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS144716297 SON Health Risk Conflicting classifications of pathogenicity SON-related disorder, Intellectual disability
RS144716589 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS144717803 MARVELD2 Health Risk Conflicting classifications of pathogenicity MARVELD2-related disorder, MARVELD2-related disorder
RS144717862 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1447178623 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS144717999 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS144718007 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS144718030 HDAC7 Health Risk Conflicting classifications of pathogenicity —
RS144718274 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS144718603 VAPB Health Risk Conflicting classifications of pathogenicity Adult-onset proximal spinal muscular atrophy, autosomal dominant
RS1447188345 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1447189148 DLL3 Health Risk Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS1447209458 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1447209500 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS144721725 CDT1 Health Risk Conflicting classifications of pathogenicity —
RS144722432 BCOR Health Risk Conflicting classifications of pathogenicity Microphthalmia, syndromic 1
RS144722609 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1447230772 SLC12A3 Health Risk Likely pathogenic —
RS144723215 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS144723510 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS144723656 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS144723817 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1447244591 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1447246696 RBM10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1447249014 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS144725007 CLCNKB Health Risk Likely pathogenic —
RS1447250546 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colon cancer
RS144725456 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS144725473 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS144726669 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS144726953 RTL9 Health Risk Conflicting classifications of pathogenicity —
RS144726977 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS144727134 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS144727170 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS144727222 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS144728108 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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