SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS927193317 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS927198220 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS927204453 TBX3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS927207558 HPS5 Health Risk Pathogenic —
RS927214297 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS927216336 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS927227725 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS927241903 TOPORS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS927249367 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS927261937 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinal dystrophy
RS927300379 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS927310190 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS927327659 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS927408361 DRC1 Health Risk Pathogenic Spermatogenic failure 80, Primary ciliary dyskinesia
RS927427873 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS927435790 GIMAP5 Health Risk Pathogenic/Likely pathogenic Portal hypertension, noncirrhotic
RS927444249 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS927446955 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS927463788 DOCK11 Health Risk Pathogenic DOCK11 deficiency, Autoinflammatory disease
RS927470089 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS927473035 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome, Schwartz-Jampel syndrome
RS927473472 CWC27 Health Risk Pathogenic —
RS927483438 KCNC1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases
RS927500992 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS927538730 KCNC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS927543047 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS927587368 LAMC3 Health Risk Likely pathogenic —
RS927604495 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS927604763 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS927607049 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS927630499 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS927675372 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS927679423 DARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS927722314 SCN1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 6B, Early-infantile DEE
RS927730167 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS927740391 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS927746681 MED12 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FG syndrome
RS927749691 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS927750682 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS927772349 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS927804920 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS927816752 NBAS Health Risk Pathogenic —
RS927868500 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS927878214 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS927888647 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS927918838 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS927932970 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS927950152 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS927987931 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS928004913 CERKL Health Risk Pathogenic —
RS928007707 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS928041091 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS928051436 DNMT3A Health Risk Pathogenic —
RS928051665 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS928061320 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS928084265 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS928088575 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS928104756 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ectopia lentis 2
RS928148829 XPC Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Inborn genetic diseases
RS928192105 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS928213157 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS928224285 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS9282543 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS9282547 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS9282593 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Congenital bile acid synthesis defect 4
RS9282603 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS9282652 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CDH1-related disorder
RS9282684 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS9282723 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS9282730 IGFALS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS9282757 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Leprechaunism syndrome
RS9282796 MYO5A Health Risk Conflicting classifications of pathogenicity MYO5A-related disorder, Inborn genetic diseases
RS9282830 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS9282835 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS928284057 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS9282859 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS928294715 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS928328635 FOXE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital primary aphakia
RS928335497 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS928348793 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa
RS928358741 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS928361235 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS928368462 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa 51
RS928381854 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS928393582 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS928444733 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS928446379 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 59
RS928476699 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive titinopathy
RS928512979 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS928516350 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS928545955 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS928584298 SLC45A2 Health Risk Likely pathogenic —
RS928593954 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS928594835 MPDZ Health Risk Likely pathogenic —
RS928623580 RNH1 Health Risk risk factor Encephalitis, acute
RS928628454 SEMA6B Health Risk Likely pathogenic —
RS928629166 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS928631810 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS928653182 FAT1 Health Risk Pathogenic —
RS928656346 USH1G Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1G, Usher syndrome type 1G
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