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
RS144422408 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1444225681 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS144422709 OTOF Health Risk Conflicting classifications of pathogenicity —
RS1444227608 SLC12A6 Health Risk Likely pathogenic —
RS144422918 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1444234037 RPE65 Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 2
RS144423660 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS144424662 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS144424711 IRF8 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
RS1444255127 SLC39A8 Health Risk Likely pathogenic SLC39A8-CDG, SLC39A8-CDG
RS144425830 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Congenital anomaly of kidney and urinary tract
RS144426409 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS1444268809 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1444271998 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1444272064 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1444273117 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS144427399 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS1444280419 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS144428082 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS144428415 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS144428799 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1444290546 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS144429298 HS1BP3 Health Risk Conflicting classifications of pathogenicity —
RS1444297448 NEUROG3 Health Risk Pathogenic —
RS144430063 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS1444302456 GDF6 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 4, Leber congenital amaurosis 17
RS144430633 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1444306607 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1444308532 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1444318368 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS144431930 KLF11 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young type 7
RS144432231 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS144432336 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS144433265 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS1444332878 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1444337902 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS144433879 ZNF526 Health Risk Conflicting classifications of pathogenicity Dentici-Novelli neurodevelopmental syndrome, Inborn genetic diseases
RS1444341722 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1444350890 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1444353743 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS144435836 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS144436610 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy
RS1444368852 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS144438200 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS1444390106 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1444391928 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1444392809 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS144439284 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1444395453 SIN3A Health Risk Pathogenic/Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related disorder
RS144439703 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS144439937 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS144440223 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS144440263 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS1444410452 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS144442290 WDFY3 Health Risk Conflicting classifications of pathogenicity Microcephaly 18, primary
RS144444357 DHH Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 7
RS144445130 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS1444451434 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS144445150 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS144445891 PCNT Health Risk Conflicting classifications of pathogenicity —
RS1444468055 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS144447291 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS144447618 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome type 1
RS144447862 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 7
RS144447953 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Sneddon syndrome
RS144448357 ABL1 Health Risk Conflicting classifications of pathogenicity Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS144448521 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS144448831 TBCE Health Risk Conflicting classifications of pathogenicity TBCE-related disorder, TBCE-related disorder
RS1444488601 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS144449983 KLB Health Risk Conflicting classifications of pathogenicity —
RS144450109 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS144450123 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1444502845 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS144450367 MYO16 Health Risk Conflicting classifications of pathogenicity —
RS144450528 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS144451000 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS144451192 CNKSR2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS144451221 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS144451403 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS144451686 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS144451841 CRYAB Health Risk Conflicting classifications of pathogenicity Developmental cataract, Dilated cardiomyopathy 1II
RS144451862 GNRHR Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, GNRHR-related disorder
RS1444518753 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS144453491 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1444535055 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS144455066 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS1444551164 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS144455258 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS144455277 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS144455304 GRID2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 18, GRID2-related disorder
RS144455663 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Inborn genetic diseases
RS144455736 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS1444559235 PUS7 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS1444564272 WHRN Health Risk Conflicting classifications of pathogenicity —
RS144456854 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1444576393 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS144457722 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS1444591972 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS144459490 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS144460063 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
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