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
RS1205909298 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1205920781 KIZ Health Risk Likely pathogenic —
RS1205964567 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1205971311 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Infantile hypophosphatasia
RS1205972630 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS12059860 CYP4B1 Health Risk association Pulmonary disease, chronic obstructive
RS1205986855 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1205989324 EIF2AK3 Health Risk Likely pathogenic —
RS1205990349 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1206001509 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1206002281 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS1206013600 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1206016866 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1206030542 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1206044252 TPM1 Health Risk Likely pathogenic Dilated cardiomyopathy 1Y, Dilated cardiomyopathy 1Y
RS1206061120 FKBP10 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 1, FKBP10-related disorder
RS1206062430 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1206062558 TTLL5 Health Risk Likely pathogenic —
RS1206078224 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1206089987 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1206101901 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1206108637 FECH Health Risk Likely pathogenic —
RS1206116606 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS1206116722 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1206136415 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1206142672 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1206153335 USP9X Health Risk Pathogenic —
RS1206160345 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1206163048 TRMU Health Risk Pathogenic/Likely pathogenic —
RS1206165503 TP53 Health Risk Pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1206168005 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1206185362 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1206206296 EYS Health Risk Pathogenic —
RS1206214608 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1206217022 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1206233497 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1206249850 TSEN54 Health Risk Pathogenic —
RS1206301205 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS1206309859 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS1206321984 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1206358847 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1206365367 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1206374036 USH2A Health Risk Pathogenic —
RS1206396303 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1206413996 ALG12 Health Risk Pathogenic/Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS1206423781 OPTN Health Risk Pathogenic Glaucoma 1, open angle
RS1206425661 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS1206452899 GGCX Health Risk Pathogenic —
RS1206472219 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1206472792 WRAP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1206475365 COL11A2 Health Risk Pathogenic/Likely pathogenic —
RS1206476337 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1206478143 OPTN Health Risk Pathogenic —
RS1206491725 TUBGCP6 Health Risk Pathogenic —
RS1206504105 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS1206508060 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1206511483 TSHR Health Risk Pathogenic TSHR-related disorder, TSHR-related disorder
RS1206517501 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1206559440 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1206562843 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1206574200 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis 13
RS1206578296 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1206609823 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1206639344 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Inborn genetic diseases
RS1206662571 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1206678898 OBSCN Health Risk Pathogenic OBSCN-related disorder, OBSCN-related disorder
RS1206723575 CEP290 Health Risk Likely pathogenic —
RS1206731716 MESP2 Health Risk Pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS1206753537 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, IFT140-related disorder
RS1206778631 UBR1 Health Risk Pathogenic —
RS1206810310 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1206813753 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1206838893 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1206843725 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1206861190 EYS Health Risk Likely pathogenic —
RS1206863775 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS1206865525 MYO7A Health Risk Likely pathogenic —
RS12068754 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS1206881555 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1206884190 SMARCC2 Health Risk Pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS1206884841 POMK Health Risk Pathogenic Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1206933109 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1206950481 ANO10 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1206951756 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS1206977063 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, Inborn genetic diseases
RS1206985138 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1206991395 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1207050293 DNAH9 Health Risk Pathogenic —
RS1207051921 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1207080512 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1207085497 MYBPC1 Health Risk Likely pathogenic —
RS1207096732 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1207102247 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Ovarian cancer
RS1207105923 NKX6-2 Health Risk Likely pathogenic Spastic ataxia 8, autosomal recessive
RS1207122491 TMC1 Health Risk Likely pathogenic TMC1-related disorder, TMC1-related disorder
RS1207142968 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS1207147043 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1207174167 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1207177925 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, See cases
RS1207202747 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
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