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
RS952271385 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, Inborn genetic diseases
RS952299853 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS952307505 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS952337506 PLEKHA7 Health Risk Conflicting classifications of pathogenicity Adrenocortical carcinoma, hereditary
RS952339666 C1QA Health Risk Pathogenic/Likely pathogenic C1Q deficiency, C1Q deficiency
RS952356983 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS952398755 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS952447952 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS952494962 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS952496908 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS952530640 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS952554990 NF1 Health Risk Conflicting classifications of pathogenicity Café-au-lait macules with pulmonary stenosis, Neurofibromatosis-Noonan syndrome
RS952566855 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS952604863 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS952647277 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS952650934 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS952702867 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS952741388 NARS2 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 94
RS952757087 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS952789527 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS952799248 CYP4V2 Health Risk Pathogenic —
RS952804990 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS952813051 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS952830677 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS952831120 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS952876781 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, SMAD6-related disorder
RS952890575 TBX1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DiGeorge syndrome
RS952902764 SLC45A2 Health Risk Pathogenic —
RS952911807 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS952915562 COX20 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 11
RS952996030 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS953016593 SLC45A2 Health Risk Pathogenic —
RS953019155 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS953029145 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS953044138 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS953079477 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS953081958 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS953108559 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS953189827 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS953232395 ERCC6L2 Health Risk Conflicting classifications of pathogenicity —
RS953240164 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS953271494 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS953274911 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS953298656 ADAMTSL2 Health Risk Pathogenic Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS953327449 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS953345181 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS953353202 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS953361030 VLDLR Health Risk Pathogenic —
RS953380956 EMC10 Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and variable seizures, EMC10-related disorder
RS953396864 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS953404925 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS953411128 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS953415774 PCYT2 Health Risk Pathogenic Spastic paraplegia 82, autosomal recessive
RS953422571 PDZD7 Health Risk Likely pathogenic Hearing loss, autosomal recessive 57
RS953440640 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS953453944 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS953454766 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS953483853 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS953486434 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS9535023 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS953512104 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS953533034 PIEZO2 Health Risk Conflicting classifications of pathogenicity PIEZO2-related disorder, PIEZO2-related disorder
RS953562416 EBP Health Risk Conflicting classifications of pathogenicity MEND syndrome, MEND syndrome
RS953581894 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS953586472 WASHC5 Health Risk Likely pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS953605928 ABCA4 Health Risk Likely pathogenic ABCA4-related disorder, ABCA4-related disorder
RS9536062 THSD1 Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Lymphatic malformation 13
RS953652494 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS953653119 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS953686324 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 4B
RS953707145 C1QA Health Risk Likely pathogenic —
RS953725612 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS953766694 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS953781410 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS953796748 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS953809517 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS953849956 NARS2 Health Risk Conflicting classifications of pathogenicity Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS953851097 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS953855540 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS953870735 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS953889846 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS953923193 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS953946888 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS953994627 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS953995815 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS954009958 SETD1A Health Risk Conflicting classifications of pathogenicity —
RS954024168 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS954041989 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS954071713 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS954088519 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS954133038 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS954135080 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS954135116 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS954138495 DOCK6 Health Risk Likely pathogenic —
RS954149471 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS954149915 RALA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS954167907 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS954173429 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS954179017 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS954192338 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
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