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
RS1268692157 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1268694070 COL18A1 Health Risk Pathogenic —
RS1268711491 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1268719113 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, Inborn genetic diseases
RS1268722908 FA2H Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 35, Spastic paraplegia
RS1268725013 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1268738297 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1268759044 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1268762258 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1268762655 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1268770869 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1268774120 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS1268790878 ABCG5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1268810426 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS1268815918 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Abnormal central motor function
RS1268826811 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1268834418 SLC25A12 Health Risk Pathogenic/Likely pathogenic —
RS1268839383 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1268865720 DBH Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1268876800 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1268910016 VWF Health Risk Likely pathogenic —
RS1268933712 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1268937457 CLCN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1268937748 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1268938831 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1268944859 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1268962372 RIN2 Health Risk Pathogenic —
RS1268984037 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1269055454 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1269062522 ADAMTS19 Health Risk Pathogenic Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2
RS1269067103 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1269068071 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS1269116944 SLC39A4 Health Risk Pathogenic —
RS12691202 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1269122026 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1269127133 MYO15A Health Risk Pathogenic —
RS1269133775 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1269138380 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS1269140893 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1269162063 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS1269179049 CFAP65 Health Risk Pathogenic Spermatogenic failure 40, Spermatogenic failure 40
RS1269182131 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1269188508 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1269193853 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1269205597 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1269225724 DNM2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate B
RS1269227357 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1269233569 C2CD3 Health Risk Pathogenic —
RS1269268607 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1269271727 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS1269308421 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1269359376 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1269375163 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1269379998 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1269413739 COX11 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 23
RS1269419137 CEP250 Health Risk Pathogenic —
RS1269419908 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1269424201 PLOD3 Health Risk Pathogenic —
RS1269425503 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1269457253 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1269472669 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1269491438 SLC12A1 Health Risk Likely pathogenic —
RS1269494985 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1269511347 CPOX Health Risk Pathogenic —
RS1269514277 FGD1 Health Risk Pathogenic/Likely pathogenic Aarskog syndrome, FGD1-related disorder
RS1269517446 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1269546947 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1269555090 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia
RS1269558164 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS1269565757 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1269569810 NR2E3 Health Risk Pathogenic —
RS1269602767 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS1269619781 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1269622956 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1269635449 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1269642027 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1269675188 PIK3R2 Health Risk Pathogenic —
RS1269675538 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1269699495 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1269738842 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1269744178 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1269750663 CCDC47 Health Risk Pathogenic/Likely pathogenic Global developmental delay with dysmorphic features, liver dysfunction
RS1269786119 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1269787346 CERKL Health Risk Pathogenic —
RS1269788253 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1269791493 MSH3 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1269806627 ST3GAL5 Health Risk Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1269812562 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS1269819085 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1269825866 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1269827788 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Inborn genetic diseases
RS1269841240 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1269873284 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1269877061 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1269878493 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1269885083 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1269896419 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1269903353 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1269908637 STAC3 Health Risk Pathogenic/Likely pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS1269916662 F7 Health Risk Conflicting classifications of pathogenicity —
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