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
RS1567658906 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1567659736 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS1567664131 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1567668570 HSF4 Health Risk Likely pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS1567671947 CRYBA1 Health Risk Pathogenic Cataract 10 multiple types, Cataract 10 multiple types
RS1567674182 PIEZO1 Health Risk Likely pathogenic —
RS1567675655 PIEZO1 Health Risk Pathogenic —
RS1567676501 PIEZO1 Health Risk Pathogenic —
RS1567685802 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1567690011 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1567692384 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS1567695026 CTNS Health Risk Pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1567698872 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1567701091 ITGA3 Health Risk Pathogenic Epidermolysis bullosa, junctional 7
RS1567701415 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS1567701707 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567702275 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1567702819 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1567702823 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1567704621 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1567704791 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1567705064 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1567706411 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1567706564 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1567708034 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1567709909 CTNS Health Risk Likely pathogenic Cystinosis, Cystinosis
RS1567713850 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS1567713938 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS1567718875 WDR81 Health Risk Likely pathogenic —
RS1567719258 PMP22 Health Risk Pathogenic —
RS1567719594 WDR81 Health Risk Likely pathogenic —
RS1567721108 KIF1C;LOC126862472 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS1567721991 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1567724999 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1567725425 GPR179 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS1567726124 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1567726305 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1567726315 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1567726325 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1567726515 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS1567726600 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1567727060 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567727439 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1567727934 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567728273 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1567728372 GPR179 Health Risk Pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS1567728557 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1567728609 GPR179 Health Risk Pathogenic —
RS1567728636 RAD51D Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567728649 RAD51D Health Risk Pathogenic RAD51D-related disorder, Breast-ovarian cancer
RS1567728794 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1567728809 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567729445 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567730151 CA4 Health Risk Likely pathogenic —
RS1567730339 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1567730901 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1567731308 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1567731767 PEX12 Health Risk Pathogenic —
RS1567731917 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1567732136 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1567734638 MYH2 Health Risk Likely pathogenic —
RS1567735224 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1567735277 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567735397 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1567735899 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1567737536 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1567738332 KRT14 Health Risk Likely pathogenic —
RS1567738897 SGCA Health Risk Pathogenic —
RS1567739042 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1567739228 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1567739339 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1567739735 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1567739857 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1567741236 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1567741398 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1567744830 HYDIN Health Risk Likely pathogenic —
RS1567745111 NOG Health Risk Likely pathogenic Proximal symphalangism 1A, Proximal symphalangism 1A
RS1567745119 NOG Health Risk Pathogenic Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS1567745645 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1567749982 NTN1 Health Risk Pathogenic Mirror movements 4, Mirror movements 4
RS1567750186 NTN1 Health Risk Pathogenic Mirror movements 4, Mirror movements 4
RS1567750187 NTN1 Health Risk Pathogenic Mirror movements 4, Mirror movements 4
RS1567750527 MEOX1 Health Risk Likely pathogenic Klippel-Feil syndrome 2, autosomal recessive
RS1567751388 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1567752926 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1567752998 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1567753046 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1567753148 ESR2 Health Risk Pathogenic Ovarian dysgenesis 8, Ovarian dysgenesis 8
RS1567753329 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1567753448 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1567753699 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1567754277 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1567754589 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1567754639 COL1A1 Health Risk Pathogenic —
RS1567754914 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1567755539 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1567755602 COL1A1 Health Risk Pathogenic/Likely pathogenic COL1A1-related disorder, Osteogenesis imperfecta
RS1567755628 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS1567755946 AXIN2 Health Risk Pathogenic Colorectal cancer, Oligodontia
RS1567756032 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
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