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
RS2144578905 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144579011 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144579715 COL1A1 Health Risk Pathogenic Ovarian serous cystadenocarcinoma, Osteogenesis imperfecta type I
RS2144579745 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144579869 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144579919 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS2144580035 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144580551 CIITA Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, Rheumatoid arthritis
RS2144580715 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144580791 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144581296 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144581824 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144581910 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144582186 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS2144582634 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144582778 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144582937 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144583557 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144584155 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS2144584170 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144585275 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2144585785 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144585835 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144586064 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144586155 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144586769 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144586877 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144587059 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144587073 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144587690 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144587699 COL1A1 Health Risk Pathogenic —
RS2144587770 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2144587960 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2144587964 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144588406 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144588834 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144588841 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144589016 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144589420 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144589643 AXIN2 Health Risk Likely pathogenic AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis
RS2144589822 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144590955 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144591295 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144591470 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144591532 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144591969 COL1A1 Health Risk Pathogenic —
RS2144592269 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Ovarian cancer
RS2144592396 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144592402 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144592516 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144593648 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144593662 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144593670 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144593675 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144593759 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, 8 conditions
RS2144594178 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144594472 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144594577 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144594663 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144594672 COL1A1 Health Risk Likely pathogenic —
RS2144594807 SLC4A1 Health Risk Pathogenic Autosomal dominant distal renal tubular acidosis, Autosomal dominant distal renal tubular acidosis
RS2144594835 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS2144594870 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS2144596313 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2144596569 SLC4A1 Health Risk Pathogenic —
RS2144600020 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144600046 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144600397 COL1A1 Health Risk Likely pathogenic —
RS2144600428 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144600691 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144601154 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS2144601189 SLC4A1 Health Risk Likely pathogenic SLC4A1-related disorder, 11 conditions
RS2144601728 SLC4A1 Health Risk Likely pathogenic —
RS2144601954 FA2H Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS2144606157 FA2H Health Risk Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS2144607086 SLC4A1 Health Risk Pathogenic/Likely pathogenic BLOOD GROUP--DIEGO SYSTEM, SLC4A1-related disorder
RS2144611947 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS2144612096 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2144613361 ADGRL1 Health Risk Pathogenic Attention deficit hyperactivity disorder, Global developmental delay
RS2144613733 ADGRL1 Health Risk Pathogenic Global developmental delay, Developmental delay
RS2144614170 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144614196 SLC4A1 Health Risk Likely pathogenic —
RS2144615066 SLC4A1 Health Risk Pathogenic —
RS2144615077 SLC4A1 Health Risk Likely pathogenic —
RS2144616263 ADGRL1 Health Risk Pathogenic Global developmental delay, Specific learning disability
RS2144616676 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144616690 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2144616948 SLC4A1 Health Risk Likely pathogenic —
RS2144617221 FA2H Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2144617577 FA2H Health Risk Likely pathogenic See cases, See cases
RS2144622191 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144622461 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 52
RS2144622488 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144622540 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144622620 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS2144622906 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2144622987 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2144625053 POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS2144625139 SLC4A1 Health Risk Pathogenic —
RS2144625404 SMARCD2 Health Risk Pathogenic —
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