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
RS1064792948 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064792950 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS1064792951 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064792957 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1064792958 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1064792959 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1064792960 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1064792961 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1064792962 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1064792966 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1064792967 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1064792968 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1064792970 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1064792974 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary retinoblastoma
RS1064792977 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064792978 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064792979 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064792980 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064792983 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1064792984 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1064792985 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1064792986 REEP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1064792988 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064792996 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1064792998 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1064792999 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS1064793000 ARHGEF18 Health Risk Pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS1064793001 ARHGEF18 Health Risk Pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS1064793002 ARHGEF18 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS1064793003 SMAD6 Health Risk Conflicting classifications of pathogenicity CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
RS1064793004 ABCA4 Health Risk Pathogenic —
RS1064793005 ABCA4 Health Risk Pathogenic —
RS1064793006 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1064793007 ABCA4 Health Risk Likely pathogenic —
RS1064793008 ABCA4 Health Risk Likely pathogenic —
RS1064793009 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1064793010 ABCA4 Health Risk Pathogenic/Likely pathogenic —
RS1064793011 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS1064793012 ABCA4 Health Risk Likely pathogenic —
RS1064793013 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1064793014 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1064793015 ABCA4 Health Risk Likely pathogenic —
RS1064793020 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS1064793021 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064793022 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064793023 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064793024 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793026 ARSB Health Risk Conflicting classifications of pathogenicity —
RS1064793027 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1064793029 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793031 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793033 ATM Health Risk Pathogenic —
RS1064793042 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1064793043 ATM Health Risk Pathogenic ATM-related disorder, ATM-related disorder
RS1064793046 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064793049 BARD1 Health Risk Pathogenic Familial cancer of breast, Malignant tumor of breast
RS1064793050 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064793051 BEST1 Health Risk Likely pathogenic —
RS1064793052 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1064793054 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793055 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793056 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793057 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793059 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793061 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793062 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793063 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793064 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793065 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793066 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793067 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793068 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793069 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793073 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793074 MTRFR Health Risk Likely pathogenic —
RS1064793075 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1064793076 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1064793078 CALM1 Health Risk Likely pathogenic —
RS1064793081 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome
RS1064793083 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1064793084 CHD7 Health Risk Likely pathogenic —
RS1064793090 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS1064793092 CUL7 Health Risk Likely pathogenic —
RS1064793093 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1064793097 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1064793101 DNM2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS1064793103 DSG2 Health Risk Likely pathogenic —
RS1064793104 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS1064793105 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1064793106 EDA Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1064793107 EDAR Health Risk Likely pathogenic —
RS1064793108 ELANE Health Risk Pathogenic/Likely pathogenic Neutropenia, severe congenital
RS1064793109 FANCC Health Risk Conflicting classifications of pathogenicity FANCC-related disorder, Hereditary cancer-predisposing syndrome
RS1064793110 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS1064793112 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064793113 FBN1 Health Risk Likely pathogenic —
RS1064793114 FBN1 Health Risk Likely pathogenic —
RS1064793115 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1064793116 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064793117 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
« Prev 1 ... 101 102 103 104 105 106 107 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →