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
RS2123217925 EXOSC5 Health Risk Pathogenic Cerebellar ataxia, brain abnormalities
RS2123221798 ASXL1 Health Risk Likely pathogenic —
RS2123224577 ERCC2 Health Risk Pathogenic —
RS2123227881 ERCC2 Health Risk Likely pathogenic —
RS2123229159 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS2123229548 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2123229638 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2123230774 EXOSC5 Health Risk Pathogenic Cerebellar ataxia, brain abnormalities
RS2123232744 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2123232769 BCKDHA Health Risk Pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2123237278 MYH14 Health Risk Pathogenic —
RS2123252188 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2123253583 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2123254646 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2123255913 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia
RS2123256254 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2123256342 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2123261739 IFNAR1 Health Risk risk factor Immunodeficiency 106, susceptibility to viral infections
RS2123267182 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2123267274 ASXL1 Health Risk Pathogenic —
RS2123270851 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2123283622 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2123284131 RPS19 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS2123285884 ERCC2 Health Risk Pathogenic —
RS2123285949 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS2123286013 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1
RS2123288444 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS2123290747 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2123294697 ERCC2 Health Risk Pathogenic —
RS2123294954 MYH14 Health Risk Pathogenic —
RS2123296002 ERCC2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2123313191 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2123347425 MYH14 Health Risk Likely pathogenic —
RS2123368937 IFNGR2 Health Risk Pathogenic Immunodeficiency 28, Immunodeficiency 28
RS2123370265 IFNGR2 Health Risk Likely pathogenic Immunodeficiency 28, Immunodeficiency 28
RS2123382133 PPP1R13L Health Risk Pathogenic Multiple congenital anomalies/dysmorphic syndrome, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
RS2123386598 PPP1R13L Health Risk Pathogenic OMIM:607463, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
RS2123399674 PLCB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2123435651 SOD1 Health Risk Likely pathogenic Spastic tetraplegia and axial hypotonia, progressive
RS2123437030 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS2123446094 BFSP1 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS2123451202 KIZ Health Risk Pathogenic —
RS2123451347 ARFGEF2 Health Risk Pathogenic —
RS2123451785 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2123454401 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123454477 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123454645 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123454751 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123455043 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123455541 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123456785 KCNE1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS2123457833 KCNE1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2123459914 KCNE1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2123460074 KCNE1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 5
RS2123460152 COL6A1 Health Risk Likely pathogenic —
RS2123460317 COL6A1 Health Risk Likely pathogenic —
RS2123467538 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123471124 COL6A1 Health Risk Pathogenic —
RS2123471915 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123472064 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123472068 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123473096 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123473129 COL6A1 Health Risk Likely pathogenic —
RS2123474665 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123475472 COL6A1 Health Risk Likely pathogenic —
RS2123475539 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123478681 IFNAR2 Health Risk Likely pathogenic —
RS2123480563 COL18A1 Health Risk Pathogenic —
RS2123483827 COL18A1 Health Risk Pathogenic —
RS2123484131 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123484530 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123485173 COL6A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Inborn genetic diseases
RS2123488904 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123490954 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123499275 MYH14 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS2123507871 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123508053 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123511347 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123516572 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123516908 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123517791 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123517868 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123517896 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2123520960 ERCC1 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
RS2123536475 BFSP1 Health Risk Likely pathogenic Cataract 33, Cataract 33
RS2123538435 SCAF4 Health Risk Pathogenic —
RS2123556583 IL10RB Health Risk Likely pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS2123557653 SCAF4 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2123561272 IL10RB Health Risk Pathogenic/Likely pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS2123572141 ETFB Health Risk Pathogenic Glutaric acidemia IIb, Glutaric acidemia IIb
RS2123578933 SCAF4 Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2123580195 ETFB Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2123584339 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2123584685 BICRA Health Risk Likely pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2123585052 BICRA Health Risk Pathogenic —
RS2123586296 SCAF4 Health Risk Pathogenic Rare syndromic intellectual disability, Fliedner-Zweier syndrome
RS2123587098 ETFB Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2123588988 BICRA Health Risk Pathogenic —
RS2123606076 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2123612919 COL6A2 Health Risk Pathogenic Myosclerosis, Bethlem myopathy 1A
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