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
RS2532303553 CAMK2A Health Risk Pathogenic —
RS2532310162 CAMK2A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 53
RS2532310211 CAMK2A Health Risk Likely pathogenic —
RS2532310219 CAMK2A Health Risk Likely pathogenic —
RS2532311257 ADGRV1 Health Risk Pathogenic —
RS2532311493 ADGRV1 Health Risk Pathogenic —
RS2532311966 CAMK2A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 53
RS2532312025 CAMK2A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 53
RS2532315012 CAMK2A Health Risk Pathogenic Intellectual disability, autosomal dominant 53
RS2532319609 CAMK2A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 53
RS2532327182 CAMK2A Health Risk Likely pathogenic Intellectual disability, autosomal recessive 63
RS2532329302 CTNNA1 Health Risk Pathogenic/Likely pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS2532329311 CTNNA1 Health Risk Pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS2532329401 TRDN Health Risk Likely pathogenic —
RS2532329792 CTNNA1 Health Risk Pathogenic —
RS2532330256 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2532340410 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2532341301 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2532343902 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532345521 POLH Health Risk Pathogenic —
RS2532346355 MAK Health Risk Pathogenic —
RS2532348445 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532348599 TFAP2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2532349261 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532349558 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532349572 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2532350704 ADGRV1 Health Risk Pathogenic —
RS2532351267 GDF9 Health Risk Likely pathogenic Premature ovarian failure 14, Premature ovarian failure 14
RS2532351713 ADGRV1 Health Risk Pathogenic —
RS2532352818 ADGRV1 Health Risk Pathogenic —
RS2532358223 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS2532358261 TFAP2A;TFAP2A-AS2 Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS2532358360 TFAP2A Health Risk Likely pathogenic —
RS2532358471 TFAP2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2532358786 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2532359044 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532360512 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2532361573 DNAH8 Health Risk Likely pathogenic DNAH8-related disorder, DNAH8-related disorder
RS2532363566 TFAP2A Health Risk Likely pathogenic —
RS2532363719 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS2532363869 TFAP2A Health Risk Pathogenic —
RS2532363915 TFAP2A Health Risk Pathogenic —
RS2532363988 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS2532368252 POLH Health Risk Pathogenic —
RS2532368451 POLH Health Risk Pathogenic —
RS2532368603 POLH Health Risk Pathogenic —
RS2532375845 SEMA6A Health Risk Likely pathogenic Delayed puberty, self-limited
RS2532377146 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS2532385605 TREM2 Health Risk Likely pathogenic —
RS2532388222 TREM2 Health Risk Pathogenic —
RS2532391377 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS2532396959 CYFIP2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 65
RS2532397214 MAK Health Risk Pathogenic —
RS2532398657 MAK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2532400175 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2532400378 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2532402379 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2532403135 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2532405250 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532405325 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532406862 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532408872 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2532409654 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2532411247 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532411795 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS2532411893 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532413268 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532413834 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532413880 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532414044 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532414213 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532414823 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532415188 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2532415414 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2532415480 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532416106 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
RS2532416243 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532416337 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2532416567 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532417178 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532417643 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532418568 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS2532418913 CYFIP2 Health Risk Likely pathogenic —
RS2532423112 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2532424023 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2532424941 CTNNA1 Health Risk Likely pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS2532425006 CTNNA1 Health Risk Pathogenic —
RS2532425020 CTNNA1 Health Risk Likely pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS2532425163 MAK Health Risk Pathogenic —
RS2532425702 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532426483 MAK Health Risk Pathogenic —
RS2532426836 MAK Health Risk Pathogenic —
RS2532430236 CYFIP2 Health Risk Likely pathogenic —
RS2532437222 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Neoplasm
RS2532441399 ADGRV1 Health Risk Pathogenic —
RS2532442502 ADGRV1 Health Risk Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS2532445696 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2532445726 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532445784 CTNNA1 Health Risk Pathogenic —
RS2532446173 CTNNA1 Health Risk Pathogenic —
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