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
RS2543608092 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543608309 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543608350 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543608936 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543609050 TP53 Health Risk Likely pathogenic Prostate cancer, hereditary
RS2543615294 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543616341 RAI1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543616450 RAI1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543618056 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2543618999 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS2543619356 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619403 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619589 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619675 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619739 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619809 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619949 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543620151 RAI1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2543620405 RAI1 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2543620600 RAI1 Health Risk Pathogenic —
RS2543622432 RAI1 Health Risk Pathogenic —
RS2543623093 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543623129 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543623199 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543623370 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543623576 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543624168 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543624225 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543624299 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624361 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543624402 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624410 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624446 RAI1 Health Risk Pathogenic —
RS2543624449 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624471 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624604 RAI1 Health Risk Pathogenic —
RS2543624765 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624839 RAI1 Health Risk Pathogenic —
RS2543625009 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2543625115 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2543625241 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543625525 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543625644 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543625720 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543625803 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543625855 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543626099 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543626787 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543627380 TP53 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2543627479 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543628290 CDK10 Health Risk Pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS2543628552 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543628617 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2543628642 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543628897 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543628953 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543629178 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543629219 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543629872 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS2543629961 TP53 Health Risk Likely pathogenic Adrenocortical carcinoma, hereditary
RS2543630848 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543631200 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543631409 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543631696 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543631920 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543632082 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543632896 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543634274 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543634463 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543634677 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543634730 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543636027 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543636035 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543636229 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543636344 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543636367 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543636472 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543636959 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543636972 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543636984 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543641517 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS2543641753 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543641820 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543641888 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543642031 TP53 Health Risk Likely pathogenic Adrenocortical carcinoma, hereditary
RS2543642941 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2543643952 CETP Health Risk Likely pathogenic Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS2543644692 ADAMTS18 Health Risk Pathogenic —
RS2543645899 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS2543647904 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543647908 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543648043 ADAMTS18 Health Risk Pathogenic —
RS2543648257 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658121 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658129 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658211 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658214 ASPA;SPATA22 Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658229 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658239 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543659119 TBX6 Health Risk Likely pathogenic Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
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