RS121913016 ERCC2

Health Risk Chr 19:45357367 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Xeroderma pigmentosum
group D
Trichothiodystrophy 1
photosensitive
Inborn genetic diseases
Xeroderma pigmentosum
group D
Trichothiodystrophy 1
photosensitive
Inborn genetic diseases
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
99.3%
Other Variants in ERCC2
rs121913017 rs121913018 rs121913019 rs121913020 rs121913021 rs121913023 rs121913024 rs2123229159 rs121913025 rs121913026
Ask Dr. Hemsworth about this variant