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rs869025184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTC;TCTC) 0 common in clinvar
Make rs869025184(-;-)
Make rs869025184(-;TCTC)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position13947900
GeneERCC4
is asnp
is mentioned by
dbSNPrs869025184
dbSNP (classic)rs869025184
ClinGenrs869025184
ebirs869025184
HLIrs869025184
Exacrs869025184
Gnomadrs869025184
Varsomers869025184
LitVarrs869025184
Maprs869025184
PheGenIrs869025184
Biobankrs869025184
1000 genomesrs869025184
hgdprs869025184
ensemblrs869025184
geneviewrs869025184
scholarrs869025184
googlers869025184
pharmgkbrs869025184
gwascentralrs869025184
openSNPrs869025184
23andMers869025184
SNPshotrs869025184
SNPdbers869025184
MSV3drs869025184
GWAS Ctlgrs869025184
Max Magnitude0
ClinVar
Risk rs869025184(-;-)
Alt rs869025184(-;-)
Reference Rs869025184(TCTC;TCTC)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC4
CLNDBN Xeroderma pigmentosum, group F
Reversed 0
HGVS NC_000016.9:g.14041757_14041760delTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018047.27,