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rs41556519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs41556519(C;T)
Make rs41556519(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position45352352
GeneERCC2
is asnp
is mentioned by
dbSNPrs41556519
ebirs41556519
HLIrs41556519
Exacrs41556519
Varsomers41556519
Maprs41556519
PheGenIrs41556519
hapmaprs41556519
1000 genomesrs41556519
hgdprs41556519
ensemblrs41556519
gopubmedrs41556519
geneviewrs41556519
scholarrs41556519
googlers41556519
pharmgkbrs41556519
gwascentralrs41556519
openSNPrs41556519
23andMers41556519
23andMe allrs41556519
SNP Nexus

SNPshotrs41556519
SNPdbers41556519
MSV3drs41556519
GWAS Ctlgrs41556519
Max Magnitude0
ClinVar
Risk rs41556519(T;T)
Alt rs41556519(T;T)
Reference rs41556519(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC2
CLNDBN Xeroderma pigmentosum, group D
Reversed 1
HGVS NC_000019.9:g.45855610G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018284.28,