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rs758439420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758439420(A;A)
Make rs758439420(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position45352351
GeneERCC2
is asnp
is mentioned by
dbSNPrs758439420
dbSNP (classic)rs758439420
ClinGenrs758439420
ebirs758439420
HLIrs758439420
Exacrs758439420
Gnomadrs758439420
Varsomers758439420
LitVarrs758439420
Maprs758439420
PheGenIrs758439420
Biobankrs758439420
1000 genomesrs758439420
hgdprs758439420
ensemblrs758439420
geneviewrs758439420
scholarrs758439420
googlers758439420
pharmgkbrs758439420
gwascentralrs758439420
openSNPrs758439420
23andMers758439420
SNPshotrs758439420
SNPdbers758439420
MSV3drs758439420
GWAS Ctlgrs758439420
Max Magnitude0
ClinVar
Risk rs758439420(A;A) rs758439420(T;T)
Alt rs758439420(A;A) rs758439420(T;T)
Reference Rs758439420(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC2
CLNDBN Xeroderma pigmentosum, group D
Reversed 0
HGVS NC_000019.9:g.45855609C>T
CLNSRC
CLNACC RCV000248679.1,