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rs762309206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTCA;CTCA) 0 common in clinvar
Make rs762309206(-;-)
Make rs762309206(-;CTCA)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position45364833
GeneERCC2
is asnp
is mentioned by
dbSNPrs762309206
dbSNP (classic)rs762309206
ClinGenrs762309206
ebirs762309206
HLIrs762309206
Exacrs762309206
Gnomadrs762309206
Varsomers762309206
LitVarrs762309206
Maprs762309206
PheGenIrs762309206
Biobankrs762309206
1000 genomesrs762309206
hgdprs762309206
ensemblrs762309206
geneviewrs762309206
scholarrs762309206
googlers762309206
pharmgkbrs762309206
gwascentralrs762309206
openSNPrs762309206
23andMers762309206
SNPshotrs762309206
SNPdbers762309206
MSV3drs762309206
GWAS Ctlgrs762309206
Max Magnitude0
ClinVar
Risk rs762309206(-;-)
Alt rs762309206(-;-)
Reference Rs762309206(CTCA;CTCA)
Significance Probable-Pathogenic
Disease Xeroderma pigmentosum Trichothiodystrophy 1
Variation info
Gene ERCC2
CLNDBN Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive
Reversed 0
HGVS NC_000019.9:g.45868091_45868094delCTCA
CLNSRC
CLNACC RCV000454224.1, RCV000454337.1,