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rs371739894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs371739894(A;A)
Make rs371739894(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position49505883
GeneERCC6
is asnp
is mentioned by
dbSNPrs371739894
dbSNP (classic)rs371739894
ClinGenrs371739894
ebirs371739894
HLIrs371739894
Exacrs371739894
Gnomadrs371739894
Varsomers371739894
LitVarrs371739894
Maprs371739894
PheGenIrs371739894
Biobankrs371739894
1000 genomesrs371739894
hgdprs371739894
ensemblrs371739894
geneviewrs371739894
scholarrs371739894
googlers371739894
pharmgkbrs371739894
gwascentralrs371739894
openSNPrs371739894
23andMers371739894
SNPshotrs371739894
SNPdbers371739894
MSV3drs371739894
GWAS Ctlgrs371739894
Max Magnitude0
ClinVar
Risk rs371739894(A;A)
Alt rs371739894(A;A)
Reference Rs371739894(C;C)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 0
HGVS NC_000010.10:g.50713929C>A
CLNSRC
CLNACC RCV000170365.2,