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rs786205173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205173(-;T)
Make rs786205173(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49470347
GeneERCC6
is asnp
is mentioned by
dbSNPrs786205173
dbSNP (classic)rs786205173
ClinGenrs786205173
ebirs786205173
HLIrs786205173
Exacrs786205173
Gnomadrs786205173
Varsomers786205173
LitVarrs786205173
Maprs786205173
PheGenIrs786205173
Biobankrs786205173
1000 genomesrs786205173
hgdprs786205173
ensemblrs786205173
geneviewrs786205173
scholarrs786205173
googlers786205173
pharmgkbrs786205173
gwascentralrs786205173
openSNPrs786205173
23andMers786205173
SNPshotrs786205173
SNPdbers786205173
MSV3drs786205173
GWAS Ctlgrs786205173
Max Magnitude0
ClinVar
Risk rs786205173(T;T)
Alt rs786205173(T;T)
Reference Rs786205173(-;-)
Significance Probable-Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50678393_50678394insA
CLNSRC
CLNACC RCV000170388.1,