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rs786205170

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs786205170(-;A)
Make rs786205170(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49470547
GeneERCC6
is asnp
is mentioned by
dbSNPrs786205170
dbSNP (classic)rs786205170
ClinGenrs786205170
ebirs786205170
HLIrs786205170
Exacrs786205170
Gnomadrs786205170
Varsomers786205170
LitVarrs786205170
Maprs786205170
PheGenIrs786205170
Biobankrs786205170
1000 genomesrs786205170
hgdprs786205170
ensemblrs786205170
geneviewrs786205170
scholarrs786205170
googlers786205170
pharmgkbrs786205170
gwascentralrs786205170
openSNPrs786205170
23andMers786205170
SNPshotrs786205170
SNPdbers786205170
MSV3drs786205170
GWAS Ctlgrs786205170
Max Magnitude0
ClinVar
Risk rs786205170(A;A)
Alt rs786205170(A;A)
Reference Rs786205170(-;-)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50678594dupT
CLNSRC
CLNACC RCV000170385.1,