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rs786205169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205169(-;-)
Make rs786205169(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49482857
GeneERCC6
is asnp
is mentioned by
dbSNPrs786205169
dbSNP (classic)rs786205169
ClinGenrs786205169
ebirs786205169
HLIrs786205169
Exacrs786205169
Gnomadrs786205169
Varsomers786205169
LitVarrs786205169
Maprs786205169
PheGenIrs786205169
Biobankrs786205169
1000 genomesrs786205169
hgdprs786205169
ensemblrs786205169
geneviewrs786205169
scholarrs786205169
googlers786205169
pharmgkbrs786205169
gwascentralrs786205169
openSNPrs786205169
23andMers786205169
SNPshotrs786205169
SNPdbers786205169
MSV3drs786205169
GWAS Ctlgrs786205169
Max Magnitude0
ClinVar
Risk rs786205169(-;-)
Alt rs786205169(-;-)
Reference Rs786205169(A;A)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50690903delT
CLNSRC
CLNACC RCV000170375.1,