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rs4253196

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs4253196(A;G)
Make rs4253196(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position49473613
GeneERCC6
is asnp
is mentioned by
dbSNPrs4253196
ebirs4253196
HLIrs4253196
Exacrs4253196
Varsomers4253196
Maprs4253196
PheGenIrs4253196
hapmaprs4253196
1000 genomesrs4253196
hgdprs4253196
ensemblrs4253196
gopubmedrs4253196
geneviewrs4253196
scholarrs4253196
googlers4253196
pharmgkbrs4253196
gwascentralrs4253196
openSNPrs4253196
23andMers4253196
23andMe allrs4253196
SNP Nexus

SNPshotrs4253196
SNPdbers4253196
MSV3drs4253196
GWAS Ctlgrs4253196
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs4253196(C,G;C,G)
Alt rs4253196(C,G;C,G)
Reference rs4253196(A;A)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50681659T>C
CLNSRC
CLNACC RCV000170380.1,