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rs1057518910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518910(C;C)
Make rs1057518910(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position49500634
GeneERCC6
is asnp
is mentioned by
dbSNPrs1057518910
dbSNP (old)rs1057518910
ClinGenrs1057518910
ebirs1057518910
HLIrs1057518910
Exacrs1057518910
Gnomadrs1057518910
Varsomers1057518910
Maprs1057518910
PheGenIrs1057518910
Biobankrs1057518910
1000 genomesrs1057518910
hgdprs1057518910
ensemblrs1057518910
gopubmedrs1057518910
geneviewrs1057518910
scholarrs1057518910
googlers1057518910
pharmgkbrs1057518910
gwascentralrs1057518910
openSNPrs1057518910
23andMers1057518910
23andMe allrs1057518910
SNPshotrs1057518910
SNPdbers1057518910
MSV3drs1057518910
GWAS Ctlgrs1057518910
Max Magnitude0
ClinVar
Risk rs1057518910(C;C)
Alt rs1057518910(C;C)
Reference Rs1057518910(T;T)
Significance Probable-Pathogenic
Disease Cockayne syndrome
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome
Reversed 1
HGVS NC_000010.10:g.50708680A>G
CLNSRC
CLNACC RCV000415186.1,