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rs886039224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs886039224(A;T)
Make rs886039224(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position45414887
GeneERCC1
is asnp
is mentioned by
dbSNPrs886039224
dbSNP (classic)rs886039224
ClinGenrs886039224
ebirs886039224
HLIrs886039224
Exacrs886039224
Gnomadrs886039224
Varsomers886039224
LitVarrs886039224
Maprs886039224
PheGenIrs886039224
Biobankrs886039224
1000 genomesrs886039224
hgdprs886039224
ensemblrs886039224
geneviewrs886039224
scholarrs886039224
googlers886039224
pharmgkbrs886039224
gwascentralrs886039224
openSNPrs886039224
23andMers886039224
SNPshotrs886039224
SNPdbers886039224
MSV3drs886039224
GWAS Ctlgrs886039224
Max Magnitude0
ClinVar
Risk rs886039224(T;T)
Alt rs886039224(T;T)
Reference Rs886039224(A;A)
Significance Pathogenic
Disease Cockayne syndrome
Variation info
Gene ERCC1
CLNDBN Cockayne syndrome
Reversed 1
HGVS NC_000019.9:g.45918145T>A
CLNSRC
CLNACC RCV000247362.1,