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rs121913049

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913049(C;T)
Make rs121913049(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position13947991
GeneERCC4
is asnp
is mentioned by
dbSNPrs121913049
dbSNP (old)rs121913049
ClinGenrs121913049
ebirs121913049
HLIrs121913049
Exacrs121913049
Gnomadrs121913049
Varsomers121913049
Maprs121913049
PheGenIrs121913049
Biobankrs121913049
1000 genomesrs121913049
hgdprs121913049
ensemblrs121913049
gopubmedrs121913049
geneviewrs121913049
scholarrs121913049
googlers121913049
pharmgkbrs121913049
gwascentralrs121913049
openSNPrs121913049
23andMers121913049
23andMe allrs121913049
SNP Nexus

SNPshotrs121913049
SNPdbers121913049
MSV3drs121913049
GWAS Ctlgrs121913049
Max Magnitude0
OMIM133520
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913049(T;T)
Alt rs121913049(T;T)
Reference Rs121913049(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum not specified not provided Cockayne syndrome Fanconi anemia
Variation info
Gene ERCC4
CLNDBN Xeroderma pigmentosum, group F not specified not provided Cockayne syndrome Fanconi anemia, complementation group Q
Reversed 0
HGVS NC_000016.9:g.14041848C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018048.24, RCV000120808.1, RCV000415873.1, RCV000467658.1,