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rs1800124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1800124(A;G)
Make rs1800124(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position13948220
GeneERCC4
is asnp
is mentioned by
dbSNPrs1800124
ebirs1800124
HLIrs1800124
Exacrs1800124
Varsomers1800124
Maprs1800124
PheGenIrs1800124
hapmaprs1800124
1000 genomesrs1800124
hgdprs1800124
ensemblrs1800124
gopubmedrs1800124
geneviewrs1800124
scholarrs1800124
googlers1800124
pharmgkbrs1800124
gwascentralrs1800124
openSNPrs1800124
23andMers1800124
23andMe allrs1800124
SNP Nexus

SNPshotrs1800124
SNPdbers1800124
MSV3drs1800124
GWAS Ctlgrs1800124
GMAF0.008724
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 24004570] Inter-individual variation in nucleotide excision repair pathway is modulated by non-synonymous polymorphisms in ERCC4 and MBD4 genes


[PMID 18767034OA-icon.png] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.


ClinVar
Risk rs1800124(G;G)
Alt rs1800124(G;G)
Reference rs1800124(A;A)
Significance Probable-non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome not provided Cockayne syndrome Fanconi anemia Xeroderma pigmentosum
Variation info
Gene ERCC4
CLNDBN not specified Hereditary cancer-predisposing syndrome not provided Cockayne syndrome Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F
Reversed 0
HGVS NC_000016.9:g.14042077A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000116989.3, RCV000210773.1, RCV000224428.1, RCV000228558.1,