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rs121913469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs121913469(CC;CC)
Make rs121913469(CC;TT)
ReferenceGRCh38 38.1/141
Chromosome17
Position39723966
GeneERBB2
is asnp
is mentioned by
dbSNPrs121913469
dbSNP (classic)rs121913469
ClinGenrs121913469
ebirs121913469
HLIrs121913469
Exacrs121913469
Gnomadrs121913469
Varsomers121913469
LitVarrs121913469
Maprs121913469
PheGenIrs121913469
Biobankrs121913469
1000 genomesrs121913469
hgdprs121913469
ensemblrs121913469
geneviewrs121913469
scholarrs121913469
googlers121913469
pharmgkbrs121913469
gwascentralrs121913469
openSNPrs121913469
23andMers121913469
SNPshotrs121913469
SNPdbers121913469
MSV3drs121913469
GWAS Ctlgrs121913469
Max Magnitude0
OMIM164870
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913469(CC;CC)
Alt rs121913469(CC;CC)
Reference Rs121913469(TT;TT)
Significance Pathogenic
Disease Adenocarcinoma of lung Neoplasm of breast Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Colorectal Neoplasms Adenocarcinoma of stomach Malignant melanoma of skin Papillary renal cell carcinoma
Variation info
Gene ERBB2
CLNDBN Adenocarcinoma of lung Neoplasm of breast Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Colorectal Neoplasms Adenocarcinoma of stomach Malignant melanoma of skin Papillary renal cell carcinoma, sporadic
Reversed 0
HGVS NC_000017.10:g.37880219_37880220delTTinsCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014891.5, RCV000420852.1, RCV000425374.1, RCV000426475.1, RCV000427611.1, RCV000433907.1, RCV000436720.1, RCV000443258.1,