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rs79184941

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79184941(C;G)
Make rs79184941(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position121520163
GeneFGFR2
is asnp
is mentioned by
dbSNPrs79184941
dbSNP (classic)rs79184941
ClinGenrs79184941
ebirs79184941
HLIrs79184941
Exacrs79184941
Gnomadrs79184941
Varsomers79184941
LitVarrs79184941
Maprs79184941
PheGenIrs79184941
Biobankrs79184941
1000 genomesrs79184941
hgdprs79184941
ensemblrs79184941
geneviewrs79184941
scholarrs79184941
googlers79184941
pharmgkbrs79184941
gwascentralrs79184941
openSNPrs79184941
23andMers79184941
SNPshotrs79184941
SNPdbers79184941
MSV3drs79184941
GWAS Ctlgrs79184941
Max Magnitude0
OMIM176943
Desc
Variant0010
Relatedalso
ClinVar
Risk rs79184941(G;G) rs79184941(T;T)
Alt rs79184941(G;G) rs79184941(T;T)
Reference Rs79184941(C;C)
Significance Pathogenic
Disease Acrocephalosyndactyly type I Endometrial carcinoma not provided Malignant neoplasm of body of uterus Endometrial Endometrioid Adenocarcinoma Uterine Carcinosarcoma Acrocephalosyndactyly Endometrial neoplasm Adenocarcinoma of stomach
Variation info
Gene FGFR2
CLNDBN Acrocephalosyndactyly type I Endometrial carcinoma not provided Malignant neoplasm of body of uterus Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Uterine Carcinosarcoma Acrocephalosyndactyly Endometrial neoplasm Adenocarcinoma of stomach
Reversed 1
HGVS NC_000010.10:g.123279677G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014191.24, RCV000014192.4, RCV000263144.1, RCV000422979.1, RCV000431027.1, RCV000433250.1, RCV000433942.1, RCV000438603.1, RCV000440715.1,