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rs1047100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1047100(A;G)
Make rs1047100(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position121538644
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1047100
dbSNP (classic)rs1047100
ClinGenrs1047100
ebirs1047100
HLIrs1047100
Exacrs1047100
Gnomadrs1047100
Varsomers1047100
LitVarrs1047100
Maprs1047100
PheGenIrs1047100
Biobankrs1047100
1000 genomesrs1047100
hgdprs1047100
ensemblrs1047100
geneviewrs1047100
scholarrs1047100
googlers1047100
pharmgkbrs1047100
gwascentralrs1047100
openSNPrs1047100
23andMers1047100
SNPshotrs1047100
SNPdbers1047100
MSV3drs1047100
GWAS Ctlgrs1047100
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 24385678OA-icon.png] Involvement of fibroblast growth factor receptor genes in benign prostate hyperplasia in a Korean population


ClinVar
Risk rs1047100(G;G) rs1047100(T;T)
Alt rs1047100(G;G) rs1047100(T;T)
Reference Rs1047100(A;A)
Significance Non-pathogenic
Disease not specified Crouzon syndrome Craniosynostosis Jackson-Weiss syndrome Cutis Gyrata syndrome of Beare and Stevenson Levy-Hollister syndrome Isolated coronal synostosis Pfeiffer syndrome Saethre-Chotzen syndrome Acrocephalosyndactyly type I
Variation info
Gene FGFR2
CLNDBN not specified Crouzon syndrome Craniosynostosis Jackson-Weiss syndrome Cutis Gyrata syndrome of Beare and Stevenson Levy-Hollister syndrome Isolated coronal synostosis Pfeiffer syndrome Saethre-Chotzen syndrome Acrocephalosyndactyly type I
Reversed 1
HGVS NC_000010.10:g.123298158T>C
CLNSRC
CLNACC RCV000250550.2, RCV000264031.1, RCV000268420.1, RCV000270961.1, RCV000308616.1, RCV000316516.1, RCV000321550.1, RCV000363146.1, RCV000365600.1, RCV000378516.1,