rs1047100

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1047100(A;G)

Make rs1047100(G;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

121538644

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs1047100
dbSNP (classic)	rs1047100
ClinGen	rs1047100
ebi	rs1047100
HLI	rs1047100
Exac	rs1047100
Gnomad	rs1047100
Varsome	rs1047100
LitVar	rs1047100
Map	rs1047100
PheGenI	rs1047100
Biobank	rs1047100
1000 genomes	rs1047100
hgdp	rs1047100
ensembl	rs1047100
geneview	rs1047100
scholar	rs1047100
google	rs1047100
pharmgkb	rs1047100
gwascentral	rs1047100
openSNP	rs1047100
23andMe	rs1047100
SNPshot	rs1047100
SNPdbe	rs1047100
MSV3d	rs1047100
GWAS Ctlg	rs1047100

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 24385678] 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,