rs121918488

Orientation

minus

Stabilized

minus

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

Make rs121918488(C;C)

Make rs121918488(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

121517379

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs121918488
dbSNP (classic)	rs121918488
ClinGen	rs121918488
ebi	rs121918488
HLI	rs121918488
Exac	rs121918488
Gnomad	rs121918488
Varsome	rs121918488
LitVar	rs121918488
Map	rs121918488
PheGenI	rs121918488
Biobank	rs121918488
1000 genomes	rs121918488
hgdp	rs121918488
ensembl	rs121918488
geneview	rs121918488
scholar	rs121918488
google	rs121918488
pharmgkb	rs121918488
gwascentral	rs121918488
openSNP	rs121918488
23andMe	rs121918488
SNPshot	rs121918488
SNPdbe	rs121918488
MSV3d	rs121918488
GWAS Ctlg	rs121918488

Max Magnitude

0

OMIM	176943
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918488(A;A) rs121918488(C;C) rs121918488(G;G)
Alt	rs121918488(A;A) rs121918488(C;C) rs121918488(G;G)
Reference	Rs121918488(T;T)
Significance	Pathogenic
Disease	Pfeiffer syndrome Crouzon syndrome Jackson-Weiss syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis not provided
Variation	info
Gene	FGFR2
CLNDBN	Pfeiffer syndrome Crouzon syndrome Jackson-Weiss syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis not provided
Reversed	1
HGVS	NC_000010.10:g.123276893A>C; NC_000010.10:g.123276893A>G; NC_000010.10:g.123276893A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000415501.1, RCV000014177.23, RCV000014178.24, RCV000014179.23, RCV000014180.24, RCV000014181.26, RCV000014182.24, RCV000014183.18, RCV000415484.1, RCV000490034.1,