rs121918487

Orientation

minus

Stabilized

minus

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

Make rs121918487(A;A)

Make rs121918487(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

121517378

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs121918487
dbSNP (classic)	rs121918487
ClinGen	rs121918487
ebi	rs121918487
HLI	rs121918487
Exac	rs121918487
Gnomad	rs121918487
Varsome	rs121918487
LitVar	rs121918487
Map	rs121918487
PheGenI	rs121918487
Biobank	rs121918487
1000 genomes	rs121918487
hgdp	rs121918487
ensembl	rs121918487
geneview	rs121918487
scholar	rs121918487
google	rs121918487
pharmgkb	rs121918487
gwascentral	rs121918487
openSNP	rs121918487
23andMe	rs121918487
SNPshot	rs121918487
SNPdbe	rs121918487
MSV3d	rs121918487
GWAS Ctlg	rs121918487

Max Magnitude

0

OMIM	176943
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918487(A;A) rs121918487(C;C) rs121918487(T;T)
Alt	rs121918487(A;A) rs121918487(C;C) rs121918487(T;T)
Reference	Rs121918487(G;G)
Significance	Other
Disease	Jackson-Weiss syndrome Crouzon syndrome Pfeiffer syndrome
Variation	info
Gene	FGFR2
CLNDBN	Jackson-Weiss syndrome Crouzon syndrome Pfeiffer syndrome
Reversed	1
HGVS	NC_000010.10:g.123276892C>A; NC_000010.10:g.123276892C>G; NC_000010.10:g.123276892C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000415490.1, RCV000415499.1, RCV000014173.18, RCV000014174.25,