rs78311289

Orientation

plus

Stabilized

plus

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

Make rs78311289(A;G)

Make rs78311289(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1806162

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs78311289
dbSNP (classic)	rs78311289
ClinGen	rs78311289
ebi	rs78311289
HLI	rs78311289
Exac	rs78311289
Gnomad	rs78311289
Varsome	rs78311289
LitVar	rs78311289
Map	rs78311289
PheGenI	rs78311289
Biobank	rs78311289
1000 genomes	rs78311289
hgdp	rs78311289
ensembl	rs78311289
geneview	rs78311289
scholar	rs78311289
google	rs78311289
pharmgkb	rs78311289
gwascentral	rs78311289
openSNP	rs78311289
23andMe	rs78311289
SNPshot	rs78311289
SNPdbe	rs78311289
MSV3d	rs78311289
GWAS Ctlg	rs78311289

Max Magnitude

0

OMIM	134934
Desc
Variant	0004
Related	also

ClinVar
Risk	rs78311289(C;C) rs78311289(G;G)
Alt	rs78311289(C;C) rs78311289(G;G)
Reference	Rs78311289(A;A)
Significance	Pathogenic
Disease	Hypochondroplasia Malignant tumor of urinary bladder Acanthosis nigricans Bladder carcinoma Thanatophoric dysplasia Multiple myeloma Spermatocytic seminoma not provided Carcinoma
Variation	info
Gene	FGFR3
CLNDBN	Hypochondroplasia Malignant tumor of urinary bladder Acanthosis nigricans Bladder carcinoma Thanatophoric dysplasia, type 2 Multiple myeloma Spermatocytic seminoma not provided Carcinoma
Reversed	0
HGVS	NC_000004.11:g.1807889A>C; NC_000004.11:g.1807889A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017757.31, RCV000144153.3, RCV000430843.1, RCV000437923.1, RCV000017728.24, RCV000017729.5, RCV000017730.5, RCV000255799.1, RCV000433411.1,