rs121917704

Orientation

minus

Stabilized

minus

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

Make rs121917704(C;T)

Make rs121917704(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

69816334

Gene

FGF3

is a	snp
is	mentioned by
dbSNP	rs121917704
dbSNP (classic)	rs121917704
ClinGen	rs121917704
ebi	rs121917704
HLI	rs121917704
Exac	rs121917704
Gnomad	rs121917704
Varsome	rs121917704
LitVar	rs121917704
Map	rs121917704
PheGenI	rs121917704
Biobank	rs121917704
1000 genomes	rs121917704
hgdp	rs121917704
ensembl	rs121917704
geneview	rs121917704
scholar	rs121917704
google	rs121917704
pharmgkb	rs121917704
gwascentral	rs121917704
openSNP	rs121917704
23andMe	rs121917704
SNPshot	rs121917704
SNPdbe	rs121917704
MSV3d	rs121917704
GWAS Ctlg	rs121917704

Max Magnitude

0

OMIM	164950
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121917704(T;T)
Alt	rs121917704(T;T)
Reference	Rs121917704(C;C)
Significance	Pathogenic
Disease	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Variation	info
Gene	FGF3
CLNDBN	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Reversed	1
HGVS	NC_000011.9:g.69631102G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014850.23,