rs1060500716

Orientation

minus

Stabilized

minus

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

Make rs1060500716(C;T)

Make rs1060500716(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

154360127

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs1060500716
dbSNP (classic)	rs1060500716
ClinGen	rs1060500716
ebi	rs1060500716
HLI	rs1060500716
Exac	rs1060500716
Gnomad	rs1060500716
Varsome	rs1060500716
LitVar	rs1060500716
Map	rs1060500716
PheGenI	rs1060500716
Biobank	rs1060500716
1000 genomes	rs1060500716
hgdp	rs1060500716
ensembl	rs1060500716
geneview	rs1060500716
scholar	rs1060500716
google	rs1060500716
pharmgkb	rs1060500716
gwascentral	rs1060500716
openSNP	rs1060500716
23andMe	rs1060500716
SNPshot	rs1060500716
SNPdbe	rs1060500716
MSV3d	rs1060500716
GWAS Ctlg	rs1060500716

Max Magnitude

0

ClinVar
Risk	rs1060500716(T;T)
Alt	rs1060500716(T;T)
Reference	Rs1060500716(C;C)
Significance	Pathogenic
Disease	Frontometaphyseal dysplasia
Variation	info
Gene	FLNA
CLNDBN	Frontometaphyseal dysplasia
Reversed	1
HGVS	NC_000023.10:g.153588495G>A
CLNSRC
CLNACC	RCV000462485.1,