rs727503931

Orientation

minus

Stabilized

minus

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

Make rs727503931(C;T)

Make rs727503931(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154350912

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs727503931
dbSNP (classic)	rs727503931
ClinGen	rs727503931
ebi	rs727503931
HLI	rs727503931
Exac	rs727503931
Gnomad	rs727503931
Varsome	rs727503931
LitVar	rs727503931
Map	rs727503931
PheGenI	rs727503931
Biobank	rs727503931
1000 genomes	rs727503931
hgdp	rs727503931
ensembl	rs727503931
geneview	rs727503931
scholar	rs727503931
google	rs727503931
pharmgkb	rs727503931
gwascentral	rs727503931
openSNP	rs727503931
23andMe	rs727503931
SNPshot	rs727503931
SNPdbe	rs727503931
MSV3d	rs727503931
GWAS Ctlg	rs727503931

Max Magnitude

0

ClinVar
Risk	rs727503931(G;G) rs727503931(T;T)
Alt	rs727503931(G;G) rs727503931(T;T)
Reference	Rs727503931(C;C)
Significance	Pathogenic
Disease	not provided Oto-palato-digital syndrome Periventricular nodular heterotopia 1
Variation	info
Gene	FLNA
CLNDBN	not provided Oto-palato-digital syndrome, type I Periventricular nodular heterotopia 1
Reversed	1
HGVS	NC_000023.10:g.153579280G>A
CLNSRC
CLNACC	RCV000153250.2, RCV000178520.1, RCV000178521.1,