rs398123614

Orientation

minus

Stabilized

minus

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

Make rs398123614(C;T)

Make rs398123614(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154362044

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs398123614
dbSNP (classic)	rs398123614
ClinGen	rs398123614
ebi	rs398123614
HLI	rs398123614
Exac	rs398123614
Gnomad	rs398123614
Varsome	rs398123614
LitVar	rs398123614
Map	rs398123614
PheGenI	rs398123614
Biobank	rs398123614
1000 genomes	rs398123614
hgdp	rs398123614
ensembl	rs398123614
geneview	rs398123614
scholar	rs398123614
google	rs398123614
pharmgkb	rs398123614
gwascentral	rs398123614
openSNP	rs398123614
23andMe	rs398123614
SNPshot	rs398123614
SNPdbe	rs398123614
MSV3d	rs398123614
GWAS Ctlg	rs398123614

Max Magnitude

0

ClinVar
Risk	rs398123614(T;T)
Alt	rs398123614(T;T)
Reference	Rs398123614(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.153590412G>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000079689.3, RCV000175416.1, RCV000175417.1,