rs1057515583

Orientation

minus

Stabilized

minus

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

Make rs1057515583(-;AA)

Make rs1057515583(AA;AA)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

154362745

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs1057515583
dbSNP (classic)	rs1057515583
ClinGen	rs1057515583
ebi	rs1057515583
HLI	rs1057515583
Exac	rs1057515583
Gnomad	rs1057515583
Varsome	rs1057515583
LitVar	rs1057515583
Map	rs1057515583
PheGenI	rs1057515583
Biobank	rs1057515583
1000 genomes	rs1057515583
hgdp	rs1057515583
ensembl	rs1057515583
geneview	rs1057515583
scholar	rs1057515583
google	rs1057515583
pharmgkb	rs1057515583
gwascentral	rs1057515583
openSNP	rs1057515583
23andMe	rs1057515583
SNPshot	rs1057515583
SNPdbe	rs1057515583
MSV3d	rs1057515583
GWAS Ctlg	rs1057515583

Max Magnitude

0

ClinVar
Risk	rs1057515583(AA;AA)
Alt	rs1057515583(AA;AA)
Reference	Rs1057515583(-;-)
Significance	Pathogenic
Disease	Periventricular nodular heterotopia 1
Variation	info
Gene	FLNA
CLNDBN	Periventricular nodular heterotopia 1
Reversed	1
HGVS	NC_000023.10:g.153591113_153591114insTT
CLNSRC
CLNACC	RCV000336798.1,