rs28935169

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0

Make rs28935169(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154371001

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs28935169
dbSNP (classic)	rs28935169
ClinGen	rs28935169
ebi	rs28935169
HLI	rs28935169
Exac	rs28935169
Gnomad	rs28935169
Varsome	rs28935169
LitVar	rs28935169
Map	rs28935169
PheGenI	rs28935169
Biobank	rs28935169
1000 genomes	rs28935169
hgdp	rs28935169
ensembl	rs28935169
geneview	rs28935169
scholar	rs28935169
google	rs28935169
pharmgkb	rs28935169
gwascentral	rs28935169
openSNP	rs28935169
23andMe	rs28935169
SNPshot	rs28935169
SNPdbe	rs28935169
MSV3d	rs28935169
GWAS Ctlg	rs28935169

Max Magnitude

0

OMIM	300017
Desc	HETEROTOPIA, PERIVENTRICULAR
Variant	0008
Related	also

ClinVar
Risk	Rs28935169(T;T)
Alt	Rs28935169(T;T)
Reference	Rs28935169(A;A)
Significance	Pathogenic
Disease	Periventricular nodular heterotopia 1
Variation	info
Gene	FLNA
CLNDBN	Periventricular nodular heterotopia 1
Reversed	1
HGVS	NC_000023.10:g.153599369T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012520.16,