rs28935469

Orientation

minus

Stabilized

minus

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

Make rs28935469(C;T)

Make rs28935469(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154367844

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs28935469
dbSNP (classic)	rs28935469
ClinGen	rs28935469
ebi	rs28935469
HLI	rs28935469
Exac	rs28935469
Gnomad	rs28935469
Varsome	rs28935469
LitVar	rs28935469
Map	rs28935469
PheGenI	rs28935469
Biobank	rs28935469
1000 genomes	rs28935469
hgdp	rs28935469
ensembl	rs28935469
geneview	rs28935469
scholar	rs28935469
google	rs28935469
pharmgkb	rs28935469
gwascentral	rs28935469
openSNP	rs28935469
23andMe	rs28935469
SNPshot	rs28935469
SNPdbe	rs28935469
MSV3d	rs28935469
GWAS Ctlg	rs28935469

Max Magnitude

0

OMIM	300017
Desc	OTOPALATODIGITAL SYNDROME, TYPE I
Variant	0009
Related	also

ClinVar
Risk	rs28935469(T;T)
Alt	rs28935469(T;T)
Reference	Rs28935469(C;C)
Significance	Pathogenic
Disease	Oto-palato-digital syndrome Cleft palate Conductive hearing impairment Short stature
Variation	info
Gene	FLNA
CLNDBN	Oto-palato-digital syndrome, type I Cleft palate Conductive hearing impairment Short stature
Reversed	1
HGVS	NC_000023.10:g.153596212G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012521.16, RCV000415125.1,