rs137853317

Orientation

minus

Stabilized

minus

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

Make rs137853317(C;T)

Make rs137853317(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154367878

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs137853317
dbSNP (classic)	rs137853317
ClinGen	rs137853317
ebi	rs137853317
HLI	rs137853317
Exac	rs137853317
Gnomad	rs137853317
Varsome	rs137853317
LitVar	rs137853317
Map	rs137853317
PheGenI	rs137853317
Biobank	rs137853317
1000 genomes	rs137853317
hgdp	rs137853317
ensembl	rs137853317
geneview	rs137853317
scholar	rs137853317
google	rs137853317
pharmgkb	rs137853317
gwascentral	rs137853317
openSNP	rs137853317
23andMe	rs137853317
SNPshot	rs137853317
SNPdbe	rs137853317
MSV3d	rs137853317
GWAS Ctlg	rs137853317

Max Magnitude

0

OMIM	300017
Desc
Variant	0026
Related	also

ClinVar
Risk	rs137853317(T;T)
Alt	rs137853317(T;T)
Reference	Rs137853317(C;C)
Significance	Pathogenic
Disease	Oto-palato-digital syndrome Oto-palato-digital syndrome not specified
Variation	info
Gene	FLNA
CLNDBN	Oto-palato-digital syndrome, type I Oto-palato-digital syndrome, type II not specified
Reversed	1
HGVS	NC_000023.10:g.153596246G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012538.17, RCV000012539.16, RCV000153245.3,