rs80338837

Orientation

minus

Stabilized

minus

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

Make rs80338837(A;A)

Make rs80338837(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154360243

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs80338837
dbSNP (classic)	rs80338837
ClinGen	rs80338837
ebi	rs80338837
HLI	rs80338837
Exac	rs80338837
Gnomad	rs80338837
Varsome	rs80338837
LitVar	rs80338837
Map	rs80338837
PheGenI	rs80338837
Biobank	rs80338837
1000 genomes	rs80338837
hgdp	rs80338837
ensembl	rs80338837
geneview	rs80338837
scholar	rs80338837
google	rs80338837
pharmgkb	rs80338837
gwascentral	rs80338837
openSNP	rs80338837
23andMe	rs80338837
SNPshot	rs80338837
SNPdbe	rs80338837
MSV3d	rs80338837
GWAS Ctlg	rs80338837

Max Magnitude

0

ClinVar
Risk	rs80338837(A;A)
Alt	rs80338837(A;A)
Reference	Rs80338837(C;C)
Significance	Pathogenic
Disease	Melnick-Needles syndrome
Variation	info
Gene	FLNA
CLNDBN	Melnick-Needles syndrome
Reversed	1
HGVS	NC_000023.10:g.153588611G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020424.2,