rs587777489

Orientation

plus

Stabilized

plus

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

Make rs587777489(G;T)

Make rs587777489(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

134417248

Gene

PHF6

is a	snp
is	mentioned by
dbSNP	rs587777489
dbSNP (classic)	rs587777489
ClinGen	rs587777489
ebi	rs587777489
HLI	rs587777489
Exac	rs587777489
Gnomad	rs587777489
Varsome	rs587777489
LitVar	rs587777489
Map	rs587777489
PheGenI	rs587777489
Biobank	rs587777489
1000 genomes	rs587777489
hgdp	rs587777489
ensembl	rs587777489
geneview	rs587777489
scholar	rs587777489
google	rs587777489
pharmgkb	rs587777489
gwascentral	rs587777489
openSNP	rs587777489
23andMe	rs587777489
SNPshot	rs587777489
SNPdbe	rs587777489
MSV3d	rs587777489
GWAS Ctlg	rs587777489

Max Magnitude

0

ClinVar
Risk	rs587777489(T;T)
Alt	rs587777489(T;T)
Reference	Rs587777489(G;G)
Significance	Pathogenic
Disease	Borjeson-Forssman-Lehmann syndrome
Variation	info
Gene	PHF6
CLNDBN	Borjeson-Forssman-Lehmann syndrome
Reversed	0
HGVS	NC_000023.10:g.133551278G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128447.3,