rs864309532

Orientation

plus

Stabilized

plus

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

Make rs864309532(A;A)

Make rs864309532(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

134393952

Gene

PHF6

is a	snp
is	mentioned by
dbSNP	rs864309532
dbSNP (classic)	rs864309532
ClinGen	rs864309532
ebi	rs864309532
HLI	rs864309532
Exac	rs864309532
Gnomad	rs864309532
Varsome	rs864309532
LitVar	rs864309532
Map	rs864309532
PheGenI	rs864309532
Biobank	rs864309532
1000 genomes	rs864309532
hgdp	rs864309532
ensembl	rs864309532
geneview	rs864309532
scholar	rs864309532
google	rs864309532
pharmgkb	rs864309532
gwascentral	rs864309532
openSNP	rs864309532
23andMe	rs864309532
SNPshot	rs864309532
SNPdbe	rs864309532
MSV3d	rs864309532
GWAS Ctlg	rs864309532

Max Magnitude

0

ClinVar
Risk	rs864309532(A;A)
Alt	rs864309532(A;A)
Reference	Rs864309532(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.133527982G>A
CLNSRC
CLNACC	RCV000202613.1,