rs104894918

Orientation

plus

Stabilized

plus

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

Make rs104894918(A;G)

Make rs104894918(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134413923

Gene

PHF6

is a	snp
is	mentioned by
dbSNP	rs104894918
dbSNP (classic)	rs104894918
ClinGen	rs104894918
ebi	rs104894918
HLI	rs104894918
Exac	rs104894918
Gnomad	rs104894918
Varsome	rs104894918
LitVar	rs104894918
Map	rs104894918
PheGenI	rs104894918
Biobank	rs104894918
1000 genomes	rs104894918
hgdp	rs104894918
ensembl	rs104894918
geneview	rs104894918
scholar	rs104894918
google	rs104894918
pharmgkb	rs104894918
gwascentral	rs104894918
openSNP	rs104894918
23andMe	rs104894918
SNPshot	rs104894918
SNPdbe	rs104894918
MSV3d	rs104894918
GWAS Ctlg	rs104894918

Max Magnitude

0

OMIM	300414
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894918(G;G)
Alt	rs104894918(G;G)
Reference	Rs104894918(A;A)
Significance	Pathogenic
Disease	Borjeson-Forssman-Lehmann syndrome
Variation	info
Gene	PHF6
CLNDBN	Borjeson-Forssman-Lehmann syndrome
Reversed	0
HGVS	NC_000023.10:g.133547953A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011816.6,