rs104894917

Orientation

plus

Stabilized

plus

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

Make rs104894917(A;G)

Make rs104894917(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134413937

Gene

PHF6

is a	snp
is	mentioned by
dbSNP	rs104894917
dbSNP (classic)	rs104894917
ClinGen	rs104894917
ebi	rs104894917
HLI	rs104894917
Exac	rs104894917
Gnomad	rs104894917
Varsome	rs104894917
LitVar	rs104894917
Map	rs104894917
PheGenI	rs104894917
Biobank	rs104894917
1000 genomes	rs104894917
hgdp	rs104894917
ensembl	rs104894917
geneview	rs104894917
scholar	rs104894917
google	rs104894917
pharmgkb	rs104894917
gwascentral	rs104894917
openSNP	rs104894917
23andMe	rs104894917
SNPshot	rs104894917
SNPdbe	rs104894917
MSV3d	rs104894917
GWAS Ctlg	rs104894917

Max Magnitude

0

OMIM	300414
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894917(G;G)
Alt	rs104894917(G;G)
Reference	Rs104894917(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.133547967A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011814.3,