rs132630299

Orientation

plus

Stabilized

plus

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

Make rs132630299(A;A)

Make rs132630299(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134377751

Gene

PHF6

is a	snp
is	mentioned by
dbSNP	rs132630299
dbSNP (classic)	rs132630299
ClinGen	rs132630299
ebi	rs132630299
HLI	rs132630299
Exac	rs132630299
Gnomad	rs132630299
Varsome	rs132630299
LitVar	rs132630299
Map	rs132630299
PheGenI	rs132630299
Biobank	rs132630299
1000 genomes	rs132630299
hgdp	rs132630299
ensembl	rs132630299
geneview	rs132630299
scholar	rs132630299
google	rs132630299
pharmgkb	rs132630299
gwascentral	rs132630299
openSNP	rs132630299
23andMe	rs132630299
SNPshot	rs132630299
SNPdbe	rs132630299
MSV3d	rs132630299
GWAS Ctlg	rs132630299

Merged from

Rs28935179

Max Magnitude

0

OMIM	300414
Desc
Variant	0004
Related	also

ClinVar
Risk	rs132630299(A;A)
Alt	rs132630299(A;A)
Reference	Rs132630299(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.133511781G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011815.3,