rs132630301

Orientation

plus

Stabilized

plus

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

Make rs132630301(A;T)

Make rs132630301(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134377639

Gene

PHF6

is a	snp
is	mentioned by
dbSNP	rs132630301
dbSNP (classic)	rs132630301
ClinGen	rs132630301
ebi	rs132630301
HLI	rs132630301
Exac	rs132630301
Gnomad	rs132630301
Varsome	rs132630301
LitVar	rs132630301
Map	rs132630301
PheGenI	rs132630301
Biobank	rs132630301
1000 genomes	rs132630301
hgdp	rs132630301
ensembl	rs132630301
geneview	rs132630301
scholar	rs132630301
google	rs132630301
pharmgkb	rs132630301
gwascentral	rs132630301
openSNP	rs132630301
23andMe	rs132630301
SNPshot	rs132630301
SNPdbe	rs132630301
MSV3d	rs132630301
GWAS Ctlg	rs132630301

Max Magnitude

0

OMIM	300414
Desc
Variant	0008
Related	also

ClinVar
Risk	rs132630301(T;T)
Alt	rs132630301(T;T)
Reference	Rs132630301(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.133511669A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011819.5,