rs104894854

Orientation

minus

Stabilized

minus

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

Make rs104894854(A;A)

Make rs104894854(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

133753628

Gene

GPC3

is a	snp
is	mentioned by
dbSNP	rs104894854
dbSNP (classic)	rs104894854
ClinGen	rs104894854
ebi	rs104894854
HLI	rs104894854
Exac	rs104894854
Gnomad	rs104894854
Varsome	rs104894854
LitVar	rs104894854
Map	rs104894854
PheGenI	rs104894854
Biobank	rs104894854
1000 genomes	rs104894854
hgdp	rs104894854
ensembl	rs104894854
geneview	rs104894854
scholar	rs104894854
google	rs104894854
pharmgkb	rs104894854
gwascentral	rs104894854
openSNP	rs104894854
23andMe	rs104894854
SNPshot	rs104894854
SNPdbe	rs104894854
MSV3d	rs104894854
GWAS Ctlg	rs104894854

Max Magnitude

0

OMIM	300037
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894854(A;A)
Alt	rs104894854(A;A)
Reference	Rs104894854(T;T)
Significance	Pathogenic
Disease	Simpson-Golabi-Behmel syndrome
Variation	info
Gene	GPC3
CLNDBN	Simpson-Golabi-Behmel syndrome
Reversed	1
HGVS	NC_000023.10:g.132887655A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012453.23,