rs122453121

Orientation

minus

Stabilized

minus

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

Make rs122453121(C;T)

Make rs122453121(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

133699902

Gene

GPC3

is a	snp
is	mentioned by
dbSNP	rs122453121
dbSNP (classic)	rs122453121
ClinGen	rs122453121
ebi	rs122453121
HLI	rs122453121
Exac	rs122453121
Gnomad	rs122453121
Varsome	rs122453121
LitVar	rs122453121
Map	rs122453121
PheGenI	rs122453121
Biobank	rs122453121
1000 genomes	rs122453121
hgdp	rs122453121
ensembl	rs122453121
geneview	rs122453121
scholar	rs122453121
google	rs122453121
pharmgkb	rs122453121
gwascentral	rs122453121
openSNP	rs122453121
23andMe	rs122453121
SNPshot	rs122453121
SNPdbe	rs122453121
MSV3d	rs122453121
GWAS Ctlg	rs122453121

Max Magnitude

0

OMIM	300037
Desc
Variant	0010
Related	also

ClinVar
Risk	rs122453121(T;T)
Alt	rs122453121(T;T)
Reference	Rs122453121(C;C)
Significance	Pathogenic
Disease	Simpson-Golabi-Behmel syndrome
Variation	info
Gene	GPC3
CLNDBN	Simpson-Golabi-Behmel syndrome
Reversed	1
HGVS	NC_000023.10:g.132833930G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012460.15,