rs118203930

Merged into

rs72555393

Orientation

minus

Stabilized

minus

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

Make rs118203930(C;T)

Make rs118203930(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33072544

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs118203930
dbSNP (classic)	rs118203930
ClinGen	rs118203930
ebi	rs118203930
HLI	rs118203930
Exac	rs118203930
Gnomad	rs118203930
Varsome	rs118203930
LitVar	rs118203930
Map	rs118203930
PheGenI	rs118203930
Biobank	rs118203930
1000 genomes	rs118203930
hgdp	rs118203930
ensembl	rs118203930
geneview	rs118203930
scholar	rs118203930
google	rs118203930
pharmgkb	rs118203930
gwascentral	rs118203930
openSNP	rs118203930
23andMe	rs118203930
SNPshot	rs118203930
SNPdbe	rs118203930
MSV3d	rs118203930
GWAS Ctlg	rs118203930

Status

Merged into rs72555393

Max Magnitude

0

OMIM	611458
Desc
Variant	0013
Related	also

ClinVar
Risk	rs118203930(T;T)
Alt	rs118203930(T;T)
Reference	Rs118203930(C;C)
Significance	Pathogenic
Disease	Gangliosidosis GM1 type 3
Variation	info
Gene	GLB1
CLNDBN	Gangliosidosis GM1 type 3
Reversed	1
HGVS	NC_000003.11:g.33114036G>A
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000021134.1, SCV000021134.1,