rs104894446

Orientation

plus

Stabilized

plus

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

Make rs104894446(C;T)

Make rs104894446(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

49622137

Gene	MGAT2, RPL36AL

is a	snp
is	mentioned by
dbSNP	rs104894446
dbSNP (classic)	rs104894446
ClinGen	rs104894446
ebi	rs104894446
HLI	rs104894446
Exac	rs104894446
Gnomad	rs104894446
Varsome	rs104894446
LitVar	rs104894446
Map	rs104894446
PheGenI	rs104894446
Biobank	rs104894446
1000 genomes	rs104894446
hgdp	rs104894446
ensembl	rs104894446
geneview	rs104894446
scholar	rs104894446
google	rs104894446
pharmgkb	rs104894446
gwascentral	rs104894446
openSNP	rs104894446
23andMe	rs104894446
SNPshot	rs104894446
SNPdbe	rs104894446
MSV3d	rs104894446
GWAS Ctlg	rs104894446

Max Magnitude

0

OMIM	602616
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894446(T;T)
Alt	rs104894446(T;T)
Reference	Rs104894446(C;C)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type II
Variation	info
Gene	MGAT2 RPL36AL
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type II
Reversed	0
HGVS	NC_000014.8:g.50088855C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007405.3,