rs104894449

Orientation

plus

Stabilized

plus

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

Make rs104894449(A;A)

Make rs104894449(A;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

49622285

Gene	MGAT2, RPL36AL

is a	snp
is	mentioned by
dbSNP	rs104894449
dbSNP (classic)	rs104894449
ClinGen	rs104894449
ebi	rs104894449
HLI	rs104894449
Exac	rs104894449
Gnomad	rs104894449
Varsome	rs104894449
LitVar	rs104894449
Map	rs104894449
PheGenI	rs104894449
Biobank	rs104894449
1000 genomes	rs104894449
hgdp	rs104894449
ensembl	rs104894449
geneview	rs104894449
scholar	rs104894449
google	rs104894449
pharmgkb	rs104894449
gwascentral	rs104894449
openSNP	rs104894449
23andMe	rs104894449
SNPshot	rs104894449
SNPdbe	rs104894449
MSV3d	rs104894449
GWAS Ctlg	rs104894449

Max Magnitude

0

OMIM	602616
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894449(A;A)
Alt	rs104894449(A;A)
Reference	Rs104894449(T;T)
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.50089003T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007408.3,