rs104894447

Orientation

plus

Stabilized

plus

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

Make rs104894447(A;G)

Make rs104894447(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

49622053

Gene	MGAT2, RPL36AL

is a	snp
is	mentioned by
dbSNP	rs104894447
dbSNP (classic)	rs104894447
ClinGen	rs104894447
ebi	rs104894447
HLI	rs104894447
Exac	rs104894447
Gnomad	rs104894447
Varsome	rs104894447
LitVar	rs104894447
Map	rs104894447
PheGenI	rs104894447
Biobank	rs104894447
1000 genomes	rs104894447
hgdp	rs104894447
ensembl	rs104894447
geneview	rs104894447
scholar	rs104894447
google	rs104894447
pharmgkb	rs104894447
gwascentral	rs104894447
openSNP	rs104894447
23andMe	rs104894447
SNPshot	rs104894447
SNPdbe	rs104894447
MSV3d	rs104894447
GWAS Ctlg	rs104894447

Max Magnitude

0

OMIM	602616
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894447(G;G)
Alt	rs104894447(G;G)
Reference	Rs104894447(A;A)
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.50088771A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007406.3,