rs104894448

Orientation

plus

Stabilized

plus

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

Make rs104894448(A;G)

Make rs104894448(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

49622220

Gene	MGAT2, RPL36AL

is a	snp
is	mentioned by
dbSNP	rs104894448
dbSNP (classic)	rs104894448
ClinGen	rs104894448
ebi	rs104894448
HLI	rs104894448
Exac	rs104894448
Gnomad	rs104894448
Varsome	rs104894448
LitVar	rs104894448
Map	rs104894448
PheGenI	rs104894448
Biobank	rs104894448
1000 genomes	rs104894448
hgdp	rs104894448
ensembl	rs104894448
geneview	rs104894448
scholar	rs104894448
google	rs104894448
pharmgkb	rs104894448
gwascentral	rs104894448
openSNP	rs104894448
23andMe	rs104894448
SNPshot	rs104894448
SNPdbe	rs104894448
MSV3d	rs104894448
GWAS Ctlg	rs104894448

Max Magnitude

0

OMIM	602616
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894448(G;G)
Alt	rs104894448(G;G)
Reference	Rs104894448(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.50088938A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007407.3,