rs730882218

Orientation

plus

Stabilized

plus

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

Make rs730882218(C;C)

Make rs730882218(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

49621979

Gene	MGAT2, RPL36AL

is a	snp
is	mentioned by
dbSNP	rs730882218
dbSNP (classic)	rs730882218
ClinGen	rs730882218
ebi	rs730882218
HLI	rs730882218
Exac	rs730882218
Gnomad	rs730882218
Varsome	rs730882218
LitVar	rs730882218
Map	rs730882218
PheGenI	rs730882218
Biobank	rs730882218
1000 genomes	rs730882218
hgdp	rs730882218
ensembl	rs730882218
geneview	rs730882218
scholar	rs730882218
google	rs730882218
pharmgkb	rs730882218
gwascentral	rs730882218
openSNP	rs730882218
23andMe	rs730882218
SNPshot	rs730882218
SNPdbe	rs730882218
MSV3d	rs730882218
GWAS Ctlg	rs730882218

Max Magnitude

0

ClinVar
Risk	rs730882218(C;C)
Alt	rs730882218(C;C)
Reference	Rs730882218(G;G)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type II Abnormal facial shape Abnormal glycosylation (CDG IIa) Global developmental delay
Variation	info
Gene	MGAT2 RPL36AL
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type II Abnormal facial shape Abnormal glycosylation (CDG IIa) Global developmental delay
Reversed	0
HGVS	NC_000014.8:g.50088697G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023200.4, RCV000162128.1,