rs751325113

Orientation

plus

Stabilized

plus

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

Make rs751325113(A;G)

Make rs751325113(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

130342034

Gene	CCDC115, IMP4

is a	snp
is	mentioned by
dbSNP	rs751325113
dbSNP (classic)	rs751325113
ClinGen	rs751325113
ebi	rs751325113
HLI	rs751325113
Exac	rs751325113
Gnomad	rs751325113
Varsome	rs751325113
LitVar	rs751325113
Map	rs751325113
PheGenI	rs751325113
Biobank	rs751325113
1000 genomes	rs751325113
hgdp	rs751325113
ensembl	rs751325113
geneview	rs751325113
scholar	rs751325113
google	rs751325113
pharmgkb	rs751325113
gwascentral	rs751325113
openSNP	rs751325113
23andMe	rs751325113
SNPshot	rs751325113
SNPdbe	rs751325113
MSV3d	rs751325113
GWAS Ctlg	rs751325113

Max Magnitude

0

ClinVar
Risk	rs751325113(G;G)
Alt	rs751325113(G;G)
Reference	Rs751325113(A;A)
Significance	Pathogenic
Disease	CONGENITAL DISORDER OF GLYCOSYLATION Congenital disorders of glycosylation type II
Variation	info
Gene	IMP4 CCDC115
CLNDBN	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo Congenital disorders of glycosylation type II
Reversed	0
HGVS	NC_000002.11:g.131099607A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000208585.1, RCV000210795.1,