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rs797044712

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044712(-;T)
Make rs797044712(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position23445159
GeneCOG7
is asnp
is mentioned by
dbSNPrs797044712
ClinGenrs797044712
ebirs797044712
HLIrs797044712
Exacrs797044712
Varsomers797044712
Maprs797044712
PheGenIrs797044712
hapmaprs797044712
1000 genomesrs797044712
hgdprs797044712
ensemblrs797044712
gopubmedrs797044712
geneviewrs797044712
scholarrs797044712
googlers797044712
pharmgkbrs797044712
gwascentralrs797044712
openSNPrs797044712
23andMers797044712
23andMe allrs797044712
SNP Nexus

SNPshotrs797044712
SNPdbers797044712
MSV3drs797044712
GWAS Ctlgrs797044712
Max Magnitude0
ClinVar
Risk rs797044712(T;T)
Alt rs797044712(T;T)
Reference Rs797044712(;)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2E
Variation info
Gene COG7
CLNDBN Congenital disorder of glycosylation type 2E
Reversed 1
HGVS NC_000016.9:g.23456481dupA
CLNSRC
CLNACC RCV000177415.1,