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rs387906959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906959(G;T)
Make rs387906959(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position39723394
GeneCOG6
is asnp
is mentioned by
dbSNPrs387906959
ebirs387906959
HLIrs387906959
Exacrs387906959
Varsomers387906959
Maprs387906959
PheGenIrs387906959
hapmaprs387906959
1000 genomesrs387906959
hgdprs387906959
ensemblrs387906959
gopubmedrs387906959
geneviewrs387906959
scholarrs387906959
googlers387906959
pharmgkbrs387906959
gwascentralrs387906959
openSNPrs387906959
23andMers387906959
23andMe allrs387906959
SNP Nexus

SNPshotrs387906959
SNPdbers387906959
MSV3drs387906959
GWAS Ctlgrs387906959
Max Magnitude0
ClinVar
Risk rs387906959(C,T;C,T)
Alt rs387906959(C,T;C,T)
Reference rs387906959(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2L
Variation info
Gene COG6
CLNDBN Congenital disorder of glycosylation type 2L
Reversed 0
HGVS NC_000013.10:g.40297531G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023603.4,