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rs138083522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
Make rs138083522(C;T)
Make rs138083522(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome10
Position17071457
GeneCUBN
is asnp
is mentioned by
dbSNPrs138083522
dbSNP (classic)rs138083522
ClinGenrs138083522
ebirs138083522
HLIrs138083522
Exacrs138083522
Gnomadrs138083522
Varsomers138083522
LitVarrs138083522
Maprs138083522
PheGenIrs138083522
Biobankrs138083522
1000 genomesrs138083522
hgdprs138083522
ensemblrs138083522
geneviewrs138083522
scholarrs138083522
googlers138083522
pharmgkbrs138083522
gwascentralrs138083522
openSNPrs138083522
23andMers138083522
SNPshotrs138083522
SNPdbers138083522
MSV3drs138083522
GWAS Ctlgrs138083522
Max Magnitude0

CUBN gene, c.2594G>A (p.Ser865Asn)

minor allele reported as pathogenic in ClinVar but condition not specified

ClinVar
Risk rs138083522(A;A) rs138083522(T;T)
Alt rs138083522(A;A) rs138083522(T;T)
Reference Rs138083522(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene CUBN
CLNDBN not provided
Reversed 0
HGVS NC_000010.10:g.17113456C>T
CLNSRC
CLNACC RCV000255679.1,