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rs869312978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312978(-;-)
Make rs869312978(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position107929419
GeneSEC63
is asnp
is mentioned by
dbSNPrs869312978
dbSNP (classic)rs869312978
ClinGenrs869312978
ebirs869312978
HLIrs869312978
Exacrs869312978
Gnomadrs869312978
Varsomers869312978
LitVarrs869312978
Maprs869312978
PheGenIrs869312978
Biobankrs869312978
1000 genomesrs869312978
hgdprs869312978
ensemblrs869312978
geneviewrs869312978
scholarrs869312978
googlers869312978
pharmgkbrs869312978
gwascentralrs869312978
openSNPrs869312978
23andMers869312978
SNPshotrs869312978
SNPdbers869312978
MSV3drs869312978
GWAS Ctlgrs869312978
Max Magnitude0
ClinVar
Risk rs869312978(-;-)
Alt rs869312978(-;-)
Reference Rs869312978(G;G)
Significance Pathogenic
Disease Congenital cystic disease of liver
Variation info
Gene SEC63
CLNDBN Congenital cystic disease of liver
Reversed 1
HGVS NC_000006.11:g.108250623delC
CLNSRC
CLNACC RCV000210741.1,