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rs869320673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320673(A;A)
Make rs869320673(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position57260016
GeneAPPL1
is asnp
is mentioned by
dbSNPrs869320673
dbSNP (classic)rs869320673
ClinGenrs869320673
ebirs869320673
HLIrs869320673
Exacrs869320673
Gnomadrs869320673
Varsomers869320673
LitVarrs869320673
Maprs869320673
PheGenIrs869320673
Biobankrs869320673
1000 genomesrs869320673
hgdprs869320673
ensemblrs869320673
geneviewrs869320673
scholarrs869320673
googlers869320673
pharmgkbrs869320673
gwascentralrs869320673
openSNPrs869320673
23andMers869320673
SNPshotrs869320673
SNPdbers869320673
MSV3drs869320673
GWAS Ctlgrs869320673
Max Magnitude0
ClinVar
Risk rs869320673(A;A)
Alt rs869320673(A;A)
Reference Rs869320673(T;T)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene APPL1
CLNDBN Maturity-onset diabetes of the young, type 14
Reversed 0
HGVS NC_000003.11:g.57294044T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190336.2,