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rs869320696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320696(C;C)
Make rs869320696(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position138827609
GeneCTNNA1
is asnp
is mentioned by
dbSNPrs869320696
dbSNP (classic)rs869320696
ClinGenrs869320696
ebirs869320696
HLIrs869320696
Exacrs869320696
Gnomadrs869320696
Varsomers869320696
LitVarrs869320696
Maprs869320696
PheGenIrs869320696
Biobankrs869320696
1000 genomesrs869320696
hgdprs869320696
ensemblrs869320696
geneviewrs869320696
scholarrs869320696
googlers869320696
pharmgkbrs869320696
gwascentralrs869320696
openSNPrs869320696
23andMers869320696
SNPshotrs869320696
SNPdbers869320696
MSV3drs869320696
GWAS Ctlgrs869320696
Max Magnitude0
ClinVar
Risk rs869320696(C;C)
Alt rs869320696(C;C)
Reference Rs869320696(T;T)
Significance Pathogenic
Disease Macular dystrophy
Variation info
Gene CTNNA1
CLNDBN Macular dystrophy, patterned, 2
Reversed 0
HGVS NC_000005.9:g.138163298T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210752.1,