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rs869320720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs869320720(-;-)
Make rs869320720(-;AGAA)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3234298
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs869320720
dbSNP (classic)rs869320720
ClinGenrs869320720
ebirs869320720
HLIrs869320720
Exacrs869320720
Gnomadrs869320720
Varsomers869320720
LitVarrs869320720
Maprs869320720
PheGenIrs869320720
Biobankrs869320720
1000 genomesrs869320720
hgdprs869320720
ensemblrs869320720
geneviewrs869320720
scholarrs869320720
googlers869320720
pharmgkbrs869320720
gwascentralrs869320720
openSNPrs869320720
23andMers869320720
SNPshotrs869320720
SNPdbers869320720
MSV3drs869320720
GWAS Ctlgrs869320720
Max Magnitude0
ClinVar
Risk rs869320720(-;-)
Alt rs869320720(-;-)
Reference Rs869320720(AGAA;AGAA)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3214944_3214947delTTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001371.3,