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rs797045107

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCTTCGCCA;GCTTCGCCA) 0 common in clinvar
Make rs797045107(C;C)
Make rs797045107(C;GCTTCGCCA)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3234173
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs797045107
dbSNP (classic)rs797045107
ClinGenrs797045107
ebirs797045107
HLIrs797045107
Exacrs797045107
Gnomadrs797045107
Varsomers797045107
LitVarrs797045107
Maprs797045107
PheGenIrs797045107
Biobankrs797045107
1000 genomesrs797045107
hgdprs797045107
ensemblrs797045107
geneviewrs797045107
scholarrs797045107
googlers797045107
pharmgkbrs797045107
gwascentralrs797045107
openSNPrs797045107
23andMers797045107
SNPshotrs797045107
SNPdbers797045107
MSV3drs797045107
GWAS Ctlgrs797045107
Max Magnitude0
ClinVar
Risk rs797045107(C;C)
Alt rs797045107(C;C)
Reference Rs797045107(GCTTCGCCA;GCTTCGCCA)
Significance Pathogenic
Disease Corneal endothelial dystrophy type 2
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy type 2
Reversed 1
HGVS NC_000020.10:g.3214819_3214827delinsG
CLNSRC
CLNACC RCV000190625.1,