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rs869320617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGCCCGTCTGC;TGCCCGTCTGC) 0 common in clinvar
Make rs869320617(GGCCGGCCGG;GGCCGGCCGG)
Make rs869320617(GGCCGGCCGG;TGCCCGTCTGC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3229017
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs869320617
dbSNP (old)rs869320617
ClinGenrs869320617
ebirs869320617
HLIrs869320617
Exacrs869320617
Gnomadrs869320617
Varsomers869320617
Maprs869320617
PheGenIrs869320617
Biobankrs869320617
1000 genomesrs869320617
hgdprs869320617
ensemblrs869320617
gopubmedrs869320617
geneviewrs869320617
scholarrs869320617
googlers869320617
pharmgkbrs869320617
gwascentralrs869320617
openSNPrs869320617
23andMers869320617
23andMe allrs869320617
SNP Nexus

SNPshotrs869320617
SNPdbers869320617
MSV3drs869320617
GWAS Ctlgrs869320617
Max Magnitude0
ClinVar
Risk rs869320617(GGCCGGCCGG;GGCCGGCCGG)
Alt rs869320617(GGCCGGCCGG;GGCCGGCCGG)
Reference Rs869320617(TGCCCGTCTGC;TGCCCGTCTGC)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3209663_3209673delGCAGACGGGCAinsCCGGCCGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001373.3,