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rs869320721

From SNPedia

Orientationminus
Geno Mag Summary
(GCTTCGCC;GCTTCGCC) 0 common in clinvar
Make rs869320721(-;-)
Make rs869320721(-;GCTTCGCC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3234174
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs869320721
ebirs869320721
HLIrs869320721
Exacrs869320721
Varsomers869320721
Maprs869320721
PheGenIrs869320721
hapmaprs869320721
1000 genomesrs869320721
hgdprs869320721
ensemblrs869320721
gopubmedrs869320721
geneviewrs869320721
scholarrs869320721
googlers869320721
pharmgkbrs869320721
gwascentralrs869320721
openSNPrs869320721
23andMers869320721
23andMe allrs869320721
SNP Nexus

SNPshotrs869320721
SNPdbers869320721
MSV3drs869320721
GWAS Ctlgrs869320721
Max Magnitude0
ClinVar
Risk rs869320721(;)
Alt rs869320721(;)
Reference rs869320721(GCTTCGCC;GCTTCGCC)
Significance Pathogenic
Disease Corneal dystrophy and perceptive deafness
Variation info
Gene SLC4A11
CLNDBN Corneal dystrophy and perceptive deafness
Reversed 1
HGVS NC_000020.10:g.3214820_3214827delGGCGAAGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001375.3,