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rs869320722

From SNPedia

Orientationminus
Geno Mag Summary
(TACG;TACG) 0 common in clinvar
Make rs869320722(A;A)
Make rs869320722(A;TACG)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3230597
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs869320722
ebirs869320722
HLIrs869320722
Exacrs869320722
Varsomers869320722
Maprs869320722
PheGenIrs869320722
hapmaprs869320722
1000 genomesrs869320722
hgdprs869320722
ensemblrs869320722
gopubmedrs869320722
geneviewrs869320722
scholarrs869320722
googlers869320722
pharmgkbrs869320722
gwascentralrs869320722
openSNPrs869320722
23andMers869320722
23andMe allrs869320722
SNP Nexus

SNPshotrs869320722
SNPdbers869320722
MSV3drs869320722
GWAS Ctlgrs869320722
Max Magnitude0
ClinVar
Risk rs869320722(A;A)
Alt rs869320722(A;A)
Reference rs869320722(TACG;TACG)
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.3211243_3211246delCGTAinsT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001376.3,