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rs864309653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTAATTATTCCATCATA;AGTAATTATTCCATCATA) 0 common in clinvar
Make rs864309653(AGTAATTATTCCATCATA;T)
Make rs864309653(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88518757
GeneKITLG
is asnp
is mentioned by
dbSNPrs864309653
dbSNP (old)rs864309653
ClinGenrs864309653
ebirs864309653
HLIrs864309653
Exacrs864309653
Gnomadrs864309653
Varsomers864309653
Maprs864309653
PheGenIrs864309653
Biobankrs864309653
1000 genomesrs864309653
hgdprs864309653
ensemblrs864309653
gopubmedrs864309653
geneviewrs864309653
scholarrs864309653
googlers864309653
pharmgkbrs864309653
gwascentralrs864309653
openSNPrs864309653
23andMers864309653
23andMe allrs864309653
SNP Nexus

SNPshotrs864309653
SNPdbers864309653
MSV3drs864309653
GWAS Ctlgrs864309653
Max Magnitude0
ClinVar
Risk rs864309653(T;T)
Alt rs864309653(T;T)
Reference Rs864309653(AGTAATTATTCCATCATA;AGTAATTATTCCATCATA)
Significance Pathogenic
Disease Deafness
Variation info
Gene KITLG
CLNDBN Deafness, autosomal dominant 69
Reversed 1
HGVS NC_000012.11:g.88912534_88912551del18insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000203239.3,