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rs864309654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATT;ATT) 0 common in clinvar
(I;I) 0 common genotype
Make rs864309654(-;-)
Make rs864309654(-;ATT)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88518858
GeneKITLG
is asnp
is mentioned by
dbSNPrs864309654
dbSNP (classic)rs864309654
ClinGenrs864309654
ebirs864309654
HLIrs864309654
Exacrs864309654
Gnomadrs864309654
Varsomers864309654
LitVarrs864309654
Maprs864309654
PheGenIrs864309654
Biobankrs864309654
1000 genomesrs864309654
hgdprs864309654
ensemblrs864309654
geneviewrs864309654
scholarrs864309654
googlers864309654
pharmgkbrs864309654
gwascentralrs864309654
openSNPrs864309654
23andMers864309654
SNPshotrs864309654
SNPdbers864309654
MSV3drs864309654
GWAS Ctlgrs864309654
Max Magnitude0
ClinVar
Risk rs864309654(-;-)
Alt rs864309654(-;-)
Reference Rs864309654(ATT;ATT)
Significance Pathogenic
Disease Deafness
Variation info
Gene KITLG
CLNDBN Deafness, autosomal dominant 69
Reversed 1
HGVS NC_000012.11:g.88912635_88912637delAAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000203244.3,