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rs794726672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs794726672(-;-)
Make rs794726672(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position54728056
GeneKIT
is asnp
is mentioned by
dbSNPrs794726672
dbSNP (classic)rs794726672
ClinGenrs794726672
ebirs794726672
HLIrs794726672
Exacrs794726672
Gnomadrs794726672
Varsomers794726672
LitVarrs794726672
Maprs794726672
PheGenIrs794726672
Biobankrs794726672
1000 genomesrs794726672
hgdprs794726672
ensemblrs794726672
geneviewrs794726672
scholarrs794726672
googlers794726672
pharmgkbrs794726672
gwascentralrs794726672
openSNPrs794726672
23andMers794726672
SNPshotrs794726672
SNPdbers794726672
MSV3drs794726672
GWAS Ctlgrs794726672
Max Magnitude0
ClinVar
Risk rs794726672(-;-)
Alt rs794726672(-;-)
Reference Rs794726672(AA;AA)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55594222_55594223delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000014859.22,