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rs1057516033

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516033(A;A)
Make rs1057516033(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position75025250
GeneKAT6B
is asnp
is mentioned by
dbSNPrs1057516033
dbSNP (old)rs1057516033
ClinGenrs1057516033
ebirs1057516033
HLIrs1057516033
Exacrs1057516033
Gnomadrs1057516033
Varsomers1057516033
Maprs1057516033
PheGenIrs1057516033
Biobankrs1057516033
1000 genomesrs1057516033
hgdprs1057516033
ensemblrs1057516033
gopubmedrs1057516033
geneviewrs1057516033
scholarrs1057516033
googlers1057516033
pharmgkbrs1057516033
gwascentralrs1057516033
openSNPrs1057516033
23andMers1057516033
23andMe allrs1057516033
SNPshotrs1057516033
SNPdbers1057516033
MSV3drs1057516033
GWAS Ctlgrs1057516033
Max Magnitude0
ClinVar
Risk rs1057516033(A;A)
Alt rs1057516033(A;A)
Reference Rs1057516033(G;G)
Significance Pathogenic
Disease Young Simpson syndrome
Variation info
Gene KAT6B
CLNDBN Young Simpson syndrome
Reversed 0
HGVS NC_000010.10:g.76785008G>A
CLNSRC
CLNACC RCV000408626.1,