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rs199470479

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199470479(-;-)
Make rs199470479(-;T)
Make rs199470479(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position75029229
GeneKAT6B, LOC105378361
is asnp
is mentioned by
dbSNPrs199470479
ebirs199470479
HLIrs199470479
Exacrs199470479
Varsomers199470479
Maprs199470479
PheGenIrs199470479
hapmaprs199470479
1000 genomesrs199470479
hgdprs199470479
ensemblrs199470479
gopubmedrs199470479
geneviewrs199470479
scholarrs199470479
googlers199470479
pharmgkbrs199470479
gwascentralrs199470479
openSNPrs199470479
23andMers199470479
23andMe allrs199470479
SNP Nexus

SNPshotrs199470479
SNPdbers199470479
MSV3drs199470479
GWAS Ctlgrs199470479
Max Magnitude0
ClinVar
Risk rs199470479(T;T)
Alt rs199470479(T;T)
Reference rs199470479(;)
Significance Pathogenic
Disease Young Simpson syndrome not provided
Variation info
Gene KAT6B
CLNDBN Young Simpson syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76788987dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023482.4, RCV000128654.1,