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rs398122878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTCT;GTCT) 0 common in clinvar
(TCTG;TCTG) 0 common in clinvar
Make rs398122878(-;-)
Make rs398122878(-;GTCT)
ReferenceGRCh38 38.1/141
Chromosome11
Position118504698
GeneKMT2A
is asnp
is mentioned by
dbSNPrs398122878
ebirs398122878
HLIrs398122878
Exacrs398122878
Varsomers398122878
Maprs398122878
PheGenIrs398122878
hapmaprs398122878
1000 genomesrs398122878
hgdprs398122878
ensemblrs398122878
gopubmedrs398122878
geneviewrs398122878
scholarrs398122878
googlers398122878
pharmgkbrs398122878
gwascentralrs398122878
openSNPrs398122878
23andMers398122878
23andMe allrs398122878
SNP Nexus

SNPshotrs398122878
SNPdbers398122878
MSV3drs398122878
GWAS Ctlgrs398122878
Max Magnitude0
ClinVar
Risk rs398122878(;)
Alt rs398122878(;)
Reference rs398122878(TCTG;TCTG)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118375413_118375416delGTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030721.28,