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rs121434590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434590(A;A)
Make rs121434590(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position10406924
GeneMYH8
is asnp
is mentioned by
dbSNPrs121434590
ebirs121434590
HLIrs121434590
Exacrs121434590
Varsomers121434590
Maprs121434590
PheGenIrs121434590
hapmaprs121434590
1000 genomesrs121434590
hgdprs121434590
ensemblrs121434590
gopubmedrs121434590
geneviewrs121434590
scholarrs121434590
googlers121434590
pharmgkbrs121434590
gwascentralrs121434590
openSNPrs121434590
23andMers121434590
23andMe allrs121434590
SNP Nexus

SNPshotrs121434590
SNPdbers121434590
MSV3drs121434590
GWAS Ctlgrs121434590
Merged fromRs28932773
Max Magnitude0
OMIM160741
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434590(A;A)
Alt rs121434590(A;A)
Reference rs121434590(G;G)
Significance Pathogenic
Disease Carney complex variant Hecht syndrome
Variation info
Gene MYHAS MYH8
CLNDBN Carney complex variant Hecht syndrome
Reversed 1
HGVS NC_000017.10:g.10310241C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015197.25, RCV000015198.25,