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rs879255230

From SNPedia

Orientationminus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs879255230(-;-)
Make rs879255230(-;CTC)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position10640086
GeneMYH3
is asnp
is mentioned by
dbSNPrs879255230
ebirs879255230
HLIrs879255230
Exacrs879255230
Varsomers879255230
Maprs879255230
PheGenIrs879255230
hapmaprs879255230
1000 genomesrs879255230
hgdprs879255230
ensemblrs879255230
gopubmedrs879255230
geneviewrs879255230
scholarrs879255230
googlers879255230
pharmgkbrs879255230
gwascentralrs879255230
openSNPrs879255230
23andMers879255230
23andMe allrs879255230
SNP Nexus

SNPshotrs879255230
SNPdbers879255230
MSV3drs879255230
GWAS Ctlgrs879255230
Max Magnitude0
ClinVar
Risk rs879255230(;)
Alt rs879255230(;)
Reference rs879255230(CTC;CTC)
Significance Pathogenic
Disease Distal arthrogryposis type 2B
Variation info
Gene MYH3
CLNDBN Distal arthrogryposis type 2B
Reversed 1
HGVS NC_000017.10:g.10543403_10543405delGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000015205.26,