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rs869320749

From SNPedia

Orientationminus
Geno Mag Summary
(TCC;TCC) 0 common in clinvar
Make rs869320749(-;-)
Make rs869320749(-;TCC)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position10648563
GeneMYH3
is asnp
is mentioned by
dbSNPrs869320749
ebirs869320749
HLIrs869320749
Exacrs869320749
Varsomers869320749
Maprs869320749
PheGenIrs869320749
hapmaprs869320749
1000 genomesrs869320749
hgdprs869320749
ensemblrs869320749
gopubmedrs869320749
geneviewrs869320749
scholarrs869320749
googlers869320749
pharmgkbrs869320749
gwascentralrs869320749
openSNPrs869320749
23andMers869320749
23andMe allrs869320749
SNP Nexus

SNPshotrs869320749
SNPdbers869320749
MSV3drs869320749
GWAS Ctlgrs869320749
Max Magnitude0
ClinVar
Risk rs869320749(;)
Alt rs869320749(;)
Reference rs869320749(TCC;TCC)
Significance Pathogenic
Disease Distal arthrogryposis type 8
Variation info
Gene MYH3
CLNDBN Distal arthrogryposis type 8
Reversed 1
HGVS NC_000017.10:g.10551880_10551882delGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000185628.3,