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rs730882259

From SNPedia

Orientationplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs730882259(-;-)
Make rs730882259(-;AAG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position169510359
GeneKLHL41
is asnp
is mentioned by
dbSNPrs730882259
ebirs730882259
HLIrs730882259
Exacrs730882259
Varsomers730882259
Maprs730882259
PheGenIrs730882259
hapmaprs730882259
1000 genomesrs730882259
hgdprs730882259
ensemblrs730882259
gopubmedrs730882259
geneviewrs730882259
scholarrs730882259
googlers730882259
pharmgkbrs730882259
gwascentralrs730882259
openSNPrs730882259
23andMers730882259
23andMe allrs730882259
SNP Nexus

SNPshotrs730882259
SNPdbers730882259
MSV3drs730882259
GWAS Ctlgrs730882259
Max Magnitude0
ClinVar
Risk rs730882259(;)
Alt rs730882259(;)
Reference rs730882259(AAG;AAG)
Significance Pathogenic
Disease Nemaline myopathy 9
Variation info
Gene KLHL41
CLNDBN Nemaline myopathy 9
Reversed 0
HGVS NC_000002.11:g.170366869_170366871delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000162077.3,