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rs730882258

From SNPedia

Orientationplus
Geno Mag Summary
(AAGGAAAT;AAGGAAAT) 0 common in clinvar
Make rs730882258(-;-)
Make rs730882258(-;AGGAAATA)
Make rs730882258(AGGAAATA;AGGAAATA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position169525623
GeneKLHL41
is asnp
is mentioned by
dbSNPrs730882258
ebirs730882258
HLIrs730882258
Exacrs730882258
Varsomers730882258
Maprs730882258
PheGenIrs730882258
hapmaprs730882258
1000 genomesrs730882258
hgdprs730882258
ensemblrs730882258
gopubmedrs730882258
geneviewrs730882258
scholarrs730882258
googlers730882258
pharmgkbrs730882258
gwascentralrs730882258
openSNPrs730882258
23andMers730882258
23andMe allrs730882258
SNP Nexus

SNPshotrs730882258
SNPdbers730882258
MSV3drs730882258
GWAS Ctlgrs730882258
Max Magnitude0
ClinVar
Risk rs730882258(;)
Alt rs730882258(;)
Reference rs730882258(AAGGAAAT;AAGGAAAT)
Significance Pathogenic
Disease Nemaline myopathy 9
Variation info
Gene KLHL41
CLNDBN Nemaline myopathy 9
Reversed 0
HGVS NC_000002.11:g.170382133_170382140delAGGAAATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000162075.3,