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rs730882257

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882257(ACTC;ACTC)
Make rs730882257(ACTC;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position169510237
GeneKLHL41
is asnp
is mentioned by
dbSNPrs730882257
ebirs730882257
HLIrs730882257
Exacrs730882257
Varsomers730882257
Maprs730882257
PheGenIrs730882257
hapmaprs730882257
1000 genomesrs730882257
hgdprs730882257
ensemblrs730882257
gopubmedrs730882257
geneviewrs730882257
scholarrs730882257
googlers730882257
pharmgkbrs730882257
gwascentralrs730882257
openSNPrs730882257
23andMers730882257
23andMe allrs730882257
SNP Nexus

SNPshotrs730882257
SNPdbers730882257
MSV3drs730882257
GWAS Ctlgrs730882257
Max Magnitude0
ClinVar
Risk rs730882257(ACTC;ACTC)
Alt rs730882257(ACTC;ACTC)
Reference rs730882257(T;T)
Significance Pathogenic
Disease Nemaline myopathy 9
Variation info
Gene KLHL41
CLNDBN Nemaline myopathy 9
Reversed 0
HGVS NC_000002.11:g.170366747delTinsACTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000162074.4,