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rs730882260

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882260(C;T)
Make rs730882260(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position169514701
GeneKLHL41
is asnp
is mentioned by
dbSNPrs730882260
ebirs730882260
HLIrs730882260
Exacrs730882260
Varsomers730882260
Maprs730882260
PheGenIrs730882260
hapmaprs730882260
1000 genomesrs730882260
hgdprs730882260
ensemblrs730882260
gopubmedrs730882260
geneviewrs730882260
scholarrs730882260
googlers730882260
pharmgkbrs730882260
gwascentralrs730882260
openSNPrs730882260
23andMers730882260
23andMe allrs730882260
SNP Nexus

SNPshotrs730882260
SNPdbers730882260
MSV3drs730882260
GWAS Ctlgrs730882260
Max Magnitude0
ClinVar
Risk rs730882260(T;T)
Alt rs730882260(T;T)
Reference rs730882260(C;C)
Significance Pathogenic
Disease Nemaline myopathy 9
Variation info
Gene KLHL41
CLNDBN Nemaline myopathy 9
Reversed 0
HGVS NC_000002.11:g.170371211C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162078.4,