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rs730882235

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882235(-;-)
Make rs730882235(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position169510419
GeneKLHL41
is asnp
is mentioned by
dbSNPrs730882235
ebirs730882235
HLIrs730882235
Exacrs730882235
Varsomers730882235
Maprs730882235
PheGenIrs730882235
hapmaprs730882235
1000 genomesrs730882235
hgdprs730882235
ensemblrs730882235
gopubmedrs730882235
geneviewrs730882235
scholarrs730882235
googlers730882235
pharmgkbrs730882235
gwascentralrs730882235
openSNPrs730882235
23andMers730882235
23andMe allrs730882235
SNP Nexus

SNPshotrs730882235
SNPdbers730882235
MSV3drs730882235
GWAS Ctlgrs730882235
Max Magnitude0
ClinVar
Risk rs730882235(;)
Alt rs730882235(;)
Reference rs730882235(A;A)
Significance Pathogenic
Disease Nemaline myopathy 9 Nemaline myopathy
Variation info
Gene KLHL41
CLNDBN Nemaline myopathy 9 Nemaline myopathy
Reversed 0
HGVS NC_000002.11:g.170366929delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000162076.4, RCV000162159.1,