rs730882257

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs730882257(ACTC;ACTC)

Make rs730882257(ACTC;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

169510237

Gene

KLHL41

is a	snp
is	mentioned by
dbSNP	rs730882257
dbSNP (classic)	rs730882257
ClinGen	rs730882257
ebi	rs730882257
HLI	rs730882257
Exac	rs730882257
Gnomad	rs730882257
Varsome	rs730882257
LitVar	rs730882257
Map	rs730882257
PheGenI	rs730882257
Biobank	rs730882257
1000 genomes	rs730882257
hgdp	rs730882257
ensembl	rs730882257
geneview	rs730882257
scholar	rs730882257
google	rs730882257
pharmgkb	rs730882257
gwascentral	rs730882257
openSNP	rs730882257
23andMe	rs730882257
SNPshot	rs730882257
SNPdbe	rs730882257
MSV3d	rs730882257
GWAS Ctlg	rs730882257

Max Magnitude

0

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,