rs397509419

Orientation

plus

Stabilized

plus

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

Make rs397509419(A;A)

Make rs397509419(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

42689029

Gene

KLHL40

is a	snp
is	mentioned by
dbSNP	rs397509419
dbSNP (classic)	rs397509419
ClinGen	rs397509419
ebi	rs397509419
HLI	rs397509419
Exac	rs397509419
Gnomad	rs397509419
Varsome	rs397509419
LitVar	rs397509419
Map	rs397509419
PheGenI	rs397509419
Biobank	rs397509419
1000 genomes	rs397509419
hgdp	rs397509419
ensembl	rs397509419
geneview	rs397509419
scholar	rs397509419
google	rs397509419
pharmgkb	rs397509419
gwascentral	rs397509419
openSNP	rs397509419
23andMe	rs397509419
SNPshot	rs397509419
SNPdbe	rs397509419
MSV3d	rs397509419
GWAS Ctlg	rs397509419

Max Magnitude

0

ClinVar
Risk	rs397509419(A;A)
Alt	rs397509419(A;A)
Reference	Rs397509419(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 8
Variation	info
Gene	KLHL40
CLNDBN	Nemaline myopathy 8
Reversed	0
HGVS	NC_000003.11:g.42730521G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054410.2,