rs397509421

Orientation

plus

Stabilized

plus

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

Make rs397509421(C;C)

Make rs397509421(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

42690863

Gene

KLHL40

is a	snp
is	mentioned by
dbSNP	rs397509421
dbSNP (classic)	rs397509421
ClinGen	rs397509421
ebi	rs397509421
HLI	rs397509421
Exac	rs397509421
Gnomad	rs397509421
Varsome	rs397509421
LitVar	rs397509421
Map	rs397509421
PheGenI	rs397509421
Biobank	rs397509421
1000 genomes	rs397509421
hgdp	rs397509421
ensembl	rs397509421
geneview	rs397509421
scholar	rs397509421
google	rs397509421
pharmgkb	rs397509421
gwascentral	rs397509421
openSNP	rs397509421
23andMe	rs397509421
SNPshot	rs397509421
SNPdbe	rs397509421
MSV3d	rs397509421
GWAS Ctlg	rs397509421

Max Magnitude

0

ClinVar
Risk	rs397509421(A;A) rs397509421(C;C)
Alt	rs397509421(A;A) rs397509421(C;C)
Reference	Rs397509421(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 8
Variation	info
Gene	KLHL40
CLNDBN	Nemaline myopathy 8
Reversed	0
HGVS	NC_000003.11:g.42732355G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054413.3,