rs387907074

Orientation

plus

Stabilized

plus

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

Make rs387907074(C;T)

Make rs387907074(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

127339214

Gene

MEGF10

is a	snp
is	mentioned by
dbSNP	rs387907074
dbSNP (classic)	rs387907074
ClinGen	rs387907074
ebi	rs387907074
HLI	rs387907074
Exac	rs387907074
Gnomad	rs387907074
Varsome	rs387907074
LitVar	rs387907074
Map	rs387907074
PheGenI	rs387907074
Biobank	rs387907074
1000 genomes	rs387907074
hgdp	rs387907074
ensembl	rs387907074
geneview	rs387907074
scholar	rs387907074
google	rs387907074
pharmgkb	rs387907074
gwascentral	rs387907074
openSNP	rs387907074
23andMe	rs387907074
SNPshot	rs387907074
SNPdbe	rs387907074
MSV3d	rs387907074
GWAS Ctlg	rs387907074

Max Magnitude

0

ClinVar
Risk	rs387907074(T;T)
Alt	rs387907074(T;T)
Reference	Rs387907074(C;C)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	MEGF10
CLNDBN	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
Reversed	0
HGVS	NC_000005.9:g.126674906C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023958.4,