rs387907073

Orientation

plus

Stabilized

plus

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

Make rs387907073(C;C)

Make rs387907073(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

127410447

Gene

MEGF10

is a	snp
is	mentioned by
dbSNP	rs387907073
dbSNP (classic)	rs387907073
ClinGen	rs387907073
ebi	rs387907073
HLI	rs387907073
Exac	rs387907073
Gnomad	rs387907073
Varsome	rs387907073
LitVar	rs387907073
Map	rs387907073
PheGenI	rs387907073
Biobank	rs387907073
1000 genomes	rs387907073
hgdp	rs387907073
ensembl	rs387907073
geneview	rs387907073
scholar	rs387907073
google	rs387907073
pharmgkb	rs387907073
gwascentral	rs387907073
openSNP	rs387907073
23andMe	rs387907073
SNPshot	rs387907073
SNPdbe	rs387907073
MSV3d	rs387907073
GWAS Ctlg	rs387907073

Max Magnitude

0

ClinVar
Risk	rs387907073(C;C)
Alt	rs387907073(C;C)
Reference	Rs387907073(T;T)
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.126746139T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023957.4,