rs1060502612

Orientation

plus

Stabilized

plus

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

Make rs1060502612(A;A)

Make rs1060502612(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

154379730

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs1060502612
dbSNP (classic)	rs1060502612
ClinGen	rs1060502612
ebi	rs1060502612
HLI	rs1060502612
Exac	rs1060502612
Gnomad	rs1060502612
Varsome	rs1060502612
LitVar	rs1060502612
Map	rs1060502612
PheGenI	rs1060502612
Biobank	rs1060502612
1000 genomes	rs1060502612
hgdp	rs1060502612
ensembl	rs1060502612
geneview	rs1060502612
scholar	rs1060502612
google	rs1060502612
pharmgkb	rs1060502612
gwascentral	rs1060502612
openSNP	rs1060502612
23andMe	rs1060502612
SNPshot	rs1060502612
SNPdbe	rs1060502612
MSV3d	rs1060502612
GWAS Ctlg	rs1060502612

Max Magnitude

0

ClinVar
Risk	rs1060502612(A;A)
Alt	rs1060502612(A;A)
Reference	Rs1060502612(C;C)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy 1
Variation	info
Gene	EMD
CLNDBN	Emery-Dreifuss muscular dystrophy 1, X-linked
Reversed	0
HGVS	NC_000023.10:g.153608090C>A
CLNSRC
CLNACC	RCV000458523.1,