rs886044914

Orientation

plus

Stabilized

plus

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

Chromosome

18

Position

2697988

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs886044914
dbSNP (classic)	rs886044914
ClinGen	rs886044914
ebi	rs886044914
HLI	rs886044914
Exac	rs886044914
Gnomad	rs886044914
Varsome	rs886044914
LitVar	rs886044914
Map	rs886044914
PheGenI	rs886044914
Biobank	rs886044914
1000 genomes	rs886044914
hgdp	rs886044914
ensembl	rs886044914
geneview	rs886044914
scholar	rs886044914
google	rs886044914
pharmgkb	rs886044914
gwascentral	rs886044914
openSNP	rs886044914
23andMe	rs886044914
SNPshot	rs886044914
SNPdbe	rs886044914
MSV3d	rs886044914
GWAS Ctlg	rs886044914

Max Magnitude

0

ClinVar
Risk	rs886044914(-;-)
Alt	rs886044914(-;-)
Reference	Rs886044914(ATC;ATC)
Significance	Probable-Pathogenic
Disease	Scapulohumeral muscular dystrophy
Variation	info
Gene	SMCHD1
CLNDBN	Scapulohumeral muscular dystrophy
Reversed	0
HGVS	NC_000018.9:g.2697986_2697988delATC
CLNSRC
CLNACC	RCV000361350.1,