rs886042417

Orientation

plus

Stabilized

plus

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

Chromosome

18

Position

2743929

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs886042417
dbSNP (classic)	rs886042417
ClinGen	rs886042417
ebi	rs886042417
HLI	rs886042417
Exac	rs886042417
Gnomad	rs886042417
Varsome	rs886042417
LitVar	rs886042417
Map	rs886042417
PheGenI	rs886042417
Biobank	rs886042417
1000 genomes	rs886042417
hgdp	rs886042417
ensembl	rs886042417
geneview	rs886042417
scholar	rs886042417
google	rs886042417
pharmgkb	rs886042417
gwascentral	rs886042417
openSNP	rs886042417
23andMe	rs886042417
SNPshot	rs886042417
SNPdbe	rs886042417
MSV3d	rs886042417
GWAS Ctlg	rs886042417

Max Magnitude

0

ClinVar
Risk	rs886042417(A;A)
Alt	rs886042417(A;A)
Reference	Rs886042417(G;G)
Significance	Pathogenic
Disease	Facioscapulohumeral muscular dystrophy 2
Variation	info
Gene	SMCHD1
CLNDBN	Facioscapulohumeral muscular dystrophy 2
Reversed	0
HGVS	NC_000018.9:g.2743927G>A
CLNSRC
CLNACC	RCV000356100.1,