rs886043146

Orientation

plus

Stabilized

plus

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

Chromosome

18

Position

2705693

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs886043146
dbSNP (classic)	rs886043146
ClinGen	rs886043146
ebi	rs886043146
HLI	rs886043146
Exac	rs886043146
Gnomad	rs886043146
Varsome	rs886043146
LitVar	rs886043146
Map	rs886043146
PheGenI	rs886043146
Biobank	rs886043146
1000 genomes	rs886043146
hgdp	rs886043146
ensembl	rs886043146
geneview	rs886043146
scholar	rs886043146
google	rs886043146
pharmgkb	rs886043146
gwascentral	rs886043146
openSNP	rs886043146
23andMe	rs886043146
SNPshot	rs886043146
SNPdbe	rs886043146
MSV3d	rs886043146
GWAS Ctlg	rs886043146

Max Magnitude

0

ClinVar
Risk	rs886043146(A;A)
Alt	rs886043146(A;A)
Reference	Rs886043146(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.2705691G>A
CLNSRC
CLNACC	RCV000297808.1,