rs397518422

Orientation

plus

Stabilized

plus

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

Make rs397518422(C;T)

Make rs397518422(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

2700851

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs397518422
dbSNP (classic)	rs397518422
ClinGen	rs397518422
ebi	rs397518422
HLI	rs397518422
Exac	rs397518422
Gnomad	rs397518422
Varsome	rs397518422
LitVar	rs397518422
Map	rs397518422
PheGenI	rs397518422
Biobank	rs397518422
1000 genomes	rs397518422
hgdp	rs397518422
ensembl	rs397518422
geneview	rs397518422
scholar	rs397518422
google	rs397518422
pharmgkb	rs397518422
gwascentral	rs397518422
openSNP	rs397518422
23andMe	rs397518422
SNPshot	rs397518422
SNPdbe	rs397518422
MSV3d	rs397518422
GWAS Ctlg	rs397518422

Max Magnitude

0

ClinVar
Risk	rs397518422(T;T)
Alt	rs397518422(T;T)
Reference	Rs397518422(C;C)
Significance	Pathogenic
Disease	Facioscapulohumeral muscular dystrophy 2
Variation	info
Gene	SMCHD1
CLNDBN	Facioscapulohumeral muscular dystrophy 2
Reversed	0
HGVS	NC_000018.9:g.2700849C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000074384.4,