rs397514623

Orientation

plus

Stabilized

plus

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

Make rs397514623(C;T)

Make rs397514623(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

2707567

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs397514623
dbSNP (classic)	rs397514623
ClinGen	rs397514623
ebi	rs397514623
HLI	rs397514623
Exac	rs397514623
Gnomad	rs397514623
Varsome	rs397514623
LitVar	rs397514623
Map	rs397514623
PheGenI	rs397514623
Biobank	rs397514623
1000 genomes	rs397514623
hgdp	rs397514623
ensembl	rs397514623
geneview	rs397514623
scholar	rs397514623
google	rs397514623
pharmgkb	rs397514623
gwascentral	rs397514623
openSNP	rs397514623
23andMe	rs397514623
SNPshot	rs397514623
SNPdbe	rs397514623
MSV3d	rs397514623
GWAS Ctlg	rs397514623

Max Magnitude

0

ClinVar
Risk	rs397514623(T;T)
Alt	rs397514623(T;T)
Reference	Rs397514623(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.2707565C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033083.3,