rs1057519614

Orientation

plus

Stabilized

plus

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

Make rs1057519614(-;-)

Make rs1057519614(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2700879

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519614
dbSNP (classic)	rs1057519614
ClinGen	rs1057519614
ebi	rs1057519614
HLI	rs1057519614
Exac	rs1057519614
Gnomad	rs1057519614
Varsome	rs1057519614
LitVar	rs1057519614
Map	rs1057519614
PheGenI	rs1057519614
Biobank	rs1057519614
1000 genomes	rs1057519614
hgdp	rs1057519614
ensembl	rs1057519614
geneview	rs1057519614
scholar	rs1057519614
google	rs1057519614
pharmgkb	rs1057519614
gwascentral	rs1057519614
openSNP	rs1057519614
23andMe	rs1057519614
SNPshot	rs1057519614
SNPdbe	rs1057519614
MSV3d	rs1057519614
GWAS Ctlg	rs1057519614

Max Magnitude

0

ClinVar
Risk	rs1057519614(-;-)
Alt	rs1057519614(-;-)
Reference	Rs1057519614(A;A)
Significance	Pathogenic
Disease	Facioscapulohumeral muscular dystrophy 2
Variation	info
Gene	SMCHD1
CLNDBN	Facioscapulohumeral muscular dystrophy 2
Reversed	0
HGVS	NC_000018.9:g.2700877delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033084.4,