rs387907319

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ATATG;ATATG)	0	common in clinvar
(I;I)	0	common genotype
(TGATA;TGATA)	0	common in clinvar

Make rs387907319(-;-)

Make rs387907319(-;TGATA)

Reference

GRCh38 38.1/141

Chromosome

18

Position

2698001

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs387907319
dbSNP (classic)	rs387907319
ClinGen	rs387907319
ebi	rs387907319
HLI	rs387907319
Exac	rs387907319
Gnomad	rs387907319
Varsome	rs387907319
LitVar	rs387907319
Map	rs387907319
PheGenI	rs387907319
Biobank	rs387907319
1000 genomes	rs387907319
hgdp	rs387907319
ensembl	rs387907319
geneview	rs387907319
scholar	rs387907319
google	rs387907319
pharmgkb	rs387907319
gwascentral	rs387907319
openSNP	rs387907319
23andMe	rs387907319
SNPshot	rs387907319
SNPdbe	rs387907319
MSV3d	rs387907319
GWAS Ctlg	rs387907319

Max Magnitude

0

ClinVar
Risk	rs387907319(-;-)
Alt	rs387907319(-;-)
Reference	Rs387907319(ATATG;ATATG)
Significance	Pathogenic
Disease	Facioscapulohumeral muscular dystrophy 2
Variation	info
Gene	SMCHD1
CLNDBN	Facioscapulohumeral muscular dystrophy 2
Reversed	0
HGVS	NC_000018.9:g.2697999_2698003delTGATA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033082.5,