rs587784412

Orientation

minus

Stabilized

minus

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

Make rs587784412(C;T)

Make rs587784412(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53403618

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs587784412
dbSNP (classic)	rs587784412
ClinGen	rs587784412
ebi	rs587784412
HLI	rs587784412
Exac	rs587784412
Gnomad	rs587784412
Varsome	rs587784412
LitVar	rs587784412
Map	rs587784412
PheGenI	rs587784412
Biobank	rs587784412
1000 genomes	rs587784412
hgdp	rs587784412
ensembl	rs587784412
geneview	rs587784412
scholar	rs587784412
google	rs587784412
pharmgkb	rs587784412
gwascentral	rs587784412
openSNP	rs587784412
23andMe	rs587784412
SNPshot	rs587784412
SNPdbe	rs587784412
MSV3d	rs587784412
GWAS Ctlg	rs587784412

Max Magnitude

0

ClinVar
Risk	rs587784412(T;T)
Alt	rs587784412(T;T)
Reference	Rs587784412(C;C)
Significance	Pathogenic
Disease	Congenital muscular hypertrophy-cerebral syndrome
Variation	info
Gene	SMC1A
CLNDBN	Congenital muscular hypertrophy-cerebral syndrome
Reversed	1
HGVS	NC_000023.10:g.53430550G>A
CLNSRC
CLNACC	RCV000147560.1,