rs587784421

Orientation

minus

Stabilized

minus

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

Make rs587784421(C;T)

Make rs587784421(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53413300

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs587784421
dbSNP (classic)	rs587784421
ClinGen	rs587784421
ebi	rs587784421
HLI	rs587784421
Exac	rs587784421
Gnomad	rs587784421
Varsome	rs587784421
LitVar	rs587784421
Map	rs587784421
PheGenI	rs587784421
Biobank	rs587784421
1000 genomes	rs587784421
hgdp	rs587784421
ensembl	rs587784421
geneview	rs587784421
scholar	rs587784421
google	rs587784421
pharmgkb	rs587784421
gwascentral	rs587784421
openSNP	rs587784421
23andMe	rs587784421
SNPshot	rs587784421
SNPdbe	rs587784421
MSV3d	rs587784421
GWAS Ctlg	rs587784421

Max Magnitude

0

ClinVar
Risk	rs587784421(T;T)
Alt	rs587784421(T;T)
Reference	Rs587784421(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.53440250G>A
CLNSRC
CLNACC	RCV000147570.1,