rs587784405

Orientation

minus

Stabilized

minus

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

Make rs587784405(A;G)

Make rs587784405(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53409150

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs587784405
dbSNP (classic)	rs587784405
ClinGen	rs587784405
ebi	rs587784405
HLI	rs587784405
Exac	rs587784405
Gnomad	rs587784405
Varsome	rs587784405
LitVar	rs587784405
Map	rs587784405
PheGenI	rs587784405
Biobank	rs587784405
1000 genomes	rs587784405
hgdp	rs587784405
ensembl	rs587784405
geneview	rs587784405
scholar	rs587784405
google	rs587784405
pharmgkb	rs587784405
gwascentral	rs587784405
openSNP	rs587784405
23andMe	rs587784405
SNPshot	rs587784405
SNPdbe	rs587784405
MSV3d	rs587784405
GWAS Ctlg	rs587784405

Max Magnitude

0

ClinVar
Risk	rs587784405(G;G)
Alt	rs587784405(G;G)
Reference	Rs587784405(A;A)
Significance	Probable-Pathogenic
Disease	Congenital muscular hypertrophy-cerebral syndrome
Variation	info
Gene	SMC1A
CLNDBN	Congenital muscular hypertrophy-cerebral syndrome
Reversed	1
HGVS	NC_000023.10:g.53436081T>C
CLNSRC
CLNACC	RCV000147551.1,