rs587784409

Orientation

minus

Stabilized

minus

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

Make rs587784409(C;T)

Make rs587784409(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53405077

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs587784409
dbSNP (classic)	rs587784409
ClinGen	rs587784409
ebi	rs587784409
HLI	rs587784409
Exac	rs587784409
Gnomad	rs587784409
Varsome	rs587784409
LitVar	rs587784409
Map	rs587784409
PheGenI	rs587784409
Biobank	rs587784409
1000 genomes	rs587784409
hgdp	rs587784409
ensembl	rs587784409
geneview	rs587784409
scholar	rs587784409
google	rs587784409
pharmgkb	rs587784409
gwascentral	rs587784409
openSNP	rs587784409
23andMe	rs587784409
SNPshot	rs587784409
SNPdbe	rs587784409
MSV3d	rs587784409
GWAS Ctlg	rs587784409

Max Magnitude

0

ClinVar
Risk	rs587784409(T;T)
Alt	rs587784409(T;T)
Reference	Rs587784409(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.53432009G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000147557.1,