rs587784408

Orientation

minus

Stabilized

minus

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

Make rs587784408(A;A)

Make rs587784408(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53405130

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs587784408
dbSNP (classic)	rs587784408
ClinGen	rs587784408
ebi	rs587784408
HLI	rs587784408
Exac	rs587784408
Gnomad	rs587784408
Varsome	rs587784408
LitVar	rs587784408
Map	rs587784408
PheGenI	rs587784408
Biobank	rs587784408
1000 genomes	rs587784408
hgdp	rs587784408
ensembl	rs587784408
geneview	rs587784408
scholar	rs587784408
google	rs587784408
pharmgkb	rs587784408
gwascentral	rs587784408
openSNP	rs587784408
23andMe	rs587784408
SNPshot	rs587784408
SNPdbe	rs587784408
MSV3d	rs587784408
GWAS Ctlg	rs587784408

Max Magnitude

0

ClinVar
Risk	rs587784408(A;A)
Alt	rs587784408(A;A)
Reference	Rs587784408(G;G)
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.53432062C>T
CLNSRC
CLNACC	RCV000147556.1,