rs587784418

Orientation

minus

Stabilized

minus

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

Make rs587784418(A;G)

Make rs587784418(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53382537

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs587784418
dbSNP (classic)	rs587784418
ClinGen	rs587784418
ebi	rs587784418
HLI	rs587784418
Exac	rs587784418
Gnomad	rs587784418
Varsome	rs587784418
LitVar	rs587784418
Map	rs587784418
PheGenI	rs587784418
Biobank	rs587784418
1000 genomes	rs587784418
hgdp	rs587784418
ensembl	rs587784418
geneview	rs587784418
scholar	rs587784418
google	rs587784418
pharmgkb	rs587784418
gwascentral	rs587784418
openSNP	rs587784418
23andMe	rs587784418
SNPshot	rs587784418
SNPdbe	rs587784418
MSV3d	rs587784418
GWAS Ctlg	rs587784418

Max Magnitude

0

ClinVar
Risk	rs587784418(G;G)
Alt	rs587784418(G;G)
Reference	Rs587784418(A;A)
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.53409458T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000147566.1,