rs587784423

Orientation

minus

Stabilized

minus

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

Make rs587784423(A;G)

Make rs587784423(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53413140

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs587784423
dbSNP (classic)	rs587784423
ClinGen	rs587784423
ebi	rs587784423
HLI	rs587784423
Exac	rs587784423
Gnomad	rs587784423
Varsome	rs587784423
LitVar	rs587784423
Map	rs587784423
PheGenI	rs587784423
Biobank	rs587784423
1000 genomes	rs587784423
hgdp	rs587784423
ensembl	rs587784423
geneview	rs587784423
scholar	rs587784423
google	rs587784423
pharmgkb	rs587784423
gwascentral	rs587784423
openSNP	rs587784423
23andMe	rs587784423
SNPshot	rs587784423
SNPdbe	rs587784423
MSV3d	rs587784423
GWAS Ctlg	rs587784423

Max Magnitude

0

ClinVar
Risk	rs587784423(G;G)
Alt	rs587784423(G;G)
Reference	Rs587784423(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.53440090T>C
CLNSRC
CLNACC	RCV000147572.1,