rs863225459

Orientation

minus

Stabilized

minus

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

Make rs863225459(-;GGCC)

Make rs863225459(GGCC;GGCC)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

53380685

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs863225459
dbSNP (classic)	rs863225459
ClinGen	rs863225459
ebi	rs863225459
HLI	rs863225459
Exac	rs863225459
Gnomad	rs863225459
Varsome	rs863225459
LitVar	rs863225459
Map	rs863225459
PheGenI	rs863225459
Biobank	rs863225459
1000 genomes	rs863225459
hgdp	rs863225459
ensembl	rs863225459
geneview	rs863225459
scholar	rs863225459
google	rs863225459
pharmgkb	rs863225459
gwascentral	rs863225459
openSNP	rs863225459
23andMe	rs863225459
SNPshot	rs863225459
SNPdbe	rs863225459
MSV3d	rs863225459
GWAS Ctlg	rs863225459

Max Magnitude

0

ClinVar
Risk	rs863225459(GGCC;GGCC)
Alt	rs863225459(GGCC;GGCC)
Reference	Rs863225459(-;-)
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.53407607_53407610dupGGCC
CLNSRC
CLNACC	RCV000202430.1,