rs1057518670

Orientation

minus

Stabilized

minus

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

Make rs1057518670(C;G)

Make rs1057518670(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

53415163

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs1057518670
dbSNP (classic)	rs1057518670
ClinGen	rs1057518670
ebi	rs1057518670
HLI	rs1057518670
Exac	rs1057518670
Gnomad	rs1057518670
Varsome	rs1057518670
LitVar	rs1057518670
Map	rs1057518670
PheGenI	rs1057518670
Biobank	rs1057518670
1000 genomes	rs1057518670
hgdp	rs1057518670
ensembl	rs1057518670
geneview	rs1057518670
scholar	rs1057518670
google	rs1057518670
pharmgkb	rs1057518670
gwascentral	rs1057518670
openSNP	rs1057518670
23andMe	rs1057518670
SNPshot	rs1057518670
SNPdbe	rs1057518670
MSV3d	rs1057518670
GWAS Ctlg	rs1057518670

Max Magnitude

0

ClinVar
Risk	rs1057518670(G;G)
Alt	rs1057518670(G;G)
Reference	Rs1057518670(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.53442112G>C
CLNSRC
CLNACC	RCV000415358.1,