rs797045069

Orientation

minus

Stabilized

minus

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

Make rs797045069(-;-)

Make rs797045069(-;A)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

53399604

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs797045069
dbSNP (classic)	rs797045069
ClinGen	rs797045069
ebi	rs797045069
HLI	rs797045069
Exac	rs797045069
Gnomad	rs797045069
Varsome	rs797045069
LitVar	rs797045069
Map	rs797045069
PheGenI	rs797045069
Biobank	rs797045069
1000 genomes	rs797045069
hgdp	rs797045069
ensembl	rs797045069
geneview	rs797045069
scholar	rs797045069
google	rs797045069
pharmgkb	rs797045069
gwascentral	rs797045069
openSNP	rs797045069
23andMe	rs797045069
SNPshot	rs797045069
SNPdbe	rs797045069
MSV3d	rs797045069
GWAS Ctlg	rs797045069

Max Magnitude

0

ClinVar
Risk	rs797045069(-;-)
Alt	rs797045069(-;-)
Reference	Rs797045069(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.53426526delT
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191130.1,