rs797045991

Orientation

minus

Stabilized

minus

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

Make rs797045991(-;-)

Make rs797045991(-;AAG)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

53411871

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs797045991
dbSNP (classic)	rs797045991
ClinGen	rs797045991
ebi	rs797045991
HLI	rs797045991
Exac	rs797045991
Gnomad	rs797045991
Varsome	rs797045991
LitVar	rs797045991
Map	rs797045991
PheGenI	rs797045991
Biobank	rs797045991
1000 genomes	rs797045991
hgdp	rs797045991
ensembl	rs797045991
geneview	rs797045991
scholar	rs797045991
google	rs797045991
pharmgkb	rs797045991
gwascentral	rs797045991
openSNP	rs797045991
23andMe	rs797045991
SNPshot	rs797045991
SNPdbe	rs797045991
MSV3d	rs797045991
GWAS Ctlg	rs797045991

Max Magnitude

0

ClinVar
Risk	rs797045991(-;-)
Alt	rs797045991(-;-)
Reference	Rs797045991(AAG;AAG)
Significance	Probable-Pathogenic
Disease	Congenital muscular hypertrophy-cerebral syndrome
Variation	info
Gene	SMC1A
CLNDBN	Congenital muscular hypertrophy-cerebral syndrome
Reversed	1
HGVS	NC_000023.10:g.53438821_53438823delCTT
CLNSRC
CLNACC	RCV000195085.1,