rs727503776

Orientation

minus

Stabilized

minus

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

Make rs727503776(C;T)

Make rs727503776(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

53415158

Gene

SMC1A

is a	snp
is	mentioned by
dbSNP	rs727503776
dbSNP (classic)	rs727503776
ClinGen	rs727503776
ebi	rs727503776
HLI	rs727503776
Exac	rs727503776
Gnomad	rs727503776
Varsome	rs727503776
LitVar	rs727503776
Map	rs727503776
PheGenI	rs727503776
Biobank	rs727503776
1000 genomes	rs727503776
hgdp	rs727503776
ensembl	rs727503776
geneview	rs727503776
scholar	rs727503776
google	rs727503776
pharmgkb	rs727503776
gwascentral	rs727503776
openSNP	rs727503776
23andMe	rs727503776
SNPshot	rs727503776
SNPdbe	rs727503776
MSV3d	rs727503776
GWAS Ctlg	rs727503776

Max Magnitude

0

ClinVar
Risk	rs727503776(T;T)
Alt	rs727503776(T;T)
Reference	Rs727503776(C;C)
Significance	Pathogenic
Disease	Wiedemann-Steiner syndrome
Variation	info
Gene	SMC1A
CLNDBN	Wiedemann-Steiner syndrome
Reversed	1
HGVS	NC_000023.10:g.53442107G>A
CLNSRC
CLNACC	RCV000157052.1,