rs727503773
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
Make rs727503773(-;-) |
Make rs727503773(-;AAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 53412950 |
Gene | SMC1A |
is a | snp |
is | mentioned by |
dbSNP | rs727503773 |
dbSNP (classic) | rs727503773 |
ClinGen | rs727503773 |
ebi | rs727503773 |
HLI | rs727503773 |
Exac | rs727503773 |
Gnomad | rs727503773 |
Varsome | rs727503773 |
LitVar | rs727503773 |
Map | rs727503773 |
PheGenI | rs727503773 |
Biobank | rs727503773 |
1000 genomes | rs727503773 |
hgdp | rs727503773 |
ensembl | rs727503773 |
geneview | rs727503773 |
scholar | rs727503773 |
rs727503773 | |
pharmgkb | rs727503773 |
gwascentral | rs727503773 |
openSNP | rs727503773 |
23andMe | rs727503773 |
SNPshot | rs727503773 |
SNPdbe | rs727503773 |
MSV3d | rs727503773 |
GWAS Ctlg | rs727503773 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503773(-;-) |
Alt | rs727503773(-;-) |
Reference | Rs727503773(AAG;AAG) |
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.53439900_53439902delCTT |
CLNSRC | |
CLNACC | RCV000157049.2, |