rs61753971
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61753971(A;A) |
Make rs61753971(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154030546 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61753971 |
dbSNP (classic) | rs61753971 |
ClinGen | rs61753971 |
ebi | rs61753971 |
HLI | rs61753971 |
Exac | rs61753971 |
Gnomad | rs61753971 |
Varsome | rs61753971 |
LitVar | rs61753971 |
Map | rs61753971 |
PheGenI | rs61753971 |
Biobank | rs61753971 |
1000 genomes | rs61753971 |
hgdp | rs61753971 |
ensembl | rs61753971 |
geneview | rs61753971 |
scholar | rs61753971 |
rs61753971 | |
pharmgkb | rs61753971 |
gwascentral | rs61753971 |
openSNP | rs61753971 |
23andMe | rs61753971 |
SNPshot | rs61753971 |
SNPdbe | rs61753971 |
MSV3d | rs61753971 |
GWAS Ctlg | rs61753971 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753971(A;A) |
Alt | rs61753971(A;A) |
Reference | Rs61753971(G;G) |
Significance | Other |
Disease | Encephalopathy not specified |
Variation | info |
Gene | MECP2 |
CLNDBN | Encephalopathy, neonatal severe, due to mecp2 mutation not specified |
Reversed | 1 |
HGVS | NC_000023.10:g.153295997C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012604.15, RCV000132982.3, |