rs757481230
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs757481230(A;A) |
Make rs757481230(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 50169121 |
Gene | SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs757481230 |
dbSNP (classic) | rs757481230 |
ClinGen | rs757481230 |
ebi | rs757481230 |
HLI | rs757481230 |
Exac | rs757481230 |
Gnomad | rs757481230 |
Varsome | rs757481230 |
LitVar | rs757481230 |
Map | rs757481230 |
PheGenI | rs757481230 |
Biobank | rs757481230 |
1000 genomes | rs757481230 |
hgdp | rs757481230 |
ensembl | rs757481230 |
geneview | rs757481230 |
scholar | rs757481230 |
rs757481230 | |
pharmgkb | rs757481230 |
gwascentral | rs757481230 |
openSNP | rs757481230 |
23andMe | rs757481230 |
SNPshot | rs757481230 |
SNPdbe | rs757481230 |
MSV3d | rs757481230 |
GWAS Ctlg | rs757481230 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757481230(A;A) rs757481230(T;T) |
Alt | rs757481230(A;A) rs757481230(T;T) |
Reference | Rs757481230(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | SGCA |
CLNDBN | not specified not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.48246482C>A; NC_000017.10:g.48246482C>T |
CLNSRC | |
CLNACC | RCV000375203.1, RCV000442753.1, RCV000478809.1, |