rs138410949
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs138410949(C;C) |
Make rs138410949(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 89631625 |
Gene | KIF7 |
is a | snp |
is | mentioned by |
dbSNP | rs138410949 |
dbSNP (classic) | rs138410949 |
ClinGen | rs138410949 |
ebi | rs138410949 |
HLI | rs138410949 |
Exac | rs138410949 |
Gnomad | rs138410949 |
Varsome | rs138410949 |
LitVar | rs138410949 |
Map | rs138410949 |
PheGenI | rs138410949 |
Biobank | rs138410949 |
1000 genomes | rs138410949 |
hgdp | rs138410949 |
ensembl | rs138410949 |
geneview | rs138410949 |
scholar | rs138410949 |
rs138410949 | |
pharmgkb | rs138410949 |
gwascentral | rs138410949 |
openSNP | rs138410949 |
23andMe | rs138410949 |
SNPshot | rs138410949 |
SNPdbe | rs138410949 |
MSV3d | rs138410949 |
GWAS Ctlg | rs138410949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138410949(C;C) |
Alt | rs138410949(C;C) |
Reference | Rs138410949(T;T) |
Significance | Pathogenic |
Disease | not specified Acrocallosal syndrome |
Variation | info |
Gene | KIF7 |
CLNDBN | not specified Acrocallosal syndrome, Schinzel type |
Reversed | 0 |
HGVS | NC_000015.9:g.90174856T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000174962.2, RCV000201541.1, |