rs387907044
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907044(C;T) |
Make rs387907044(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89649810 |
Gene | KIF7 |
is a | snp |
is | mentioned by |
dbSNP | rs387907044 |
dbSNP (classic) | rs387907044 |
ClinGen | rs387907044 |
ebi | rs387907044 |
HLI | rs387907044 |
Exac | rs387907044 |
Gnomad | rs387907044 |
Varsome | rs387907044 |
LitVar | rs387907044 |
Map | rs387907044 |
PheGenI | rs387907044 |
Biobank | rs387907044 |
1000 genomes | rs387907044 |
hgdp | rs387907044 |
ensembl | rs387907044 |
geneview | rs387907044 |
scholar | rs387907044 |
rs387907044 | |
pharmgkb | rs387907044 |
gwascentral | rs387907044 |
openSNP | rs387907044 |
23andMe | rs387907044 |
SNPshot | rs387907044 |
SNPdbe | rs387907044 |
MSV3d | rs387907044 |
GWAS Ctlg | rs387907044 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907044(G;G) rs387907044(T;T) |
Alt | rs387907044(G;G) rs387907044(T;T) |
Reference | Rs387907044(C;C) |
Significance | Pathogenic |
Disease | Acrocallosal syndrome |
Variation | info |
Gene | KIF7 |
CLNDBN | Acrocallosal syndrome, Schinzel type |
Reversed | 1 |
HGVS | NC_000015.9:g.90193041G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023882.4, |