rs202229910
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202229910(C;C) |
Make rs202229910(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 89631689 |
Gene | KIF7 |
is a | snp |
is | mentioned by |
dbSNP | rs202229910 |
dbSNP (classic) | rs202229910 |
ClinGen | rs202229910 |
ebi | rs202229910 |
HLI | rs202229910 |
Exac | rs202229910 |
Gnomad | rs202229910 |
Varsome | rs202229910 |
LitVar | rs202229910 |
Map | rs202229910 |
PheGenI | rs202229910 |
Biobank | rs202229910 |
1000 genomes | rs202229910 |
hgdp | rs202229910 |
ensembl | rs202229910 |
geneview | rs202229910 |
scholar | rs202229910 |
rs202229910 | |
pharmgkb | rs202229910 |
gwascentral | rs202229910 |
openSNP | rs202229910 |
23andMe | rs202229910 |
SNPshot | rs202229910 |
SNPdbe | rs202229910 |
MSV3d | rs202229910 |
GWAS Ctlg | rs202229910 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202229910(A;A) rs202229910(C;C) |
Alt | rs202229910(A;A) rs202229910(C;C) |
Reference | Rs202229910(G;G) |
Significance | Pathogenic |
Disease | Acrocallosal syndrome not specified |
Variation | info |
Gene | KIF7 |
CLNDBN | Acrocallosal syndrome, Schinzel type not specified |
Reversed | 0 |
HGVS | NC_000015.9:g.90174920G>A; NC_000015.9:g.90174920G>C |
CLNSRC | |
CLNACC | RCV000201660.1, RCV000370098.1, |