rs387906642
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906642(C;T) |
Make rs387906642(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 92649894 |
Gene | KIF11 |
is a | snp |
is | mentioned by |
dbSNP | rs387906642 |
dbSNP (classic) | rs387906642 |
ClinGen | rs387906642 |
ebi | rs387906642 |
HLI | rs387906642 |
Exac | rs387906642 |
Gnomad | rs387906642 |
Varsome | rs387906642 |
LitVar | rs387906642 |
Map | rs387906642 |
PheGenI | rs387906642 |
Biobank | rs387906642 |
1000 genomes | rs387906642 |
hgdp | rs387906642 |
ensembl | rs387906642 |
geneview | rs387906642 |
scholar | rs387906642 |
rs387906642 | |
pharmgkb | rs387906642 |
gwascentral | rs387906642 |
openSNP | rs387906642 |
23andMe | rs387906642 |
SNPshot | rs387906642 |
SNPdbe | rs387906642 |
MSV3d | rs387906642 |
GWAS Ctlg | rs387906642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906642(T;T) |
Alt | rs387906642(T;T) |
Reference | Rs387906642(C;C) |
Significance | Pathogenic |
Disease | Microcephaly with or without chorioretinopathy |
Variation | info |
Gene | KIF11 |
CLNDBN | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
Reversed | 0 |
HGVS | NC_000010.10:g.94409651C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022636.26, |