rs199422125
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs199422125(-;A) |
Make rs199422125(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 6436153 |
Gene | MCPH1 |
is a | snp |
is | mentioned by |
dbSNP | rs199422125 |
dbSNP (classic) | rs199422125 |
ClinGen | rs199422125 |
ebi | rs199422125 |
HLI | rs199422125 |
Exac | rs199422125 |
Gnomad | rs199422125 |
Varsome | rs199422125 |
LitVar | rs199422125 |
Map | rs199422125 |
PheGenI | rs199422125 |
Biobank | rs199422125 |
1000 genomes | rs199422125 |
hgdp | rs199422125 |
ensembl | rs199422125 |
geneview | rs199422125 |
scholar | rs199422125 |
rs199422125 | |
pharmgkb | rs199422125 |
gwascentral | rs199422125 |
openSNP | rs199422125 |
23andMe | rs199422125 |
SNPshot | rs199422125 |
SNPdbe | rs199422125 |
MSV3d | rs199422125 |
GWAS Ctlg | rs199422125 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422125(A;A) |
Alt | rs199422125(A;A) |
Reference | Rs199422125(-;-) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 1 Abnormality of brain morphology |
Variation | info |
Gene | MCPH1 |
CLNDBN | Primary autosomal recessive microcephaly 1 Abnormality of brain morphology |
Reversed | 0 |
HGVS | NC_000008.10:g.6293674dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003619.2, RCV000454240.1, |