rs587783735
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs587783735(-;-) |
Make rs587783735(-;AT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 6455186 |
Gene | MCPH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783735 |
dbSNP (classic) | rs587783735 |
ClinGen | rs587783735 |
ebi | rs587783735 |
HLI | rs587783735 |
Exac | rs587783735 |
Gnomad | rs587783735 |
Varsome | rs587783735 |
LitVar | rs587783735 |
Map | rs587783735 |
PheGenI | rs587783735 |
Biobank | rs587783735 |
1000 genomes | rs587783735 |
hgdp | rs587783735 |
ensembl | rs587783735 |
geneview | rs587783735 |
scholar | rs587783735 |
rs587783735 | |
pharmgkb | rs587783735 |
gwascentral | rs587783735 |
openSNP | rs587783735 |
23andMe | rs587783735 |
SNPshot | rs587783735 |
SNPdbe | rs587783735 |
MSV3d | rs587783735 |
GWAS Ctlg | rs587783735 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783735(-;-) |
Alt | rs587783735(-;-) |
Reference | Rs587783735(AT;AT) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 1 |
Variation | info |
Gene | MCPH1 |
CLNDBN | Primary autosomal recessive microcephaly 1 |
Reversed | 0 |
HGVS | NC_000008.10:g.6312707_6312708delAT |
CLNSRC | |
CLNACC | RCV000146285.1, |