rs587783739
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783739(C;C) |
Make rs587783739(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 6642993 |
Gene | MCPH1, MCPH1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783739 |
dbSNP (classic) | rs587783739 |
ClinGen | rs587783739 |
ebi | rs587783739 |
HLI | rs587783739 |
Exac | rs587783739 |
Gnomad | rs587783739 |
Varsome | rs587783739 |
LitVar | rs587783739 |
Map | rs587783739 |
PheGenI | rs587783739 |
Biobank | rs587783739 |
1000 genomes | rs587783739 |
hgdp | rs587783739 |
ensembl | rs587783739 |
geneview | rs587783739 |
scholar | rs587783739 |
rs587783739 | |
pharmgkb | rs587783739 |
gwascentral | rs587783739 |
openSNP | rs587783739 |
23andMe | rs587783739 |
SNPshot | rs587783739 |
SNPdbe | rs587783739 |
MSV3d | rs587783739 |
GWAS Ctlg | rs587783739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783739(A;A) rs587783739(C;C) |
Alt | rs587783739(A;A) rs587783739(C;C) |
Reference | Rs587783739(G;G) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 1 not provided |
Variation | info |
Gene | MCPH1-AS1 MCPH1 |
CLNDBN | Primary autosomal recessive microcephaly 1 not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.6500514G>C |
CLNSRC | |
CLNACC | RCV000146319.1, RCV000171411.1, |