rs587780436
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587780436(-;TTCCACTCTCCACC) |
Make rs587780436(TTCCACTCTCCACC;TTCCACTCTCCACC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 103565279 |
Gene | RELN |
is a | snp |
is | mentioned by |
dbSNP | rs587780436 |
dbSNP (classic) | rs587780436 |
ClinGen | rs587780436 |
ebi | rs587780436 |
HLI | rs587780436 |
Exac | rs587780436 |
Gnomad | rs587780436 |
Varsome | rs587780436 |
LitVar | rs587780436 |
Map | rs587780436 |
PheGenI | rs587780436 |
Biobank | rs587780436 |
1000 genomes | rs587780436 |
hgdp | rs587780436 |
ensembl | rs587780436 |
geneview | rs587780436 |
scholar | rs587780436 |
rs587780436 | |
pharmgkb | rs587780436 |
gwascentral | rs587780436 |
openSNP | rs587780436 |
23andMe | rs587780436 |
SNPshot | rs587780436 |
SNPdbe | rs587780436 |
MSV3d | rs587780436 |
GWAS Ctlg | rs587780436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780436(TTCCACTCTCCACC;TTCCACTCTCCACC) |
Alt | rs587780436(TTCCACTCTCCACC;TTCCACTCTCCACC) |
Reference | Rs587780436(-;-) |
Significance | Pathogenic |
Disease | Lissencephaly 2 (Norman-Roberts type) |
Variation | info |
Gene | RELN |
CLNDBN | Lissencephaly 2 (Norman-Roberts type) |
Reversed | 1 |
HGVS | NC_000007.13:g.103205727_103205740dupGGTGGAGAGTGGAA |
CLNSRC | |
CLNACC | RCV000118139.1, |