rs606231167
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231167(-;AGCC) |
Make rs606231167(AGCC;AGCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 7555731 |
Gene | PNPLA6 |
is a | snp |
is | mentioned by |
dbSNP | rs606231167 |
dbSNP (classic) | rs606231167 |
ClinGen | rs606231167 |
ebi | rs606231167 |
HLI | rs606231167 |
Exac | rs606231167 |
Gnomad | rs606231167 |
Varsome | rs606231167 |
LitVar | rs606231167 |
Map | rs606231167 |
PheGenI | rs606231167 |
Biobank | rs606231167 |
1000 genomes | rs606231167 |
hgdp | rs606231167 |
ensembl | rs606231167 |
geneview | rs606231167 |
scholar | rs606231167 |
rs606231167 | |
pharmgkb | rs606231167 |
gwascentral | rs606231167 |
openSNP | rs606231167 |
23andMe | rs606231167 |
SNPshot | rs606231167 |
SNPdbe | rs606231167 |
MSV3d | rs606231167 |
GWAS Ctlg | rs606231167 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231167(AGCC;AGCC) rs606231167(GCCA;GCCA) |
Alt | rs606231167(AGCC;AGCC) rs606231167(GCCA;GCCA) |
Reference | Rs606231167(-;-) |
Significance | Pathogenic |
Disease | Spastic paraplegia 39 Trichomegaly with mental retardation Laurence-Moon syndrome |
Variation | info |
Gene | PNPLA6 |
CLNDBN | Spastic paraplegia 39 Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina Laurence-Moon syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.7620614_7620617dupAGCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006986.4, RCV000162350.5, RCV000162351.5, |