rs386834015
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTGGG;CTGGG) | 0 | common in clinvar |
Make rs386834015(-;-) |
Make rs386834015(-;CTGGG) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 46192367 |
Gene | POMGNT1, TSPAN1 |
is a | snp |
is | mentioned by |
dbSNP | rs386834015 |
dbSNP (classic) | rs386834015 |
ClinGen | rs386834015 |
ebi | rs386834015 |
HLI | rs386834015 |
Exac | rs386834015 |
Gnomad | rs386834015 |
Varsome | rs386834015 |
LitVar | rs386834015 |
Map | rs386834015 |
PheGenI | rs386834015 |
Biobank | rs386834015 |
1000 genomes | rs386834015 |
hgdp | rs386834015 |
ensembl | rs386834015 |
geneview | rs386834015 |
scholar | rs386834015 |
rs386834015 | |
pharmgkb | rs386834015 |
gwascentral | rs386834015 |
openSNP | rs386834015 |
23andMe | rs386834015 |
SNPshot | rs386834015 |
SNPdbe | rs386834015 |
MSV3d | rs386834015 |
GWAS Ctlg | rs386834015 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834015(-;-) |
Alt | rs386834015(-;-) |
Reference | Rs386834015(CTGGG;CTGGG) |
Significance | Other |
Disease | Muscle eye brain disease |
Variation | info |
Gene | POMGNT1 |
CLNDBN | Muscle eye brain disease |
Reversed | 1 |
HGVS | NC_000001.10:g.46658039_46658043delCCCAG |
CLNSRC | ClinVar |
CLNACC | RCV000049994.1, |
[PMID 17906881] Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.