rs727503992
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGGGCATTGTTTTTCAACATCCA;AGGGCATTGTTTTTCAACATCCA) | 0 | common in clinvar |
(CCAAGGGCATTGTTTTTCAACAT;CCAAGGGCATTGTTTTTCAACAT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs727503992(-;-) |
Make rs727503992(-;AGGGCATTGTTTTTCAACATCCA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 129315543 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs727503992 |
dbSNP (classic) | rs727503992 |
ClinGen | rs727503992 |
ebi | rs727503992 |
HLI | rs727503992 |
Exac | rs727503992 |
Gnomad | rs727503992 |
Varsome | rs727503992 |
LitVar | rs727503992 |
Map | rs727503992 |
PheGenI | rs727503992 |
Biobank | rs727503992 |
1000 genomes | rs727503992 |
hgdp | rs727503992 |
ensembl | rs727503992 |
geneview | rs727503992 |
scholar | rs727503992 |
rs727503992 | |
pharmgkb | rs727503992 |
gwascentral | rs727503992 |
openSNP | rs727503992 |
23andMe | rs727503992 |
SNPshot | rs727503992 |
SNPdbe | rs727503992 |
MSV3d | rs727503992 |
GWAS Ctlg | rs727503992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503992(-;-) Rs727503992(CCAAGGGCATTGTTTTTCAACAT;CCAAGGGCATTGTTTTTCAACAT) |
Alt | rs727503992(-;-) Rs727503992(CCAAGGGCATTGTTTTTCAACAT;CCAAGGGCATTGTTTTTCAACAT) |
Reference | Rs727503992(AGGGCATTGTTTTTCAACATCCA;AGGGCATTGTTTTTCAACATCCA) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | LAMA2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.129636688_129636710delAGGGCATTGTTTTTCAACATCCA |
CLNSRC | |
CLNACC | RCV000153435.2, |