rs587777731
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCGACGGCA;CCGACGGCA) | 0 | common in clinvar |
(CGGCACCGA;CGGCACCGA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587777731(-;-) |
Make rs587777731(-;CCGACGGCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 9890757 |
Gene | JAGN1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777731 |
dbSNP (classic) | rs587777731 |
ClinGen | rs587777731 |
ebi | rs587777731 |
HLI | rs587777731 |
Exac | rs587777731 |
Gnomad | rs587777731 |
Varsome | rs587777731 |
LitVar | rs587777731 |
Map | rs587777731 |
PheGenI | rs587777731 |
Biobank | rs587777731 |
1000 genomes | rs587777731 |
hgdp | rs587777731 |
ensembl | rs587777731 |
geneview | rs587777731 |
scholar | rs587777731 |
rs587777731 | |
pharmgkb | rs587777731 |
gwascentral | rs587777731 |
openSNP | rs587777731 |
23andMe | rs587777731 |
SNPshot | rs587777731 |
SNPdbe | rs587777731 |
MSV3d | rs587777731 |
GWAS Ctlg | rs587777731 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777731(-;-) Rs587777731(CGGCACCGA;CGGCACCGA) |
Alt | rs587777731(-;-) Rs587777731(CGGCACCGA;CGGCACCGA) |
Reference | Rs587777731(CCGACGGCA;CCGACGGCA) |
Significance | Pathogenic |
Disease | Severe congenital neutropenia 6 Severe congenital neutropenia |
Variation | info |
Gene | JAGN1 |
CLNDBN | Severe congenital neutropenia 6, autosomal recessive Severe congenital neutropenia |
Reversed | 0 |
HGVS | NC_000003.11:g.9932441_9932449delCCGACGGCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144166.3, RCV000170607.1, |