rs387906358
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs387906358(-;-) |
Make rs387906358(-;TC) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 112088888 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs387906358 |
dbSNP (classic) | rs387906358 |
ClinGen | rs387906358 |
ebi | rs387906358 |
HLI | rs387906358 |
Exac | rs387906358 |
Gnomad | rs387906358 |
Varsome | rs387906358 |
LitVar | rs387906358 |
Map | rs387906358 |
PheGenI | rs387906358 |
Biobank | rs387906358 |
1000 genomes | rs387906358 |
hgdp | rs387906358 |
ensembl | rs387906358 |
geneview | rs387906358 |
scholar | rs387906358 |
rs387906358 | |
pharmgkb | rs387906358 |
gwascentral | rs387906358 |
openSNP | rs387906358 |
23andMe | rs387906358 |
SNPshot | rs387906358 |
SNPdbe | rs387906358 |
MSV3d | rs387906358 |
GWAS Ctlg | rs387906358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906358(-;-) |
Alt | rs387906358(-;-) |
Reference | Rs387906358(TC;TC) |
Significance | Pathogenic |
Disease | Paragangliomas 1 with sensorineural hearing loss not provided |
Variation | info |
Gene | SDHD |
CLNDBN | Paragangliomas 1 with sensorineural hearing loss not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.111959612_111959613delTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007313.2, RCV000481193.1, |