rs387906730
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906730(A;A) |
Make rs387906730(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3388 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906730 |
dbSNP (classic) | rs387906730 |
ClinGen | rs387906730 |
ebi | rs387906730 |
HLI | rs387906730 |
Exac | rs387906730 |
Gnomad | rs387906730 |
Varsome | rs387906730 |
LitVar | rs387906730 |
Map | rs387906730 |
PheGenI | rs387906730 |
Biobank | rs387906730 |
1000 genomes | rs387906730 |
hgdp | rs387906730 |
ensembl | rs387906730 |
geneview | rs387906730 |
scholar | rs387906730 |
rs387906730 | |
pharmgkb | rs387906730 |
gwascentral | rs387906730 |
openSNP | rs387906730 |
23andMe | rs387906730 |
SNPshot | rs387906730 |
SNPdbe | rs387906730 |
MSV3d | rs387906730 |
GWAS Ctlg | rs387906730 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906730(A;A) |
Alt | rs387906730(A;A) |
Reference | Rs387906730(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ND1 |
CLNDBN | Deafness, nonsyndromic sensorineural, mitochondrial |
Reversed | 0 |
HGVS | NC_012920.1:m.3388C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022892.2, |