rs863224974
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224974(A;A) |
Make rs863224974(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71223751 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224974 |
dbSNP (classic) | rs863224974 |
ClinGen | rs863224974 |
ebi | rs863224974 |
HLI | rs863224974 |
Exac | rs863224974 |
Gnomad | rs863224974 |
Varsome | rs863224974 |
LitVar | rs863224974 |
Map | rs863224974 |
PheGenI | rs863224974 |
Biobank | rs863224974 |
1000 genomes | rs863224974 |
hgdp | rs863224974 |
ensembl | rs863224974 |
geneview | rs863224974 |
scholar | rs863224974 |
rs863224974 | |
pharmgkb | rs863224974 |
gwascentral | rs863224974 |
openSNP | rs863224974 |
23andMe | rs863224974 |
SNPshot | rs863224974 |
SNPdbe | rs863224974 |
MSV3d | rs863224974 |
GWAS Ctlg | rs863224974 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224974(A;A) |
Alt | rs863224974(A;A) |
Reference | Rs863224974(G;G) |
Significance | Pathogenic |
Disease | X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided |
Variation | info |
Gene | GJB1 |
CLNDBN | X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.70443601G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000201093.1, RCV000234336.1, RCV000235929.1, |