rs398123010
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123010(A;G) |
Make rs398123010(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 72034369 |
Gene | MSC-AS1, TRPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123010 |
dbSNP (classic) | rs398123010 |
ClinGen | rs398123010 |
ebi | rs398123010 |
HLI | rs398123010 |
Exac | rs398123010 |
Gnomad | rs398123010 |
Varsome | rs398123010 |
LitVar | rs398123010 |
Map | rs398123010 |
PheGenI | rs398123010 |
Biobank | rs398123010 |
1000 genomes | rs398123010 |
hgdp | rs398123010 |
ensembl | rs398123010 |
geneview | rs398123010 |
scholar | rs398123010 |
rs398123010 | |
pharmgkb | rs398123010 |
gwascentral | rs398123010 |
openSNP | rs398123010 |
23andMe | rs398123010 |
SNPshot | rs398123010 |
SNPdbe | rs398123010 |
MSV3d | rs398123010 |
GWAS Ctlg | rs398123010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123010(G;G) |
Alt | rs398123010(G;G) |
Reference | Rs398123010(A;A) |
Significance | Pathogenic |
Disease | Familial episodic pain syndrome 1 |
Variation | info |
Gene | LOC100132891 TRPA1 MSC-AS1 |
CLNDBN | Familial episodic pain syndrome 1 |
Reversed | 1 |
HGVS | NC_000008.10:g.72946604T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032802.4, |