rs672601369
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs672601369(A;A) |
Make rs672601369(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 240783780 |
Gene | KIF1A |
is a | snp |
is | mentioned by |
dbSNP | rs672601369 |
dbSNP (classic) | rs672601369 |
ClinGen | rs672601369 |
ebi | rs672601369 |
HLI | rs672601369 |
Exac | rs672601369 |
Gnomad | rs672601369 |
Varsome | rs672601369 |
LitVar | rs672601369 |
Map | rs672601369 |
PheGenI | rs672601369 |
Biobank | rs672601369 |
1000 genomes | rs672601369 |
hgdp | rs672601369 |
ensembl | rs672601369 |
geneview | rs672601369 |
scholar | rs672601369 |
rs672601369 | |
pharmgkb | rs672601369 |
gwascentral | rs672601369 |
openSNP | rs672601369 |
23andMe | rs672601369 |
SNPshot | rs672601369 |
SNPdbe | rs672601369 |
MSV3d | rs672601369 |
GWAS Ctlg | rs672601369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601369(A;A) |
Alt | rs672601369(A;A) |
Reference | Rs672601369(G;G) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | KIF1A |
CLNDBN | Mental retardation, autosomal dominant 9 not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.241723197C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149481.3, RCV000488961.1, |