rs758595075
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758595075(A;A) |
Make rs758595075(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 225921590 |
Gene | MIR6741, PYCR2 |
is a | snp |
is | mentioned by |
dbSNP | rs758595075 |
dbSNP (classic) | rs758595075 |
ClinGen | rs758595075 |
ebi | rs758595075 |
HLI | rs758595075 |
Exac | rs758595075 |
Gnomad | rs758595075 |
Varsome | rs758595075 |
LitVar | rs758595075 |
Map | rs758595075 |
PheGenI | rs758595075 |
Biobank | rs758595075 |
1000 genomes | rs758595075 |
hgdp | rs758595075 |
ensembl | rs758595075 |
geneview | rs758595075 |
scholar | rs758595075 |
rs758595075 | |
pharmgkb | rs758595075 |
gwascentral | rs758595075 |
openSNP | rs758595075 |
23andMe | rs758595075 |
SNPshot | rs758595075 |
SNPdbe | rs758595075 |
MSV3d | rs758595075 |
GWAS Ctlg | rs758595075 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758595075(A;A) rs758595075(T;T) |
Alt | rs758595075(A;A) rs758595075(T;T) |
Reference | Rs758595075(G;G) |
Significance | Pathogenic |
Disease | Leukodystrophy |
Variation | info |
Gene | PYCR2 MIR6741 |
CLNDBN | Leukodystrophy, hypomyelinating, 10 |
Reversed | 0 |
HGVS | NC_000001.10:g.226109290G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000240857.1, |