rs2070074
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 1.2 | harmless ancestral galactosemia variant carrier |
(G;G) | 1.5 | harmless ancestral form |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34649445 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs2070074 |
dbSNP (classic) | rs2070074 |
ClinGen | rs2070074 |
ebi | rs2070074 |
HLI | rs2070074 |
Exac | rs2070074 |
Gnomad | rs2070074 |
Varsome | rs2070074 |
LitVar | rs2070074 |
Map | rs2070074 |
PheGenI | rs2070074 |
Biobank | rs2070074 |
1000 genomes | rs2070074 |
hgdp | rs2070074 |
ensembl | rs2070074 |
geneview | rs2070074 |
scholar | rs2070074 |
rs2070074 | |
pharmgkb | rs2070074 |
gwascentral | rs2070074 |
openSNP | rs2070074 |
23andMe | rs2070074 |
SNPshot | rs2070074 |
SNPdbe | rs2070074 |
MSV3d | rs2070074 |
GWAS Ctlg | rs2070074 |
Merged from | Rs17845454 |
GMAF | 0.05464 |
Max Magnitude | 1.5 |
aka c.940A>G, p.Asn314Asp, N314D, and N205D
A 2017 publication states that the rs2070074(G) variant was originally described as pathogenic (when inherited recessively) for galactosemia, but then it was later reclassified as benign when it was discovered to be in linkage disequilibrium with the actual pathogenic variant (rs111033640; c.-119_-116del).[PMID 28771245]
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs2070074(G;G) |
Alt | Rs2070074(G;G) |
Reference | Rs2070074(A;A) |
Significance | Other |
Disease | GALT POLYMORPHISM (DUARTE GALT POLYMORPHISM (LOS ANGELES Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided not specified Galactosemia |
Variation | info |
Gene | GALT |
CLNDBN | GALT POLYMORPHISM (DUARTE, D2) GALT POLYMORPHISM (LOS ANGELES, D1) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided not specified Galactosemia |
Reversed | 0 |
HGVS | NC_000009.11:g.34649442A>G |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003797.4, RCV000003804.2, RCV000022233.6, RCV000078243.8, RCV000128642.2, RCV000243200.1, RCV000309989.1, |
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 2011574] Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
[PMID 8198125] A common mutation associated with the Duarte galactosemia allele.
[PMID 10424825] Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.
[PMID 19224951] Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
- Is a snp
- In dbSNP
- SNPs on chromosome 9
- Has genotype
- Has population
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d