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rs7297245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs7297245(C;C)
Make rs7297245(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position95980836
GeneHAL
is asnp
is mentioned by
dbSNPrs7297245
ebirs7297245
HLIrs7297245
Exacrs7297245
Varsomers7297245
Maprs7297245
PheGenIrs7297245
hapmaprs7297245
1000 genomesrs7297245
hgdprs7297245
ensemblrs7297245
gopubmedrs7297245
geneviewrs7297245
scholarrs7297245
googlers7297245
pharmgkbrs7297245
gwascentralrs7297245
openSNPrs7297245
23andMers7297245
23andMe allrs7297245
SNP Nexus

SNPshotrs7297245
SNPdbers7297245
MSV3drs7297245
GWAS Ctlgrs7297245
GMAF0.1093
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene HAL
allele T
frequency
sift TOLERATED
HuRef 1103649514553
Disease Association Defects in HAL are the cause of histidinemia (MIM:235800). It is an autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.



[PMID 18641401OA-icon.png] A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions.


[PMID 18853455OA-icon.png] Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.


GET Evidence
HAL-V439I
aa_change Val439Ile
aa_change_short V439I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.844674
summary