SNP Detail For rs148635969
1.Mapping Information
Human SNP ID rs148635969
Human chromosome chr4
Human SNP position 71451250
Pig chromosome chr8
Pig SNP position 71944293
2.Annotation Information
PubMed ID24951543
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24951543
StudyMeta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
Disease/TraitAge-related nuclear cataracts
Initial sample2,369 Malay ancestry individuals, 2,200 Indian ancestry individuals, 2,571 Chinese ancestry individuals
Replication sampleNA
Region4q13.3
Chromosome idchr4
Chromosome position71451250
Reported geneSLC4A4
Mapped geneSLC4A4
Upstream gene id
Downstream gene id
SNP gene ids8671
Upstream gene distance
Downstream gene distance
SNP risk allelers148635969-A
SNPsrs148635969
Merged0
SNP id current148635969
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.000008
Pvalue mlog5.09691001300805
P value text(Fixed effect)
Or beta0.27
%95 Ci[0.15-0.39] unit increase
PlatformIllumina [4736131] (imputed)
CNVN
Mapped traitage-related nuclear cataract
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0011142
Study accessionGCST002498