Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs17618244

Hard Link
rs17618244 is a snp on gene KLB (klotho beta)

GeneKLB Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation 2183G>A Arg728Gln Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant. The major G allele results in reduced KLB protein stability when interacting with FGFR4 variants leading to a reduced ability to limit the production of bile acids.
Gene Function
The KLB gene provides instructions for making a protein called klotho beta. It is one of two proteins on the membrane of liver cells which, together with FGFR4, affect the way that a hormone called FGF19 made in the ileum (at the end of the small intestine), interacts with the activity of a liver detoxification enzyme called cytochrome P450 7A1 (CYP7A1) and thereby suppress the production of bile acid. The normal version of SNP rs17618244 in KLB might interact with one or more of three known SNPs in FGFR4 resulting in an unstable KLB protein and increased bile acid production and leading to diarrhea.
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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