Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A/T | Ancestral: C | Ambiguity code: H | MAF: < 0.01 (A)
Location

Chromosome 5:136055770 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981910

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 18 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 25 transcripts, has 2504 individual genotypes and is associated with 3 phenotypes.

Variation displays