Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/T | Ancestral: G | Ambiguity code: K | MAF: 0.03 (T)

Chromosome 14:77320521 (forward strand) | View in location tab


with PhenCode POMT2:c.161C>A (G/T)

Most severe consequence
Evidence status

Clinical significance


Uniprot VAR_022083

This variation has 6 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni2.5, HumanCoreExome-12

About this variant

This variant overlaps 22 transcripts, has 1250 individual genotypes and is associated with 2 phenotypes.

Variation displays