Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature, has 2662 sample genotypes and is associated with 2 phenotypes.

Variant displays