This variant has been flagged

Variation has more than 3 different alleles

Original source

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

G/A/C/T | Ancestral: G | Ambiguity code: N | MAF: 0.17 (C)

Chromosome 19:1222013 (forward strand) | View in location tab

Most severe consequence
Splice region variant
Evidence status

Clinical significance


ClinVar SCV000110774, SCV000166362

HGVS names

This variant has 21 HGVS names - Show

About this variant

This variant overlaps 30 transcripts, 1 regulatory feature, has 2578 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays