This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 7:44149794 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM004359

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB GCK_645C_G_112910

This variant has 28 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 27 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variant displays