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

Chromosome 7:44147678 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930304, CM920307

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 33 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 24 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays