Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W|MAF: < 0.01 (T)
Location

Chromosome 6:57194817 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM071964

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13561

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays