Original source

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

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

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

Co-located variants

HGMD-PUBLIC CM920307, CM930304

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 16 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays