Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.16 (T)
Location

Chromosome 19:5831829 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940795

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays