Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 12:110919160 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961004 ; PhenCode FHC0201 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 3 citations.

Variant displays