Original source

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

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

Chromosome 7:117531068 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920145, CM962456

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2544 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays