Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 1:148808592 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NC_000001.9:g.143787132G>A

This variant has 18 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 1 phenotype.

Variant displays