Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:201359245 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM951222

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5866

HGVS names

This variant has 26 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 19 transcripts and is associated with 7 phenotypes.

Variant displays