Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 13:27920364 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM992901

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9483, IPF1_226G_A_072211

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 6 citations.

Variant displays