Original source

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

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

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


with HGMD-PUBLIC CM992901

Most severe consequence
Missense variant
Evidence status

Clinical significance


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