Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.04 (A)
Location

Chromosome 1:113834946 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041826

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

This variation has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 2275 individual genotypes, is associated with 21 phenotypes and is mentioned in 343 citations.

Variation displays