Original source

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

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

Chromosome 1:226888977 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951088

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 13 HGVS names - click the plus to show

About this variant

This variant overlaps 9 transcripts and is associated with 4 phenotypes.

Variation displays