Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 1:42830860 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM033613 ; PhenCode BGMUT_756 (C/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays