Original source

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

C/G | Ancestral: C | Ambiguity code: S | MAF: < 0.01 (G)

Chromosome 1:55046549 (forward strand) | View in location tab


with HGMD-PUBLIC CM054800

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Cardio-Metabo_Chip, HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2505 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays