Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.26 (T)

Chromosome 2:17933665 (forward strand) | View in location tab


with HGMD-PUBLIC CR052973

Most severe consequence
Intron variant
Evidence status


Archive dbSNP rs386512110

HGVS names

This variant has 2 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanHap650Y

About this variant

This variant overlaps 4 transcripts, has 3690 sample genotypes and is mentioned in 1 citation.

Variant displays