Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S|MAF: 0.19 (G)
Location

Chromosome 1:55067069 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CR065654

Most severe consequence
 
3 prime UTR variant
Evidence status

Synonyms
HGVS names

This variant has 2 HGVS names - Hide

1:g.55067069G>C
ENST00000294383.6:c.*1976C>G

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 5 transcripts, has 4310 sample genotypes and is mentioned in 4 citations.

Variant displays