Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: 0.43 (A)
Location

Chromosome 18:22987010 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs58051785, rs56514252

This variation has 8 HGVS names - click the plus to show

18:g.22987010C>A
ENST00000399722.5:c.709+2020C>A
ENST00000585177.1:c.*282+2020C>A
ENST00000360790.8:c.709+2020C>A
ENST00000399725.5:c.709+2020C>A
ENST00000577445.1:c.425+2020C>A
ENST00000399721.5:c.709+2020C>A
ENST00000327155.8:c.709+2020C>A

This variation has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts and has 4033 individual genotypes.

Variation displays