Original source

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

Alleles
C/A | Ancestral: A | Ambiguity code: M | MAF: 0.48 (C)
Location

Chromosome 5:1286401 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs386572964, rs59399762

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

5:g.1286401C>A
ENST00000310581.8:c.1574-3777G>T
ENST00000508104.2:c.1574-3777G>T
ENST00000334602.9:c.1574-3777G>T
ENST00000460137.5:c.1574-3777G>T
LRG_343:g.13647G>T
LRG_343t1:c.1574-3777G>T

This variation has assays on 13 chips - click the plus to show

About this variant

This variant overlaps 6 transcripts, has 2694 individual genotypes, is associated with 15 phenotypes and is mentioned in 111 citations.

Variation displays