Original source

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

Alleles
T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.43 (T)
Location

Chromosome 1:206771300 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs3748675

This variation has 2 HGVS names - click the plus to show

1:g.206771300T>C
ENST00000423557.1:c.225+56A>G

This variation has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 3807 individual genotypes, is associated with 1 phenotype and is mentioned in 19 citations.

Variation displays