Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.34 (G)
Location

Chromosome 1:54171744 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs60317075, rs3795359

This variation has 3 HGVS names - click the plus to show

1:g.54171744G>A
ENST00000311841.7:c.*178+12417C>T
ENST00000525949.1:n.92+859C>T

Genotyping chips

This variation has assays on: Illumina_HumanOmni5, Illumina_1M-duo

Variation displays