Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 1:53202427 (forward strand) | View in location tab

Co-located

with COSMIC COSM1503164 (C/T) ; HGMD-PUBLIC CM930171 ; ESP rs17355168 (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 4 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays