Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.11 (A)

Chromosome 17:4899390 (forward strand) | View in location tab

Most severe consequence
Splice region variant
Evidence status

Clinical significance


ClinVar SCV000150708

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays