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: 0.01 (A)
Location

Chromosome 17:49359387 (forward strand) | View in location tab

Most severe consequence
Evidence status

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

17:g.49359387G>A
ENST00000508237.4:c.-383+2522C>T
ENST00000362063.5:c.-259+3026C>T
ENST00000430262.2:c.-259+2522C>T

This variation has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 6 transcripts, has 1989 individual genotypes, is associated with 1 phenotype and is mentioned in 5 citations.

Variation displays