Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.37 (A)
Location

Chromosome 19:41354391 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR993676

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

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

19:g.41354391A>G
ENST00000604123.4:c.142+76A>G
ENST00000539627.4:c.-30+3189A>G
ENST00000604424.1:n.350+3189A>G

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

About this variant

This variant overlaps 8 transcripts, has 3893 individual genotypes, is associated with 2 phenotypes and is mentioned in 159 citations.

Variation displays