Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.36 (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 4 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
ENST00000604424.1:n.350+3189A>G
ENST00000539627.4:c.-30+3189A>G

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

About this variant

This variant overlaps 8 transcripts, has 2489 individual genotypes, is associated with 1 phenotype and is mentioned in 151 citations.

Variation displays