Original source

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

G/A/T | Ancestral: G | Ambiguity code: D

Chromosome 1:201364336 (forward strand) | View in location tab


with HGMD-PUBLIC CM013440 ; ESP TMP_ESP_1_201333464_201333464 (G/-)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 46 HGVS names - click the plus to show

About this variant

This variant overlaps 50 transcripts and is associated with 4 phenotypes.

Variation displays