Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (T)
Location

Chromosome 2:220290449 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000369 ; PhenCode HIFD_DES:c.1353C>G (C/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

Variation displays