Original source

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

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

Chromosome 17:48245014 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951152 ; PhenCode SGCA:c.229C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 19 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays