Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M | MAF: < 0.01 (C)
Location

Chromosome 1:7984930 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032395

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 8 transcripts, has 1092 individual genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variation displays