Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.22 (T)
Location

Chromosome 1:156137743 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM003892 ; PhenCode HIFD_LMNA:c.1698C>T (C/T)

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 24 transcripts, has 3728 sample genotypes, is associated with 2 phenotypes and is mentioned in 10 citations.

Variant displays