Original source

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

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

Chromosome 5:151822915 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012968

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000171.3:c.1108G>A

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays