Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.30 (T)
Location

Chromosome 5:150848436 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM073146

Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

5:g.150848436C>T
ENST00000522154.1:c.313C>T
ENST00000522154.1:c.313C>T(p.=)

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5, Illumina_ImmunoChip, Illumina_HumanOmni5

About this variant

This variant overlaps 3 transcripts, has 2842 sample genotypes, is associated with 2 phenotypes and is mentioned in 32 citations.

Variant displays