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 5:1278749 (forward strand)|View in location tab

Co-located variants
Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

LSDB NM_198253.2:c.2178G>A

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays