Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (T)
Location

Chromosome 1:201364336 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD117175, CM013440 ; dbSNP rs730881115 (G/-)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 58 HGVS names - Show

About this variant

This variant overlaps 50 transcripts, has 2504 sample genotypes and is associated with 7 phenotypes.

Variant displays