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 10:74112086 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020193

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6080

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays