Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: 0.01 (G)
Location

Chromosome X:83509034 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, has 2507 sample genotypes and is associated with 1 phenotype.

Variant displays