Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)
Location

Chromosome X:48686113 (forward strand) | View in location tab

Co-located

with COSMIC COSM4109780 (C/T) ; HGMD-PUBLIC CM102376

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB WAS_538C_A_071411

This variation has 11 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 8 transcripts, has 1092 individual genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays