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Human (GRCh38.p12)
Most severe consequence
 
missense variant
Alleles
A/G|Ancestral: A|MAF: 0.24 (G)|Highest population MAF: 0.49
Location

Chromosome 2:108897145 (forward strand)|VCF:2  108897145  rs3827760  A  G

Co-located variant

HGMD-PUBLIC CM081233

Evidence status

Clinical significance

HGVS names

This variant has 9 HGVS names - Show

Synonyms

This variant has 8 synonyms - Show

Genotyping chips

This variant has assays on 6 chips - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 151)|View in dbSNP

About this variant

This variant overlaps 3 transcripts, has 3257 sample genotypes, is associated with 14 phenotypes and is mentioned in 18 citations.

Description from SNPedia

rs3827760, also known as 1540T/C, 370A, V370A or Val370Ala, is a SNP in the ectodysplasin A receptor EDAR gene on chromosome 2. The EDAR gene is involved in ectodermal development.... Show

Variant displays