Original source

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

Alleles
A/C|Ancestral: C|Ambiguity code: M|MAF: 0.50 (A)
Location

Chromosome 1:50116500 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

Synonyms
HGVS names

This variant has 10 HGVS names - Hide

1:g.50116500A>C
ENST00000463650.1:n.261+10550A>C
ENST00000357083.8:c.117+10107A>C
ENST00000371819.1:c.24+6536A>C
ENST00000371824.5:c.9+7302A>C
ENST00000448907.6:c.19-28457A>C
ENST00000371821.5:c.24+6536A>C
ENST00000371827.5:c.9+12500A>C
ENST00000494555.1:n.149+6536A>C
ENST00000371823.8:c.9+7302A>C

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 10 transcripts, has 4087 sample genotypes and is mentioned in 4 citations.

Variant displays