This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
G/A/C/T|Ancestral: C|Ambiguity code: N|MAF: 0.41 (C)
Location

Chromosome 1:209792242 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

Synonyms
HGVS names

This variant has 15 HGVS names - Hide

Variant allele A
1:g.209792242G>A
ENST00000464698.1:n.446+27C>T
ENST00000542854.5:c.382+27C>T
ENST00000456314.1:c.667+27C>T
ENST00000367021.7:c.667+27C>T

Variant allele T
1:g.209792242G>T
ENST00000464698.1:n.446+27C>A
ENST00000542854.5:c.382+27C>A
ENST00000456314.1:c.667+27C>A
ENST00000367021.7:c.667+27C>A

Variant allele C
1:g.209792242G>C
ENST00000464698.1:n.446+27C>G
ENST00000542854.5:c.382+27C>G
ENST00000456314.1:c.667+27C>G
ENST00000367021.7:c.667+27C>G

Genotyping chips

This variant has assays on: Affy GenomeWideSNP_6.0, Affy GeneChip 500K, Illumina_HumanOmni5

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 4028 sample genotypes and is mentioned in 10 citations.

Variant displays