Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/C | Ancestral: C | Ambiguity code: S | MAF: 0.41 (C)
Location

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

Most severe consequence
 
Intron variant
Evidence status

Synonyms

This variant has 5 HGVS names - click the plus to show

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 4 transcripts, 1 regulatory feature, has 4028 sample genotypes and is mentioned in 9 citations.

Variant displays