Original source

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

Alleles
G/C | Ancestral: C | Ambiguity code: S | MAF: 0.40 (C)
Location

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

Most severe consequence
Evidence status

Synonyms

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

1:g.209792242G>C
ENST00000542854.2:c.382+27C>G
ENST00000464698.1:n.446+27C>G
ENST00000456314.1:c.667+27C>G
ENST00000367021.4:c.667+27C>G

Genotyping chips

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

Variation displays