Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K | MAF: 0.20 (T)
Location

Chromosome 1:197356778 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

This variation has 7 HGVS names - click the plus to show

1:g.197356778T>G
ENST00000367399.5:c.653-53T>G
ENST00000484075.4:c.989-53T>G
ENST00000535699.4:c.782-53T>G
ENST00000538660.4:c.989-53T>G
ENST00000475659.1:n.1126-53T>G
ENST00000367400.6:c.989-53T>G

This variation has assays on 11 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 2369 individual genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variation displays