Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: 0.33 (T)
Location

Chromosome 1:54179589 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs59022236, rs56633835

This variation has 9 HGVS names - click the plus to show

1:g.54179589T>C
ENST00000311841.7:c.*178+4572A>G
ENST00000534324.4:c.541-237A>G
ENST00000493530.2:c.283-237A>G
ENST00000528287.4:c.*179-237A>G
ENST00000421415.4:c.*179-237A>G
ENST00000420054.4:c.*535-237A>G
ENST00000490863.4:n.2973-237A>G
ENST00000287899.11:c.540+4572A>G

This variation has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 9 transcripts, has 2633 individual genotypes, is associated with 1 phenotype and is mentioned in 9 citations.

Variation displays