Original source

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

Alleles
A/G|Ancestral: G|Ambiguity code: R|MAF: 0.26 (G)
Location

Chromosome 1:97883329 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970421

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 11 HGVS names - Hide

1:g.97883329A>G
ENST00000306031.5:c.85T>C
ENSP00000307107.5:p.Cys29Arg
ENST00000370192.7:c.85T>C
ENSP00000359211.3:p.Cys29Arg
ENST00000460019.1:n.160T>C
LRG_722:g.42731T>C
LRG_722t1:c.85T>C
LRG_722p1:p.Cys29Arg
LRG_722t2:c.85T>C
LRG_722p2:p.Cys29Arg

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 5 transcripts, has 4036 sample genotypes, is associated with 4 phenotypes and is mentioned in 8 citations.

Variant displays