Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.03 (A)
Location

Chromosome 1:67240275 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM066884

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

1:g.67240275G>A
ENST00000347310.8:c.1142G>A
ENSP00000321345.5:p.Arg381Gln
ENST00000425614.2:c.377G>A
ENSP00000387640.2:p.Arg126Gln
ENST00000395227.2:c.-58-15562G>A
ENST00000473881.2:c.191-15562G>A

This variation has assays on 15 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2421 individual genotypes, is associated with 19 phenotypes and is mentioned in 215 citations.

Variation displays