Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 5:1278749 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_198253.2:c.2178G>A

This variation has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 6 transcripts, has 1092 individual genotypes and is associated with 1 phenotype.

Variation displays