Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/G | Ancestral: T | Ambiguity code: K | MAF: < 0.01 (G)
Location

Chromosome 1:197328781 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010797 ; PhenCode RISN_CRB1:c.430T>G (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays