This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
G/A/C/T | Ancestral: G | Ambiguity code: N | MAF: < 0.01 (T)
Location

Chromosome 1:201364336 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013440 ; ESP TMP_ESP_1_201333464_201333464 (G/-) ; ClinVar rs730881115 (G/-)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 75 HGVS names - click the plus to show

About this variant

This variant overlaps 75 transcripts, has 2504 sample genotypes and is associated with 7 phenotypes.

Variant displays