Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 9:108899816 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CS011046 ; PhenCode IPNMDB_513 (A/G)

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

LSDB NG_008788.1:g.39513T>C_1269711014

HGVS names

This variant has 5 HGVS names - Hide

9:g.108899816A>G
ENST00000537196.1:c.1157+6T>C
ENST00000374647.9:c.2204+6T>C
LRG_251:g.39513T>C
LRG_251t1:c.2204+6T>C

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 3 transcripts and is associated with 3 phenotypes.

Variant displays