Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200930
rs786200930
LRSAM1
0.710 GeneticVariation BEFREE We recently reported a frameshift (FS) mutation in the Really Interesting New Gene finger (RING) domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal-type CMT (CMT2P). 28335037

2017
dbSNP: rs786200930
rs786200930
LRSAM1
CCG 0.710 CausalMutation CLINVAR