Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs1064795559
rs1064795559
MORC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555038111
rs1555038111
KMT2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555954284
rs1555954284
DDX3X
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1563452941
rs1563452941
SLC20A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
C 0.700 CausalMutation CLINVAR

dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934907
rs28934907
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587784347
rs587784347
PLA2G6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR

dbSNP: rs11931074
rs11931074
SNCA ; LOC105377329
0.010 GeneticVariation BEFREE Age, cpRBD, chronic constipation and SNCA rs11931074 may correlate with hyposmia in Chinese PD patients. 25921825

2015