Source: CURATED ×
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: rs587779766
rs587779766
AHDC1
C 0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014
dbSNP: rs587779767
rs587779767
AHDC1
A 0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014
dbSNP: rs587779768
rs587779768
AHDC1
A 0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs1009298200
rs1009298200
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518588
rs1057518588
IGHMBP2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518951
rs1057518951
ARID1B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1251778848
rs1251778848
KMT2D
A 0.700 CausalMutation CLINVAR

dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1400419650
rs1400419650
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1421405659
rs1421405659
MYBPC1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1563221666
rs1563221666
SFTPC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs35135520
rs35135520
TIMM50
A 0.700 CausalMutation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
G 0.700 GeneticVariation CLINVAR