Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518812
rs1057518812
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518883
rs1057518883
FBN1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519443
rs1057519443
MPP4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064797103
rs1064797103
OTUD6B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085308004
rs1085308004
FBN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1114167445
rs1114167445
SPTBN4
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017
dbSNP: rs111854391
rs111854391
TGFBR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs112550005
rs112550005
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908188
rs121908188
SELENON
A 0.700 GeneticVariation CLINVAR

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

2004
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: rs121918494
rs121918494
FGFR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1269636220
rs1269636220
WDR11
0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944

2015
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1306416169
rs1306416169
NSMF
0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944

2015
dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854461
rs137854461
FBN1
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854466
rs137854466
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs137854467
rs137854467
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1487309678
rs1487309678
SEMA3A
0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944

2015
dbSNP: rs1553212868
rs1553212868
POGZ
C 0.700 CausalMutation CLINVAR