Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518083
rs1057518083
DYNC1H1
CUI: C0024003
Disease: Lordosis
Lordosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1202430946
rs1202430946
IGHMBP2
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121908188
rs121908188
SELENON
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1400419650
rs1400419650
TRIP11
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
CUI: C0024003
Disease: Lordosis
Lordosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1561873941
rs1561873941
CUL7
CUI: C0024003
Disease: Lordosis
Lordosis 		C 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
CUI: C0024003
Disease: Lordosis
Lordosis 		T 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
CUI: C0024003
Disease: Lordosis
Lordosis 		CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs199564797
rs199564797
SELENON
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs59962885
rs59962885
DES
CUI: C0024003
Disease: Lordosis
Lordosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs745886248
rs745886248
SELENON
CUI: C0024003
Disease: Lordosis
Lordosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs760929207
rs760929207
OBSL1
CUI: C0024003
Disease: Lordosis
Lordosis 		G 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019