Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852650
rs137852650
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		A 0.810 CausalMutation CLINVAR

dbSNP: rs137852655
rs137852655
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		T 0.810 CausalMutation CLINVAR

dbSNP: rs137852651
rs137852651
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		T 0.800 CausalMutation CLINVAR

dbSNP: rs137852653
rs137852653
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		G 0.800 CausalMutation CLINVAR

dbSNP: rs137852656
rs137852656
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		G 0.800 CausalMutation CLINVAR

dbSNP: rs312262901
rs312262901
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		C 0.710 CausalMutation CLINVAR

dbSNP: rs1555791556
rs1555791556
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922900
rs193922900
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs193922900
rs193922900
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		TGTC 0.700 CausalMutation CLINVAR

dbSNP: rs28936669
rs28936669
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs312262899
rs312262899
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs312262900
rs312262900
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs312262900
rs312262900
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs312262900
rs312262900
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs312262904
rs312262904
COMP
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		T 0.700 CausalMutation CLINVAR