Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs913477149
rs913477149
RFT1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886043343
rs886043343
GAA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040958
rs886040958
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886039814
rs886039814
WDR19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886039809
rs886039809
KIAA0586
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886039807
rs886039807
TMEM231
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886039799
rs886039799
BBS9
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs876657380
rs876657380
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs875989803
rs875989803
DDX3X
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs875989800
rs875989800
SMARCB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312826
rs869312826
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312825
rs869312825
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312824
rs869312824
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312823
rs869312823
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312822
rs869312822
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312821
rs869312821
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312685
rs869312685
ITPR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs864309525
rs864309525
LMNA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR