FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606812
rs267606812 		1.000 X 136207828 missense variant A/G;T snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 1.000 3 2008 2009
dbSNP: rs267606813
rs267606813 		1.000 X 136207829 missense variant C/G snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 1.000 3 2008 2009
dbSNP: rs122458142
rs122458142 		1.000 X 136207827 missense variant C/T snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 0
dbSNP: rs122458143
rs122458143 		1.000 X 136207855 missense variant G/T snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 0
dbSNP: rs122459146
rs122459146 		1.000 X 136207909 missense variant G/A snv
CUI: C4225423
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 0