Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C4022858
Disease: Elevated aldolase level
Elevated aldolase level 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0042571
Disease: Vertigo
Vertigo 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0030252
Disease: Palpitations
Palpitations 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C4024883
Disease: Hyperextensible skin of face
Hyperextensible skin of face 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1850438
Disease: Postural hypotension with compensatory tachycardia
Postural hypotension with compensatory tachycardia 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0030554
Disease: Paresthesia
Paresthesia 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0030193
Disease: Pain
Pain 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1845155
Disease: Exercise-induced myoglobinuria
Exercise-induced myoglobinuria 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		0.700 0