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: rs730882140
rs730882140 		0.925 0.080 2 219279847 missense variant A/G snv
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.800 0
dbSNP: rs369661561
rs369661561 		1.000 2 219281937 splice acceptor variant A/G snv 6.0E-05 1.2E-04
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 1.000 2 2012 2014
dbSNP: rs756614404
rs756614404 		1.000 2 219282062 splice donor variant G/A snv 3.6E-05 2.1E-05
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 1.000 2 2012 2016
dbSNP: rs764813110
rs764813110 		1.000 2 219284631 splice acceptor variant G/A snv 8.6E-06 2.1E-05
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 1.000 1 2015 2015
dbSNP: rs797045039
rs797045039 		1.000 2 219282052 stop gained G/T snv
CUI: C4015635
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T 		0.700 1.000 1 2016 2016
dbSNP: rs879253868
rs879253868 		1.000 2 219282018 frameshift variant C/- delins 7.0E-06
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 1.000 1 2015 2015
dbSNP: rs730882139
rs730882139 		0.925 0.080 2 219281772 splice donor variant G/A snv
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 0
dbSNP: rs730882139
rs730882139 		0.925 0.080 2 219281772 splice donor variant G/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs730882140
rs730882140 		0.925 0.080 2 219279847 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs758322672
rs758322672 		1.000 2 219283131 splice acceptor variant A/G snv 4.0E-06
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		0.700 0