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: rs28936415
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs115079861
rs115079861
RMND1
1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 2008 2016
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1975 2013
dbSNP: rs121918166
rs121918166
OCA2
0.925 0.160 15 27985101 missense variant C/T snv 3.0E-03 3.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1993 2016
dbSNP: rs61755320
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs188675529
rs188675529
THAP11 ; CENPT
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs141970897
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 1 2020 2020
dbSNP: rs387906309
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 1986 2014
dbSNP: rs137852695
rs137852695
PPT1
0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs121908119
rs121908119
WNT10A ; LOC107984111
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 2007 2017
dbSNP: rs542489955
rs542489955
FKBP14 ; LOC105375215
0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 1966 2013
dbSNP: rs141138948
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1994 2014
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs121434407
rs121434407
GLE1 ; LOC101929270
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1985 2017
dbSNP: rs201842633
rs201842633
EARS2
1.000 16 23544671 missense variant C/A;T snv 4.3E-06; 2.6E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2012 2016
dbSNP: rs147001633
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 36 1989 2018
dbSNP: rs80358259
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1997 2012
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2000 2017
dbSNP: rs150940923
rs150940923
THOC6
1.000 0.240 16 3027170 missense variant G/C snv 1.8E-04 2.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2000 2017
dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2000 2017
dbSNP: rs121918243
rs121918243
MMACHC
0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2006 2015
dbSNP: rs766667249
rs766667249
PIGQ
1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 1998 2015
dbSNP: rs147484110
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 2002 2017
dbSNP: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 1999 2016