Source: ALL

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: rs751889864
rs751889864
MUSK ; LOC107987115
0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.800 0
dbSNP: rs606231128
rs606231128
DOK7
0.882 0.120 4 3493106 frameshift variant -/TGCC delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 11 1990 2014
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 9 2002 2014
dbSNP: rs606231131
rs606231131
DOK7
0.925 0.120 4 3493316 frameshift variant -/CTGG delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 7 2006 2012
dbSNP: rs1560224831
rs1560224831
DOK7
0.925 0.120 4 3489765 frameshift variant -/TCTC delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 5 2006 2014
dbSNP: rs786200905
rs786200905
RAPSN
0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 5 2003 2012
dbSNP: rs606231129
rs606231129
DOK7
0.925 0.120 4 3493243 frameshift variant C/-;CC delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 3 2006 2012
dbSNP: rs761899995
rs761899995
DOK7
0.925 0.120 4 3493119 frameshift variant -/G delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 3 2006 2012
dbSNP: rs121909254
rs121909254
RAPSN
0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 2 2007 2009
dbSNP: rs606231133
rs606231133
DOK7
0.925 0.120 4 3493359 frameshift variant C/-;CC delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 2 2006 2008
dbSNP: rs768892432
rs768892432
DOK7 ; LOC105374355
0.925 0.120 4 3476524 missense variant G/A snv 8.0E-06
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 1 2010 2010
dbSNP: rs770987150
rs770987150
DOK7 ; LOC105374355
0.925 0.120 4 3476447 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 1 2010 2010
dbSNP: rs1479498379
rs1479498379
RAPSN
0.925 0.080 11 47447973 stop gained G/A snv 4.0E-06
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 0
dbSNP: rs1554757237
rs1554757237
MUSK
1.000 0.080 9 110800735 stop gained G/A snv
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 0
dbSNP: rs1555142603
rs1555142603
RAPSN
0.925 0.080 11 47441670 stop gained G/A snv
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 0
dbSNP: rs551423795
rs551423795
MUSK
0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 0
dbSNP: rs794727884
rs794727884
DOK7
0.925 0.120 4 3492938 frameshift variant CCC/-;CC;CCCC delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 0
dbSNP: rs863223335
rs863223335
MUSK
1.000 0.080 9 110668943 frameshift variant -/A delins
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 0
dbSNP: rs1179002973
rs1179002973
PDHA1
1.000 0.080 X 19354536 missense variant A/G snv
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.010 1.000 1 2017 2017
dbSNP: rs121909255
rs121909255
RAPSN
0.925 0.080 11 47447859 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.010 1.000 1 2017 2017
dbSNP: rs1259002559
rs1259002559
SLC5A7
0.925 0.120 2 108006095 missense variant C/T snv 4.0E-06
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.010 1.000 1 2019 2019