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: rs780594709
rs780594709
IGHMBP2
0.882 0.120 11 68933854 missense variant C/T snv 6.3E-05 2.8E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.800 1.000 7 2009 2016
dbSNP: rs137852667
rs137852667
IGHMBP2
0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.800 1.000 5 2001 2015
dbSNP: rs137852665
rs137852665
IGHMBP2
0.925 0.120 11 68934466 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.800 1.000 4 2001 2015
dbSNP: rs201060167
rs201060167
IGHMBP2
0.925 0.120 11 68929204 missense variant T/C snv 5.6E-05 7.7E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.800 1.000 4 2001 2012
dbSNP: rs759641927
rs759641927
IGHMBP2
0.925 0.120 11 68929278 missense variant T/C snv 2.4E-05 2.8E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.800 1.000 2 2001 2014
dbSNP: rs137852666
rs137852666
IGHMBP2
0.925 0.120 11 68911530 missense variant A/G snv
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.800 1.000 0 2001 2009
dbSNP: rs137852670
rs137852670
IGHMBP2
1.000 0.120 11 68929229 missense variant C/G;T snv 8.0E-06
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.800 1.000 0 2001 2009
dbSNP: rs724159959
rs724159959
IGHMBP2
1.000 11 68929240 missense variant T/A;G snv
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.800 1.000 0 2014 2014
dbSNP: rs724159960
rs724159960
IGHMBP2
1.000 11 68934508 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.800 1.000 0 2014 2014
dbSNP: rs145226920
rs145226920
IGHMBP2
0.925 0.120 11 68933864 stop gained C/A;T snv 1.6E-04; 3.0E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.700 1.000 6 1975 2015
dbSNP: rs145226920
rs145226920
IGHMBP2
0.925 0.120 11 68933864 stop gained C/A;T snv 1.6E-04; 3.0E-05
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 6 1975 2015
dbSNP: rs137852667
rs137852667
IGHMBP2
0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 5 2001 2015
dbSNP: rs780594709
rs780594709
IGHMBP2
0.882 0.120 11 68933854 missense variant C/T snv 6.3E-05 2.8E-05
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 5 2009 2016
dbSNP: rs137852665
rs137852665
IGHMBP2
0.925 0.120 11 68934466 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 4 2001 2015
dbSNP: rs201060167
rs201060167
IGHMBP2
0.925 0.120 11 68929204 missense variant T/C snv 5.6E-05 7.7E-05
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 4 2003 2012
dbSNP: rs724159994
rs724159994
IGHMBP2
0.882 0.120 11 68939658 frameshift variant AG/- delins
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 4 2004 2015
dbSNP: rs724159994
rs724159994
IGHMBP2
0.882 0.120 11 68939658 frameshift variant AG/- delins
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.700 1.000 4 2004 2015
dbSNP: rs797044802
rs797044802
IGHMBP2
0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 4 2003 2016
dbSNP: rs797044802
rs797044802
IGHMBP2
0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.700 1.000 4 2003 2016
dbSNP: rs1057518588
rs1057518588
IGHMBP2
0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.700 1.000 3 2003 2015
dbSNP: rs1057518588
rs1057518588
IGHMBP2
0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 3 2003 2015
dbSNP: rs1324667543
rs1324667543
IGHMBP2
0.925 0.120 11 68908327 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.700 1.000 3 2003 2017
dbSNP: rs1324667543
rs1324667543
IGHMBP2
0.925 0.120 11 68908327 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 3 2003 2017
dbSNP: rs1566424655
rs1566424655
IGHMBP2
0.925 0.120 11 68908143 splice acceptor variant A/G snv
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		0.700 1.000 3 2003 2015
dbSNP: rs1566424655
rs1566424655
IGHMBP2
0.925 0.120 11 68908143 splice acceptor variant A/G snv
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 		0.700 1.000 3 2003 2015