Gene: DSP ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727504443
rs727504443
DSP
5 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 6 1999 2014
dbSNP: rs397516943
rs397516943
DSP
4 0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 0.700 1.000 5 2013 2017
dbSNP: rs397516955
rs397516955
DSP
9 0.790 0.120 6 7562753 stop gained G/A snv 0.700 1.000 3 2006 2015
dbSNP: rs727503000
rs727503000
DSP
2 1.000 0.080 6 7579663 frameshift variant -/A delins 0.700 1.000 3 2010 2016
dbSNP: rs727503003
rs727503003
DSP
2 1.000 0.080 6 7581012 frameshift variant -/A delins 0.700 1.000 3 2010 2011
dbSNP: rs397516956
rs397516956
DSP
1 6 7562762 frameshift variant -/A delins 0.700 1.000 2 2000 2006
dbSNP: rs397516973
rs397516973
DSP
1 6 7565448 stop gained C/A;T snv 1.2E-05 0.700 1.000 1 2006 2006
dbSNP: rs727505115
rs727505115
DSP
1 6 7572069 splice donor variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs148894066
rs148894066
DSP
1 6 7579697 stop gained C/A;T snv 1.4E-04 0.700 0
dbSNP: rs1554105614
rs1554105614
DSP
2 1.000 0.080 6 7555773 stop gained C/T snv 0.700 0
dbSNP: rs1554108012
rs1554108012
DSP
4 0.882 0.120 6 7579323 stop gained C/T snv 0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
4 0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 0.700 0
dbSNP: rs1554108287
rs1554108287
DSP
3 0.925 0.080 6 7580495 frameshift variant CACTG/- del 0.700 0
dbSNP: rs1554108431
rs1554108431
DSP
4 0.882 0.120 6 7581189 stop gained C/T snv 0.700 0
dbSNP: rs1561703922
rs1561703922
DSP
1 6 7584830 frameshift variant ACAG/- delins 0.700 0
dbSNP: rs397516913
rs397516913
DSP
1 6 7567781 frameshift variant T/- delins 0.700 0
dbSNP: rs397516927
rs397516927
DSP
1 6 7577007 frameshift variant -/A delins 0.700 0
dbSNP: rs397516945
rs397516945
DSP
1 6 7559337 frameshift variant -/A ins 0.700 0
dbSNP: rs587782927
rs587782927
DSP
4 0.882 0.080 6 7574084 splice region variant AG/- delins 0.700 0
dbSNP: rs727502994
rs727502994
DSP
1 6 7581565 splice donor variant -/AG delins 0.700 0
dbSNP: rs727503001
rs727503001
DSP
2 1.000 0.080 6 7579820 stop gained T/A snv 0.700 0
dbSNP: rs727504498
rs727504498
DSP
1 6 7570477 stop gained C/T snv 0.700 0
dbSNP: rs727504738
rs727504738
DSP
1 6 7559294 frameshift variant CC/AGCTCGAGTCCCTCG delins 0.700 0
dbSNP: rs727505077
rs727505077
DSP
1 6 7571432 frameshift variant A/- del 0.700 0