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: rs1555756091
rs1555756091
1.000 19 13298847 frameshift variant -/A ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 46 1988 2017
dbSNP: rs1554226131
rs1554226131
1.000 6 157148899 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 20 1984 2017
dbSNP: rs1554588675
rs1554588675
1.000 8 60781137 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 20 1999 2016
dbSNP: rs1555985620
rs1555985620
1.000 21 37493094 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 18 1990 2016
dbSNP: rs797044523
rs797044523
0.882 21 37480756 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 18 1990 2016
dbSNP: rs1555564175
rs1555564175
1.000 17 44853630 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 2006 2017
dbSNP: rs1555392032
rs1555392032
1.000 15 38339805 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 14 1988 2013
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs886041185
rs886041185
0.925 0.320 8 99835295 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1998 2015
dbSNP: rs1057516904
rs1057516904
0.925 0.160 19 7528881 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 11 1998 2016
dbSNP: rs1555868362
rs1555868362
1.000 20 58840368 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 1993 2017
dbSNP: rs782061187
rs782061187
1.000 9 133351945 frameshift variant -/A delins 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 7 1998 2016
dbSNP: rs1555902810
rs1555902810
1.000 22 35781685 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 2005 2016
dbSNP: rs1462161137
rs1462161137
1.000 17 76733042 frameshift variant -/A delins 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 2 2014 2014
dbSNP: rs1555951981
rs1555951981
1.000 X 18604131 frameshift variant -/AC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2016
dbSNP: rs1555040480
rs1555040480
1.000 11 118484971 splice donor variant -/AG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1554189042
rs1554189042
1.000 5 177210101 stop gained -/AG ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2002 2013
dbSNP: rs1555904596
rs1555904596
1.000 X 8731936 frameshift variant -/AGCAGCCGCGC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 7 1991 2014
dbSNP: rs1555188623
rs1555188623
1.000 12 49033147 frameshift variant -/AGCCTGTGTCC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 25 1988 2017
dbSNP: rs1555815437
rs1555815437
1.000 19 40512839 frameshift variant -/AGCGGGCGGCGCGCATGACC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 14 2000 2017
dbSNP: rs746593718
rs746593718
1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 1991 2016
dbSNP: rs606231189
rs606231189
0.925 0.040 X 19359619 frameshift variant -/ATCA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 1995 2016
dbSNP: rs1555533842
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 34 1967 2017
dbSNP: rs1555053483
rs1555053483
1.000 11 118521302 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1554602564
rs1554602564
1.000 8 60845311 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 20 1999 2016