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: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
0.925 0.040 12 21817283 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1999 2013
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1968 2013
dbSNP: rs116128702
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs1554109707
rs1554109707
FLT4
1.000 5 180613051 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1998 2013
dbSNP: rs375053470
rs375053470
DNAH5
5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs755407407
rs755407407
DNAH5
0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs981267400
rs981267400
DNAH5
5 13871562 splice donor variant A/G snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs1553477189
rs1553477189
GLI2
2 120982843 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2003 2013
dbSNP: rs1553479405
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2003 2013
dbSNP: rs869312965
rs869312965
GLI2
1.000 2 120955349 frameshift variant G/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2003 2013
dbSNP: rs121918374
rs121918374
PYCR1
0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2009 2013
dbSNP: rs1282248700
rs1282248700
RAB3GAP1
1.000 2 135133919 frameshift variant GT/- delins 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2005 2013
dbSNP: rs144346996
rs144346996
PYCR1
0.925 0.080 17 81934652 splice donor variant C/G snv 2.9E-05 7.7E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2009 2013
dbSNP: rs752667359
rs752667359
RAB3GAP1
1.000 2 135134005 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2005 2013
dbSNP: rs755867227
rs755867227
PYCR1
1.000 17 81936122 splice donor variant C/T snv 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2009 2013
dbSNP: rs773157352
rs773157352
OTX2
1.000 14 56804235 stop gained G/A;T snv 8.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2008 2013
dbSNP: rs1553706324
rs1553706324
SCN5A
3 38614067 splice acceptor variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1998 2014
dbSNP: rs1553153365
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1998 2014
dbSNP: rs147334255
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1995 2014
dbSNP: rs1553485330
rs1553485330
TTN ; TTN-AS1
2 178531129 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1991 2014
dbSNP: rs1553650442
rs1553650442
TTN ; TTN-AS1
0.925 0.160 2 178593732 frameshift variant C/-;CCC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1991 2014
dbSNP: rs917027829
rs917027829
CSF1R
1.000 5 150069942 stop gained G/A;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1984 2014
dbSNP: rs1557189592
rs1557189592
FGD1
1.000 X 54470120 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 1996 2014
dbSNP: rs756586058
rs756586058
FGD1
1.000 0.160 X 54470715 frameshift variant G/-;GG delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 1996 2014