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: rs1553630457
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 1.000 1 2017 2017
dbSNP: rs1057518909
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs1232880706
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs143044921
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
0.851 0.240 9 134701287 missense variant G/T snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs61729366
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs863224493
rs863224493
NF1
0.925 0.120 17 31352281 stop gained G/A snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs875989800
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs886039900
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs886041239
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0