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: rs771170000
rs771170000
B9D1
0.925 0.160 17 19360357 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C4310706
Disease: JOUBERT SYNDROME 27
JOUBERT SYNDROME 27 		0.800 0
dbSNP: rs886038205
rs886038205
B9D1
1.000 17 19343795 missense variant C/G;T snv 8.0E-06 1.4E-05
CUI: C4310706
Disease: JOUBERT SYNDROME 27
JOUBERT SYNDROME 27 		0.800 1.000 0 2014 2014
dbSNP: rs143149764
rs143149764
B9D1
0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2011 2011
dbSNP: rs143149764
rs143149764
B9D1
0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs369488112
rs369488112
B9D1
1.000 0.160 17 19343796 missense variant G/A snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs373478202
rs373478202
B9D1
1.000 0.160 17 19347840 missense variant G/A;C;T snv 3.6E-05; 4.0E-06; 8.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs771170000
rs771170000
B9D1
0.925 0.160 17 19360357 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs143149764
rs143149764
B9D1
0.882 0.200 17 19347782 splice donor variant A/G snv 2.8E-05 9.1E-05
CUI: C3280155
Disease: MECKEL SYNDROME, TYPE 9
MECKEL SYNDROME, TYPE 9 		0.700 0
dbSNP: rs886038206
rs886038206
B9D1
1.000 17 19343412 inframe deletion CAC/- delins 4.0E-06
CUI: C4310706
Disease: JOUBERT SYNDROME 27
JOUBERT SYNDROME 27 		0.700 0
dbSNP: rs886039811
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.700 0
dbSNP: rs886039811
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.700 0
dbSNP: rs886039811
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039811
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.700 0
dbSNP: rs886039811
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs886039811
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0