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: rs1060500733
rs1060500733
SMAD4
1.000 0.120 18 51065563 stop gained C/T snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1060500734
rs1060500734
SMAD4
1.000 0.120 18 51067077 frameshift variant A/- del
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1060500739
rs1060500739
SMAD4
1.000 0.120 18 51048696 frameshift variant AAGGA/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1060500742
rs1060500742
SMAD4
1.000 0.120 18 51058181 frameshift variant GGCCTCAG/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1060503409
rs1060503409
BMPR1A
1.000 0.120 10 86919249 frameshift variant CTCT/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1064792985
rs1064792985
BMPR1A
1.000 0.120 10 86890203 frameshift variant TATTAATAACACATGC/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1131691179
rs1131691179
BMPR1A
1.000 0.120 10 86900037 frameshift variant TGATGGCAGCATTCGATG/GA delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1131691181
rs1131691181
BMPR1A
1.000 0.120 10 86921574 stop gained C/G snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs121912577
rs121912577
SMAD4
0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1230919713
rs1230919713
BMPR1A
1.000 0.120 10 86917292 stop gained C/A;T snv 4.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1316902116
rs1316902116
SMAD4
1.000 0.120 18 51054911 stop gained C/G;T snv 7.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1404557708
rs1404557708
BMPR1A
1.000 0.120 10 86919213 stop gained C/A;T snv 4.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554888970
rs1554888970
BMPR1A
1.000 0.120 10 86899822 frameshift variant AGAATGTTGTCGGACCAAT/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554888986
rs1554888986
BMPR1A
1.000 0.120 10 86899875 frameshift variant C/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554890213
rs1554890213
BMPR1A
1.000 0.120 10 86912276 stop gained C/A snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554890219
rs1554890219
BMPR1A
1.000 0.120 10 86912284 frameshift variant -/T delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554890759
rs1554890759
BMPR1A
1.000 0.120 10 86917188 frameshift variant -/G delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554890815
rs1554890815
BMPR1A
1.000 0.120 10 86917321 frameshift variant -/A delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554891032
rs1554891032
BMPR1A
1.000 0.120 10 86919218 frameshift variant -/ATTT delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554891043
rs1554891043
BMPR1A
1.000 0.120 10 86919259 frameshift variant -/C delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1554891570
rs1554891570
BMPR1A
1.000 0.120 10 86923393 stop gained C/T snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1555685624
rs1555685624
SMAD4
1.000 0.120 18 51054787 stop gained C/G snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1555686503
rs1555686503
SMAD4
1.000 0.120 18 51065596 frameshift variant AG/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1555686506
rs1555686506
SMAD4
1.000 0.120 18 51065604 frameshift variant A/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs1555686600
rs1555686600
SMAD4
1.000 0.120 18 51067045 frameshift variant TG/- del
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0