Source: BEFREE

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: rs1204340475
rs1204340475
CCNH ; RASA1
0.925 0.120 5 87376941 stop gained C/T snv 7.0E-06
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		0.010 1.000 1 2007 2007
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2007 2007
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2007 2007
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2007 2007
dbSNP: rs2266690
rs2266690
CCNH
1.000 0.120 5 87399457 missense variant A/G;T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs2290280
rs2290280
CCNH ; LOC105379066
5 87412904 5 prime UTR variant C/A;T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2017 2017
dbSNP: rs532587037
rs532587037
CCNH ; RASA1
0.925 0.120 5 87353227 missense variant C/T snv 1.0E-04 2.1E-05
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		0.010 1.000 1 2013 2013
dbSNP: rs532587037
rs532587037
CCNH ; RASA1
0.925 0.120 5 87353227 missense variant C/T snv 1.0E-04 2.1E-05
CUI: C0242855
Disease: Congenital atresia of pulmonary valve
Congenital atresia of pulmonary valve 		0.010 1.000 1 2013 2013
dbSNP: rs574202455
rs574202455
CCNH ; RASA1
1.000 0.120 5 87353228 missense variant C/T snv
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.010 1.000 1 2013 2013
dbSNP: rs751563679
rs751563679
CCNH ; RASA1
1.000 0.120 5 87389444 missense variant C/T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 1.000 1 2003 2003
dbSNP: rs772301300
rs772301300
CCNH ; RASA1
0.882 0.040 5 87331351 stop gained G/A snv 4.0E-06
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		0.010 1.000 1 2007 2007
dbSNP: rs772301300
rs772301300
CCNH ; RASA1
0.882 0.040 5 87331351 stop gained G/A snv 4.0E-06
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		0.010 1.000 1 2007 2007
dbSNP: rs772301300
rs772301300
CCNH ; RASA1
0.882 0.040 5 87331351 stop gained G/A snv 4.0E-06
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		0.010 1.000 1 2007 2007
dbSNP: rs778990691
rs778990691
CCNH
0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2007 2007
dbSNP: rs778990691
rs778990691
CCNH
0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		0.010 1.000 1 2007 2007
dbSNP: rs778990691
rs778990691
CCNH
0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2007 2007
dbSNP: rs778990691
rs778990691
CCNH
0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2007 2007
dbSNP: rs778990691
rs778990691
CCNH
0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.010 1.000 1 2007 2007
dbSNP: rs778990691
rs778990691
CCNH
0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.010 1.000 1 2007 2007