Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555611722
rs1555611722 		1.000 17 7900706 missense variant C/T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.800 1.000 2 2018 2019
dbSNP: rs1567861468
rs1567861468 		1.000 17 7903281 missense variant C/T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 2 2018 2019
dbSNP: rs7503751
rs7503751 		17 7886224 5 prime UTR variant G/A snv 5.3E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2019
dbSNP: rs1567855081
rs1567855081 		1.000 17 7900008 missense variant A/G snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567855669
rs1567855669 		1.000 17 7900352 missense variant G/T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567855704
rs1567855704 		1.000 17 7900368 missense variant G/A snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567856045
rs1567856045 		1.000 17 7900635 missense variant G/A snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567856331
rs1567856331 		1.000 17 7900707 missense variant G/A snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567860075
rs1567860075 		1.000 17 7902714 missense variant CG/TC mnv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567860112
rs1567860112 		1.000 17 7902719 missense variant G/C snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567860640
rs1567860640 		1.000 17 7902973 missense variant C/T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567860891
rs1567860891 		1.000 17 7903038 missense variant T/C snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567860919
rs1567860919 		1.000 17 7903048 missense variant A/G snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567861489
rs1567861489 		1.000 17 7903288 missense variant A/G snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567861501
rs1567861501 		1.000 17 7903291 missense variant G/A snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567861894
rs1567861894 		1.000 17 7903483 missense variant T/C snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567863732
rs1567863732 		1.000 17 7904572 missense variant G/A snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1567877108
rs1567877108 		1.000 17 7910479 missense variant G/T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs28441558
rs28441558 		1.000 0.080 17 7899800 intron variant T/C snv 4.3E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs377079849
rs377079849 		17 7884458 intron variant ATATATATATAT/-;AT;ATAT;ATATAT;ATATATAT;ATATATATAT;ATATATATATATAT;ATATATATATATATAT;ATATATATATATATATAT;ATATATATATATATATATAT;ATATATATATATATATATATAT;ATATATATATATATATATATATAT;ATATATATATATATATATATATATAT;ATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATAT delins 0.46
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs377079849
rs377079849 		17 7884458 intron variant ATATATATATAT/-;AT;ATAT;ATATAT;ATATATAT;ATATATATAT;ATATATATATATAT;ATATATATATATATAT;ATATATATATATATATAT;ATATATATATATATATATAT;ATATATATATATATATATATAT;ATATATATATATATATATATATAT;ATATATATATATATATATATATATAT;ATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATAT delins 0.46
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs377079849
rs377079849 		17 7884458 intron variant ATATATATATAT/-;AT;ATAT;ATATAT;ATATATAT;ATATATATAT;ATATATATATATAT;ATATATATATATATAT;ATATATATATATATATAT;ATATATATATATATATATAT;ATATATATATATATATATATAT;ATATATATATATATATATATATAT;ATATATATATATATATATATATATAT;ATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATAT delins 0.46
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs754919272
rs754919272 		1.000 17 7903043 missense variant C/A;T snv
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs9899375
rs9899375 		1.000 0.080 17 7908297 intron variant C/T snv 8.1E-03
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9899375
rs9899375 		1.000 0.080 17 7908297 intron variant C/T snv 8.1E-03
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015