Source: ALL

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: rs397509391
rs397509391
DNMT1
1.000 19 10154602 missense variant C/A snv
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.820 1.000 2 2012 2019
dbSNP: rs397509393
rs397509393
DNMT1
1.000 19 10154604 missense variant C/G;T snv
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.810 1.000 2 2012 2019
dbSNP: rs397509392
rs397509392
DNMT1
1.000 19 10154709 missense variant G/A;C snv
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		0.810 1.000 1 2012 2012
dbSNP: rs199473690
rs199473690
DNMT1
1.000 0.080 19 10155017 missense variant T/C snv
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.800 1.000 1 2011 2011
dbSNP: rs869312749
rs869312749
DNMT1 ; S1PR2
1.000 0.120 19 10224583 missense variant C/G snv
CUI: C1835854
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 68
DEAFNESS, AUTOSOMAL RECESSIVE 68 		0.800 1.000 1 2016 2016
dbSNP: rs869312750
rs869312750
DNMT1 ; S1PR2
1.000 0.120 19 10224487 missense variant T/C snv
CUI: C1835854
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 68
DEAFNESS, AUTOSOMAL RECESSIVE 68 		0.800 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
19 10222312 3 prime UTR variant C/A;G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
19 10222312 3 prime UTR variant C/A;G;T snv
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
19 10222312 3 prime UTR variant C/A;G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
19 10222312 3 prime UTR variant C/A;G;T snv
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
19 10222312 3 prime UTR variant C/A;G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
19 10222312 3 prime UTR variant C/A;G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs11085720
rs11085720
DNMT1
19 10207087 intron variant A/G snv 0.54
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs117064827
rs117064827
DNMT1 ; S1PR2
19 10224049 missense variant A/G;T snv 7.3E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs140658666
rs140658666
DNMT1 ; S1PR2
19 10228310 intron variant CAAAACAAAACAAAA/-;CAAAA;CAAAACAAAA;CAAAACAAAACAAAACAAAA;CAAAACAAAACAAAACAAAACAAAA delins 0.14
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2116942
rs2116942
DNMT1 ; S1PR2
19 10223987 missense variant T/A;G snv 3.5E-04; 0.54
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs2288937
rs2288937
DNMT1 ; S1PR2 ; MIR4322
19 10230236 intron variant A/C;G snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs78333947
rs78333947
DNMT1
19 10143085 intron variant G/A snv 3.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1568234664
rs1568234664
DNMT1
1.000 0.080 19 10154774 splice acceptor variant C/A snv
CUI: C0025286
Disease: Meningioma
Meningioma 		0.700 0
dbSNP: rs199473691
rs199473691
DNMT1
1.000 0.080 19 10155029 missense variant GGA/TAT mnv
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.700 0
dbSNP: rs199473692
rs199473692
DNMT1
1.000 0.080 19 10155018 missense variant A/G snv
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		0.700 0
dbSNP: rs16999593
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 1.000 3 2012 2019
dbSNP: rs16999593
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.030 1.000 3 2012 2019
dbSNP: rs16999593
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2012 2017
dbSNP: rs16999593
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2012 2017