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: rs886037938
rs886037938
1.000 15 26621417 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 1.000 6 2013 2017
dbSNP: rs886037939
rs886037939
1.000 15 26580456 missense variant T/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 1.000 6 2013 2017
dbSNP: rs886037940
rs886037940
1.000 15 26567671 missense variant G/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 1.000 6 2013 2017
dbSNP: rs886037941
rs886037941
1.000 15 26561099 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 1.000 6 2013 2017
dbSNP: rs3212335
rs3212335
1.000 0.080 15 26766994 intron variant C/T snv 0.32
CUI: C0023980
Disease: Longevity
Longevity
0.800 1.000 1 2010 2010
dbSNP: rs1555401440
rs1555401440
1.000 15 26561149 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs1555401440
rs1555401440
1.000 15 26561149 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 11 2008 2017
dbSNP: rs1555401440
rs1555401440
1.000 15 26561149 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs797045045
rs797045045
1.000 15 26567721 missense variant C/G;T snv
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.700 1.000 2 2016 2017
dbSNP: rs1057519201
rs1057519201
1.000 15 26621395 missense variant T/C snv
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.700 1.000 1 2017 2017
dbSNP: rs1057519201
rs1057519201
1.000 15 26621395 missense variant T/C snv
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
0.700 1.000 1 2017 2017
dbSNP: rs11161335
rs11161335
15 26758948 intron variant T/A snv 0.48
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs11631129
rs11631129
15 26732026 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs12440086
rs12440086
15 26793345 intron variant C/A snv 0.42
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2017 2017
dbSNP: rs12910337
rs12910337
15 26748096 intron variant C/T snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs1432007
rs1432007
15 26565542 intron variant A/G;T snv 0.53
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs3212332
rs3212332
15 26768806 intron variant T/A snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs3212343
rs3212343
15 26764379 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4392030
rs4392030
15 26777184 intron variant G/C snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4632102
rs4632102
15 26789887 non coding transcript exon variant C/T snv 0.90
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4906898
rs4906898
15 26733600 intron variant A/C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4906904
rs4906904
15 26788938 intron variant A/C;G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4906905
rs4906905
15 26789098 intron variant T/A snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs4906906
rs4906906
15 26789376 intron variant A/C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs6576604
rs6576604
15 26750050 non coding transcript exon variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013