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: rs267607040
rs267607040
0.846 0.286 18 44951948 missense variant G/A snp
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.800 4 2008 2011
dbSNP: rs267607042
rs267607042
0.821 0.286 18 44951942 missense variant G/A,C snp
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.800 3 2008 2015
dbSNP: rs267607038
rs267607038
0.878 0.286 18 44951952 missense variant T/C snp 8.0E-06
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.800 2 2008 2010
dbSNP: rs267607039
rs267607039
1.000 0.214 18 44951949 missense variant G/A snp
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.800 2 2010 2013
dbSNP: rs267607040
rs267607040
0.846 0.286 18 44951948 missense variant G/A snp
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Hemic and Lymphatic Diseases; Neoplasms 0.800 1 2013 2013
dbSNP: rs267607041
rs267607041
1.000 0.214 18 44951943 missense variant A/C snp
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.800 1 2010 2010
dbSNP: rs267607040
rs267607040
0.846 0.286 18 44951948 missense variant G/A snp
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Hemic and Lymphatic Diseases; Neoplasms 0.710 1.000 1 2013 2013
dbSNP: rs1057519594
rs1057519594
1.000 18 44951356 frameshift variant C/CT in-del
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 2 2014 2015
dbSNP: rs6507583
rs6507583
1.000 0.071 18 44819625 intron variant A/G snp 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 2 2015 2018
dbSNP: rs10853525
rs10853525
18 44856687 intron variant C/T snp 0.36
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
0.700 1 2017 2017
dbSNP: rs17782904
rs17782904
0.923 0.107 18 44733745 intron variant G/A snp 0.18
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
Cardiovascular Diseases; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases 0.700 1 2017 2017
dbSNP: rs17782904
rs17782904
0.923 0.107 18 44733745 intron variant G/A snp 0.18
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm
Cardiovascular Diseases 0.700 1 2017 2017
dbSNP: rs606231269
rs606231269
1.000 18 44951804 frameshift variant AA/A in-del
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 1 2014 2014
dbSNP: rs606231270
rs606231270
1.000 18 44952372 stop gained C/G snp
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 1 2014 2014
dbSNP: rs606231271
rs606231271
1.000 18 44701773 frameshift variant CC/C in-del
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 1 2014 2014
dbSNP: rs606231272
rs606231272
1.000 18 44951213 stop gained C/T snp
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 1 2014 2014
dbSNP: rs606231273
rs606231273
1.000 18 44951216 stop gained C/T snp
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 1 2014 2014
dbSNP: rs672601342
rs672601342
1.000 18 44950936 stop gained G/A,T snp
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 1 2014 2014
dbSNP: rs778181199
rs778181199
1.000 0.071 18 44952824 missense variant C/T snp 2.0E-05 3.2E-05
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
Digestive System Diseases; Neoplasms 0.700 1 2006 2006
dbSNP: rs797045952
rs797045952
1.000 0.214 18 44951161 frameshift variant CC/C in-del
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.700 1 2015 2015
dbSNP: rs991014
rs991014
18 44859921 intron variant C/T snp 0.36
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
0.700 1 2017 2017
dbSNP: rs9954058
rs9954058
1.000 0.071 18 44831838 intron variant G/A,C snp 3.2E-05; 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1 2018 2018
dbSNP: rs267607038
rs267607038
0.878 0.286 18 44951952 missense variant T/C snp 8.0E-06
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Hemic and Lymphatic Diseases; Neoplasms 0.700 0
dbSNP: rs267607038
rs267607038
0.878 0.286 18 44951952 missense variant T/C snp 8.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Hemic and Lymphatic Diseases; Neoplasms 0.700 0
dbSNP: rs267607040
rs267607040
0.846 0.286 18 44951948 missense variant G/A snp
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
0.700 0