NCAM2, neural cell adhesion molecule 2, 4685

N. diseases: 21; N. variants: 10
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: rs11088859
rs11088859
1.000 0.080 21 21317024 intron variant G/A snv 4.5E-02
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs2826891
rs2826891
21 21537795 intron variant C/T snv 0.43 0.47
CUI: C0023980
Disease: Longevity
Longevity
0.800 1.000 1 2010 2010
dbSNP: rs111478044
rs111478044
1.000 0.120 21 21308069 intron variant TA/-;TATA delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11911765
rs11911765
21 21007727 intron variant T/C snv 0.55
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs232464
rs232464
21 21323001 intron variant T/C snv 0.72
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs2826851
rs2826851
21 21463626 intron variant A/G snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs34963977
rs34963977
21 21467383 intron variant ATATAT/-;AT;ATAT;ATATATAT;ATATATATAT;ATATATATATAT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs35384524
rs35384524
1.000 0.080 21 21017373 intron variant C/G;T snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.700 1.000 1 2019 2019
dbSNP: rs529138199
rs529138199
1.000 0.080 21 21005810 intron variant C/A;G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs968910165
rs968910165
21 21286370 missense variant A/G;T snv 4.0E-06 1.4E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016