NRXN1, neurexin 1, 9378

N. diseases: 20; N. variants: 26
Source: CURATED ×
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: rs6750228
rs6750228
2 51084986 intron variant T/A snv 6.9E-02
CUI: C0001925
Disease: Albuminuria
Albuminuria
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6754640
rs6754640
2 50504180 intron variant G/A;T snv
CUI: C0039474
Disease: Temperament
Temperament
Behavior and Behavior Mechanisms 0.700 1.000 1 2012 2012
dbSNP: rs7557525
rs7557525
2 51023367 intron variant T/C snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs7603103
rs7603103
2 51118669 intron variant A/G snv 0.24
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs930295
rs930295
2 50006214 intron variant A/C snv 0.89
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs1558507406
rs1558507406
1.000 2 49922173 frameshift variant -/CCGT delins
CUI: C3808494
Disease: CHROMOSOME 2p16.3 DELETION SYNDROME
CHROMOSOME 2p16.3 DELETION SYNDROME
0.700 0
dbSNP: rs199546979
rs199546979
1.000 0.080 2 50236836 stop gained G/A snv
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267606922
rs267606922
1.000 2 50496039 stop gained G/C snv 4.1E-06
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2
0.700 0