SNX32, sorting nexin 32, 254122

N. diseases: 6; N. variants: 3
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: rs17854357
rs17854357
11 65834089 splice region variant G/C;T snv 0.12; 5.8E-05
CUI: C1314691
Disease: Age at menarche
Age at menarche
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs11227332
rs11227332
1.000 0.080 11 65856268 5 prime UTR variant A/G snv 0.15 0.14
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4621
rs4621
1.000 0.080 11 65856048 synonymous variant G/A snv 0.57 0.52
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007