SRBD1, S1 RNA binding domain 1, 55133

N. diseases: 6; N. variants: 5
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: rs3213787
rs3213787
0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma
Eye Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1014454
rs1014454
1.000 0.040 2 45391834 intron variant T/C snv 0.43
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17033598
rs17033598
1.000 0.040 2 45396673 intron variant A/G snv 0.10
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs34669198
rs34669198
1.000 0.080 2 45521138 intron variant C/T snv 0.11
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3770253
rs3770253
2 45442346 intron variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs3213787
rs3213787
0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
Eye Diseases 0.010 1.000 1 2011 2011