RPAIN, RPA interacting protein, 84268

N. diseases: 60; N. variants: 8
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: rs1555532483
rs1555532483 		1.000 17 5433040 missense variant A/G snv
CUI: C4540209
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 		0.800 1.000 1 2017 2017
dbSNP: rs1555532484
rs1555532484 		1.000 17 5433041 missense variant G/A snv
CUI: C4540209
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 		0.800 1.000 1 2017 2017
dbSNP: rs767427194
rs767427194 		1.000 17 5433380 missense variant G/C snv 2.4E-05 2.8E-05
CUI: C4540209
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 		0.800 0
dbSNP: rs1071648
rs1071648 		17 5422769 splice region variant C/T snv 0.37 0.30
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs11650324
rs11650324 		17 5426866 non coding transcript exon variant A/G;T snv
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs2189336
rs2189336 		17 5422842 non coding transcript exon variant G/A;T snv 0.61
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs8070740
rs8070740 		17 5428576 3 prime UTR variant A/G snv 0.26
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs1394499137
rs1394499137 		1.000 17 5433125 missense variant C/A;G snv 4.0E-06
CUI: C4540209
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 		0.700 0