RHOC, ras homolog family member C, 389

N. diseases: 50; 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: rs12144044
rs12144044
1 112706169 5 prime UTR variant C/A;G snv 0.24
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2017 2017
dbSNP: rs12144044
rs12144044
1 112706169 5 prime UTR variant C/A;G snv 0.24
Creatinine measurement, serum (procedure)
0.700 1.000 1 2017 2017
dbSNP: rs11102522
rs11102522
1.000 0.040 1 112708266 intron variant T/C snv 0.19
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11538960
rs11538960
1.000 0.040 1 112701565 missense variant C/T snv 4.2E-04 5.2E-04
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016