Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554263326
rs1554263326
RAC1
1.000 7 6387229 missense variant G/A snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554263624
rs1554263624
RAC1
0.925 0.120 7 6391932 missense variant A/G snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554263625
rs1554263625
RAC1
1.000 7 6391967 missense variant G/A;C snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554263626
rs1554263626
RAC1
1.000 7 6392006 missense variant T/G snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1554264268
rs1554264268
RAC1
0.925 0.120 7 6402337 missense variant G/A snv
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 1.000 1 2017 2017
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.710 1.000 2 2014 2016
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
0.851 0.120 7 6387262 missense variant C/T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
0.851 0.120 7 6387262 missense variant C/T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
0.851 0.120 7 6387262 missense variant C/T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
0.851 0.120 7 6387262 missense variant C/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs35589149
rs35589149
RAC1
7 6386642 intron variant G/C snv 0.15
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs35761891
rs35761891
RAC1
7 6398586 intron variant A/G snv 3.6E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs7784465
rs7784465
RAC1
7 6378644 intron variant T/C snv 0.15
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs79237498
rs79237498
RAC1
7 6397234 intron variant -/T;TT delins
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs79237498
rs79237498
RAC1
7 6397234 intron variant -/T;TT delins
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs836474
rs836474
RAC1
1.000 0.040 7 6394456 intron variant G/T snv 0.13
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 1 2012 2012
dbSNP: rs836489
rs836489
RAC1
0.882 0.040 7 6379042 intron variant T/G snv 0.62
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 1 2019 2019
dbSNP: rs836489
rs836489
RAC1
0.882 0.040 7 6379042 intron variant T/G snv 0.62
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs836489
rs836489
RAC1
0.882 0.040 7 6379042 intron variant T/G snv 0.62
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 1 2019 2019
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.070 1.000 7 2013 2019
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2016 2019
dbSNP: rs10951982
rs10951982
RAC1
0.851 0.160 7 6382925 intron variant G/A;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.020 1.000 2 2011 2015