ARHGEF18 Chromosome 19

Rho/Rac guanine nucleotide exchange factor 18
39 variants 39 Health Risk

Upload your DNA to see your personal genotypes for variants in ARHGEF18.

What This Gene Does
Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000104880
Associated Conditions (5)
Inborn genetic diseases
ARHGEF18-related disorder
Retinal dystrophy
Thymoma
Retinitis pigmentosa 78
Key Variants
RS1050542397
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115555106
Conflicting classifications of pathogenicity
Inborn genetic diseases, ARHGEF18-related disorder, Inborn genetic diseases
Health Risk
RS116148705
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140494987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146702874
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS150370217
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150442510
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thymoma, Inborn genetic diseases
Health Risk
RS180746700
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199567237
Conflicting classifications of pathogenicity
ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder
Health Risk
RS368141054
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374950645
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS531485198
Conflicting classifications of pathogenicity
ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder
Health Risk
All Variants (39)
RSID Category Clinical Significance Conditions
RS1050542397 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115555106 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARHGEF18-related disorder, Inborn genetic diseases
RS116148705 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140494987 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146702874 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
RS150370217 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150442510 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thymoma, Inborn genetic diseases
RS180746700 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199567237 Health Risk Conflicting classifications of pathogenicity ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder
RS368141054 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374950645 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531485198 Health Risk Conflicting classifications of pathogenicity ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder
RS534187677 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555008215 Health Risk Conflicting classifications of pathogenicity ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder
RS567018549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567452162 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777373247 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS955776981 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS201797784 Health Risk Likely pathogenic Retinitis pigmentosa 78, Retinal dystrophy, Retinitis pigmentosa 78
RS987233144 Health Risk Likely pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS1025337841 Health Risk Pathogenic
RS1064793000 Health Risk Pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS1064793001 Health Risk Pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS1353606328 Health Risk Pathogenic
RS1446982305 Health Risk Pathogenic
RS1974567691 Health Risk Pathogenic
RS1974868088 Health Risk Pathogenic
RS1976849780 Health Risk Pathogenic
RS2145910842 Health Risk Pathogenic
RS2145912242 Health Risk Pathogenic
RS2512273417 Health Risk Pathogenic
RS2512328575 Health Risk Pathogenic
RS2512328838 Health Risk Pathogenic
RS2512358919 Health Risk Pathogenic
RS2512446194 Health Risk Pathogenic
RS753598640 Health Risk Pathogenic
RS767689418 Health Risk Pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS769056840 Health Risk Pathogenic
RS1064793002 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
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