SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2538133254 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538133481 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538134281 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2538134289 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538135168 NFIB Health Risk Pathogenic Macrocephaly, acquired
RS2538140303 ABCA1 Health Risk Likely pathogenic Tangier disease, Tangier disease
RS2538141187 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538143965 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538144707 VPS13A Health Risk Likely pathogenic —
RS2538145772 ABCA1 Health Risk Pathogenic —
RS2538146279 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538146766 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538146800 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538148144 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538148588 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538149666 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538149907 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2538151189 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538152246 ARID1B Health Risk Likely pathogenic ARID1B-related disorder, ARID1B-related disorder
RS2538153727 VPS13A Health Risk Likely pathogenic —
RS2538157231 VPS13A Health Risk Likely pathogenic —
RS2538157277 VPS13A Health Risk Pathogenic —
RS2538158626 MAGI2 Health Risk Pathogenic —
RS2538159427 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538159743 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538161782 VPS13A Health Risk Pathogenic —
RS2538161951 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538162178 VPS13A Health Risk Pathogenic —
RS2538176853 ABCA1 Health Risk Likely pathogenic Hypoalphalipoproteinemia, primary
RS2538177209 ABCA1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2538180082 ABCA1 Health Risk Pathogenic —
RS2538180519 VPS13A Health Risk Pathogenic —
RS2538180852 VPS13A Health Risk Pathogenic —
RS2538181864 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538181962 CNGB3 Health Risk Likely pathogenic —
RS2538185624 VPS13A Health Risk Likely pathogenic —
RS2538191114 VPS13A Health Risk Pathogenic —
RS2538191594 ABCA2 Health Risk Likely pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS2538192041 CNGB3 Health Risk Pathogenic —
RS2538192076 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538195950 CNGB3 Health Risk Pathogenic —
RS2538195958 CNGB3 Health Risk Pathogenic —
RS2538196058 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538198237 VPS13A Health Risk Pathogenic —
RS2538198396 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538198952 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538202778 VPS13A Health Risk Pathogenic —
RS2538203386 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538203535 VPS13A Health Risk Pathogenic —
RS2538203614 EHMT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538204213 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538204585 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538204787 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538205186 PTCH1 Health Risk Pathogenic —
RS2538205218 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538206174 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538206190 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538206242 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538207078 VPS13A Health Risk Likely pathogenic —
RS2538209896 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538210226 PTCH1 Health Risk Pathogenic —
RS2538210306 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538210433 ADAMTSL2 Health Risk Likely pathogenic ADAMTSL2-related disorder, ADAMTSL2-related disorder
RS2538210853 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538211745 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538211802 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538211894 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538214996 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2538215743 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2538216536 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2538216680 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538217131 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538217218 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2538217380 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538217642 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS2538217687 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538224503 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538224992 PTCH1 Health Risk Pathogenic —
RS2538225516 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538226569 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538230203 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538230250 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2538231122 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538231304 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538233265 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538233913 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538233982 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538234144 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538234385 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS2538234398 PGM3 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2538234999 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538235439 PGM3 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538235844 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538237773 SLC44A1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS2538239953 PGM3 Health Risk Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538244290 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538244312 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538244369 PTCH1 Health Risk Pathogenic PTCH1-related disorder, PTCH1-related disorder
RS2538244446 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538244596 PTCH1 Health Risk Likely pathogenic Basal cell nevus syndrome 1, Basal cell nevus syndrome 1
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