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
RS2151675632 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151675756 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2151676035 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2151676915 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151680679 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151681264 IGF1R Health Risk Likely pathogenic Microcephaly, Growth delay due to insulin-like growth factor I resistance
RS2151682538 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151684070 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151684548 PKD1 Health Risk Likely pathogenic —
RS2151686766 PKD1 Health Risk Pathogenic —
RS2151687226 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151688569 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151689678 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151690905 IGF1R Health Risk Pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS2151694492 IGF1R Health Risk Likely pathogenic —
RS2151695024 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151695275 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151695288 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2151695526 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151695543 PKD1 Health Risk Pathogenic —
RS2151695909 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151697557 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151697614 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151698069 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151698853 TMEM231 Health Risk Pathogenic —
RS2151699315 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151699891 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151700036 TMEM231 Health Risk Pathogenic Meckel syndrome, type 11
RS2151700092 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151701503 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2151701696 ANKRD11 Health Risk Pathogenic —
RS2151701732 LMF1 Health Risk Likely pathogenic —
RS2151701755 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151701893 ANKRD11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, KBG syndrome
RS2151701931 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2151701964 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151702333 PKD1 Health Risk Pathogenic —
RS2151702587 TMEM231 Health Risk Pathogenic Joubert syndrome 20, Meckel syndrome
RS2151703086 ANKRD11 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2151703115 TMEM231 Health Risk Pathogenic Joubert syndrome 20, Meckel syndrome
RS2151703162 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2151703192 TMEM231 Health Risk Likely pathogenic Meckel syndrome, type 11
RS2151703297 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2151703550 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151704173 PKD1 Health Risk Likely pathogenic Enlarged kidney, Hyperechogenic kidneys
RS2151704327 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151704874 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151707040 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151707926 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151708486 IGF1R Health Risk Pathogenic —
RS2151708577 PKD1 Health Risk Likely pathogenic —
RS2151708652 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151708812 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151708958 PKD1 Health Risk Likely pathogenic —
RS2151710316 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151710347 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151710478 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151710519 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151710687 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2151710810 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151710940 TCF12 Health Risk Pathogenic HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
RS2151711045 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2151711054 TMEM231 Health Risk Pathogenic Meckel syndrome, type 11
RS2151712033 ZNF276;FANCA Health Risk Pathogenic —
RS2151712879 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2151714603 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151714613 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2151714666 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151714692 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151719218 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS2151724043 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151724149 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151724213 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151725680 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151726623 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151726658 IGF1R Health Risk Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS2151726823 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151726918 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151727019 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2151728030 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151728391 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151728536 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151728875 ANKRD11 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2151728882 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151729118 ANKRD11 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2151729320 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151729404 ANKRD11 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2151730040 ANKRD11 Health Risk Likely pathogenic —
RS2151730424 ANKRD11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151730563 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS2151732018 NEK8 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS2151732133 ANKRD11 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151732245 ANKRD11 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151732301 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2151732872 NEK8 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS2151733047 ANKRD11 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2151733504 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151733753 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151734908 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151735043 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
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