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
RS2503048132 SPTB Health Risk Pathogenic —
RS2503048142 SPTB Health Risk Likely pathogenic —
RS2503048651 SPTB Health Risk Likely pathogenic —
RS2503049019 SPTB Health Risk Pathogenic —
RS2503049635 SPTB Health Risk Likely pathogenic —
RS2503054402 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2503055611 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503056792 SPTB Health Risk Likely pathogenic —
RS2503056894 SPTB Health Risk Likely pathogenic —
RS2503057230 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS2503057247 SPTB Health Risk Pathogenic —
RS2503058049 SPTB Health Risk Pathogenic —
RS2503060145 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503060154 SPTB Health Risk Likely pathogenic —
RS2503060181 SPTB Health Risk Likely pathogenic —
RS2503060526 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503060553 SPTB Health Risk Pathogenic —
RS2503060655 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503060786 SPTB Health Risk Likely pathogenic —
RS2503060918 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503061238 SPTB Health Risk Likely pathogenic —
RS2503061513 SPTB Health Risk Likely pathogenic —
RS2503063102 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Acne inversa
RS2503063306 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Frontotemporal dementia
RS2503065505 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503065637 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503065866 SPTB Health Risk Likely pathogenic —
RS2503066387 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, SPTB-related disorder
RS2503070132 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503070664 SPTB Health Risk Pathogenic —
RS2503070978 SPTB Health Risk Likely pathogenic —
RS2503071579 SPTB Health Risk Likely pathogenic —
RS2503071678 SPTB Health Risk Likely pathogenic —
RS2503071813 SPTB Health Risk Pathogenic —
RS2503074347 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503074426 IRF2BPL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503074542 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503074890 IRF2BPL Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2503075312 IRF2BPL Health Risk Likely pathogenic —
RS2503075725 IRF2BPL Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503075934 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503075991 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503076331 IRF2BPL Health Risk Likely pathogenic IRF2BPL-related disorder, IRF2BPL-related disorder
RS2503076418 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503076637 IRF2BPL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503076688 COQ6 Health Risk Pathogenic —
RS2503078022 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503078108 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503078190 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503078573 IRF2BPL Health Risk Pathogenic —
RS2503078768 IRF2BPL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2503078942 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503078947 IRF2BPL Health Risk Pathogenic —
RS2503079126 IRF2BPL Health Risk Pathogenic —
RS2503079188 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2503081410 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2503081595 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2503083810 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2503084712 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Spermatogenic failure 28
RS2503085082 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503087732 SPTB Health Risk Pathogenic —
RS2503087761 SPTB Health Risk Pathogenic —
RS2503087933 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503090474 SPTB Health Risk Pathogenic —
RS2503090652 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503091112 SPTB Health Risk Likely pathogenic —
RS2503091165 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503091365 SPTB Health Risk Likely pathogenic —
RS2503091656 SPTB Health Risk Likely pathogenic —
RS2503091962 NEMF Health Risk Likely pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS2503092135 SPTB Health Risk Pathogenic —
RS2503093700 DDHD1 Health Risk Likely pathogenic —
RS2503094311 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2503094343 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2503095549 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2503095616 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2503095628 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2503102733 SPTB Health Risk Likely pathogenic —
RS2503102750 FANCM Health Risk Likely pathogenic, low penetrance Premature ovarian failure 15, Premature ovarian failure 15
RS2503102921 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503102939 SPTB Health Risk Pathogenic —
RS2503102948 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503103844 SPTB Health Risk Likely pathogenic —
RS2503104309 SPTB Health Risk Pathogenic —
RS2503106913 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503109144 ZMYM2 Health Risk Pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2503110158 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2503112149 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2503112553 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503113076 SPTB Health Risk Likely pathogenic —
RS2503113857 SPTB Health Risk Likely pathogenic —
RS2503119018 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503119189 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503119393 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503119796 SPTB Health Risk Likely pathogenic —
RS2503120102 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503121282 SPTB Health Risk Likely pathogenic —
RS2503121304 SPTB Health Risk Conflicting classifications of pathogenicity —
RS2503121647 SPTB Health Risk Pathogenic —
RS2503122151 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
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