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
RS1559920341 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS1559921677 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559921797 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559921800 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559921849 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559921874 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559921944 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559921973 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922013 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922026 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922033 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922136 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922257 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922261 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922308 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922381 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922416 COL4A3 Health Risk Pathogenic —
RS1559922462 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922470 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922472 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922473 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922476 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922498 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1559922528 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1559922558 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1559922577 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1559922621 FOXL2 Health Risk Pathogenic/Likely pathogenic Blepharophimosis, ptosis
RS1559922628 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922634 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1559922647 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1559922657 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922782 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559922829 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1559926604 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1559927542 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS1559930732 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS1559931177 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS1559931820 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1559934279 AGTR1 Health Risk Likely pathogenic Essential hypertension, Renal tubular dysgenesis
RS1559935542 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS1559940237 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS1559940778 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1559941008 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1559941903 PDCD10 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1559941951 PDCD10 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation
RS1559943990 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS1559944592 PDCD10 Health Risk Likely pathogenic —
RS1559944602 PDCD10 Health Risk Likely pathogenic —
RS1559945126 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1559945136 PDCD10 Health Risk Pathogenic —
RS1559952217 PDCD10 Health Risk Pathogenic —
RS1559952220 PDCD10 Health Risk Likely pathogenic —
RS1559952317 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1559952461 PDCD10 Health Risk Likely pathogenic —
RS1559952467 PDCD10 Health Risk Likely pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1559952676 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS1559953791 PDCD10 Health Risk Likely pathogenic —
RS1559955362 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1559955466 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1559956508 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1559956616 CASR Health Risk Pathogenic —
RS1559956683 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1559958757 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1559958979 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1559959294 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1559959758 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1559960758 PDCD10 Health Risk Likely pathogenic —
RS1559961997 MME Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS1559963660 MME Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS1559966797 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1559967310 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1559968657 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1559968699 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1559968729 CASR Health Risk Likely pathogenic —
RS1559969429 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1559971312 ARL13B Health Risk Pathogenic/Likely pathogenic Joubert syndrome 8, Joubert syndrome 8
RS1559971447 ATP2C1 Health Risk Pathogenic Familial benign pemphigus, Familial benign pemphigus
RS1559974529 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559975119 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559977271 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559980771 RNF13 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 73
RS1559980785 RNF13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 73
RS1559981249 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS1559982055 ATP2C1 Health Risk Pathogenic Familial benign pemphigus, Familial benign pemphigus
RS1559982532 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS1559982739 CLRN1 Health Risk Pathogenic Usher syndrome type 3, Usher syndrome type 3
RS1559984993 ATR Health Risk Pathogenic —
RS1559985057 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1559985787 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1559986109 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1559986946 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1559987322 GATA2 Health Risk Pathogenic multilineage dysplasia, multilineage dysplasia
RS1559992784 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1559995259 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1559995920 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS1559998737 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS1559998795 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 3, Nephronophthisis 3
RS1559999373 ARHGAP31 Health Risk Pathogenic Adams-Oliver syndrome 1, Adams-Oliver syndrome 1
RS1560000875 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1560002113 NPHP3 Health Risk Pathogenic Nephronophthisis, NPHP3-related Meckel-like syndrome
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