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
RS1553766930 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1553767857 ATP2C1 Health Risk Pathogenic —
RS1553768038 ARHGAP31 Health Risk Pathogenic Adams-Oliver syndrome 1, Adams-Oliver syndrome 1
RS1553768108 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1553768726 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1553768938 CASR Health Risk Pathogenic —
RS1553768972 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1553768983 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1553768989 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1553769004 CASR Health Risk Pathogenic —
RS1553769052 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1553769059 CASR Health Risk Likely pathogenic CASR-related disorder, CASR-related disorder
RS1553769169 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1
RS1553769428 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1553769457 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Juvenile hemochromatosis
RS1553769459 HJV Health Risk Pathogenic —
RS1553769576 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553769611 TTN Health Risk Conflicting classifications of pathogenicity —
RS1553769646 HJV Health Risk Pathogenic —
RS1553769690 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1553769735 HJV Health Risk Pathogenic —
RS1553769745 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1553769758 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1553769886 HJV Health Risk Pathogenic —
RS1553770003 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553770146 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553770178 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553770434 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS1553770510 GATA2 Health Risk Pathogenic/Likely pathogenic Leukemia, acute myeloid
RS1553770562 UBA5 Health Risk Pathogenic —
RS1553770577 UBA5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
RS1553770655 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS1553770949 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1553770978 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Monocytopenia with susceptibility to infections
RS1553771050 GATA2 Health Risk Pathogenic —
RS1553771772 NPHP3 Health Risk Pathogenic —
RS1553771818 NPHP3 Health Risk Pathogenic —
RS1553772595 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3A, Usher syndrome type 3A
RS1553773271 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS1553773296 NPHP3 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS1553774015 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553774018 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553774114 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553774672 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1553774884 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553775177 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1553775212 TTN Health Risk Pathogenic CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement, TTN-related myopathy
RS1553775392 NPHP3 Health Risk Likely pathogenic —
RS1553775581 ATP2C1 Health Risk Pathogenic —
RS1553775991 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553776036 CLRN1 Health Risk Pathogenic Usher syndrome type 3, Usher syndrome type 3
RS1553776052 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3A, Usher syndrome type 3A
RS1553776061 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3A, Usher syndrome type 3A
RS1553776112 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3A, Usher syndrome type 3A
RS1553776132 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3A, Usher syndrome type 3A
RS1553776135 CLRN1 Health Risk Likely pathogenic Hearing impairment, Usher syndrome type 3A
RS1553776921 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1553777571 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553777590 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553778017 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1553778044 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1553778114 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1553778179 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1553778185 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1553778198 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1553778291 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1553778865 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553778909 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553778912 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553778914 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553779458 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553779765 MASP1 Health Risk Pathogenic —
RS1553780163 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553780501 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS1553780837 RHO Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1553781140 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS1553781176 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 4
RS1553781304 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS1553781360 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 4
RS1553782108 TTN Health Risk Conflicting classifications of pathogenicity —
RS1553782747 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553782779 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553784569 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1553784684 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553784721 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1553784921 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1553784980 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553784985 OPA1 Health Risk Pathogenic Optic atrophy, Autosomal dominant optic atrophy classic form
RS1553785025 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1553785033 SLC2A2 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553785139 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1553785222 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS1553785338 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS1553785362 OPA1 Health Risk Pathogenic —
RS1553785722 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553786361 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553786499 OPA1 Health Risk Likely pathogenic —
RS1553787619 MYLK Health Risk Pathogenic Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
RS1553787823 MYLK Health Risk Pathogenic Visceral myopathy 1, Megacystis
RS1553787992 OPA1 Health Risk Pathogenic —
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