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
RS2536095242 AKR1D1 Health Risk Likely pathogenic AKR1D1-related disorder, AKR1D1-related disorder
RS2536102793 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536102929 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2536104286 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536106288 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536111758 RHEB Health Risk Pathogenic Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS2536111808 RHEB Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS2536112446 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2536112593 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2536128236 LMBR1 Health Risk Likely pathogenic —
RS2536133540 ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS2536138966 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536140566 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536141413 SNX10 Health Risk Pathogenic —
RS2536141636 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536146406 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536148799 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2536149513 HSPB1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS2536151665 HSPB1 Health Risk Likely pathogenic —
RS2536151779 HSPB1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS2536153141 SNX10 Health Risk Likely pathogenic —
RS2536153213 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536153335 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536153865 SNX10 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8
RS2536153921 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2536154366 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2536154494 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536155330 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536155834 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2536155997 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536156382 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536159097 DST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536170302 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536170537 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536171215 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536177478 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536177746 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536178510 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536178614 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536179053 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536179118 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536179287 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS2536179633 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536180239 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536180514 YWHAG Health Risk Pathogenic —
RS2536180575 YWHAG Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 56
RS2536180587 YWHAG Health Risk Pathogenic —
RS2536180601 YWHAG Health Risk Pathogenic —
RS2536180773 YWHAG Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 56
RS2536180775 YWHAG Health Risk Pathogenic —
RS2536180810 YWHAG Health Risk Pathogenic —
RS2536180818 YWHAG Health Risk Pathogenic —
RS2536180828 YWHAG Health Risk Pathogenic —
RS2536180893 PKHD1 Health Risk Pathogenic PKHD1-related disorder, PKHD1-related disorder
RS2536180897 YWHAG Health Risk Pathogenic —
RS2536181240 YWHAG Health Risk Likely pathogenic —
RS2536181301 YWHAG Health Risk Pathogenic —
RS2536181478 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536181585 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS2536181646 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536182691 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536186153 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2536186819 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2536207106 YWHAG Health Risk Likely pathogenic —
RS2536214222 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536214833 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536215101 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS2536215574 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536216295 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536216638 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536218047 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536219121 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536219337 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536220015 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536220625 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536222225 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536223812 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536224387 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536225023 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2536225095 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536225468 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536225752 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536226192 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536226951 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536231064 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536232466 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536233791 DST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536250033 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536250159 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536251395 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536252125 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536252374 PKHD1 Health Risk Likely pathogenic PKHD1-related disorder, PKHD1-related disorder
RS2536253868 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536254210 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536254489 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS2536275504 CALU Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2536276180 PRKAG2 Health Risk Pathogenic Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart
RS2536281668 DST Health Risk Pathogenic DST-related disorder, DST-related disorder
RS2536286549 CAPN10 Health Risk Pathogenic CAPN10-related disorder, CAPN10-related disorder
RS2536299835 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
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