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
RS2513336377 KMT2B Health Risk Likely pathogenic —
RS2513337093 KMT2B Health Risk Pathogenic —
RS2513337260 KMT2B Health Risk Likely pathogenic —
RS2513338680 KMT2B Health Risk Pathogenic —
RS2513339653 TDRD12 Health Risk Likely pathogenic Male infertility, Male infertility
RS2513342452 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2513344634 KMT2B Health Risk Likely pathogenic —
RS2513344818 KMT2B Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 68
RS2513344824 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2513344926 KMT2B Health Risk Likely pathogenic KMT2B-related disorder, KMT2B-related disorder
RS2513344954 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2513345836 KMT2B Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 68
RS2513346049 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2513346396 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2513348956 DNM2 Health Risk Likely pathogenic Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS2513349459 KMT2B Health Risk Pathogenic —
RS2513350024 KMT2B Health Risk Pathogenic —
RS2513350390 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2513352916 KMT2B Health Risk Likely pathogenic —
RS2513355378 KMT2B Health Risk Pathogenic —
RS2513356252 KMT2B Health Risk Pathogenic —
RS2513357403 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2513365069 KMT2B Health Risk Pathogenic —
RS2513365471 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS2513366517 KMT2B Health Risk Pathogenic —
RS2513366562 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2513370231 KMT2B Health Risk Likely pathogenic See cases, See cases
RS2513370236 KMT2B Health Risk Pathogenic —
RS2513370317 KMT2B Health Risk Likely pathogenic —
RS2513375040 PEPD Health Risk Pathogenic —
RS2513375048 PEPD Health Risk Pathogenic —
RS2513380433 PEPD Health Risk Pathogenic —
RS2513380450 PEPD Health Risk Pathogenic —
RS2513380789 PEPD Health Risk Likely pathogenic —
RS2513384226 TGFB1 Health Risk Likely pathogenic Inflammatory bowel disease, immunodeficiency
RS2513391100 CRLF1 Health Risk Likely pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS2513391263 ZNF699 Health Risk Pathogenic DEGCAGS syndrome, DEGCAGS syndrome
RS2513391862 ZNF699 Health Risk Likely pathogenic ZNF699-related disorder, ZNF699-related disorder
RS2513392622 WDR62 Health Risk Pathogenic —
RS2513393044 WDR62 Health Risk Likely pathogenic Autosomal recessive primary microcephaly, Microcephaly 2
RS2513396318 PEPD Health Risk Pathogenic —
RS2513396675 PEPD Health Risk Pathogenic —
RS2513397063 ZNF699 Health Risk Pathogenic DEGCAGS syndrome, DEGCAGS syndrome
RS2513397377 CRLF1 Health Risk Likely pathogenic Cold-induced sweating syndrome, Cold-induced sweating syndrome
RS2513397402 CRLF1 Health Risk Likely pathogenic Cold-induced sweating syndrome, Cold-induced sweating syndrome
RS2513398193 B9D2 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2513408240 B9D2 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2513410026 PEPD Health Risk Likely pathogenic PEPD-related disorder, PEPD-related disorder
RS2513410277 PEPD Health Risk Likely pathogenic —
RS2513412559 PEPD Health Risk Pathogenic —
RS2513442799 WDR62 Health Risk Pathogenic —
RS2513443720 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513443827 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513443854 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513443919 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2513452038 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2513452044 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2513452055 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513452174 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513452327 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513452355 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513452367 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513452452 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513454220 WDR62 Health Risk Pathogenic —
RS2513454323 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513454343 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513454359 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513454376 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513454434 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513454904 WDR62 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2513457448 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2513457503 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513459631 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513459641 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513459717 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513459729 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513459825 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513459912 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513460449 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513460454 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS2513460533 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513460625 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513460977 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2513461024 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2513461198 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2513461217 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513462216 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513462321 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513462327 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513462341 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2513465496 PEPD Health Risk Pathogenic —
RS2513477443 TCF3 Health Risk Pathogenic —
RS2513481945 TDRD12 Health Risk Likely pathogenic Male infertility, Male infertility
RS2513492203 TCF3 Health Risk Pathogenic —
RS2513492691 TCF3 Health Risk Pathogenic —
RS2513493190 PEPD Health Risk Likely pathogenic —
RS2513496574 PEPD Health Risk Likely pathogenic —
RS2513503626 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513503660 CACNA1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2513503702 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
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