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
RS1554945033 WT1 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS1554945232 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS1554946437 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554946460 WT1 Health Risk Pathogenic —
RS1554946480 WT1 Health Risk Pathogenic Nephrotic syndrome, type 4
RS1554946500 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS1554946600 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS1554948134 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1554948192 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554948302 HTRA1 Health Risk Pathogenic/Likely pathogenic —
RS1554948310 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554948318 HTRA1 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1554948445 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554949176 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554949196 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554949242 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554950655 HTRA1 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1554950703 HTRA1 Health Risk Pathogenic CARASIL syndrome, CARASIL syndrome
RS1554952193 EPS8L2 Health Risk Pathogenic Hearing loss, autosomal recessive 106
RS1554952277 HTRA1 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1554952291 HTRA1 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1554952443 EPS8L2 Health Risk Pathogenic Hearing loss, autosomal recessive 106
RS1554952465 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554952467 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554952554 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554953745 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS1554953746 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1554954574 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1554954681 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1554954858 USH1C Health Risk Likely pathogenic —
RS1554955952 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554956023 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554956088 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554958030 KCNQ1 Health Risk Likely pathogenic —
RS1554958043 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1554958045 KCNQ1 Health Risk Likely pathogenic Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation
RS1554958047 KCNQ1 Health Risk Likely pathogenic —
RS1554958049 KCNQ1 Health Risk Pathogenic —
RS1554958092 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1554958132 KCNQ1 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1554960388 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1554960390 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1554961118 NKX6-2 Health Risk Pathogenic/Likely pathogenic Spastic ataxia 8, autosomal recessive
RS1554961152 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS1554961872 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1554962286 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1554963058 BEST1 Health Risk Pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS1554963095 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS1554963305 BEST1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive bestrophinopathy, Retinal dystrophy
RS1554964287 BEST1 Health Risk Pathogenic Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS1554965669 SLC25A22 Health Risk Pathogenic/Likely pathogenic Early myoclonic encephalopathy, Early-infantile DEE
RS1554965967 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1554966197 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1554967141 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1554967176 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1554967541 CSRP3 Health Risk Pathogenic Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS1554967575 COL13A1 Health Risk Pathogenic —
RS1554967681 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1554967761 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1554968138 CSRP3 Health Risk Pathogenic Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS1554968150 CSRP3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1554968726 B3GAT3 Health Risk Pathogenic/Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS1554969688 PHF21A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554969894 SCYL1 Health Risk Likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1554969925 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1554970010 TMEM138 Health Risk Pathogenic Joubert syndrome 16, Joubert syndrome 16
RS1554970375 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1554971069 LRP5 Health Risk Pathogenic —
RS1554971145 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1554971742 LTBP3 Health Risk Pathogenic Geleophysic dysplasia 3, Geleophysic dysplasia 3
RS1554972407 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS1554972547 TMEM216 Health Risk Likely pathogenic Joubert syndrome, Meckel syndrome
RS1554972556 TMEM216 Health Risk Likely pathogenic Meckel syndrome, type 2
RS1554972958 TMEM216 Health Risk Likely pathogenic Meckel syndrome, type 2
RS1554973844 LTBP3 Health Risk Pathogenic; confers sensitivity Brachyolmia-amelogenesis imperfecta syndrome, Heritable Thoracic Aortic Disease
RS1554975332 PNPLA2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neutral lipid storage myopathy
RS1554976234 ANO3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Dystonia 24
RS1554976504 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1554977189 SBF2 Health Risk Pathogenic —
RS1554977547 LRP5 Health Risk Pathogenic —
RS1554981083 FGF3 Health Risk Pathogenic Deafness with labyrinthine aplasia, microtia
RS1554982237 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS1554982243 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1554982299 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1554982537 PAX6 Health Risk Pathogenic Inborn genetic diseases, Aniridia 1
RS1554982609 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1554982615 PAX6 Health Risk Pathogenic —
RS1554982809 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1554982824 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS1554982847 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1554982914 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1554983076 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2
RS1554983140 PAX6 Health Risk Pathogenic —
RS1554983229 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1554983238 PAX6 Health Risk Pathogenic —
RS1554983251 PAX6 Health Risk Pathogenic —
RS1554983571 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1554983577 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1554983586 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Aniridia 1
RS1554983610 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
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