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
RS1595446167 RALGAPA1 Health Risk Pathogenic Feeding difficulties, Neurodevelopmental disorder with hypotonia
RS1595447577 DICER1 Health Risk Likely pathogenic Euthyroid goiter, DICER1-related tumor predisposition
RS1595447611 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595447658 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595448006 DICER1 Health Risk Likely pathogenic —
RS1595448161 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595448248 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595450125 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
RS1595450393 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
RS1595456594 DICER1 Health Risk Likely pathogenic —
RS1595456687 DICER1 Health Risk Likely pathogenic —
RS1595457134 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595458724 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595459155 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Ovarian cancer
RS1595460164 PPP2R5C Health Risk Conflicting classifications of pathogenicity Intellectual disability, Houge-Janssens syndrome 4
RS1595462667 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595465765 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595465990 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1595466068 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595466234 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595468557 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595472739 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
RS1595472741 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS1595472756 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
RS1595472764 CDC42BPB Health Risk Pathogenic/Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related disorder
RS1595476797 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS1595482918 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
RS1595496969 TUBGCP4 Health Risk Pathogenic Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
RS1595503440 CDIN1 Health Risk Likely pathogenic Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B
RS1595518738 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1595525363 PPP2R5C Health Risk Conflicting classifications of pathogenicity Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS1595527456 DUOX2 Health Risk Pathogenic —
RS1595529163 DUOX2 Health Risk Pathogenic/Likely pathogenic —
RS1595533765 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1595539403 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595540088 BUB1B;BUB1B-PAK6;PAK6 Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1595541066 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595552181 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1595560288 BLOC1S6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS1595572384 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS1595576646 FMN1 Health Risk Conflicting classifications of pathogenicity FMN1-related disorder, FMN1-related disorder
RS1595591164 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS1595597572 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1595597963 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1595599240 DYNC1H1 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1595600383 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595600898 DYNC1H1 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1595600991 DYNC1H1 Health Risk Likely pathogenic —
RS1595601645 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease
RS1595601899 UBE3A Health Risk Pathogenic —
RS1595605449 DYNC1H1 Health Risk Likely pathogenic Lower limb muscle weakness, Lower limb muscle weakness
RS1595608413 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1595609005 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1595615134 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595619553 ATL1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1595620366 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595621292 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595621310 ATL1 Health Risk Likely pathogenic —
RS1595621335 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595625010 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595625099 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia
RS1595625104 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595625113 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1595625206 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia
RS1595629181 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1595630836 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Lissencephaly
RS1595633027 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS1595660890 OCA2 Health Risk Pathogenic OCA2-related disorder, SKIN/HAIR/EYE PIGMENTATION 1
RS1595665808 CYP19A1 Health Risk Pathogenic —
RS1595671510 CYP19A1 Health Risk Pathogenic —
RS1595676477 VRK1 Health Risk Conflicting classifications of pathogenicity Microcephaly-complex motor and sensory axonal neuropathy syndrome, EMG: neuropathic changes
RS1595676517 VRK1 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy associated with upper motor neuron signs, Distal spinal muscular atrophy
RS1595676731 TCF12 Health Risk Likely pathogenic —
RS1595693254 RAB27A Health Risk Likely pathogenic —
RS1595695268 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1595700039 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1595717218 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1595718024 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS1595733611 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1595746804 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1595746834 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1595746858 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Legius syndrome
RS1595756416 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1595756640 SMAD6 Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis, Aortic valve disease 2
RS1595756703 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1595756946 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS1595756962 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1595757203 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1595757271 SMAD6 Health Risk Uncertain significance; risk factor Radioulnar synostosis, nonsyndromic
RS1595757398 SMAD6 Health Risk Likely pathogenic —
RS1595760903 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1595761302 ACTC1 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Hypertrophic cardiomyopathy 11
RS1595761333 ACTC1 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Hypertrophic cardiomyopathy 11
RS1595763070 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1595763557 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1595763656 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1595763659 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Legius syndrome
RS1595763662 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Legius syndrome
RS1595763925 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Cardiovascular phenotype
RS1595763928 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
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