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
RS2512133290 KDM4B Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 65
RS2512147217 KDM4B Health Risk Conflicting classifications of pathogenicity —
RS2512151147 KDM4B Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 65
RS2512164434 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS2512164486 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Neutropenia
RS2512164490 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS2512164539 ELANE Health Risk Likely pathogenic —
RS2512164548 ELANE Health Risk Likely pathogenic Neutropenia, severe congenital
RS2512164614 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS2512165572 ELANE Health Risk Likely pathogenic Neutropenia, severe congenital
RS2512166678 KDM4B Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 65
RS2512167144 GPR179 Health Risk Likely pathogenic —
RS2512168136 ELANE Health Risk Likely pathogenic Decreased total neutrophil count, Decreased total neutrophil count
RS2512168309 ELANE Health Risk Likely pathogenic —
RS2512168318 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Cyclical neutropenia
RS2512168552 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS2512168653 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Neutropenia
RS2512168691 ELANE Health Risk Likely pathogenic Neutropenia, severe congenital
RS2512169227 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS2512169267 GPR179 Health Risk Pathogenic —
RS2512169449 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Cyclical neutropenia
RS2512170410 GPR179 Health Risk Pathogenic —
RS2512175710 GPR179 Health Risk Pathogenic —
RS2512176050 GPR179 Health Risk Pathogenic —
RS2512176243 GPR179 Health Risk Pathogenic —
RS2512176863 GPR179 Health Risk Pathogenic —
RS2512177578 CFD Health Risk Likely pathogenic —
RS2512178559 TCF4 Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2512178640 TCF4 Health Risk Pathogenic —
RS2512178673 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2512178695 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512179036 TCF4 Health Risk Pathogenic —
RS2512182702 SEMA6B Health Risk Pathogenic —
RS2512182790 SEMA6B Health Risk Pathogenic —
RS2512182831 SEMA6B Health Risk Pathogenic Epilepsy, progressive myoclonic
RS2512182865 SEMA6B Health Risk Pathogenic/Likely pathogenic —
RS2512183344 SEMA6B Health Risk Likely pathogenic Epilepsy, progressive myoclonic
RS2512184365 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512205352 NDUFS7 Health Risk Pathogenic —
RS2512206013 NDUFS7 Health Risk Likely pathogenic —
RS2512210872 NDUFS7 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS2512219546 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2512221367 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2512221397 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512221442 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512223966 C3 Health Risk Likely pathogenic —
RS2512224098 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512224264 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2512224441 GAMT Health Risk Pathogenic/Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS2512224776 GAMT Health Risk Pathogenic/Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS2512224786 GAMT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512224917 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512225602 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS2512226322 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512226967 TCF4 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS2512228786 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512228836 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2512228920 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512229031 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2512229116 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2512229150 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512229186 GAMT Health Risk Pathogenic/Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS2512229196 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512229344 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2512233215 C3 Health Risk Likely pathogenic —
RS2512233517 C3 Health Risk Likely pathogenic Complement component 3 deficiency, Complement component 3 deficiency
RS2512236070 C3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2512247702 C3 Health Risk Pathogenic —
RS2512251370 TCF4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512254213 C3 Health Risk Conflicting classifications of pathogenicity —
RS2512257929 C3 Health Risk Pathogenic —
RS2512260688 C3 Health Risk Pathogenic —
RS2512262130 C3 Health Risk Pathogenic —
RS2512262623 C3 Health Risk Pathogenic —
RS2512263954 C3 Health Risk Pathogenic —
RS2512264048 C3 Health Risk Pathogenic —
RS2512264297 C3 Health Risk Pathogenic —
RS2512267009 C3 Health Risk Likely pathogenic —
RS2512270762 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2512273417 ARHGEF18 Health Risk Pathogenic —
RS2512275935 ZBTB7A Health Risk Likely pathogenic —
RS2512277057 FZR1 Health Risk Pathogenic Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109
RS2512277062 FZR1 Health Risk Pathogenic Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109
RS2512282556 KISS1R Health Risk Likely pathogenic —
RS2512284473 KISS1R Health Risk Pathogenic Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia
RS2512285101 INSR Health Risk Pathogenic —
RS2512293384 FZR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512294848 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2512296129 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2512310700 ATP5F1A Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Inborn genetic diseases
RS2512317329 RAX2 Health Risk Pathogenic Cone-rod dystrophy 11, Cone-rod dystrophy 11
RS2512318480 RAX2 Health Risk Pathogenic —
RS2512328575 ARHGEF18 Health Risk Pathogenic —
RS2512328838 ARHGEF18 Health Risk Pathogenic —
RS2512343670 CREB3L3 Health Risk Pathogenic —
RS2512344317 DPP9 Health Risk Pathogenic Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome
RS2512353998 ABCA7 Health Risk Likely pathogenic ABCA7-related disorder, ABCA7-related disorder
RS2512358919 ARHGEF18 Health Risk Pathogenic —
RS2512363368 INSR Health Risk Likely pathogenic Leprechaunism syndrome, Gastric cancer
RS2512386644 LONP1 Health Risk Likely pathogenic —
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