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
RS1554826746 NOTCH1 Health Risk Pathogenic Inborn genetic diseases, Aortic valve disease 1
RS1554827120 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS1554827136 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1554827159 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1554827166 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1554827672 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
RS1554828322 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1554829003 KCNMA1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Liang-Wang syndrome
RS1554829141 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1554829311 IL2RA Health Risk Pathogenic —
RS1554829390 COL27A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554829415 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1554829441 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1554829555 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1554829561 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1554829575 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS1554830220 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1554830249 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1554830789 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1554833178 MYO3A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1554833186 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1554833227 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554833242 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554833249 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1554833314 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554833699 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554834161 PDZD7 Health Risk Pathogenic Hearing loss, autosomal recessive 57
RS1554834186 PDZD7 Health Risk Pathogenic Hearing loss, autosomal recessive 57
RS1554834303 FGF8 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
RS1554834321 FGF8 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly sequence, Holoprosencephaly sequence
RS1554834889 FGF8 Health Risk Likely pathogenic Holoprosencephaly sequence, Holoprosencephaly sequence
RS1554834892 FGF8 Health Risk Likely pathogenic Holoprosencephaly sequence, Holoprosencephaly sequence
RS1554835103 PDZD7 Health Risk Pathogenic Hearing loss, autosomal recessive 57
RS1554835827 PDZD7 Health Risk Likely pathogenic Hearing loss, autosomal recessive 57
RS1554835864 KAT6B Health Risk Likely pathogenic —
RS1554836566 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554837576 ACBD5 Health Risk Likely pathogenic —
RS1554837782 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS1554838298 POLR3A Health Risk Likely pathogenic —
RS1554840677 MAT1A Health Risk Pathogenic/Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1554840869 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS1554841212 MAT1A Health Risk Likely pathogenic —
RS1554841447 SUFU Health Risk Likely pathogenic Medulloblastoma, Gorlin syndrome
RS1554841751 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1554841843 ACTA2 Health Risk Likely pathogenic —
RS1554841990 ACTA2 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 6
RS1554841994 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
RS1554842611 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1554842673 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS1554842805 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1554842855 FANCC Health Risk Likely pathogenic —
RS1554843251 NDUFB8 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 32
RS1554843434 NDUFB8 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 32
RS1554843535 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1554843814 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554843815 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1554843829 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1554843880 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1554843942 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554843977 KAT6B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1554844486 KAT6B Health Risk Likely pathogenic 10 conditions, 10 conditions
RS1554845439 KAT6B Health Risk Pathogenic —
RS1554845598 KAT6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554845810 KAT6B Health Risk Pathogenic KAT6B-Related Spectrum Disorders, KAT6B-Related Spectrum Disorders
RS1554845880 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1554845888 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS1554845902 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1554845914 KAT6B Health Risk Pathogenic —
RS1554846052 EHMT1 Health Risk Pathogenic —
RS1554846212 KAT6B Health Risk Conflicting classifications of pathogenicity 9 conditions, 9 conditions
RS1554846300 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1554846499 KAT6B Health Risk Likely pathogenic —
RS1554846766 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554847009 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS1554847229 DGAT1 Health Risk Likely pathogenic —
RS1554847269 DGAT1 Health Risk Pathogenic/Likely pathogenic DGAT1-related disorder, Congenital diarrhea 7 with exudative enteropathy
RS1554847435 DGAT1 Health Risk Pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS1554847482 DGAT1 Health Risk Likely pathogenic —
RS1554847618 DGAT1 Health Risk Likely pathogenic —
RS1554847822 COL17A1 Health Risk Likely pathogenic —
RS1554848576 COL17A1 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Epithelial recurrent erosion dystrophy
RS1554849000 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1554849100 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1554849133 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1554849397 ABCC2 Health Risk Pathogenic —
RS1554849445 COL17A1 Health Risk Pathogenic —
RS1554850239 COL17A1 Health Risk Pathogenic —
RS1554850241 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS1554851356 FAS Health Risk Pathogenic —
RS1554851699 ABCC2 Health Risk Pathogenic —
RS1554851718 FAS Health Risk Likely pathogenic Splenomegaly, Autoimmune lymphoproliferative syndrome type 1
RS1554852090 FAS Health Risk Likely pathogenic —
RS1554852244 FAS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554852272 SUFU Health Risk Pathogenic Joubert syndrome 32, Joubert syndrome 32
RS1554852279 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS1554852472 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554852597 EHMT1 Health Risk Pathogenic —
RS1554852648 EHMT1 Health Risk Pathogenic —
RS1554852664 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554852773 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
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