SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS797045962 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS797045963 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS797045965 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS797045966 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS797045969 SLC25A22 Health Risk Pathogenic Early myoclonic encephalopathy, Early-infantile DEE
RS797045970 SLC45A2 Health Risk Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS797045972 SLC6A8 Health Risk Pathogenic —
RS797045974 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS797045976 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS797045980 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS797045981 SMARCA4 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 16
RS797045982 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS797045983 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS797045984 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS797045987 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS797045988 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS797045989 SMARCB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 15
RS797045990 SMARCE1 Health Risk Pathogenic Familial meningioma, Coffin-Siris syndrome 5
RS797045991 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS797045992 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS797045993 MIR6857;SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, SMC1A-related disorder
RS797045996 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS797045997 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS797046003 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Mitochondrial disease
RS797046004 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS797046005 SPTBN2 Health Risk Likely pathogenic —
RS797046006 SPTBN2 Health Risk Likely pathogenic Cerebellar ataxia, Cerebellar ataxia
RS797046008 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS797046013 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS797046015 STAMBP Health Risk Likely pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS797046017 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS797046023 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS797046024 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS797046025 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS797046026 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS797046028 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS797046029 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS797046030 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS797046031 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS797046032 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS797046033 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS797046034 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS797046035 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS797046036 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS797046037 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS797046038 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS797046039 TCTN1 Health Risk Pathogenic Joubert syndrome 13, Joubert syndrome 13
RS797046040 TCTN2 Health Risk Pathogenic Meckel syndrome, type 8
RS797046041 TERT Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS797046042 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS797046045 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Joubert syndrome
RS797046046 TNNI2 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS797046047 TPM3 Health Risk Likely pathogenic Myopathy, Myopathy
RS797046051 TSEN2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS797046052 TSEN2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS797046054 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 2A
RS797046055 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 2A
RS797046056 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS797046057 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 2A
RS797046059 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS797046060 TTN Health Risk Pathogenic Myopathy, Myopathy
RS797046064 TTN Health Risk Pathogenic/Likely pathogenic Myopathy, Cardiomyopathy
RS797046068 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS797046071 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS797046072 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS797046073 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS797046074 TUBB2A Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 5, TUBB2A-related tubulinopathy
RS797046075 TUBB2B Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS797046081 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS797046082 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS797046083 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS797046084 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS797046085 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS797046086 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS797046087 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS797046088 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS797046090 UGT1A1 Health Risk Pathogenic Hyperbilirubinemia, UGT1A1-related disorder
RS797046091 UGT1A1 Health Risk Pathogenic Hyperbilirubinemia, Crigler-Najjar syndrome type 1
RS797046092 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS797046093 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS797046094 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS797046097 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS797046098 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS797046099 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS797046100 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS797046101 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, X-linked cerebral-cerebellar-coloboma syndrome syndrome
RS797046102 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS797046103 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS797046105 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS797046109 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS797046111 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS797046112 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome, Wolfram syndrome
RS797046113 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome, Wolfram syndrome 1
RS797046117 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS797046118 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS797046119 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS797046120 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS797046121 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS797046122 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS797046124 ZNF335 Health Risk Likely pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
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