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
RS2500221145 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500222599 SETD1B Health Risk Likely pathogenic SETD1B-related disorder, SETD1B-related disorder
RS2500228774 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2500231765 SETD1B Health Risk Pathogenic —
RS2500232999 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500233324 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500234504 CEP290 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2500234801 CEP290 Health Risk Likely pathogenic —
RS2500238557 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500238632 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500244532 SETD1B Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500249122 GJB2 Health Risk Likely pathogenic —
RS2500249364 GJB2 Health Risk Likely pathogenic —
RS2500249538 GJB2 Health Risk Pathogenic —
RS2500249666 GJB2 Health Risk Likely pathogenic —
RS2500250149 GJB2 Health Risk Pathogenic —
RS2500250227 GJB2 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2500250786 GJB2 Health Risk Pathogenic —
RS2500250876 GJB2 Health Risk Pathogenic —
RS2500251103 GJB2 Health Risk Pathogenic —
RS2500251590 GJB2 Health Risk Likely pathogenic —
RS2500251718 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500251771 GJB2 Health Risk Likely pathogenic —
RS2500251812 GJB2 Health Risk Likely pathogenic —
RS2500252186 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS2500252222 GJB2 Health Risk Likely pathogenic —
RS2500252236 GJB2 Health Risk Likely pathogenic —
RS2500252391 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500252635 GJB2 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS2500252673 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2500252717 GJB2 Health Risk Pathogenic —
RS2500253112 GJB2 Health Risk Likely pathogenic —
RS2500253148 GJB2 Health Risk Likely pathogenic —
RS2500253573 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500253846 GJB2 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2500255754 CDX2 Health Risk Conflicting classifications of pathogenicity Anorectal malformation, Anorectal malformation
RS2500260535 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500260789 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500269301 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500270196 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500271417 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500281214 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2500289881 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS2500289988 HPD Health Risk Likely pathogenic Tyrosinemia type III, Tyrosinemia type III
RS2500298619 HPD Health Risk Pathogenic Tyrosinemia type III, Hawkinsinuria
RS2500298650 HPD Health Risk Likely pathogenic Tyrosinemia type III, Tyrosinemia type III
RS2500323693 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS2500327296 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS2500327527 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS2500327565 HPD Health Risk Pathogenic Tyrosinemia type III, Hawkinsinuria
RS2500329137 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS2500329430 HPD Health Risk Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS2500331848 HPD Health Risk Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS2500345300 GRIP1 Health Risk Likely pathogenic —
RS2500377103 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500383363 MED13L Health Risk Likely pathogenic —
RS2500383513 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2500405629 KIF21A Health Risk Pathogenic Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1
RS2500443426 RFXAP Health Risk Pathogenic MHC class II deficiency 4, MHC class II deficiency 4
RS2500443582 RFXAP Health Risk Pathogenic MHC class II deficiency 4, MHC class II deficiency 4
RS2500443932 RFXAP Health Risk Pathogenic MHC class II deficiency 4, MHC class II deficiency 4
RS2500460578 HMGB1 Health Risk Pathogenic Brachyphalangy, polydactyly
RS2500460631 HMGB1 Health Risk Pathogenic Brachyphalangy, polydactyly
RS2500473984 HMGB1 Health Risk Likely pathogenic HMGB1-associated disorder, HMGB1-associated disorder
RS2500474235 POLR1D Health Risk Likely pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS2500474424 POLR1D Health Risk Likely pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS2500474635 POLR1D Health Risk Likely pathogenic POLR1D-related disorder, POLR1D-related disorder
RS2500475304 POLR1D Health Risk Likely pathogenic POLR1D-related disorder, POLR1D-related disorder
RS2500477515 RXYLT1 Health Risk Pathogenic —
RS2500486509 RXYLT1 Health Risk Likely pathogenic —
RS2500486724 RXYLT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2500513293 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS2500519378 RXYLT1 Health Risk Pathogenic —
RS2500519498 RXYLT1 Health Risk Pathogenic —
RS2500519629 RXYLT1 Health Risk Pathogenic —
RS2500519942 RXYLT1 Health Risk Pathogenic —
RS2500520221 RXYLT1 Health Risk Pathogenic —
RS2500522460 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500523689 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2500524015 CEP290 Health Risk Pathogenic/Likely pathogenic Rod-cone dystrophy, Joubert syndrome
RS2500524682 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2500524863 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS2500525027 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2500525030 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2500526185 RXYLT1 Health Risk Likely pathogenic —
RS2500533173 RXYLT1 Health Risk Pathogenic —
RS2500533538 RXYLT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2500579479 RXFP2 Health Risk Likely pathogenic Bilateral cryptorchidism, Bilateral cryptorchidism
RS2500590568 RXFP2 Health Risk Pathogenic Bilateral cryptorchidism, Bilateral cryptorchidism
RS2500598731 COG6 Health Risk Likely pathogenic —
RS2500612408 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500613030 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500613493 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS2500615773 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500616179 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500618622 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500619029 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500620311 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2500627262 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2500627365 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
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