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
RS2472724372 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472724534 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472724557 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472724789 SETD5 Health Risk Pathogenic See cases, See cases
RS2472724948 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472725001 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472725122 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472725187 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472725534 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472732399 GYG1 Health Risk Pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS2472735253 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2472735627 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2472735687 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2472740882 STAG1 Health Risk Likely pathogenic STAG1-related disorder, STAG1-related disorder
RS2472761454 CP Health Risk Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2472761631 CLRN1 Health Risk Pathogenic —
RS2472761635 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Neuronal ceroid lipofuscinosis
RS2472761786 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472761795 CLRN1 Health Risk Likely pathogenic —
RS2472761806 CLRN1 Health Risk Pathogenic —
RS2472762265 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2472773829 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2472785351 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472785645 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472786163 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472786418 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472786530 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472786583 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472794733 ADCY5 Health Risk Conflicting classifications of pathogenicity Morphological central nervous system abnormality, Morphological central nervous system abnormality
RS2472800703 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472800726 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472800910 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472801078 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472801382 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472801424 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472801442 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472801605 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472802944 ILDR1 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2472804506 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472804530 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472804606 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472804843 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472821036 ILDR1 Health Risk Pathogenic —
RS2472824323 SETD5 Health Risk Pathogenic —
RS2472827678 ILDR1 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2472828764 SETD5 Health Risk Pathogenic —
RS2472830632 CLRN1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2472830767 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472830828 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472830838 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Neuronal ceroid lipofuscinosis
RS2472831148 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472831238 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472831271 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472831316 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472831349 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472831512 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS2472832047 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472840199 CP Health Risk Likely pathogenic CP-related disorder, CP-related disorder
RS2472840538 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2472844885 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS2472852631 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472854593 MRPS22 Health Risk Likely pathogenic Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS2472859554 MRPS22 Health Risk Likely pathogenic —
RS2472863379 ADCY5 Health Risk Pathogenic —
RS2472872923 ADCY5 Health Risk Likely pathogenic —
RS2472878404 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2472899515 COPB2 Health Risk Likely pathogenic Osteoporosis, childhood- or juvenile-onset
RS2472905437 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2472919181 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472919277 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472919343 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472919464 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472920509 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2472920836 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Monocytopenia with susceptibility to infections
RS2472920937 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472920958 GATA2 Health Risk Likely pathogenic Myelodysplastic syndrome, Myelodysplastic syndrome
RS2472921118 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472921144 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Monocytopenia with susceptibility to infections
RS2472925192 GATA2 Health Risk Likely pathogenic —
RS2472929677 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472929919 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472929964 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472930152 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Monocytopenia with susceptibility to infections
RS2472930176 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2472930436 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2472930871 GATA2 Health Risk Likely pathogenic —
RS2472931166 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2472931721 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472932040 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472932149 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2472932712 SETD5 Health Risk Pathogenic —
RS2472934198 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2472934556 SETD5 Health Risk Pathogenic —
RS2472934740 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2472935134 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Monocytopenia with susceptibility to infections
RS2472936713 SETD5 Health Risk Pathogenic —
RS2472937712 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472939479 UGT1A1 Health Risk Pathogenic —
RS2472941300 SETD5 Health Risk Pathogenic —
RS2472944256 SETD5 Health Risk Conflicting classifications of pathogenicity SETD5-related disorder, SETD5-related disorder
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