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
RS2046937845 NOTCH3 Health Risk Pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS2046947920 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2046948026 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2046950183 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2046952880 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2046996113 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS2046997344 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS2047000316 ABCC6 Health Risk Likely pathogenic Arterial calcification, generalized
RS2047006361 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047007301 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS2047007480 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2047011004 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2047013877 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2047014823 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047017160 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2047052213 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2047058557 LOC126806423;TTN;TTN-AS1 Health Risk Likely pathogenic —
RS2047085522 LOC126806423;TTN;TTN-AS1 Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2047088558 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2047092163 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047092959 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS2047096127 TCF4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2047099006 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047103931 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2047106597 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2047107163 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2047109965 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2047119736 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Inborn genetic diseases
RS2047122054 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2047122813 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, FLCN-related disorder
RS2047123162 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047128609 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2047135088 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2047172274 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047175695 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047176639 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2047177327 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS2047178513 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047181267 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2047236705 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047242821 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2047248214 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047264129 TANGO2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2047280731 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047298129 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2047299277 OFD1 Health Risk Pathogenic Joubert syndrome 10, Joubert syndrome 10
RS2047302808 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2047310284 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2047316806 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS2047317144 C5 Health Risk Pathogenic —
RS2047318775 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2047328405 SLC4A1 Health Risk Pathogenic/Likely pathogenic 11 conditions, Autosomal dominant distal renal tubular acidosis
RS2047337144 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2047357659 SLC4A1 Health Risk Likely pathogenic —
RS2047358814 SLC4A1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant distal renal tubular acidosis, Renal tubular acidosis
RS2047371081 SLC4A1 Health Risk Pathogenic —
RS2047380262 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2047381754 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047398183 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS2047400320 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2047400808 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2047401561 SLC4A1 Health Risk Pathogenic —
RS2047401850 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Autosomal dominant distal renal tubular acidosis
RS2047402332 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS2047402577 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2047407019 SLC4A1 Health Risk Conflicting classifications of pathogenicity Cryohydrocytosis, Cryohydrocytosis
RS2047417339 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047420220 SLC4A1 Health Risk Pathogenic —
RS2047426908 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047435382 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2047444948 SLC4A1 Health Risk Likely pathogenic —
RS2047467477 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047469522 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2047487518 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047490848 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047492649 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047492720 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047513887 ABCC6 Health Risk Likely pathogenic —
RS2047514376 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047516641 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047523428 BRD4 Health Risk Likely pathogenic Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6
RS2047525622 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2047560187 BRD4 Health Risk Pathogenic —
RS2047653801 CFAP410 Health Risk Pathogenic —
RS2047658370 CFAP410 Health Risk Pathogenic —
RS2047659273 FGF14 Health Risk Pathogenic Cerebellar ataxia, Spinocerebellar ataxia 27B
RS2047665750 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS2047676193 ABCC6 Health Risk Likely pathogenic —
RS2047686121 CFAP410 Health Risk Pathogenic —
RS2047687010 CFAP410 Health Risk Pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS2047717398 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2047724604 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2047742790 ABCC6 Health Risk Pathogenic —
RS2047743679 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9
RS2047747647 OFD1 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 2, Simpson-Golabi-Behmel syndrome type 2
RS2047765952 OFD1 Health Risk Likely pathogenic —
RS2047770566 FKBP10 Health Risk Pathogenic —
RS2047770974 FKBP10 Health Risk Pathogenic —
RS2047780556 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS2047794498 KIF3B Health Risk Pathogenic Retinitis pigmentosa 89, Retinitis pigmentosa 89
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