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
RS1554504678 RHOBTB2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1554504681 RHOBTB2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Developmental and epileptic encephalopathy
RS1554504684 RHOBTB2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 64
RS1554505381 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, KMT2C-related NDD
RS1554508985 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS1554510884 DDHD2 Health Risk Pathogenic —
RS1554511216 DDHD2 Health Risk Likely pathogenic —
RS1554512658 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554512816 KRIT1 Health Risk Likely pathogenic —
RS1554513061 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554513070 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554513911 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554514380 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, KRIT1-related disorder
RS1554514507 CHRNA2 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS1554515767 DDHD2 Health Risk Likely pathogenic —
RS1554517327 ERLIN2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia 18a
RS1554517382 ERLIN2 Health Risk Likely pathogenic Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
RS1554517725 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS1554518369 KRIT1 Health Risk Likely pathogenic —
RS1554518386 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554518541 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554518750 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554518783 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554518790 KRIT1 Health Risk Likely pathogenic Cavernous hemangioma, Cavernous hemangioma
RS1554519254 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554519422 RP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1554519449 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1554519459 RP1 Health Risk Pathogenic —
RS1554519462 ADAM22 Health Risk Pathogenic Developmental and epileptic encephalopathy, 61
RS1554519518 RP1 Health Risk Pathogenic —
RS1554519533 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554519538 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554519546 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554519554 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 1
RS1554519555 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1554519577 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554519635 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1554519651 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1554519662 RP1 Health Risk Pathogenic —
RS1554519798 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1554519822 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 1
RS1554520068 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554520924 SLC39A14 Health Risk Pathogenic Hyperostosis cranialis interna, Hyperostosis cranialis interna
RS1554522035 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1554523224 TPK1 Health Risk Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS1554523526 TTPA Health Risk Pathogenic —
RS1554523565 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS1554524061 TTPA Health Risk Pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1554524697 CYP7B1 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1554525125 TTPA Health Risk Pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1554525128 TTPA Health Risk Pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1554526454 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554526666 KMT2C Health Risk Likely pathogenic —
RS1554526707 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554527032 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527169 KRIT1 Health Risk Pathogenic Cavernous hemangioma, Cerebral cavernous malformation
RS1554527775 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554527779 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527817 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527919 KRIT1 Health Risk Likely pathogenic —
RS1554527922 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527925 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554528411 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554528541 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554528662 KRIT1 Health Risk Pathogenic —
RS1554529341 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554530901 WRN Health Risk Pathogenic —
RS1554531744 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554532283 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554533006 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1554533211 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554537586 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554537612 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554537613 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554537807 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554537841 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1554537963 BPNT2 Health Risk Likely pathogenic —
RS1554539120 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554541834 EYA1 Health Risk Pathogenic/Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1554542073 EYA1 Health Risk Pathogenic —
RS1554543126 ANK1 Health Risk Likely pathogenic —
RS1554544827 SYNE1 Health Risk Pathogenic —
RS1554544862 ANK1 Health Risk Pathogenic —
RS1554545462 ATP6V1B2 Health Risk Likely pathogenic —
RS1554546372 SLC20A2 Health Risk Likely pathogenic —
RS1554546830 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1554547400 FGFR1 Health Risk Pathogenic —
RS1554547986 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS1554548102 FGFR1 Health Risk Likely pathogenic —
RS1554548253 FGFR1 Health Risk Pathogenic Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS1554548334 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1554548434 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1554548840 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1554549291 FKBP6 Health Risk Pathogenic Spermatogenic failure 77, Male infertility
RS1554549628 FGFR1 Health Risk Pathogenic —
RS1554550339 SYNE1 Health Risk Pathogenic —
RS1554550637 EYA1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS1554551657 FGFR1 Health Risk Pathogenic/Likely pathogenic Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS1554551667 FGFR1 Health Risk Pathogenic Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS1554551706 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
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