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
RS2150558601 COL11A2 Health Risk Pathogenic —
RS2150561563 MPLKIP Health Risk Pathogenic Trichothiodystrophy 4, nonphotosensitive
RS2150562439 FGFR1 Health Risk Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150563078 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150563125 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150563288 ANK1 Health Risk Likely pathogenic —
RS2150563560 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150565478 COL11A2 Health Risk Conflicting classifications of pathogenicity Monogenic hearing loss, Monogenic hearing loss
RS2150565807 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150568816 COL11A2 Health Risk Likely pathogenic —
RS2150570235 VARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS2150570748 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150572816 COL11A2 Health Risk Pathogenic —
RS2150575155 LTBP1 Health Risk Likely pathogenic Cutis laxa, autosomal recessive
RS2150577320 COL11A2 Health Risk Pathogenic Fibrochondrogenesis 2, Fibrochondrogenesis 2
RS2150577671 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150577964 CHD7 Health Risk Likely pathogenic —
RS2150578004 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150578588 CHD7 Health Risk Likely pathogenic —
RS2150578792 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150578812 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150578971 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS2150579361 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150579872 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150580244 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150580336 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150580758 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150581008 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150581463 CHD7 Health Risk Pathogenic —
RS2150581545 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150581560 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150582700 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150585752 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150586181 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150586919 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150589472 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150589601 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150590331 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150591547 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150592257 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150593157 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150593275 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150593284 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150593448 ANK1 Health Risk Likely pathogenic —
RS2150593517 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, ANK1-related disorder
RS2150594383 HEATR3 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21
RS2150594434 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150594539 ANK1 Health Risk Pathogenic —
RS2150594688 ANK1 Health Risk Likely pathogenic —
RS2150594692 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150595484 COL4A4 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal recessive Alport syndrome
RS2150595867 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS2150596703 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150596718 ANK1 Health Risk Pathogenic —
RS2150596830 COL4A4 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Autosomal recessive Alport syndrome
RS2150597061 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150597099 COL4A4 Health Risk Likely pathogenic —
RS2150597126 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150600578 HEATR3 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21
RS2150602525 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150605957 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150605978 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150610519 HEATR3 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 21
RS2150612966 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150612978 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150612992 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150613009 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150615820 COL4A4 Health Risk Pathogenic —
RS2150616126 COL4A4 Health Risk Pathogenic —
RS2150616471 ANK1 Health Risk Likely pathogenic —
RS2150616506 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150621077 COL11A2 Health Risk Likely pathogenic —
RS2150621717 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150622028 ANK1 Health Risk Likely pathogenic —
RS2150623353 TCOF1 Health Risk Pathogenic Treacher Collins syndrome, Treacher Collins syndrome 1
RS2150623550 TCOF1 Health Risk Pathogenic —
RS2150623900 COL11A2 Health Risk Likely pathogenic —
RS2150630821 ZMYND15 Health Risk Pathogenic Spermatogenic failure 14, Spermatogenic failure 14
RS2150631395 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150631832 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150635175 ANK1 Health Risk Pathogenic —
RS2150635459 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150635518 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150635565 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150641017 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150641057 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150644706 ANK1 Health Risk Likely pathogenic —
RS2150647514 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150647744 FGFR1 Health Risk Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS2150651762 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150652933 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150653010 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150653422 PPIL1 Health Risk Likely pathogenic Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
RS2150653427 PPIL1 Health Risk Likely pathogenic Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
RS2150653717 PPIL1 Health Risk Likely pathogenic Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
RS2150655456 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150661792 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150661824 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150661848 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150663206 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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