| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Disorder of lung |
Uncertain significance |
rs199753982 |
RCV005861357 |
| Epileptic encephalopathy |
Uncertain significance |
rs1057518652 |
RCV000415430 |
| Hyperoxaluria |
Uncertain significance |
rs370208644, rs73219719, rs2534014668, rs2534015108 |
RCV003228804 RCV003228828 RCV003228830 RCV003228831 |
| Mucopolysaccharidosis, MPS-I-H/S |
Conflicting classifications of pathogenicity |
rs558586992 |
RCV001198676 |
| Nephrolithiasis susceptibility caused by SLC26A1 |
Uncertain significance; Conflicting classifications of pathogenicity; Benign |
rs148721282, rs138449255, rs3796623, rs752562626, rs778314762, rs933082796, rs780694854, rs778406580, rs201921976, rs572968482, rs749514306, rs745511682, rs148726880, rs754967651, rs752630392, rs139142520, rs751317363, rs199532422, rs200360255, rs202242030, rs777403763, rs761530861, rs868000224, rs560906557, rs750448829, rs371025483, rs367843214, rs1181520832, rs1234376069, rs558027930, rs369252520, rs770701423, rs143915071, rs142565869, rs781421120, rs572928465, rs150233366, rs770778896, rs779417668, rs139024319, rs148832260, rs142573758, rs749932178, rs763786159, rs536555705, rs200069949, rs138233223, rs376555831, rs149040232, rs149307649, rs778482338, rs754358942, rs139938830, rs569131932, rs554618177, rs200857252, rs142648939, rs763875856, rs375317028, rs374288131, rs756823579, rs202108786, rs200297109, rs774511066, rs866039640, rs199622307, rs200798328, rs1262182436, rs148386572, rs201503661, rs374176452, rs370834972, rs200470975, rs558586992, rs368056565, rs147553032, rs776045970, rs140299648, rs377629899 View all (64 more) |
RCV005005177 RCV005040189 RCV004762152 RCV004763308 RCV005042532 RCV005032076 RCV005038494 RCV005038410 RCV005005306 RCV005002647 RCV005038482 RCV005002700 RCV005002701 RCV005002693 RCV005002731 RCV005002783 RCV005034759 RCV005034767 RCV005045355 RCV005034815 RCV005034779 RCV005036662 RCV005032337 RCV005044969 RCV005045067 RCV005045094 RCV005034543 RCV005034596 RCV005036531 RCV005045381 RCV005036539 RCV005036577 RCV005036586 RCV005047356 RCV005036602 RCV005036611 RCV005036617 RCV005036624 RCV005036688 RCV005031822 RCV005396826 RCV005003586 RCV005036711 RCV005036710 RCV005003608 RCV005047492 RCV005047503 RCV005047549 RCV005036795 RCV005036796 RCV005036851 RCV005036858 RCV005036848 RCV004763721 RCV005036940 RCV005036989 RCV005036962 RCV005036967 RCV005047811 RCV005036999 RCV004546815 RCV005040530 RCV005038571 RCV005038590 RCV005038616 RCV005038618 RCV004759336 RCV005038679 RCV004555436 RCV005357430 RCV005003447 RCV005031542 RCV005031543 RCV005005028 RCV005036446 RCV005040011 RCV005040019 RCV005036508 RCV005005151 RCV005038053 |
| Nonpapillary renal cell carcinoma |
Conflicting classifications of pathogenicity |
rs761530861 |
RCV005927009 |
| SLC26A1-related disorder |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs59758572, rs144567476, rs547128457, rs35719765, rs144076450, rs150395578, rs923099050, rs139024319, rs148832260, rs376909897, rs1300301955, rs754470755, rs371320635, rs554618177, rs182088046, rs202108786, rs373321958, rs773383372, rs187110381, rs36095812, rs147094131, rs146466185, rs756246013 View all (8 more) |
RCV003980604 RCV003913525 RCV003978736 RCV004756372 RCV003973541 RCV003926617 RCV004756485 RCV004755826 RCV004755827 RCV003392772 RCV003402730 RCV003946648 RCV003909035 RCV004756528 RCV003981074 RCV003956576 RCV003942083 RCV003934722 RCV003925520 RCV003915814 RCV003940533 RCV003952478 RCV004756194 |
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