Fabry:Annotated SNPs
From Bioinformatikpedia
Disease causing SNPs
Pos SNP Annotation 1 M1T HGMD 1 M1R HGMD 1 M1I HGMD 14 L14P HGMD 16 L16P HGMD 18 F18S HGMD 19 L19P HGMD 20 A20P Omim SNPedia SNPdbe HGMD 31 A31V HGMD 32 L32P HGMD 34 N34S Omim SNPedia SNPdbe HGMD 34 N34K HGMD 35 G35R HGMD 36 L36F HGMD 36 L36S HGMD 40 P40S Omim SNPedia SNPdbe HGMD 40 P40L HGMD 41 T41I HGMD 42 M42T HGMD 42 M42V HGMD 42 M42L HGMD 43 G43D HGMD 43 G43R HGMD 43 G43V HGMD 44 W44X Omim SNPedia 44 W44C HGMD 44 W44* HGMD 46 H46R HGMD 46 H46Y HGMD 47 W47L HGMD 47 W47G HGMD 48 E48K HGMD 49 R49S HGMD 49 R49G HGMD 49 R49L HGMD 49 R49P HGMD 50 F50C HGMD 51 M51I HGMD 51 M51K HGMD 52 C52S HGMD 52 C52R HGMD 52 C52* HGMD 54 L54P HGMD 56 C56* HGMD 56 C56F HGMD 56 C56G Omim SNPedia SNPdbe HGMD 56 C56Y HGMD 59 E59K HGMD 63 C63Y HGMD 65 S65T Omim SNPedia SNPdbe 66 E66G HGMD 66 E66Q Omim SNPedia SNPdbe HGMD 66 E66K HGMD 68 L68F HGMD 72 M72I HGMD 72 M72V HGMD 72 M72R HGMD 73 A73V HGMD 76 M76T HGMD 78 S78* HGMD 79 E79* HGMD 81 W81S HGMD 81 W81* HGMD 85 G85D HGMD 86 Y86C HGMD 86 Y86* HGMD 88 Y88D HGMD 89 L89R HGMD 89 L89P HGMD 91 I91T HGMD 92 D92Y HGMD 92 D92N HGMD 92 D92H HGMD 93 D93G HGMD 93 D93N HGMD 93 D93V HGMD 94 C94S HGMD 94 C94Y SNPdbe HGMD 95 W95S HGMD 95 W95* HGMD 97 A97P HGMD 97 A97V HGMD 99 Q99* HGMD 100 R100T HGMD 100 R100K HGMD 102 S102* HGMD 103 E103Q HGMD 106 L106R HGMD 107 Q107* HGMD 112 R112H HGMD 112 R112S HGMD 112 R112C Omim SNPedia SNPdbe HGMD 113 F113S HGMD 113 F113L HGMD 118 R118C SNPdbe HGMD 119 Q119* HGMD 121 A121P HGMD 125 H125P HGMD 126 S126G SNPdbe HGMD 127 K127* HGMD 128 G128E HGMD 129 L129P HGMD 131 L131P HGMD 132 G132R HGMD 134 Y134* HGMD 134 Y134S HGMD 135 A135V HGMD 136 D136H HGMD 138 G138R HGMD 138 G138E HGMD 141 T141I HGMD 142 C142* HGMD 142 C142Y HGMD 142 C142W HGMD 142 C142R HGMD 143 A143T Omim SNPedia SNPdbe HGMD 143 A143P Omim SNPedia SNPdbe HGMD 144 G144V HGMD 146 P146S Omim SNPedia SNPdbe HGMD 147 G147R HGMD 148 S148R HGMD 148 S148N HGMD 151 Y151* HGMD 152 Y152* HGMD 155 D155H SNPdbe HGMD 156 A156V HGMD 156 A156T Omim SNPedia SNPdbe HGMD 157 Q157* HGMD 162 W162* HGMD 162 W162R Omim SNPedia SNPdbe HGMD 162 W162C HGMD 163 G163V HGMD 165 D165V HGMD 165 D165H HGMD 166 L166V HGMD 167 L167P HGMD 168 K168R HGMD 169 F169S HGMD 170 D170V HGMD 170 D170H HGMD 171 G171D HGMD 171 G171C HGMD 171 G171R HGMD 172 C172Y HGMD 172 C172G HGMD 172 C172R HGMD 172 C172F HGMD 172 C172W HGMD 173 Y173* HGMD 177 L177* HGMD 183 G183S HGMD 183 G183D HGMD 187 M187T HGMD 187 M187V HGMD 191 L191P SNPdbe HGMD 191 L191Q HGMD 194 T194I HGMD 199 V199M HGMD 201 S201F HGMD 201 S201Y HGMD 202 C202Y HGMD 202 C202W Omim SNPedia SNPdbe HGMD 204 W204* HGMD 205 P205T HGMD 205 P205R HGMD 205 P205L HGMD 207 Y207S HGMD 215 N215S Omim SNPedia SNPdbe HGMD 216 Y216D HGMD 220 R220* HGMD 221 Q221* HGMD 222 Y222* HGMD 222 Y222X Omim SNPedia 223 C223R HGMD 223 C223Y HGMD 223 C223G HGMD 224 N224S HGMD 224 N224D HGMD 225 H225R HGMD 226 W226R HGMD 226 W226C HGMD 226 W226* HGMD 227 R227Q Omim SNPedia SNPdbe HGMD 227 R227X Omim SNPedia 227 R227* HGMD 230 A230T HGMD 231 D231N HGMD 231 D231V HGMD 234 D234E HGMD 234 D234Y HGMD 235 S235C HGMD 235 S235F HGMD 236 W236L HGMD 236 W236* HGMD 236 W236R HGMD 236 W236C HGMD 238 S238N HGMD 239 I239T HGMD 242 I242N HGMD 243 L243F HGMD 244 D244H HGMD 244 D244N HGMD 245 W245* HGMD 247 S247P HGMD 247 S247C HGMD 250 Q250P HGMD 250 Q250* HGMD 251 E251* HGMD 257 A257P HGMD 258 G258R HGMD 258 G258V HGMD 259 P259R HGMD 259 P259L HGMD 260 G260A HGMD 261 G261D HGMD 262 W262* HGMD 262 W262C HGMD 263 N263S HGMD 264 D264Y SNPdbe HGMD 264 D264V Omim SNPedia SNPdbe HGMD 265 P265R HGMD 265 P265L HGMD 266 D266V Omim SNPedia SNPdbe HGMD 266 D266Y HGMD 266 D266H HGMD 266 D266N HGMD 266 D266E HGMD 267 M267R HGMD 267 M267I HGMD 268 L268S HGMD 269 V269M HGMD 269 V269A Omim SNPedia SNPdbe HGMD 270 I270T HGMD 271 G271C HGMD 271 G271S HGMD 271 G271V HGMD 272 N272S Omim SNPedia SNPdbe HGMD 272 N272K HGMD 276 S276N HGMD 276 S276G HGMD 277 W277* HGMD 279 Q279H HGMD 279 Q279E Omim SNPedia SNPdbe HGMD 279 Q279R HGMD 280 Q280K HGMD 280 Q280H HGMD 282 T282N HGMD 282 T282A HGMD 283 Q283P HGMD 284 M284T HGMD 285 A285D HGMD 285 A285P HGMD 287 W287X Omim SNPedia 287 W287C HGMD 287 W287G HGMD 287 W287* HGMD 288 A288P HGMD 288 A288D HGMD 289 I289S HGMD 289 I289F HGMD 290 M290I HGMD 291 A291T HGMD 292 A292P HGMD 292 A292T SNPdbe HGMD 293 P293A HGMD 293 P293T HGMD 293 P293S HGMD 294 L294* HGMD 296 M296I Omim SNPedia SNPdbe HGMD 296 M296V Omim SNPedia SNPdbe HGMD 297 S297F Omim SNPedia SNPdbe HGMD 297 S297C HGMD 298 N298K HGMD 298 N298H HGMD 298 N298S HGMD 300 L300H HGMD 300 L300F HGMD 301 R301G HGMD 301 R301* HGMD 301 R301P HGMD 301 R301Q Omim SNPedia SNPdbe HGMD 303 I303N HGMD 306 Q306* HGMD 308 K308N HGMD 310 L310F HGMD 312 Q312H HGMD 312 Q312R HGMD 313 D313Y Omim SNPedia SNPdbe HGMD 316 V316E HGMD 317 I317N HGMD 317 I317T HGMD 320 N320K HGMD 320 N320Y HGMD 320 N320I HGMD 321 Q321R HGMD 321 Q321L HGMD 321 Q321E HGMD 321 Q321* HGMD 325 G325D HGMD 327 Q327E HGMD 327 Q327K Omim SNPedia SNPdbe HGMD 328 G328A Omim SNPedia SNPdbe HGMD 328 G328R Omim SNPedia SNPdbe HGMD 328 G328V HGMD 330 Q330* HGMD 333 Q333* HGMD 338 E338K HGMD 338 E338* HGMD 340 W340* HGMD 340 W340X Omim SNPedia 340 W340R HGMD 341 E341K HGMD 341 E341D HGMD 342 R342X Omim SNPedia 342 R342Q Omim SNPedia SNPdbe HGMD 342 R342* HGMD 344 L344P HGMD 345 S345P HGMD 348 A348P HGMD 349 W349* HGMD 350 A350P HGMD 352 A352D HGMD 355 N355K HGMD 356 R356W Omim SNPedia SNPdbe HGMD 357 Q357* HGMD 358 E358G HGMD 358 E358K HGMD 358 E358A HGMD 360 G360S HGMD 360 G360C HGMD 361 G361R Omim SNPdbe HGMD 362 P362L HGMD 363 R363C HGMD 363 R363H SNPdbe HGMD 365 Y365X Omim SNPedia 365 Y365* HGMD 373 G373D HGMD 373 G373S HGMD 377 A377D HGMD 378 C378R HGMD 378 C378Y HGMD 382 C382Y SNPdbe HGMD 382 C382W HGMD 384 I384N HGMD 385 T385P HGMD 386 Q386* HGMD 386 Q386P HGMD 398 E398* HGMD 398 E398K HGMD 398 E398X Omim SNPedia 399 W399* HGMD 401 S401* HGMD 403 L403S HGMD 407 I407K HGMD 409 P409T HGMD 409 P409A HGMD 409 P409S HGMD 410 T410A Omim SNPedia SNPdbe HGMD 410 T410K HGMD 410 T410P HGMD 411 G411D HGMD 414 L414S HGMD 415 L415P SNPdbe HGMD
Non-disease causing SNPs
Pos SNP Annotation 3 L3P SNPdbe 29 A29T SNPdbe 41 T41= dbSNP 43 G43= dbSNP 45 L45= dbSNP 112 R112= dbSNP 117 I117S SNPdbe 118 R118H SNPdbe 139 N139S SNPdbe 140 K140T SNPdbe 143 A143= dbSNP 174 C174G SNPdbe 186 H186R SNPdbe 235 S235= dbSNP 243 L243W SNPdbe 252 R252T SNPdbe 289 I289V SNPdbe 315 D315= dbSNP 316 V316I SNPdbe 323 P323T SNPdbe 326 K326= dbSNP 368 A368P SNPdbe 421 M421V SNPdbe
