Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

20135 items found (page 61 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9H251 pleiotropic VAR_046435 p.Phe2801Val Non-Disease rs3802707 0.001 -
Q9H251 pleiotropic VAR_027323 p.Arg1060Trp Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_027318 p.Glu247Lys Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_046408 p.Ser944Gly Non-Disease - - -
Q9H251 pleiotropic VAR_046404 p.Pro240Leu Disease rs121908354 0.0002 Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_012180 p.Thr1999Ser Non-Disease rs11592462 0.3452 -
Q9H251 pleiotropic VAR_046425 p.Arg2029Trp Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_027344 p.Val2933Glu Non-Disease - - -
Q9H251 pleiotropic VAR_027345 p.Asp2954Asn Non-Disease - - -
Q9H251 pleiotropic VAR_046417 p.Val1711Ile Non-Disease - - -
Q9H251 pleiotropic VAR_046423 p.Arg1912Trp Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_027327 p.Arg1437Gln Non-Disease rs56181447 0.0521 -
Q9H251 pleiotropic VAR_027322 p.Arg582Gln Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_012181 p.Glu2044Lys Non-Disease rs10466026 0.3327 -
Q9H251 pleiotropic VAR_027338 p.Asp2376Asn Non-Disease rs9663920 - -
Q9H251 pleiotropic VAR_027347 p.Arg3175His Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_046411 p.Asn1098Ser Disease rs41281310 0.001 Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_027321 p.Ala484Pro Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_012186 p.Glu2588Gln Non-Disease rs41281338 0.0066 -
Q9H251 pleiotropic VAR_046420 p.Val1807Met Non-Disease - - -
Q9H251 pleiotropic VAR_012179 p.Arg1804Gln Non-Disease rs3802711 0.139 -
Q9H251 pleiotropic VAR_046414 p.Arg1417Trp Non-Disease - - -
Q9H251 pleiotropic VAR_012188 p.Arg2956Cys Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_046409 p.Glu960Lys Non-Disease - - -
Q9H251 pleiotropic VAR_012184 p.Arg2358Gln Non-Disease rs4747194 0.3413 -
Q9H251 pleiotropic VAR_046415 p.Ile1520Met Non-Disease - - -
Q9H251 pleiotropic VAR_012173 p.Asn1351Asp Non-Disease rs1227065 0.2179 -
Q9H251 pleiotropic VAR_012175 p.Ala1575Thr Non-Disease rs1227051 0.2712 -
Q9H251 pleiotropic VAR_046427 p.Arg2171Cys Non-Disease - - -
Q9H251 pleiotropic VAR_024030 p.Ala366Thr Disease rs143282422 0.002 Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_012176 p.Thr1671Ser Non-Disease - - -
Q9H251 pleiotropic VAR_046416 p.Met1574Thr Non-Disease - - -
Q9H251 pleiotropic VAR_012189 p.Pro3059Thr Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_046419 p.Pro1788Leu Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_046405 p.Arg301Gln Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_012190 p.Phe3125Leu Non-Disease rs45583140 0.0954 -
Q9H251 pleiotropic VAR_012174 p.Gln1496His Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_046426 p.Ile2125Met Non-Disease rs16929354 - -
Q9H251 pleiotropic VAR_027334 p.Gly2017Ser Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_024031 p.Thr1209Ala Disease rs41281314 0.0493 Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_027346 p.Asn2962Ser Non-Disease - - -
Q9H251 pleiotropic VAR_046429 p.Asp2376Val Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_027337 p.Val2283Ile Non-Disease rs41281334 0.0367 -
Q9H251 pleiotropic VAR_046438 p.Arg3175Cys Non-Disease - - -
Q9H251 pleiotropic VAR_027320 p.Leu480Gln Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_027319 p.Asn452Ser Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_046431 p.Arg2489His Non-Disease - - -
Q9H251 pleiotropic VAR_046430 p.Leu2473Pro Non-Disease - - -
Q9H251 pleiotropic VAR_046432 p.Thr2530Ile Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_027342 p.Gly2744Ser Disease - - Usher syndrome 1D (USH1D) [MIM:601067]