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Genes at Omim

HLA-DRB1,
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 79
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

HLA-DRB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 6 rs1136758,rs758070868
dbSNP Clinvar
32552132 6490.33 T A,... . 2/3 54 None None None -3.44 None None None None None None HLA-DRB1|0.032266025|68.49%

KCNN3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 rs3831942,rs56352724
dbSNP Clinvar
154842199 40449.3 G GG... . 2/3 135 None None None None None None None None None KCNN3|0.329640894|25.51%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 2 . 162274607 21065.3 AT... A,... . 2/3 132 None None None None None None None None None TBR1|0.920406814|2.97%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 2 rs56759346,rs796169182
dbSNP Clinvar
198935822 2202.31 GC... G,... . 2/3 16 None None None None None None None None None PLCL1|0.302015105|27.49%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 2 rs796834544
dbSNP Clinvar
231380735 19057.3 CA CA... . 2/3 147 None None None None None None None None None SP100|0.002365394|90%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 . 23575619 1198.32 CTT C,... . 2/3 17 None None None None None None None None None UBE2E2|0.557960159|13.43%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 rs796789489,rs796698926,rs367606815
dbSNP Clinvar
114286357 5603.31 ATG AT... . 2/3 52 None None None 0.76877 0.76880 None None None None None None ANK2|0.34993042|24.11%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 rs776182207
dbSNP Clinvar
120240802 7646.31 CA... C,... . 2/3 26 None None None 0.25287 None None None None None None FABP2|0.062671479|59.14%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 5 rs142510783
dbSNP Clinvar
125929000 10562.3 AA... A,... . 2/3 88 None None None None None None None None None ALDH7A1|0.08379131|54.47%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 5 rs754666907,rs372587161
dbSNP Clinvar
176729736 10183.3 ACCC A,... . 2/3 81 None None None None None None None None None RAB24|0.237109181|32.69%,MXD3|0.074275902|56.47%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 6 . 36483295 28322.3 CC... C,... . 2/3 210 None None None None None None None None None STK38|0.934184484|2.67%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 6 rs754014595
dbSNP Clinvar
75796364 2475.31 GTATA G,... . 2/3 23 None None None None None None None None None COL12A1|0.494206072|16.13%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 6 rs369921974
dbSNP Clinvar
117681436 6548.31 GA... G,... . 2/3 23 None None None None None None None None None ROS1|0.673634438|9.27%,GOPC|0.446247849|18.34%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 7 rs71659705,rs745449989,rs71074649,rs397734534
dbSNP Clinvar
83023587 16869.3 TAC TA... . 2/3 92 None None None None None None None None None SEMA3E|0.36164343|23.33%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 9 rs796790898
dbSNP Clinvar
84248203 28488.3 CG... C,... . 2/3 147 None None None None None None None None None TLE1|0.907652554|3.29%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 9 . 123787697 21712.3 T TA... . 2/3 94 None None None 0.81550 None None None None None None C5|0.070590656|57.35%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 10 rs111495357,rs750023914
dbSNP Clinvar
71098436 17366.3 AG... A,... . 2/3 99 None None None None None None None None None HK1|0.110453712|49.13%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 10 rs71933840
dbSNP Clinvar
101420283 2741.86 GC... GC... . 2/3 27 None None None None None None None None None ENTPD7|0.209407283|35.63%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 11 rs746767674
dbSNP Clinvar
66131974 4805.31 CTTT C,... . 2/3 45 None None None None None None None None None SLC29A2|0.176204409|39.51%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 11 rs373572151,rs58774554
dbSNP Clinvar
102585493 3986.31 TT... TT... . 2/3 29 None None None None None None None None None MMP8|0.030128828|69.34%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 15 rs3074895
dbSNP Clinvar
48749040 4989.31 C CG... . 2/3 22 None None None None None None None None None FBN1|0.938751901|2.53%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 18 rs2001906
dbSNP Clinvar
77136389 3389.35 A T,... . 2/3 60 None None None 0.30351 0.30350 None None None None None None ATP9B|0.095143963|52.07%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 20 . 42199704 10748.3 GG... G,... . 2/3 64 None None None None None None None None None SGK2|0.112289403|48.81%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 X rs541950947
dbSNP Clinvar
70774984 2700.31 T TT... . 2/3 27 None None None None None None None None None OGT|0.924475508|2.87%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 . 31478638 7764.31 AA... AA... . 2/3 55 None None None None None None None None None PUM1|0.769454828|6.6%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 X rs72335867
dbSNP Clinvar
70352617 7012.31 CC... C,... . 2/3 35 None None None None None None None None None MED12|0.779576048|6.34%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 rs200902533
dbSNP Clinvar
92944314 14711.3 CA... C,... . 2/3 103 None None None None None None None None None GFI1|0.291440019|28.29%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 rs144271100,rs56185968
dbSNP Clinvar
156845492 7756.31 A AG... . 2/3 52 None None None None None None None None None NTRK1|0.341411283|24.74%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 rs796409389,rs67857042
dbSNP Clinvar
240695014 11007.3 CT... CT... . 2/3 76 None None None 0.67392 0.67390 None None None None None None GREM2|0.430967474|19.1%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 2 rs749703808
dbSNP Clinvar
118771682 30175.3 TG... T,... . 2/3 143 None None None None None None None None None CCDC93|0.212957266|35.25%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 2 rs71395583,rs59908560
dbSNP Clinvar
211320041 10013.3 G GA... . 2/3 72 None None None 0.00100 0.50560 None None None None None None LANCL1|0.234276925|32.99%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 rs199972003
dbSNP Clinvar
25315637 4089.31 C CT... . 2/3 23 None None None None None None None None None ZCCHC4|0.170597906|40.23%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 rs6148397,rs113034093
dbSNP Clinvar
36130099 9098.31 T TA... . 2/3 37 None None None None None None None None None ARAP2|0.117132933|47.92%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 rs10548601,rs560139291
dbSNP Clinvar
83792464 12864.3 TACAC T,... . 2/3 57 None None None None None None None None None SEC31A|0.225446867|33.84%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 . 88532182 3747.31 AG... A,... . 2/3 30 None None None None None None None None None DSPP|0.054175637|61.42%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 5 rs368393930
dbSNP Clinvar
150506104 4022.29 AA... AA... . 2/3 29 None None None 0.11182 0.11180 None None None None None None ANXA6|0.284174792|28.78%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 7 rs148595964
dbSNP Clinvar
7712941 36102.3 TA... T,... . 2/3 193 None None None None None None None None None RPA3|0.362118864|23.28%,UMAD1|0.119049622|47.57%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 7 rs764043807,rs57979375
dbSNP Clinvar
76062441 4237.86 T TT... . 2/3 19 None None None None None None None None None ZP3|0.006738949|83.78%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 8 rs201423895,rs10641831,rs34733792
dbSNP Clinvar
71075146 2677.55 A AT... . 2/3 16 None None None None None None None None None NCOA2|0.961655489|1.93%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 10 . 75405936 13716.3 GCACA G,... . 2/3 144 None None None None None None None None None SYNPO2L|0.0660965|58.34%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 10 rs376684362
dbSNP Clinvar
105815202 13878.3 TCACA T,... . 2/3 35 None None None None None None None None None COL17A1|0.220252717|34.39%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 11 rs780191912
dbSNP Clinvar
10820663 13373.3 TAAA T,... . 2/3 168 None None None None None None None None None EIF4G2|0.917901893|3.03%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 12 rs3040789
dbSNP Clinvar
7970347 16055.3 T G,... . 2/3 38 None None None 0.59405 0.59400 None None None None None None SLC2A14|0.007322818|83.21%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 12 rs60442024
dbSNP Clinvar
107350943 9871.31 CG... C,... . 2/3 39 None None None None None None None None None TMEM263|0.655539282|9.89%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 13 . 24853011 3265.88 TT... TT... . 2/3 38 None None None None None None None None None SPATA13|0.057968423|60.4%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 14 rs756756786
dbSNP Clinvar
51348281 4648.35 CT C,... . 2/3 55 None None None None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 16 rs752533003
dbSNP Clinvar
29809634 14638.3 TA... T,... . 2/3 160 None None None None None None None None None KIF22|0.225712492|33.8%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 16 rs66733785
dbSNP Clinvar
69151479 8760.31 CTTTT C,... . 2/3 86 None None None None None None None None None HAS3|0.384788136|21.73%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 17 rs966152176
dbSNP Clinvar
29349099 8153.33 ATGTG AT... . 2/3 48 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 18 rs376117295,rs777192569,rs55944702
dbSNP Clinvar
61166280 2999.33 G GT... . 2/3 16 None None None None None None None None None SERPINB5|0.223991404|33.96%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 19 rs779456972
dbSNP Clinvar
44337636 3857.35 CTT C,... . 2/3 44 None None None None None None None None None ZNF283|0.014136174|77.77%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 21 rs58898739
dbSNP Clinvar
45547736 3304.33 TA T,... . 2/3 36 None None None 0.29034 0.29030 None None None None None None PWP2|0.105595546|50.12%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 22 rs750630400,rs71184920
dbSNP Clinvar
24199764 3876.31 A AC... . 2/3 30 None None None None None None None None None SLC2A11|0.006726547|83.8%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 22 rs373462917
dbSNP Clinvar
26346484 6480.29 A AT... . 2/3 27 None None None None None None None None None MYO18B|0.016156932|76.35%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 rs758323947
dbSNP Clinvar
161192845 24235.3 CC... C,... . 2/3 133 None None None None None None None None None APOA2|0.081651912|54.86%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 rs202161632
dbSNP Clinvar
165378729 13169.3 TA... T,... . 2/3 73 None None None None None None None None None RXRG|0.195811421|37.18%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 2 . 218723394 2967.31 T TA... . 2/3 7 None None None None None None None None None TNS1|0.891163744|3.64%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 2 rs139275139,rs558660753,rs562193009,rs55939134
dbSNP Clinvar
219320233 6116.31 GAAA G,... . 2/3 75 None None None 0.42710 None None None None None None USP37|0.382075694|21.91%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 rs796520100
dbSNP Clinvar
48537603 4543.31 T TA... . 2/3 36 None None None None None None None None None FRYL|0.342095381|24.68%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 4 . 169341614 3982.31 TA... T,... . 2/3 32 None None None None None None None None None DDX60L|0.002204005|90.41%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 6 . 139071411 3294.36 GA... G,... . 2/3 76 None None None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 7 rs201839612
dbSNP Clinvar
38462154 2195.86 GT... GT... . 2/3 14 None None None 0.07668 0.07668 None None None None None None AMPH|0.168231418|40.54%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 7 . 51224395 3170.31 TCACA TC... . 2/3 19 None None None None None None None None None COBL|0.005288369|85.44%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 7 rs878955608,rs764977688
dbSNP Clinvar
132069504 17618.3 TA... T,... . 2/3 97 None None None None None None None None None PLXNA4|0.763178649|6.78%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 9 . 107561675 6491.35 TCA AC... . 2/3 60 None None None None None None None None None ABCA1|0.668333708|9.43%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 11 . 14486608 18917.3 TA... T,... . 2/3 94 None None None None None None None None None COPB1|0.798459183|5.89%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 12 rs142449467
dbSNP Clinvar
100478156 5367.31 TC... T,... . 2/3 28 None None None None None None None None None UHRF1BP1L|0.297863685|27.82%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 13 . 47256071 4519.31 TTGTG T,... . 2/3 17 None None None None None None None None None LRCH1|0.359785672|23.44%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 16 rs774406491
dbSNP Clinvar
11214668 6525.31 AACAC A,... . 2/3 43 None None None None None None None None None CLEC16A|0.208493287|35.76%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 16 rs34979386,rs386384982,rs386384983,rs867875433
dbSNP Clinvar
68598744 23308.3 A AT... . 2/3 140 None None None 0.76677 0.76680 None None None None None None ZFP90|0.101481093|50.87%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 17 rs74896139
dbSNP Clinvar
4794495 5336.9 G A,... . 2/3 35 None None None None None None None None None MINK1|0.312766522|26.63%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 18 rs374405615,rs56036260
dbSNP Clinvar
32948446 5766.31 T TT... . 2/3 21 None None None 0.07448 0.21490 0.12777 None None None None None None ZNF396|0.005248666|85.5%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 19 . 52148981 9845.35 C CA... . 2/3 47 None None None None None None None None None SIGLEC5|0.000613659|97.84%,SIGLEC14|0.000956802|95.75%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 19 rs754109043,rs777396088
dbSNP Clinvar
56000429 3787.87 GC CC... . 2/3 38 None None None None None None None None None SSC5D|0.005210209|85.56%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 20 . 31825704 8243.35 AT... AT... . 2/3 56 None None None None None None None None None BPIFA1|0.003135969|88.4%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 20 . 19646436 16645.3 CG... C,... . 2/3 61 None None None None None None None None None SLC24A3|0.290843458|28.32%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 21 rs574885349,rs3067492,rs60188802
dbSNP Clinvar
40717035 20117.3 TCACA T,... . 2/3 75 None None None 0.49080 None None None None None None HMGN1|0.109298147|49.32%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 1 rs146917181
dbSNP Clinvar
110301766 8190.86 AG... A,... . 2/3 80 None None None None None None None None None GSTM5|0.009497757|81.28%,EPS8L3|0.013583387|78.12%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 X . 101623586 11908.3 AT... A,... . 2/3 77 None None None None None None None None None NXF2B|0.001720821|91.79%
  • Page 1 of 1