SNP Links for Gene (Select 3123) - SNP

Select item 14915891771.

rs1491589177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACAC,ACACAC [Show Flanks]
Chromosome:: 6:32584009 (GRCh38)
6:32551787 (GRCh37)
Canonical SPDI:: NC_000006.12:32584009:C:CAC,NC_000006.12:32584009:C:CACAC,NC_000006.12:32584009:C:CACACAC
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACAC=0./0 (ALFA)
CACA=0.00012/2 (TOMMO)
HGVS:: NC_000006.12:g.32584010_32584011insAC, NC_000006.12:g.32584010_32584011insACAC, NC_000006.12:g.32584011AC[3], NC_000006.11:g.32551787_32551788insAC, NC_000006.11:g.32551787_32551788insACAC, NC_000006.11:g.32551788AC[3], NG_002432.1:g.131278_131279insAC, NG_002432.1:g.131278_131279insACAC, NG_002432.1:g.131279AC[3], NT_113891.3:g.4002897_4002898insAC, NT_113891.3:g.4002897_4002898insACAC, NT_113891.3:g.4002898AC[3], NT_113891.2:g.4003003_4003004insAC, NT_113891.2:g.4003003_4003004insACAC, NT_113891.2:g.4003004AC[3], NG_002392.2:g.129107_129108insAC, NG_002392.2:g.129107_129108insACAC, NG_002392.2:g.129108AC[3], NG_029921.1:g.13551_13552insTG, NG_029921.1:g.13551_13552insTGTG, NG_029921.1:g.13552TG[3], NT_167248.2:g.3783856_3783857insAC, NT_167248.2:g.3783856_3783857insACAC, NT_167248.2:g.3783857AC[3], NT_167248.1:g.3789452_3789453insAC, NT_167248.1:g.3789452_3789453insACAC, NT_167248.1:g.3789453AC[3], NT_167245.2:g.3819320_3819321insAC, NT_167245.2:g.3819320_3819321insACAC, NT_167245.2:g.3819321AC[3], NT_167245.1:g.3824905_3824906insAC, NT_167245.1:g.3824905_3824906insACAC, NT_167245.1:g.3824906AC[3], NT_167249.2:g.3985049AC[25], NT_167249.2:g.3985049AC[26], NT_167249.2:g.3985049AC[27], NT_167249.1:g.3984347AC[25], NT_167249.1:g.3984347AC[26], NT_167249.1:g.3984347AC[27], NT_167246.2:g.3993720_3993721insAC, NT_167246.2:g.3993720_3993721insACAC, NT_167246.2:g.3993721AC[3], NT_167246.1:g.3999340_3999341insAC, NT_167246.1:g.3999340_3999341insACAC, NT_167246.1:g.3999341AC[3]

Select item 14915184002.

rs1491518400 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:32588562 (GRCh38)
6:32556339 (GRCh37)
Canonical SPDI:: NC_000006.12:32588561:TG:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0548/650 (ALFA)
-=0.00082/14 (TOMMO)
-=0.00292/144 (GnomAD)
HGVS:: NC_000006.12:g.32588562_32588563del, NC_000006.11:g.32556339_32556340del, NG_002432.1:g.135830_135831del, NT_113891.3:g.4010166_4010167del, NT_113891.2:g.4010272_4010273del, NG_002392.2:g.136376_136377del, NG_029921.1:g.6281_6282del, NT_167248.2:g.3791135_3791136del, NT_167248.1:g.3796731_3796732del, NT_167245.2:g.3828881_3828882del, NT_167245.1:g.3834466_3834467del, NT_167249.2:g.3992550_3992551del, NT_167249.1:g.3991848_3991849del, NG_002433.1:g.145030_145031del, NT_167246.2:g.4003279_4003280delinsTG, NT_167246.2:g.4003279_4003280del, NT_167246.1:g.4008899_4008900delinsTG, NT_167246.1:g.4008899_4008900del

Select item 14915134183.

rs1491513418 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:32584097 (GRCh38)
6:32551874 (GRCh37)
Canonical SPDI:: NC_000006.12:32584096:GG:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.32584097_32584098del, NC_000006.11:g.32551874_32551875del, NG_002432.1:g.131365_131366del, NT_113891.3:g.4002978C>G, NT_113891.3:g.4002977GC[1], NT_113891.2:g.4003084C>G, NT_113891.2:g.4003083GC[1], NG_002392.2:g.129188C>G, NG_002392.2:g.129187GC[1], NG_029921.1:g.13470G>C, NG_029921.1:g.13469CG[1], NT_167248.2:g.3783947C>G, NT_167248.2:g.3783946GC[1], NT_167248.1:g.3789543C>G, NT_167248.1:g.3789542GC[1], NT_167245.2:g.3819389dup, NT_167245.2:g.3819389del, NT_167249.2:g.3985135C>G, NT_167249.2:g.3985134GC[1], NT_167249.1:g.3984433C>G, NT_167249.1:g.3984432GC[1], NG_002433.1:g.137613C>G, NG_002433.1:g.137612GC[1], NT_167246.2:g.3993789dup, NT_167246.2:g.3993789del, NT_167245.1:g.3824974dup, NT_167245.1:g.3824974del, NT_167246.1:g.3999409dup, NT_167246.1:g.3999409del

Select item 14915067044.

rs1491506704 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CACA [Show Flanks]
Chromosome:: 6:32584007 (GRCh38)
6:32551785 (GRCh37)
Canonical SPDI:: NC_000006.12:32584007::CA,NC_000006.12:32584007::CACA
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000006.12:g.32584007_32584008insCA, NC_000006.12:g.32584007_32584008insCACA, NC_000006.11:g.32551784_32551785insCA, NC_000006.11:g.32551784_32551785insCACA, NG_002432.1:g.131275_131276insCA, NG_002432.1:g.131275_131276insCACA, NT_113891.3:g.4002895_4002896insAC, NT_113891.3:g.4002895_4002896insACAC, NT_113891.2:g.4003001_4003002insAC, NT_113891.2:g.4003001_4003002insACAC, NG_002392.2:g.129105_129106insAC, NG_002392.2:g.129105_129106insACAC, NG_029921.1:g.13553_13554insTG, NG_029921.1:g.13553_13554insTGTG, NT_167248.2:g.3783854_3783855insAC, NT_167248.2:g.3783854_3783855insACAC, NT_167248.1:g.3789450_3789451insAC, NT_167248.1:g.3789450_3789451insACAC, NT_167249.2:g.3985046_3985047insAC, NT_167249.2:g.3985046_3985047insACAC, NT_167249.1:g.3984344_3984345insAC, NT_167249.1:g.3984344_3984345insACAC

Select item 14914995115.

rs1491499511 has merged into rs9279735 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:32584008 (GRCh38)
6:32551785 (GRCh37)
Canonical SPDI:: NC_000006.12:32584006:TGT:T
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00051/9 (GnomAD)
-=0.00432/47 (TOMMO)
HGVS:: NC_000006.12:g.32584008_32584009del, NC_000006.11:g.32551785_32551786del, NG_002432.1:g.131276_131277del, NT_113891.3:g.4002895C>G, NT_113891.3:g.4002894TC[5], NT_113891.2:g.4003001C>G, NT_113891.2:g.4003000TC[5], NG_002392.2:g.129105C>G, NG_002392.2:g.129104TC[5], NG_029921.1:g.13553G>C, NG_029921.1:g.13543GA[5], NT_167248.2:g.3783854C>G, NT_167248.2:g.3783853TC[5], NT_167248.1:g.3789450C>G, NT_167248.1:g.3789449TC[5], NT_167245.2:g.3819319_3819320insGT, NT_167249.2:g.3985046C>G, NT_167249.2:g.3985013TC[17], NT_167249.1:g.3984344C>G, NT_167249.1:g.3984311TC[17], NT_167246.2:g.3993719_3993720insGT, NT_167245.1:g.3824904_3824905insGT, NT_167246.1:g.3999339_3999340insGT

Select item 14914949006.

rs1491494900 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:32578902 (GRCh38)
6:32546679 (GRCh37)
Canonical SPDI:: NC_000006.12:32578901:CT:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000006.12:g.32578902_32578903del, NC_000006.11:g.32546679_32546680del, NG_002432.1:g.126170_126171del, NT_167245.2:g.3814671_3814672del, NT_167245.1:g.3820256_3820257del, NT_167246.2:g.3989079_3989080del, NT_167246.1:g.3994699_3994700del, NM_002124.4:c.*188_*189del, NM_002124.3:c.*188_*189del, NM_001037638.1:c.*188_*189del, NM_001359193.1:c.*190_*191del, NM_001243965.1:c.*186CA[1], NM_001243965.1:c.*187_*190del, NM_001359194.1:c.*190_*191del, XM_024452553.2:c.*186CA[1], XM_024452553.2:c.*187_*190del, XM_024452553.1:c.*186CA[1], XM_024452553.1:c.*187_*190del, XM_047443024.1:c.*186CA[1], XM_047443024.1:c.*187_*190del

Select item 14914331747.

rs1491433174 has merged into rs202050538 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTC>-,TC,TCTC,TCTCTCTC [Show Flanks]
Chromosome:: 6:32584013 (GRCh38)
6:32551790 (GRCh37)
Canonical SPDI:: NC_000006.12:32584008:TCTCTCTCTC:TCTC,NC_000006.12:32584008:TCTCTCTCTC:TCTCTC,NC_000006.12:32584008:TCTCTCTCTC:TCTCTCTC,NC_000006.12:32584008:TCTCTCTCTC:TCTCTCTCTCTC
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
HGVS:: NC_000006.12:g.32584009TC[2], NC_000006.12:g.32584009TC[3], NC_000006.12:g.32584009TC[4], NC_000006.12:g.32584009TC[6], NC_000006.11:g.32551786TC[2], NC_000006.11:g.32551786TC[3], NC_000006.11:g.32551786TC[4], NC_000006.11:g.32551786TC[6], NG_002432.1:g.131277TC[2], NG_002432.1:g.131277TC[3], NG_002432.1:g.131277TC[4], NG_002432.1:g.131277TC[6], NT_113891.3:g.4002905dup, NT_113891.3:g.4002900_4002904del, NT_113891.3:g.4002902_4002904del, NT_113891.3:g.4002904del, NT_113891.3:g.4002905_4002906insTCC, NT_167248.2:g.3783865_3783867delinsTCT, NT_167248.2:g.3783863_3783868del, NT_167248.2:g.3783865AC[20], NT_167248.2:g.3783865_3783867delinsT, NT_167248.2:g.3783865_3783867delinsTCTCT, NT_167248.1:g.3789461_3789463delinsTCT, NT_167248.1:g.3789459_3789464del, NT_167248.1:g.3789461AC[20], NT_167248.1:g.3789461_3789463delinsT, NT_167248.1:g.3789461_3789463delinsTCTCT, NG_029921.1:g.13543_13544insGAGAG, NG_029921.1:g.13544del, NG_029921.1:g.13543dup, NG_029921.1:g.13543_13544insGAG, NG_029921.1:g.13543_13544insGAGAGAG, NT_167245.2:g.3819313TC[5], NT_167245.2:g.3819313TC[6], NT_167245.2:g.3819313TC[7], NT_167245.2:g.3819313TC[9], NT_167245.1:g.3824898TC[5], NT_167245.1:g.3824898TC[6], NT_167245.1:g.3824898TC[7], NT_167245.1:g.3824898TC[9], NT_167249.2:g.3985049_3985055delinsTCTCTCT, NT_167249.2:g.3985049_3985055delinsT, NT_167249.2:g.3985049_3985055delinsTCT, NT_167249.2:g.3985049_3985055delinsTCTCT, NT_167249.2:g.3985049_3985055delinsTCTCTCTCT, NT_167249.1:g.3984347_3984353delinsTCTCTCT, NT_167249.1:g.3984347_3984353delinsT, NT_167249.1:g.3984347_3984353delinsTCT, NT_167249.1:g.3984347_3984353delinsTCTCT, NT_167249.1:g.3984347_3984353delinsTCTCTCTCT, NG_002433.1:g.137530_137533delinsTCTCTCTCT, NG_002433.1:g.137530_137533delinsTCT, NG_002433.1:g.137530_137533delinsTCTCT, NG_002433.1:g.137530_137533delinsTCTCTCT, NG_002433.1:g.137530_137533delinsTCTCTCTCTCT, NT_167246.2:g.3993713TC[5], NT_167246.2:g.3993713TC[6], NT_167246.2:g.3993713TC[7], NT_167246.2:g.3993713TC[9], NT_167246.1:g.3999333TC[5], NT_167246.1:g.3999333TC[6], NT_167246.1:g.3999333TC[7], NT_167246.1:g.3999333TC[9], NT_113891.2:g.4003011dup, NT_113891.2:g.4003006_4003010del, NT_113891.2:g.4003008_4003010del, NT_113891.2:g.4003010del, NT_113891.2:g.4003011_4003012insTCC, NG_002392.2:g.129115dup, NG_002392.2:g.129110_129114del, NG_002392.2:g.129112_129114del, NG_002392.2:g.129114del, NG_002392.2:g.129115_129116insTCC

Select item 14913307358.

rs1491330735 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:32586204 (GRCh38)
6:32553981 (GRCh37)
Canonical SPDI:: NC_000006.12:32586203:GC:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00048/8 (TOMMO)
HGVS:: NC_000006.12:g.32586204_32586205del, NC_000006.11:g.32553981_32553982del, NG_002432.1:g.133472_133473del, NT_113891.3:g.4007104_4007105del, NT_113891.2:g.4007210_4007211del, NG_002392.2:g.133314_133315del, NG_029921.1:g.9343_9344del, NT_167248.2:g.3788073_3788074del, NT_167248.1:g.3793669_3793670del, NT_167245.2:g.3823838_3823839del, NT_167245.1:g.3829423_3829424del, NT_167246.2:g.3998238_3998239del, NT_167246.1:g.4003858_4003859del

Select item 14912862899.

rs1491286289 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:32584184 (GRCh38)
6:32551961 (GRCh37)
Canonical SPDI:: NC_000006.12:32584183:GC:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.034058/528 (ALFA)
-=0.007605/4 (Korea1K)
-=0.020722/341 (TOMMO)
-=0.117513/16350 (GnomAD_exomes)
-=0.134995/9400 (GnomAD)
-=0.167458/13830 (ExAC)
HGVS:: NC_000006.12:g.32584184_32584185del, NC_000006.11:g.32551961_32551962del, NG_002432.1:g.131452_131453del, NT_113891.3:g.4003065_4003066del, NT_113891.2:g.4003171_4003172del, NG_002392.2:g.129275_129276del, NG_029921.1:g.13382_13383del, NM_002124.4:c.294_295del, NM_002124.3:c.294_295del, NM_001243965.1:c.294_295del, NM_001359194.1:c.294_295del, NM_001359193.1:c.295G>C, NM_001359193.1:c.294_295del, NT_167248.2:g.3784034_3784035del, NT_167248.1:g.3789630_3789631del, NT_167249.2:g.3985222_3985223del, NT_167249.1:g.3984520_3984521del, NG_002433.1:g.137700_137701del, XM_024452553.2:c.333_334del, XM_024452553.1:c.333_334del, XM_047443024.1:c.294_295del, NP_002115.2:p.Gln99fs

Select item 149125476610.

rs1491254766 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:32580906 (GRCh38)
6:32548683 (GRCh37)
Canonical SPDI:: NC_000006.12:32580902:TTTTT:TTT
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0./0 (ExAC)
HGVS:: NC_000006.12:g.32580906_32580907del, NC_000006.11:g.32548683_32548684del, NG_002432.1:g.128174_128175del, NT_113891.3:g.3999824C>T, NT_113891.3:g.3999822CT[1], NT_113891.2:g.3999930C>T, NT_113891.2:g.3999928CT[1], NG_002392.2:g.126034C>T, NG_002392.2:g.126032CT[1], NG_029921.1:g.16624G>A, NG_029921.1:g.16623AG[1], NT_167248.2:g.3780783C>T, NT_167248.2:g.3780781CT[1], NT_167248.1:g.3786379C>T, NT_167248.1:g.3786377CT[1], NT_167245.2:g.3816254_3816255delinsTT, NT_167245.2:g.3816254_3816255del, NT_167245.1:g.3821839_3821840delinsTT, NT_167245.1:g.3821839_3821840del, NT_167249.2:g.3980751C>T, NT_167249.2:g.3980749CT[1], NT_167249.1:g.3980049C>T, NT_167249.1:g.3980047CT[1], NG_002433.1:g.133237C>T, NG_002433.1:g.133235CT[1], NT_167246.2:g.3990654_3990655delinsTT, NT_167246.2:g.3990654_3990655del, NT_167246.1:g.3996274_3996275delinsTT, NT_167246.1:g.3996274_3996275del

Select item 149113236511.

rs1491132365 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:32586133 (GRCh38)
6:32553910 (GRCh37)
Canonical SPDI:: NC_000006.12:32586132:CG:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.074027/8365 (GnomAD)
-=0.177938/2981 (TOMMO)
HGVS:: NC_000006.12:g.32586133_32586134del, NC_000006.11:g.32553910_32553911del, NG_002432.1:g.133401_133402del, NT_167245.2:g.3823767A>C, NT_167245.2:g.3823767_3823768del, NT_167245.1:g.3829352A>C, NT_167245.1:g.3829352_3829353del, NT_167249.2:g.3989776A>C, NT_167249.2:g.3989776_3989777del, NT_167249.1:g.3989074A>C, NT_167249.1:g.3989074_3989075del, NG_002433.1:g.142256A>C, NG_002433.1:g.142256_142257del, NT_167246.2:g.3998167A>C, NT_167246.2:g.3998167_3998168del, NT_167246.1:g.4003787A>C, NT_167246.1:g.4003787_4003788del

Select item 149112451412.

rs1491124514 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 6:32584181 (GRCh38)
6:32551958 (GRCh37)
Canonical SPDI:: NC_000006.12:32584180:CC:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.00005/3 (ExAC)
HGVS:: NC_000006.12:g.32584181_32584182del, NC_000006.11:g.32551958_32551959del, NG_002432.1:g.131449_131450del, NT_113891.3:g.4003062T>C, NT_113891.3:g.4003063_4003064del, NT_113891.2:g.4003168T>C, NT_113891.2:g.4003169_4003170del, NG_002392.2:g.129272T>C, NG_002392.2:g.129273_129274del, NG_029921.1:g.13386A>G, NG_029921.1:g.13385_13386del, NM_002124.4:c.297_298del, NM_002124.3:c.297_298del, NM_001243965.1:c.298A>G, NM_001243965.1:c.297_298del, NM_001359194.1:c.298A>G, NM_001359194.1:c.298_299del, NM_001359193.1:c.297_298delinsGG, NM_001359193.1:c.297_298del, NT_167248.2:g.3784031T>C, NT_167248.2:g.3784032_3784033del, NT_167248.1:g.3789627T>C, NT_167248.1:g.3789628_3789629del, NT_167245.2:g.3819470_3819471del, NT_167245.1:g.3825055_3825056del, NT_167249.2:g.3985219T>C, NT_167249.2:g.3985218CT[1], NT_167249.1:g.3984517T>C, NT_167249.1:g.3984516CT[1], NG_002433.1:g.137697T>C, NG_002433.1:g.137698_137699del, NT_167246.2:g.3993870_3993871del, NT_167246.1:g.3999490_3999491del, XM_024452553.2:c.337A>G, XM_024452553.2:c.336_337del, XM_024452553.1:c.337A>G, XM_024452553.1:c.336_337del, NM_001037638.1:c.299_300del, XM_047443024.1:c.298A>G, XM_047443024.1:c.297_298del, NP_002115.2:p.Gln99fs

Select item 149109666013.

rs1491096660 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:32586204 (GRCh38)
6:32553982 (GRCh37)
Canonical SPDI:: NC_000006.12:32586204:CC:CCC
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.01576/187 (ALFA)
C=0.05034/4299 (GnomAD)
C=0.13225/2176 (TOMMO)
HGVS:: NC_000006.12:g.32586206dup, NC_000006.11:g.32553983dup, NG_002432.1:g.133474dup, NT_113891.3:g.4007106dup, NT_113891.2:g.4007212dup, NG_002392.2:g.133316dup, NG_029921.1:g.9343dup, NT_167248.2:g.3788075dup, NT_167248.1:g.3793671dup, NT_167245.2:g.3823840dup, NT_167245.1:g.3829425dup, NT_167249.2:g.3989850dup, NT_167249.1:g.3989148dup, NG_002433.1:g.142330dup, NT_167246.2:g.3998240dup, NT_167246.1:g.4003860dup

Select item 149108821214.

rs1491088212 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:32589807 (GRCh38)
6:32557584 (GRCh37)
Canonical SPDI:: NC_000006.12:32589806:AA:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0005/6 (ALFA)
-=0.00405/204 (GnomAD)
-=0.05218/875 (TOMMO)
HGVS:: NC_000006.12:g.32589807_32589808del, NC_000006.11:g.32557584_32557585del, NG_002432.1:g.137075_137076del, NT_113891.3:g.4011418_4011419del, NT_113891.2:g.4011524_4011525del, NG_002392.2:g.137628_137629del, NG_029921.1:g.5029_5030del, NM_002124.4:c.-66_-65del, NM_002124.3:c.-66_-65del, NM_001243965.1:c.-66_-65del, NM_001359194.1:c.-66G>T, NM_001359194.1:c.-66_-65del, NT_167248.2:g.3792387_3792388del, NT_167248.1:g.3797983_3797984del, NT_167245.2:g.3830118C>A, NT_167245.2:g.3830117_3830118del, NT_167245.1:g.3835703C>A, NT_167245.1:g.3835702_3835703del, NT_167249.2:g.3993837C>A, NT_167249.2:g.3993836_3993837del, NT_167249.1:g.3993135C>A, NT_167249.1:g.3993134_3993135del, NG_002433.1:g.146317C>A, NG_002433.1:g.146316_146317del, NT_167246.2:g.4004516C>A, NT_167246.2:g.4004515_4004516del, NT_167246.1:g.4010136C>A, NT_167246.1:g.4010135_4010136del, XM_024452553.2:c.-66_-65del, XM_024452553.1:c.-66_-65del, XM_047443024.1:c.-66_-65del

Select item 149102407115.

rs1491024071 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:32578433 (GRCh38)
6:32546210 (GRCh37)
Canonical SPDI:: NC_000006.12:32578431:AGA:A
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.02158/256 (ALFA)
HGVS:: NC_000006.12:g.32578433_32578434del, NC_000006.11:g.32546210_32546211del, NG_002432.1:g.125701_125702del, NT_113891.3:g.3997701A>G, NT_113891.3:g.3997704_3997705del, NT_113891.2:g.3997807A>G, NT_113891.2:g.3997810_3997811del, NG_002392.2:g.123911A>G, NG_002392.2:g.123914_123915del, NG_029921.1:g.18747T>C, NG_029921.1:g.18748_18749del, NT_167248.2:g.3778660A>G, NT_167248.2:g.3778663_3778664del, NT_167248.1:g.3784256A>G, NT_167248.1:g.3784259_3784260del, NT_167245.2:g.3814200GA[1], NT_167245.1:g.3819785GA[1], NT_167246.2:g.3988608GA[1], NT_167246.1:g.3994228GA[1]

Select item 149072435216.

rs1490724352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:32581006 (GRCh38)
6:32548783 (GRCh37)
Canonical SPDI:: NC_000006.12:32581005:A:C,NC_000006.12:32581005:A:G
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.15284/1813 (ALFA)
G=0.09354/599 (1000Genomes)
G=0.09927/1643 (TOMMO)
G=0.13933/406 (KOREAN)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000006.12:g.32581006A>C, NC_000006.12:g.32581006A>G, NC_000006.11:g.32548783A>C, NC_000006.11:g.32548783A>G, NG_002432.1:g.128274A>C, NG_002432.1:g.128274A>G, NT_113891.3:g.3999926A>C, NT_113891.3:g.3999926A>G, NT_113891.2:g.4000032A>C, NT_113891.2:g.4000032A>G, NG_002392.2:g.126136A>C, NG_002392.2:g.126136A>G, NG_029921.1:g.16522T>G, NG_029921.1:g.16522T>C, NT_167248.2:g.3780885A>C, NT_167248.2:g.3780885A>G, NT_167248.1:g.3786481A>C, NT_167248.1:g.3786481A>G, NT_167245.2:g.3816353A>C, NT_167245.2:g.3816353A>G, NT_167245.1:g.3821938A>C, NT_167245.1:g.3821938A>G, NT_167249.2:g.3980849A>C, NT_167249.2:g.3980849A>G, NT_167249.1:g.3980147A>C, NT_167249.1:g.3980147A>G, NG_002433.1:g.133335A>C, NG_002433.1:g.133335A>G, NT_167246.2:g.3990753A>C, NT_167246.2:g.3990753A>G, NT_167246.1:g.3996373A>C, NT_167246.1:g.3996373A>G

Select item 149011842217.

rs1490118422 has merged into rs1286903919 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 6:32584491 (GRCh38)
6:32552268 (GRCh37)
Canonical SPDI:: NC_000006.12:32584490:CCCC:CCC,NC_000006.12:32584490:CCCC:CCCCC
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.0057/95 (TOMMO)
-=0.01327/9 (Korea1K)
-=0.02686/172 (1000Genomes)
HGVS:: NC_000006.12:g.32584494del, NC_000006.12:g.32584494dup, NC_000006.11:g.32552271del, NC_000006.11:g.32552271dup, NG_002432.1:g.131762del, NG_002432.1:g.131762dup, NT_113891.3:g.4003378del, NT_113891.3:g.4003378dup, NT_113891.2:g.4003484del, NT_113891.2:g.4003484dup, NG_002392.2:g.129588del, NG_002392.2:g.129588dup, NG_029921.1:g.13074del, NG_029921.1:g.13074dup, NT_167248.2:g.3784347del, NT_167248.2:g.3784347dup, NT_167248.1:g.3789943del, NT_167248.1:g.3789943dup, NT_167245.2:g.3819787del, NT_167245.2:g.3819787dup, NT_167245.1:g.3825372del, NT_167245.1:g.3825372dup, NT_167249.2:g.3985478del, NT_167249.2:g.3985478dup, NT_167249.1:g.3984776del, NT_167249.1:g.3984776dup, NG_002433.1:g.137956del, NG_002433.1:g.137956dup, NT_167246.2:g.3994187del, NT_167246.2:g.3994187dup, NT_167246.1:g.3999807del, NT_167246.1:g.3999807dup

Select item 148980832418.

rs1489808324 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:32583986 (GRCh38)
6:32551763 (GRCh37)
Canonical SPDI:: NC_000006.12:32583985:C:
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00127/13 (TOMMO)
HGVS:: NC_000006.12:g.32583986del, NC_000006.11:g.32551763del, NG_002432.1:g.131254del, NT_167245.2:g.3819318del, NT_167245.1:g.3824903del, NT_167249.2:g.3985024del, NT_167249.1:g.3984322del, NG_002433.1:g.137510del, NT_167246.2:g.3993718del, NT_167246.1:g.3999338del

Select item 148966281219.

rs1489662812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32590845 (GRCh38)
6:32558622 (GRCh37)
Canonical SPDI:: NC_000006.12:32590844:G:A
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.03423/406 (ALFA)
A=0.00065/12 (TOMMO)
A=0.00243/6 (KOREAN)
HGVS:: NC_000006.12:g.32590845G>A, NC_000006.11:g.32558622G>A, NT_113891.3:g.4012453G>A, NT_113891.2:g.4012559G>A, NG_002392.2:g.138663G>A, NG_029921.1:g.3995C>T, NT_167248.2:g.3793422G>A, NT_167248.1:g.3799018G>A, NT_167245.2:g.3832284G>A, NT_167245.1:g.3837869G>A, NT_167249.2:g.3995994G>A, NT_167249.1:g.3995292G>A, NG_002433.1:g.148474G>A

Select item 148934719320.

rs1489347193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32580817 (GRCh38)
6:32548594 (GRCh37)
Canonical SPDI:: NC_000006.12:32580816:C:T
Gene:: HLA-DRB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.32580817C>T, NC_000006.11:g.32548594C>T, NG_002432.1:g.128085C>T, NT_113891.3:g.3999740C>T, NT_113891.2:g.3999846C>T, NG_002392.2:g.125950C>T, NG_029921.1:g.16708G>A, NM_002124.4:c.692G>A, NM_002124.3:c.692G>A, NM_001243965.1:c.692G>A, NM_001359194.1:c.692G>A, NM_001359193.1:c.692G>A, NT_167248.2:g.3780699C>T, NT_167248.1:g.3786295C>T, NT_167245.2:g.3816168C>T, NT_167245.1:g.3821753C>T, NT_167249.2:g.3980664C>T, NT_167249.1:g.3979962C>T, NG_002433.1:g.133150C>T, NT_167246.2:g.3990568C>T, NT_167246.1:g.3996188C>T, XM_024452553.2:c.731G>A, XM_024452553.1:c.731G>A, NM_001037638.1:c.692G>A, XM_047443024.1:c.692G>A, NP_002115.2:p.Gly231Glu

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