SNP Links for Gene (Select 3118) - SNP

Select item 14915437401.

rs1491543740 [Homo sapiens]

Variant type:: SNV:
Alleles:: GC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14910896372.

rs1491089637 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:32747174 (GRCh38)
6:32714952 (GRCh37)
Canonical SPDI:: NC_000006.12:32747174::A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00023/1 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.32747174_32747175insA, NC_000006.11:g.32714951_32714952insA, NT_113891.3:g.4160747_4160748insA, NT_113891.2:g.4160853_4160854insA, NT_167248.2:g.3941451_3941452insA, NT_167248.1:g.3947047_3947048insA, NT_167245.2:g.3991931_3991932insA, NT_167245.1:g.3997516_3997517insA, NT_167249.2:g.4147321_4147322insA, NT_167249.1:g.4146619_4146620insA, NT_167246.2:g.4166502_4166503insA, NT_167246.1:g.4172122_4172123insA, NT_167247.2:g.4046549_4046550insA, NT_167247.1:g.4052134_4052135insA, NT_167244.2:g.4053313_4053314insA, NT_167244.1:g.4003229_4003230insA, NM_020056.5:c.*613_*614insA

Select item 14910096413.

rs1491009641 has merged into rs9282264 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 6:32740287 (GRCh38)
6:32708064 (GRCh37)
Canonical SPDI:: NC_000006.12:32740276:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:32740276:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:32740276:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:32740276:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.07708/344 (1000Genomes)
A=0.085/51 (NorthernSweden)
A=0.1/4 (GENOME_DK)
A=0.13188/489 (TWINSUK)
A=0.14738/568 (ALSPAC)
HGVS:: NC_000006.12:g.32740287_32740288del, NC_000006.12:g.32740288del, NC_000006.12:g.32740288dup, NC_000006.12:g.32740287_32740288dup, NC_000006.11:g.32708064_32708065del, NC_000006.11:g.32708065del, NC_000006.11:g.32708065dup, NC_000006.11:g.32708064_32708065dup, NT_113891.3:g.4153861_4153862del, NT_113891.3:g.4153862del, NT_113891.3:g.4153862dup, NT_113891.3:g.4153861_4153862dup, NT_113891.2:g.4153967_4153968del, NT_113891.2:g.4153968del, NT_113891.2:g.4153968dup, NT_113891.2:g.4153967_4153968dup, NT_167248.2:g.3934551_3934552del, NT_167248.2:g.3934552del, NT_167248.2:g.3934552dup, NT_167248.2:g.3934551_3934552dup, NT_167248.1:g.3940147_3940148del, NT_167248.1:g.3940148del, NT_167248.1:g.3940148dup, NT_167248.1:g.3940147_3940148dup, NT_167245.2:g.3985032_3985041delinsAAAAAAAAAA, NT_167245.2:g.3985032_3985041delinsAAAAAAAA, NT_167245.2:g.3985032_3985041delinsAAAAAAAAA, NT_167245.2:g.3985032_3985041delinsAAAAAAAAAAA, NT_167245.2:g.3985032_3985041delinsAAAAAAAAAAAA, NT_167245.1:g.3990617_3990626delinsAAAAAAAAAA, NT_167245.1:g.3990617_3990626delinsAAAAAAAA, NT_167245.1:g.3990617_3990626delinsAAAAAAAAA, NT_167245.1:g.3990617_3990626delinsAAAAAAAAAAA, NT_167245.1:g.3990617_3990626delinsAAAAAAAAAAAA, NT_167249.2:g.4140434_4140435del, NT_167249.2:g.4140435del, NT_167249.2:g.4140435dup, NT_167249.2:g.4140434_4140435dup, NT_167249.1:g.4139732_4139733del, NT_167249.1:g.4139733del, NT_167249.1:g.4139733dup, NT_167249.1:g.4139732_4139733dup, NT_167246.2:g.4159602_4159603del, NT_167246.2:g.4159603del, NT_167246.2:g.4159603dup, NT_167246.2:g.4159602_4159603dup, NT_167246.1:g.4165222_4165223del, NT_167246.1:g.4165223del, NT_167246.1:g.4165223dup, NT_167246.1:g.4165222_4165223dup, NT_167247.2:g.4039651_4039660delinsAAAAAAAAAA, NT_167247.2:g.4039651_4039660delinsAAAAAAAA, NT_167247.2:g.4039651_4039660delinsAAAAAAAAA, NT_167247.2:g.4039651_4039660delinsAAAAAAAAAAA, NT_167247.2:g.4039651_4039660delinsAAAAAAAAAAAA, NT_167247.1:g.4045236_4045245delinsAAAAAAAAAA, NT_167247.1:g.4045236_4045245delinsAAAAAAAA, NT_167247.1:g.4045236_4045245delinsAAAAAAAAA, NT_167247.1:g.4045236_4045245delinsAAAAAAAAAAA, NT_167247.1:g.4045236_4045245delinsAAAAAAAAAAAA, NT_167244.2:g.4046427_4046428del, NT_167244.2:g.4046428del, NT_167244.2:g.4046428dup, NT_167244.2:g.4046427_4046428dup, NT_167244.1:g.3996343_3996344del, NT_167244.1:g.3996344del, NT_167244.1:g.3996344dup, NT_167244.1:g.3996343_3996344dup

Select item 14906986204.

rs1490698620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:32740479 (GRCh38)
6:32708256 (GRCh37)
Canonical SPDI:: NC_000006.12:32740478:G:C,NC_000006.12:32740478:G:T
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32740479G>C, NC_000006.12:g.32740479G>T, NC_000006.11:g.32708256G>C, NC_000006.11:g.32708256G>T, NT_113891.3:g.4154053G>C, NT_113891.3:g.4154053G>T, NT_113891.2:g.4154159G>C, NT_113891.2:g.4154159G>T, NT_167248.2:g.3934743G>C, NT_167248.2:g.3934743G>T, NT_167248.1:g.3940339G>C, NT_167248.1:g.3940339G>T, NT_167245.2:g.3985234G>C, NT_167245.2:g.3985234G>T, NT_167245.1:g.3990819G>C, NT_167245.1:g.3990819G>T, NT_167249.2:g.4140626G>C, NT_167249.2:g.4140626G>T, NT_167249.1:g.4139924G>C, NT_167249.1:g.4139924G>T, NT_167246.2:g.4159794G>C, NT_167246.2:g.4159794G>T, NT_167246.1:g.4165414G>C, NT_167246.1:g.4165414G>T, NT_167247.2:g.4039853G>C, NT_167247.2:g.4039853G>T, NT_167247.1:g.4045438G>C, NT_167247.1:g.4045438G>T, NT_167244.2:g.4046619G>C, NT_167244.2:g.4046619G>T, NT_167244.1:g.3996535G>C, NT_167244.1:g.3996535G>T

Select item 14906706965.

rs1490670696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32743773 (GRCh38)
6:32711550 (GRCh37)
Canonical SPDI:: NC_000006.12:32743772:G:A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.32743773G>A, NC_000006.11:g.32711550G>A, NT_113891.3:g.4157345G>A, NT_113891.2:g.4157451G>A, NT_167248.2:g.3938040G>A, NT_167248.1:g.3943636G>A, NT_167245.2:g.3988526G>A, NT_167245.1:g.3994111G>A, NT_167249.2:g.4143920G>A, NT_167249.1:g.4143218G>A, NT_167246.2:g.4163091G>A, NT_167246.1:g.4168711G>A, NT_167247.2:g.4043145G>A, NT_167247.1:g.4048730G>A, NT_167244.2:g.4049911G>A, NT_167244.1:g.3999827G>A

Select item 14906198786.

rs1490619878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32744495 (GRCh38)
6:32712272 (GRCh37)
Canonical SPDI:: NC_000006.12:32744494:G:A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.32744495G>A, NC_000006.11:g.32712272G>A, NT_113891.3:g.4158067G>A, NT_113891.2:g.4158173G>A, NT_167248.2:g.3938764G>A, NT_167248.1:g.3944360G>A, NT_167245.2:g.3989251G>A, NT_167245.1:g.3994836G>A, NT_167249.2:g.4144642G>A, NT_167249.1:g.4143940G>A, NT_167246.2:g.4163815G>A, NT_167246.1:g.4169435G>A, NT_167247.2:g.4043869G>A, NT_167247.1:g.4049454G>A, NT_167244.2:g.4050633G>A, NT_167244.1:g.4000549G>A

Select item 14903367647.

rs1490336764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:32743017 (GRCh38)
6:32710794 (GRCh37)
Canonical SPDI:: NC_000006.12:32743016:C:A,NC_000006.12:32743016:C:T
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00006/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000006.12:g.32743017C>A, NC_000006.12:g.32743017C>T, NC_000006.11:g.32710794C>A, NC_000006.11:g.32710794C>T, NT_113891.3:g.4156589C>A, NT_113891.3:g.4156589C>T, NT_113891.2:g.4156695C>A, NT_113891.2:g.4156695C>T, NT_167248.2:g.3937281C>A, NT_167248.2:g.3937281C>T, NT_167248.1:g.3942877C>A, NT_167248.1:g.3942877C>T, NT_167245.2:g.3987767C>A, NT_167245.2:g.3987767C>T, NT_167245.1:g.3993352C>A, NT_167245.1:g.3993352C>T, NT_167249.2:g.4143164C>A, NT_167249.2:g.4143164C>T, NT_167249.1:g.4142462C>A, NT_167249.1:g.4142462C>T, NT_167246.2:g.4162332C>A, NT_167246.2:g.4162332C>T, NT_167246.1:g.4167952C>A, NT_167246.1:g.4167952C>T, NT_167247.2:g.4042386C>A, NT_167247.2:g.4042386C>T, NT_167247.1:g.4047971C>A, NT_167247.1:g.4047971C>T, NT_167244.2:g.4049155C>A, NT_167244.2:g.4049155C>T, NT_167244.1:g.3999071C>A, NT_167244.1:g.3999071C>T

Select item 14895311058.

rs1489531105 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTA>- [Show Flanks]
Chromosome:: 6:32743638 (GRCh38)
6:32711415 (GRCh37)
Canonical SPDI:: NC_000006.12:32743636:AGTA:A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00559/25 (ALFA)
-=0.00124/21 (TOMMO)
HGVS:: NC_000006.12:g.32743638_32743640del, NC_000006.11:g.32711415_32711417del, NT_113891.3:g.4157210_4157212del, NT_113891.2:g.4157316_4157318del, NT_167248.2:g.3937905_3937907del, NT_167248.1:g.3943501_3943503del, NT_167245.2:g.3988391_3988393del, NT_167245.1:g.3993976_3993978del, NT_167249.2:g.4143785_4143787del, NT_167249.1:g.4143083_4143085del, NT_167246.2:g.4162956_4162958del, NT_167246.1:g.4168576_4168578del, NT_167247.2:g.4043010_4043012del, NT_167247.1:g.4048595_4048597del, NT_167244.2:g.4049776_4049778del, NT_167244.1:g.3999692_3999694del

Select item 14892145239.

rs1489214523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32741916 (GRCh38)
6:32709693 (GRCh37)
Canonical SPDI:: NC_000006.12:32741915:A:G
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32741916A>G, NC_000006.11:g.32709693A>G, NT_113891.3:g.4155488A>G, NT_113891.2:g.4155594A>G, NT_167248.2:g.3936180A>G, NT_167248.1:g.3941776A>G, NT_167245.2:g.3986671A>G, NT_167245.1:g.3992256A>G, NT_167249.2:g.4142063A>G, NT_167249.1:g.4141361A>G, NT_167246.2:g.4161231A>G, NT_167246.1:g.4166851A>G, NT_167247.2:g.4041290A>G, NT_167247.1:g.4046875A>G, NT_167244.2:g.4048054A>G, NT_167244.1:g.3997970A>G

Select item 148881725110.

rs1488817251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:32742243 (GRCh38)
6:32710020 (GRCh37)
Canonical SPDI:: NC_000006.12:32742242:T:G
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32742243T>G, NC_000006.11:g.32710020T>G, NT_113891.3:g.4155815T>G, NT_113891.2:g.4155921T>G, NT_167248.2:g.3936507T>G, NT_167248.1:g.3942103T>G, NT_167245.2:g.3986998T>G, NT_167245.1:g.3992583T>G, NT_167249.2:g.4142390T>G, NT_167249.1:g.4141688T>G, NT_167246.2:g.4161558T>G, NT_167246.1:g.4167178T>G, NT_167247.2:g.4041617T>G, NT_167247.1:g.4047202T>G, NT_167244.2:g.4048381T>G, NT_167244.1:g.3998297T>G

Select item 148800503111.

rs1488005031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:32741226 (GRCh38)
6:32709003 (GRCh37)
Canonical SPDI:: NC_000006.12:32741225:A:C
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00076/9 (ALFA)
C=0.00492/139 (TOMMO)
C=0.00843/54 (1000Genomes)
HGVS:: NC_000006.12:g.32741226A>C, NC_000006.11:g.32709003A>C, NT_113891.3:g.4154798A>C, NT_113891.2:g.4154904A>C, NT_167248.2:g.3935490A>C, NT_167248.1:g.3941086A>C, NT_167245.2:g.3985981A>C, NT_167245.1:g.3991566A>C, NT_167249.2:g.4141373A>C, NT_167249.1:g.4140671A>C, NT_167246.2:g.4160541A>C, NT_167246.1:g.4166161A>C, NT_167247.2:g.4040600A>C, NT_167247.1:g.4046185A>C, NT_167244.2:g.4047364A>C, NT_167244.1:g.3997280A>C

Select item 148797846412.

rs1487978464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:32744648 (GRCh38)
6:32712425 (GRCh37)
Canonical SPDI:: NC_000006.12:32744647:C:A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32744648C>A, NC_000006.11:g.32712425C>A, NT_113891.3:g.4158220C>A, NT_113891.2:g.4158326C>A, NT_167248.2:g.3938917C>A, NT_167248.1:g.3944513C>A, NT_167245.2:g.3989404C>A, NT_167245.1:g.3994989C>A, NT_167249.2:g.4144795C>A, NT_167249.1:g.4144093C>A, NT_167246.2:g.4163968C>A, NT_167246.1:g.4169588C>A, NT_167247.2:g.4044022C>A, NT_167247.1:g.4049607C>A, NT_167244.2:g.4050786C>A, NT_167244.1:g.4000702C>A

Select item 148783104513.

rs1487831045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:32744434 (GRCh38)
6:32712211 (GRCh37)
Canonical SPDI:: NC_000006.12:32744433:A:C
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.32744434A>C, NC_000006.11:g.32712211A>C, NT_113891.3:g.4158006A>C, NT_113891.2:g.4158112A>C, NT_167248.2:g.3938703A>C, NT_167248.1:g.3944299A>C, NT_167245.2:g.3989190A>C, NT_167245.1:g.3994775A>C, NT_167249.2:g.4144581A>C, NT_167249.1:g.4143879A>C, NT_167246.2:g.4163754A>C, NT_167246.1:g.4169374A>C, NT_167247.2:g.4043808A>C, NT_167247.1:g.4049393A>C, NT_167244.2:g.4050572A>C, NT_167244.1:g.4000488A>C

Select item 148761044014.

rs1487610440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32742424 (GRCh38)
6:32710201 (GRCh37)
Canonical SPDI:: NC_000006.12:32742423:G:A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32742424G>A, NC_000006.11:g.32710201G>A, NT_113891.3:g.4155996G>A, NT_113891.2:g.4156102G>A, NT_167248.2:g.3936689G>A, NT_167248.1:g.3942285G>A, NT_167245.2:g.3987176G>A, NT_167245.1:g.3992761G>A, NT_167249.2:g.4142571G>A, NT_167249.1:g.4141869G>A, NT_167246.2:g.4161740G>A, NT_167246.1:g.4167360G>A, NT_167247.2:g.4041795G>A, NT_167247.1:g.4047380G>A, NT_167244.2:g.4048562G>A, NT_167244.1:g.3998478G>A

Select item 148734411915.

rs1487344119 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:32744244 (GRCh38)
6:32712021 (GRCh37)
Canonical SPDI:: NC_000006.12:32744243:AT:
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.32744244_32744245del, NC_000006.11:g.32712021_32712022del, NT_113891.3:g.4157816_4157817del, NT_113891.2:g.4157922_4157923del, NT_167248.2:g.3938511_3938512del, NT_167248.1:g.3944107_3944108del, NT_167245.2:g.3988997_3988998del, NT_167245.1:g.3994582_3994583del, NT_167249.2:g.4144391_4144392del, NT_167249.1:g.4143689_4143690del, NT_167246.2:g.4163562_4163563del, NT_167246.1:g.4169182_4169183del, NT_167247.2:g.4043616_4043617del, NT_167247.1:g.4049201_4049202del, NT_167244.2:g.4050382_4050383del, NT_167244.1:g.4000298_4000299del

Select item 148727855816.

rs1487278558 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:32744689 (GRCh38)
6:32712466 (GRCh37)
Canonical SPDI:: NC_000006.12:32744688:GG:
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00269/45 (TOMMO)
HGVS:: NC_000006.12:g.32744689_32744690del, NC_000006.11:g.32712466_32712467del, NT_113891.3:g.4158262_4158263del, NT_113891.2:g.4158368_4158369del, NT_167248.2:g.3938960_3938961del, NT_167248.1:g.3944556_3944557del, NT_167245.2:g.3989447_3989448del, NT_167245.1:g.3995032_3995033del, NT_167249.2:g.4144836_4144837del, NT_167249.1:g.4144134_4144135del, NT_167246.2:g.4164011_4164012del, NT_167246.1:g.4169631_4169632del, NT_167247.2:g.4044065_4044066del, NT_167247.1:g.4049650_4049651del, NT_167244.2:g.4050828_4050829del, NT_167244.1:g.4000744_4000745del

Select item 148727034617.

rs1487270346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32741040 (GRCh38)
6:32708817 (GRCh37)
Canonical SPDI:: NC_000006.12:32741039:C:T
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.32741040C>T, NC_000006.11:g.32708817C>T, NT_113891.3:g.4154612C>T, NT_113891.2:g.4154718C>T, NT_167248.2:g.3935304C>T, NT_167248.1:g.3940900C>T, NT_167245.2:g.3985795C>T, NT_167245.1:g.3991380C>T, NT_167249.2:g.4141187C>T, NT_167249.1:g.4140485C>T, NT_167246.2:g.4160355C>T, NT_167246.1:g.4165975C>T, NT_167247.2:g.4040414C>T, NT_167247.1:g.4045999C>T, NT_167244.2:g.4047178C>T, NT_167244.1:g.3997094C>T

Select item 148693159618.

rs1486931596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:32740720 (GRCh38)
6:32708497 (GRCh37)
Canonical SPDI:: NC_000006.12:32740719:A:C
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.32740720A>C, NC_000006.11:g.32708497A>C, NT_113891.3:g.4154294A>C, NT_113891.2:g.4154400A>C, NT_167248.2:g.3934984A>C, NT_167248.1:g.3940580A>C, NT_167245.2:g.3985475A>C, NT_167245.1:g.3991060A>C, NT_167249.2:g.4140867A>C, NT_167249.1:g.4140165A>C, NT_167246.2:g.4160035A>C, NT_167246.1:g.4165655A>C, NT_167247.2:g.4040094A>C, NT_167247.1:g.4045679A>C, NT_167244.2:g.4046860A>C, NT_167244.1:g.3996776A>C

Select item 148678912019.

rs1486789120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32739999 (GRCh38)
6:32707776 (GRCh37)
Canonical SPDI:: NC_000006.12:32739998:G:A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000064/17 (TOPMED)
A=0.000425/7 (TOMMO)
A=0.001369/4 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000006.12:g.32739999G>A, NC_000006.11:g.32707776G>A, NT_113891.3:g.4153250G>A, NT_113891.2:g.4153356G>A, NT_167248.2:g.3934262G>A, NT_167248.1:g.3939858G>A, NT_167245.2:g.3984754G>A, NT_167245.1:g.3990339G>A, NT_167249.2:g.4140146G>A, NT_167249.1:g.4139444G>A, NT_167246.2:g.4159313G>A, NT_167246.1:g.4164933G>A, NT_167247.2:g.4039373G>A, NT_167247.1:g.4044958G>A, NT_167244.2:g.4045816G>A, NT_167244.1:g.3995732G>A

Select item 148660819820.

rs1486608198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32740299 (GRCh38)
6:32708076 (GRCh37)
Canonical SPDI:: NC_000006.12:32740298:G:A
Gene:: HLA-DQA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32740299G>A, NC_000006.11:g.32708076G>A, NT_113891.3:g.4153873G>A, NT_113891.2:g.4153979G>A, NT_167248.2:g.3934563G>A, NT_167248.1:g.3940159G>A, NT_167245.2:g.3985054G>A, NT_167245.1:g.3990639G>A, NT_167249.2:g.4140446G>A, NT_167249.1:g.4139744G>A, NT_167246.2:g.4159614G>A, NT_167246.1:g.4165234G>A, NT_167247.2:g.4039673G>A, NT_167247.1:g.4045258G>A, NT_167244.2:g.4046439G>A, NT_167244.1:g.3996355G>A

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