SNP Links for Gene (Select 3111) - SNP

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Select item 14909980191.

rs1490998019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33005509 (GRCh38)
6:32973286 (GRCh37)
Canonical SPDI:: NC_000006.12:33005508:G:C
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.33005509G>C, NC_000006.11:g.32973286G>C, NG_012007.1:g.9104C>G, NM_002119.4:c.*1329C>G, NM_002119.3:c.*1329C>G, NG_046888.1:g.2937G>C, NT_113891.3:g.4417677G>C, NT_113891.2:g.4417783G>C, NT_167247.2:g.4304564G>C, NT_167247.1:g.4310149G>C, NT_167248.2:g.4199783G>C, NT_167248.1:g.4205379G>C, NT_167249.2:g.4454704G>C, NT_167249.1:g.4454002G>C, NT_167245.2:g.4249050G>C, NT_167245.1:g.4254635G>C, NT_167246.2:g.4424858G>C, NT_167246.1:g.4430478G>C

Select item 14907841342.

rs1490784134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33008290 (GRCh38)
6:32976067 (GRCh37)
Canonical SPDI:: NC_000006.12:33008289:G:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.33008290G>A, NC_000006.11:g.32976067G>A, NG_012007.1:g.6323C>T, NT_113891.3:g.4420458G>A, NT_113891.2:g.4420564G>A, NT_167247.2:g.4307345G>A, NT_167247.1:g.4312930G>A, NT_167248.2:g.4202564G>A, NT_167248.1:g.4208160G>A, NT_167249.2:g.4457484G>A, NT_167249.1:g.4456782G>A, NT_167245.2:g.4251830G>A, NT_167245.1:g.4257415G>A, NT_167246.2:g.4427638G>A, NT_167246.1:g.4433258G>A

Select item 14907172583.

rs1490717258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33004643 (GRCh38)
6:32972420 (GRCh37)
Canonical SPDI:: NC_000006.12:33004642:C:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33004643C>A, NC_000006.11:g.32972420C>A, NG_012007.1:g.9970G>T, NM_002119.4:c.*2195G>T, NM_002119.3:c.*2195G>T, NG_046888.1:g.2071C>A, NT_113891.3:g.4416811C>A, NT_113891.2:g.4416917C>A, NT_167247.2:g.4303698C>A, NT_167247.1:g.4309283C>A, NT_167248.2:g.4198917C>A, NT_167248.1:g.4204513C>A, NT_167249.2:g.4453838C>A, NT_167249.1:g.4453136C>A, NT_167245.2:g.4248184C>A, NT_167245.1:g.4253769C>A, NT_167246.2:g.4423992C>A, NT_167246.1:g.4429612C>A

Select item 14906665624.

rs1490666562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33005654 (GRCh38)
6:32973431 (GRCh37)
Canonical SPDI:: NC_000006.12:33005653:T:G
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33005654T>G, NC_000006.11:g.32973431T>G, NG_012007.1:g.8959A>C, NM_002119.4:c.*1184A>C, NM_002119.3:c.*1184A>C, NG_046888.1:g.3082T>G, NT_113891.3:g.4417822T>G, NT_113891.2:g.4417928T>G, NT_167247.2:g.4304709T>G, NT_167247.1:g.4310294T>G, NT_167248.2:g.4199928T>G, NT_167248.1:g.4205524T>G, NT_167249.2:g.4454849T>G, NT_167249.1:g.4454147T>G, NT_167245.2:g.4249195T>G, NT_167245.1:g.4254780T>G, NT_167246.2:g.4425003T>G, NT_167246.1:g.4430623T>G

Select item 14905089135.

rs1490508913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33006449 (GRCh38)
6:32974226 (GRCh37)
Canonical SPDI:: NC_000006.12:33006448:A:G
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33006449A>G, NC_000006.11:g.32974226A>G, NG_012007.1:g.8164T>C, NM_002119.4:c.*389T>C, NM_002119.3:c.*389T>C, NG_046888.1:g.3877A>G, NT_113891.3:g.4418617A>G, NT_113891.2:g.4418723A>G, NT_167247.2:g.4305504A>G, NT_167247.1:g.4311089A>G, NT_167248.2:g.4200723A>G, NT_167248.1:g.4206319A>G, NT_167249.2:g.4455643A>G, NT_167249.1:g.4454941A>G, NT_167245.2:g.4249989A>G, NT_167245.1:g.4255574A>G, NT_167246.2:g.4425797A>G, NT_167246.1:g.4431417A>G

Select item 14903301786.

rs1490330178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33009539 (GRCh38)
6:32977316 (GRCh37)
Canonical SPDI:: NC_000006.12:33009538:C:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33009539C>A, NC_000006.11:g.32977316C>A, NG_012007.1:g.5074G>T, NM_002119.4:c.-3G>T, NM_002119.3:c.-3G>T, NG_046886.1:g.967C>A, NT_113891.3:g.4421707C>A, NT_113891.2:g.4421813C>A, NT_167247.2:g.4308594C>A, NT_167247.1:g.4314179C>A, NT_167248.2:g.4203813C>A, NT_167248.1:g.4209409C>A, NT_167249.2:g.4458733C>A, NT_167249.1:g.4458031C>A, NT_167245.2:g.4253079C>A, NT_167245.1:g.4258664C>A, NT_167246.2:g.4428887C>A, NT_167246.1:g.4434507C>A

Select item 14900769477.

rs1490076947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:33010934 (GRCh38)
6:32978711 (GRCh37)
Canonical SPDI:: NC_000006.12:33010933:T:A,NC_000006.12:33010933:T:C,NC_000006.12:33010933:T:G
Gene:: HLA-DOA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.33010934T>A, NC_000006.12:g.33010934T>C, NC_000006.12:g.33010934T>G, NC_000006.11:g.32978711T>A, NC_000006.11:g.32978711T>C, NC_000006.11:g.32978711T>G, NG_012007.1:g.3679A>T, NG_012007.1:g.3679A>G, NG_012007.1:g.3679A>C, NG_046886.1:g.2362T>A, NG_046886.1:g.2362T>C, NG_046886.1:g.2362T>G, NT_113891.3:g.4423102T>A, NT_113891.3:g.4423102T>C, NT_113891.3:g.4423102T>G, NT_113891.2:g.4423208T>A, NT_113891.2:g.4423208T>C, NT_113891.2:g.4423208T>G, NT_167247.2:g.4309989T>A, NT_167247.2:g.4309989T>C, NT_167247.2:g.4309989T>G, NT_167247.1:g.4315574T>A, NT_167247.1:g.4315574T>C, NT_167247.1:g.4315574T>G, NT_167248.2:g.4205208T>A, NT_167248.2:g.4205208T>C, NT_167248.2:g.4205208T>G, NT_167248.1:g.4210804T>A, NT_167248.1:g.4210804T>C, NT_167248.1:g.4210804T>G, NT_167249.2:g.4460128T>A, NT_167249.2:g.4460128T>C, NT_167249.2:g.4460128T>G, NT_167249.1:g.4459426T>A, NT_167249.1:g.4459426T>C, NT_167249.1:g.4459426T>G, NT_167245.2:g.4254474T>A, NT_167245.2:g.4254474T>C, NT_167245.2:g.4254474T>G, NT_167245.1:g.4260059T>A, NT_167245.1:g.4260059T>C, NT_167245.1:g.4260059T>G, NT_167246.2:g.4430282T>A, NT_167246.2:g.4430282T>C, NT_167246.2:g.4430282T>G, NT_167246.1:g.4435902T>A, NT_167246.1:g.4435902T>C, NT_167246.1:g.4435902T>G

Select item 14890550108.

rs1489055010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33009765 (GRCh38)
6:32977542 (GRCh37)
Canonical SPDI:: NC_000006.12:33009764:T:G
Gene:: HLA-DOA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33009765T>G, NC_000006.11:g.32977542T>G, NG_012007.1:g.4848A>C, NG_046886.1:g.1193T>G, NT_113891.3:g.4421933T>G, NT_113891.2:g.4422039T>G, NT_167247.2:g.4308820T>G, NT_167247.1:g.4314405T>G, NT_167248.2:g.4204039T>G, NT_167248.1:g.4209635T>G, NT_167249.2:g.4458959T>G, NT_167249.1:g.4458257T>G, NT_167245.2:g.4253305T>G, NT_167245.1:g.4258890T>G, NT_167246.2:g.4429113T>G, NT_167246.1:g.4434733T>G

Select item 14882588569.

rs1488258856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33008376 (GRCh38)
6:32976153 (GRCh37)
Canonical SPDI:: NC_000006.12:33008375:C:T
Gene:: HLA-DOA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.33008376C>T, NC_000006.11:g.32976153C>T, NG_012007.1:g.6237G>A, NT_113891.3:g.4420544C>T, NT_113891.2:g.4420650C>T, NT_167247.2:g.4307431C>T, NT_167247.1:g.4313016C>T, NT_167248.2:g.4202650C>T, NT_167248.1:g.4208246C>T, NT_167249.2:g.4457570C>T, NT_167249.1:g.4456868C>T, NT_167245.2:g.4251916C>T, NT_167245.1:g.4257501C>T, NT_167246.2:g.4427724C>T, NT_167246.1:g.4433344C>T

Select item 148727549410.

rs1487275494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:33008227 (GRCh38)
6:32976004 (GRCh37)
Canonical SPDI:: NC_000006.12:33008226:G:A,NC_000006.12:33008226:G:T
Gene:: HLA-DOA (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33008227G>A, NC_000006.12:g.33008227G>T, NC_000006.11:g.32976004G>A, NC_000006.11:g.32976004G>T, NG_012007.1:g.6386C>T, NG_012007.1:g.6386C>A, NM_002119.4:c.117C>T, NM_002119.4:c.117C>A, NM_002119.3:c.117C>T, NM_002119.3:c.117C>A, NT_113891.3:g.4420395G>A, NT_113891.3:g.4420395G>T, NT_113891.2:g.4420501G>A, NT_113891.2:g.4420501G>T, NT_167247.2:g.4307282G>A, NT_167247.2:g.4307282G>T, NT_167247.1:g.4312867G>A, NT_167247.1:g.4312867G>T, NT_167248.2:g.4202501G>A, NT_167248.2:g.4202501G>T, NT_167248.1:g.4208097G>A, NT_167248.1:g.4208097G>T, NT_167249.2:g.4457421G>A, NT_167249.2:g.4457421G>T, NT_167249.1:g.4456719G>A, NT_167249.1:g.4456719G>T, NT_167245.2:g.4251767G>A, NT_167245.2:g.4251767G>T, NT_167245.1:g.4257352G>A, NT_167245.1:g.4257352G>T, NT_167246.2:g.4427575G>A, NT_167246.2:g.4427575G>T, NT_167246.1:g.4433195G>A, NT_167246.1:g.4433195G>T, NP_002110.1:p.Tyr39Ter

Select item 148670414411.

rs1486704144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33004093 (GRCh38)
6:32971870 (GRCh37)
Canonical SPDI:: NC_000006.12:33004092:G:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33004093G>A, NC_000006.11:g.32971870G>A, NG_012007.1:g.10520C>T, NG_046888.1:g.1521G>A, NT_113891.3:g.4416261G>A, NT_113891.2:g.4416367G>A, NT_167247.2:g.4303148G>A, NT_167247.1:g.4308733G>A, NT_167248.2:g.4198367G>A, NT_167248.1:g.4203963G>A, NT_167249.2:g.4453288G>A, NT_167249.1:g.4452586G>A, NT_167245.2:g.4247634G>A, NT_167245.1:g.4253219G>A, NT_167246.2:g.4423442G>A, NT_167246.1:g.4429062G>A

Select item 148650231312.

rs1486502313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33009010 (GRCh38)
6:32976787 (GRCh37)
Canonical SPDI:: NC_000006.12:33009009:A:G
Gene:: HLA-DOA (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.33009010A>G, NC_000006.11:g.32976787A>G, NG_012007.1:g.5603T>C, NG_046886.1:g.438A>G, NT_113891.3:g.4421178A>G, NT_113891.2:g.4421284A>G, NT_167247.2:g.4308065A>G, NT_167247.1:g.4313650A>G, NT_167248.2:g.4203284A>G, NT_167248.1:g.4208880A>G, NT_167249.2:g.4458204A>G, NT_167249.1:g.4457502A>G, NT_167245.2:g.4252550A>G, NT_167245.1:g.4258135A>G, NT_167246.2:g.4428358A>G, NT_167246.1:g.4433978A>G

Select item 148596599813.

rs1485965998 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGC [Show Flanks]
Chromosome:: 6:33005169 (GRCh38)
6:32972947 (GRCh37)
Canonical SPDI:: NC_000006.12:33005169:GCTGC:GCTGCTGC
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGCTGC=0./0 (ALFA)
GCT=0.000004/1 (TOPMED)
GCT=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33005172_33005174dup, NC_000006.11:g.32972949_32972951dup, NG_012007.1:g.9441_9443dup, NM_002119.4:c.*1666_*1668dup, NM_002119.3:c.*1666_*1668dup, NG_046888.1:g.2600_2602dup, NT_113891.3:g.4417340_4417342dup, NT_113891.2:g.4417446_4417448dup, NT_167247.2:g.4304227_4304229dup, NT_167247.1:g.4309812_4309814dup, NT_167248.2:g.4199446_4199448dup, NT_167248.1:g.4205042_4205044dup, NT_167249.2:g.4454367_4454369dup, NT_167249.1:g.4453665_4453667dup, NT_167245.2:g.4248713_4248715dup, NT_167245.1:g.4254298_4254300dup, NT_167246.2:g.4424521_4424523dup, NT_167246.1:g.4430141_4430143dup

Select item 148569746114.

rs1485697461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33010555 (GRCh38)
6:32978332 (GRCh37)
Canonical SPDI:: NC_000006.12:33010554:G:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33010555G>A, NC_000006.11:g.32978332G>A, NG_012007.1:g.4058C>T, NG_046886.1:g.1983G>A, NT_113891.3:g.4422723G>A, NT_113891.2:g.4422829G>A, NT_167247.2:g.4309610G>A, NT_167247.1:g.4315195G>A, NT_167248.2:g.4204829G>A, NT_167248.1:g.4210425G>A, NT_167249.2:g.4459749G>A, NT_167249.1:g.4459047G>A, NT_167245.2:g.4254095G>A, NT_167245.1:g.4259680G>A, NT_167246.2:g.4429903G>A, NT_167246.1:g.4435523G>A

Select item 148489026015.

rs1484890260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33007109 (GRCh38)
6:32974886 (GRCh37)
Canonical SPDI:: NC_000006.12:33007108:G:C
Gene:: HLA-DOA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33007109G>C, NC_000006.11:g.32974886G>C, NG_012007.1:g.7504C>G, NM_002119.4:c.720C>G, NM_002119.3:c.720C>G, NT_113891.3:g.4419277G>C, NT_113891.2:g.4419383G>C, NT_167247.2:g.4306164G>C, NT_167247.1:g.4311749G>C, NT_167248.2:g.4201383G>C, NT_167248.1:g.4206979G>C, NT_167249.2:g.4456303G>C, NT_167249.1:g.4455601G>C, NT_167245.2:g.4250649G>C, NT_167245.1:g.4256234G>C, NT_167246.2:g.4426457G>C, NT_167246.1:g.4432077G>C, NP_002110.1:p.Ile240Met

Select item 148437942816.

rs1484379428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33005934 (GRCh38)
6:32973711 (GRCh37)
Canonical SPDI:: NC_000006.12:33005933:G:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.33005934G>A, NC_000006.11:g.32973711G>A, NG_012007.1:g.8679C>T, NM_002119.4:c.*904C>T, NM_002119.3:c.*904C>T, NG_046888.1:g.3362G>A, NT_113891.3:g.4418102G>A, NT_113891.2:g.4418208G>A, NT_167247.2:g.4304989G>A, NT_167247.1:g.4310574G>A, NT_167248.2:g.4200208G>A, NT_167248.1:g.4205804G>A, NT_167249.2:g.4455129G>A, NT_167249.1:g.4454427G>A, NT_167245.2:g.4249475G>A, NT_167245.1:g.4255060G>A, NT_167246.2:g.4425283G>A, NT_167246.1:g.4430903G>A

Select item 148281234317.

rs1482812343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33007047 (GRCh38)
6:32974824 (GRCh37)
Canonical SPDI:: NC_000006.12:33007046:C:T
Gene:: HLA-DOA (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.33007047C>T, NC_000006.11:g.32974824C>T, NG_012007.1:g.7566G>A, NT_113891.3:g.4419215C>T, NT_113891.2:g.4419321C>T, NT_167247.2:g.4306102C>T, NT_167247.1:g.4311687C>T, NT_167248.2:g.4201321C>T, NT_167248.1:g.4206917C>T, NT_167249.2:g.4456241C>T, NT_167249.1:g.4455539C>T, NT_167245.2:g.4250587C>T, NT_167245.1:g.4256172C>T, NT_167246.2:g.4426395C>T, NT_167246.1:g.4432015C>T

Select item 148280327218.

rs1482803272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33005189 (GRCh38)
6:32972966 (GRCh37)
Canonical SPDI:: NC_000006.12:33005188:G:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.33005189G>A, NC_000006.11:g.32972966G>A, NG_012007.1:g.9424C>T, NM_002119.4:c.*1649C>T, NM_002119.3:c.*1649C>T, NG_046888.1:g.2617G>A, NT_113891.3:g.4417357G>A, NT_113891.2:g.4417463G>A, NT_167247.2:g.4304244G>A, NT_167247.1:g.4309829G>A, NT_167248.2:g.4199463G>A, NT_167248.1:g.4205059G>A, NT_167249.2:g.4454384G>A, NT_167249.1:g.4453682G>A, NT_167245.2:g.4248730G>A, NT_167245.1:g.4254315G>A, NT_167246.2:g.4424538G>A, NT_167246.1:g.4430158G>A

Select item 148255857419.

rs1482558574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33006525 (GRCh38)
6:32974302 (GRCh37)
Canonical SPDI:: NC_000006.12:33006524:C:A
Gene:: HLA-DOA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33006525C>A, NC_000006.11:g.32974302C>A, NG_012007.1:g.8088G>T, NM_002119.4:c.*313G>T, NM_002119.3:c.*313G>T, NT_113891.3:g.4418693C>A, NT_113891.2:g.4418799C>A, NT_167247.2:g.4305580C>A, NT_167247.1:g.4311165C>A, NT_167248.2:g.4200799C>A, NT_167248.1:g.4206395C>A, NT_167249.2:g.4455719C>A, NT_167249.1:g.4455017C>A, NT_167245.2:g.4250065C>A, NT_167245.1:g.4255650C>A, NT_167246.2:g.4425873C>A, NT_167246.1:g.4431493C>A

Select item 148229309820.

rs1482293098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33010706 (GRCh38)
6:32978483 (GRCh37)
Canonical SPDI:: NC_000006.12:33010705:T:C
Gene:: HLA-DOA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.33010706T>C, NC_000006.11:g.32978483T>C, NG_012007.1:g.3907A>G, NG_046886.1:g.2134T>C, NT_113891.3:g.4422874T>C, NT_113891.2:g.4422980T>C, NT_167247.2:g.4309761T>C, NT_167247.1:g.4315346T>C, NT_167248.2:g.4204980T>C, NT_167248.1:g.4210576T>C, NT_167249.2:g.4459900T>C, NT_167249.1:g.4459198T>C, NT_167245.2:g.4254246T>C, NT_167245.1:g.4259831T>C, NT_167246.2:g.4430054T>C, NT_167246.1:g.4435674T>C

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