SNP Links for Nucleotide (Select 236459349) - SNP

Links from Nucleotide

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Select item 14908226231.

rs1490822623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32817630 (GRCh38)
6:32785407 (GRCh37)
Canonical SPDI:: NC_000006.12:32817629:G:A
Gene:: HLA-DOB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32817630G>A, NC_000006.11:g.32785407G>A, NG_009793.4:g.26141C>T, NT_113891.3:g.4229831G>A, NT_113891.2:g.4229937G>A, NG_012008.1:g.4419C>T, NT_167244.2:g.4122654G>A, NT_167244.1:g.4072570G>A, NT_167247.2:g.4116718G>A, NT_167247.1:g.4122303G>A, NT_167245.2:g.4061348G>A, NT_167245.1:g.4066933G>A, NT_167249.2:g.4217042G>A, NT_167249.1:g.4216340G>A

Select item 14907299952.

rs1490729995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32819897 (GRCh38)
6:32787674 (GRCh37)
Canonical SPDI:: NC_000006.12:32819896:G:A
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.32819897G>A, NC_000006.11:g.32787674G>A, NG_009793.4:g.23874C>T, NT_113891.3:g.4232098G>A, NT_113891.2:g.4232204G>A, NG_012008.1:g.2152C>T, NT_167244.2:g.4124921G>A, NT_167244.1:g.4074837G>A, NT_167247.2:g.4118985G>A, NT_167247.1:g.4124570G>A, NT_167245.2:g.4063615G>A, NT_167245.1:g.4069200G>A, NT_167249.2:g.4219309G>A, NT_167249.1:g.4218607G>A

Select item 14905165253.

rs1490516525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:32813241 (GRCh38)
6:32781018 (GRCh37)
Canonical SPDI:: NC_000006.12:32813240:G:A,NC_000006.12:32813240:G:C
Gene:: HLA-DOB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32813241G>A, NC_000006.12:g.32813241G>C, NC_000006.11:g.32781018G>A, NC_000006.11:g.32781018G>C, NG_009793.4:g.30530C>T, NG_009793.4:g.30530C>G, NM_002120.4:c.797C>T, NM_002120.4:c.797C>G, NM_002120.3:c.797C>T, NM_002120.3:c.797C>G, NT_113891.3:g.4225442G>A, NT_113891.3:g.4225442G>C, NT_113891.2:g.4225548G>A, NT_113891.2:g.4225548G>C, NT_167244.2:g.4118265G>A, NT_167244.2:g.4118265G>C, NT_167244.1:g.4068181G>A, NT_167244.1:g.4068181G>C, NG_012008.1:g.8808C>T, NG_012008.1:g.8808C>G, NT_167249.2:g.4212653G>A, NT_167249.2:g.4212653G>C, NT_167249.1:g.4211951G>A, NT_167249.1:g.4211951G>C, NT_167247.2:g.4112334G>A, NT_167247.2:g.4112334G>C, NT_167247.1:g.4117919G>A, NT_167247.1:g.4117919G>C, NT_167245.2:g.4056959G>A, NT_167245.2:g.4056959G>C, NT_167245.1:g.4062544G>A, NT_167245.1:g.4062544G>C, NP_002111.1:p.Ala266Val, NP_002111.1:p.Ala266Gly

Select item 14903342884.

rs1490334288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32813969 (GRCh38)
6:32781746 (GRCh37)
Canonical SPDI:: NC_000006.12:32813968:G:A
Gene:: HLA-DOB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.32813969G>A, NC_000006.11:g.32781746G>A, NG_009793.4:g.29802C>T, NT_113891.3:g.4226170G>A, NT_113891.2:g.4226276G>A, NT_167244.2:g.4118993G>A, NT_167244.1:g.4068909G>A, NG_012008.1:g.8080C>T, NT_167249.2:g.4213381G>A, NT_167249.1:g.4212679G>A, NT_167247.2:g.4113062G>A, NT_167247.1:g.4118647G>A, NT_167245.2:g.4057687G>A, NT_167245.1:g.4063272G>A

Select item 14898185375.

rs1489818537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32815793 (GRCh38)
6:32783570 (GRCh37)
Canonical SPDI:: NC_000006.12:32815792:C:T
Gene:: HLA-DOB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32815793C>T, NC_000006.11:g.32783570C>T, NG_009793.4:g.27978G>A, NT_113891.3:g.4227994C>T, NT_113891.2:g.4228100C>T, NT_167244.2:g.4120817C>T, NT_167244.1:g.4070733C>T, NG_012008.1:g.6256G>A, NT_167249.2:g.4215205C>T, NT_167249.1:g.4214503C>T, NT_167247.2:g.4114886C>T, NT_167247.1:g.4120471C>T, NT_167245.2:g.4059511C>T, NT_167245.1:g.4065096C>T

Select item 14896063986.

rs1489606398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32813818 (GRCh38)
6:32781595 (GRCh37)
Canonical SPDI:: NC_000006.12:32813817:T:C
Gene:: HLA-DOB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32813818T>C, NC_000006.11:g.32781595T>C, NG_009793.4:g.29953A>G, NM_002120.4:c.659A>G, NM_002120.3:c.659A>G, NT_113891.3:g.4226019T>C, NT_113891.2:g.4226125T>C, NT_167244.2:g.4118842T>C, NT_167244.1:g.4068758T>C, NG_012008.1:g.8231A>G, NT_167249.2:g.4213230T>C, NT_167249.1:g.4212528T>C, NT_167247.2:g.4112911T>C, NT_167247.1:g.4118496T>C, NT_167245.2:g.4057536T>C, NT_167245.1:g.4063121T>C, NP_002111.1:p.Tyr220Cys

Select item 14895484757.

rs1489548475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32818164 (GRCh38)
6:32785941 (GRCh37)
Canonical SPDI:: NC_000006.12:32818163:G:A
Gene:: HLA-DOB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32818164G>A, NC_000006.11:g.32785941G>A, NG_009793.4:g.25607C>T, NT_113891.3:g.4230365G>A, NT_113891.2:g.4230471G>A, NG_012008.1:g.3885C>T, NT_167244.2:g.4123188G>A, NT_167244.1:g.4073104G>A, NT_167247.2:g.4117252G>A, NT_167247.1:g.4122837G>A, NT_167245.2:g.4061882G>A, NT_167245.1:g.4067467G>A, NT_167249.2:g.4217576G>A, NT_167249.1:g.4216874G>A

Select item 14894196728.

rs1489419672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:32821380 (GRCh38)
6:32789157 (GRCh37)
Canonical SPDI:: NC_000006.12:32821379:T:C,NC_000006.12:32821379:T:G
Gene:: TAP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.32821380T>C, NC_000006.12:g.32821380T>G, NC_000006.11:g.32789157T>C, NC_000006.11:g.32789157T>G, NG_009793.4:g.22391A>G, NG_009793.4:g.22391A>C, NT_113891.3:g.4233581T>C, NT_113891.3:g.4233581T>G, NT_113891.2:g.4233687T>C, NT_113891.2:g.4233687T>G, NG_012008.1:g.669A>G, NG_012008.1:g.669A>C, NT_167244.2:g.4126394T>C, NT_167244.2:g.4126394T>G, NT_167244.1:g.4076310T>C, NT_167244.1:g.4076310T>G, NT_167247.2:g.4120468T>C, NT_167247.2:g.4120468T>G, NT_167247.1:g.4126053T>C, NT_167247.1:g.4126053T>G, NT_167245.2:g.4065098T>C, NT_167245.2:g.4065098T>G, NT_167245.1:g.4070683T>C, NT_167245.1:g.4070683T>G, NT_167249.2:g.4220782T>C, NT_167249.2:g.4220782T>G, NT_167249.1:g.4220080T>C, NT_167249.1:g.4220080T>G, NT_167248.2:g.4015668T>C, NT_167248.2:g.4015668T>G, NT_167248.1:g.4021264T>C, NT_167248.1:g.4021264T>G, NT_167246.2:g.4240733T>C, NT_167246.2:g.4240733T>G, NT_167246.1:g.4246353T>C, NT_167246.1:g.4246353T>G

Select item 14892740239.

rs1489274023 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:32814516 (GRCh38)
6:32782294 (GRCh37)
Canonical SPDI:: NC_000006.12:32814516:T:TT
Gene:: HLA-DOB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32814517dup, NC_000006.11:g.32782294dup, NG_009793.4:g.29254dup, NM_002120.4:c.446dup, NM_002120.3:c.446dup, NT_113891.3:g.4226718dup, NT_113891.2:g.4226824dup, NT_167244.2:g.4119541dup, NT_167244.1:g.4069457dup, NG_012008.1:g.7532dup, NT_167249.2:g.4213929dup, NT_167249.1:g.4213227dup, NT_167247.2:g.4113610dup, NT_167247.1:g.4119195dup, NT_167245.2:g.4058235dup, NT_167245.1:g.4063820dup, NP_002111.1:p.Tyr149Ter

Select item 148891979810.

rs1488919798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32812855 (GRCh38)
6:32780632 (GRCh37)
Canonical SPDI:: NC_000006.12:32812854:A:G
Gene:: HLA-DOB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32812855A>G, NC_000006.11:g.32780632A>G, NG_009793.4:g.30916T>C, NM_002120.4:c.*361T>C, NM_002120.3:c.*361T>C, NT_113891.3:g.4225056A>G, NT_113891.2:g.4225162A>G, NT_167244.2:g.4117879A>G, NT_167244.1:g.4067795A>G, NG_012008.1:g.9194T>C, NT_167249.2:g.4212267A>G, NT_167249.1:g.4211565A>G, NT_167247.2:g.4111948A>G, NT_167247.1:g.4117533A>G, NT_167245.2:g.4056573A>G, NT_167245.1:g.4062158A>G

Select item 148827465111.

rs1488274651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32811428 (GRCh38)
6:32779205 (GRCh37)
Canonical SPDI:: NC_000006.12:32811427:G:A
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.32811428G>A, NC_000006.11:g.32779205G>A, NG_012008.1:g.10621C>T, NT_167247.2:g.4110521G>A, NT_167247.1:g.4116106G>A, NT_167246.2:g.4230781G>A, NT_167246.1:g.4236401G>A

Select item 148807116312.

rs1488071163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32821345 (GRCh38)
6:32789122 (GRCh37)
Canonical SPDI:: NC_000006.12:32821344:T:C
Gene:: TAP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32821345T>C, NC_000006.11:g.32789122T>C, NG_009793.4:g.22426A>G, NT_113891.3:g.4233546T>C, NT_113891.2:g.4233652T>C, NG_012008.1:g.704A>G, NT_167244.2:g.4126359T>C, NT_167244.1:g.4076275T>C, NT_167247.2:g.4120433T>C, NT_167247.1:g.4126018T>C, NT_167245.2:g.4065063T>C, NT_167245.1:g.4070648T>C, NT_167249.2:g.4220747T>C, NT_167249.1:g.4220045T>C, NT_167248.2:g.4015633T>C, NT_167248.1:g.4021229T>C, NT_167246.2:g.4240698T>C, NT_167246.1:g.4246318T>C

Select item 148778817013.

rs1487788170 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTGTG>- [Show Flanks]
Chromosome:: 6:32820788 (GRCh38)
6:32788565 (GRCh37)
Canonical SPDI:: NC_000006.12:32820782:GTGTGCGTGTG:GTGTG
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.32820788_32820793del, NC_000006.11:g.32788565_32788570del, NG_009793.4:g.22983_22988del, NT_113891.3:g.4232989_4232994del, NT_113891.2:g.4233095_4233100del, NG_012008.1:g.1261_1266del, NT_167244.2:g.4125812_4125817del, NT_167244.1:g.4075728_4075733del, NT_167247.2:g.4119876_4119881del, NT_167247.1:g.4125461_4125466del, NT_167245.2:g.4064506_4064511del, NT_167245.1:g.4070091_4070096del, NT_167249.2:g.4220200_4220205del, NT_167249.1:g.4219498_4219503del, NT_167248.2:g.4015076_4015081del, NT_167248.1:g.4020672_4020677del, NT_167246.2:g.4240141_4240146del, NT_167246.1:g.4245761_4245766del

Select item 148758729914.

rs1487587299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32812989 (GRCh38)
6:32780766 (GRCh37)
Canonical SPDI:: NC_000006.12:32812988:C:T
Gene:: HLA-DOB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32812989C>T, NC_000006.11:g.32780766C>T, NG_009793.4:g.30782G>A, NM_002120.4:c.*227G>A, NM_002120.3:c.*227G>A, NT_113891.3:g.4225190C>T, NT_113891.2:g.4225296C>T, NT_167244.2:g.4118013C>T, NT_167244.1:g.4067929C>T, NG_012008.1:g.9060G>A, NT_167249.2:g.4212401C>T, NT_167249.1:g.4211699C>T, NT_167247.2:g.4112082C>T, NT_167247.1:g.4117667C>T, NT_167245.2:g.4056707C>T, NT_167245.1:g.4062292C>T

Select item 148736182415.

rs1487361824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32811802 (GRCh38)
6:32779579 (GRCh37)
Canonical SPDI:: NC_000006.12:32811801:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.32811802T>C, NC_000006.11:g.32779579T>C, NG_009793.4:g.31969A>G, NT_167247.2:g.4110895T>C, NT_167247.1:g.4116480T>C, NG_012008.1:g.10247A>G, NT_167246.2:g.4231155T>C, NT_167246.1:g.4236775T>C

Select item 148719609816.

rs1487196098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:32813348 (GRCh38)
6:32781125 (GRCh37)
Canonical SPDI:: NC_000006.12:32813347:C:A,NC_000006.12:32813347:C:G
Gene:: HLA-DOB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.32813348C>A, NC_000006.12:g.32813348C>G, NC_000006.11:g.32781125C>A, NC_000006.11:g.32781125C>G, NG_009793.4:g.30423G>T, NG_009793.4:g.30423G>C, NT_113891.3:g.4225549C>A, NT_113891.3:g.4225549C>G, NT_113891.2:g.4225655C>A, NT_113891.2:g.4225655C>G, NT_167244.2:g.4118372C>A, NT_167244.2:g.4118372C>G, NT_167244.1:g.4068288C>A, NT_167244.1:g.4068288C>G, NG_012008.1:g.8701G>T, NG_012008.1:g.8701G>C, NT_167249.2:g.4212760C>A, NT_167249.2:g.4212760C>G, NT_167249.1:g.4212058C>A, NT_167249.1:g.4212058C>G, NT_167247.2:g.4112441C>A, NT_167247.2:g.4112441C>G, NT_167247.1:g.4118026C>A, NT_167247.1:g.4118026C>G, NT_167245.2:g.4057066C>A, NT_167245.2:g.4057066C>G, NT_167245.1:g.4062651C>A, NT_167245.1:g.4062651C>G

Select item 148693408817.

rs1486934088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32811836 (GRCh38)
6:32779613 (GRCh37)
Canonical SPDI:: NC_000006.12:32811835:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.32811836A>G, NC_000006.11:g.32779613A>G, NG_009793.4:g.31935T>C, NT_167247.2:g.4110929A>G, NT_167247.1:g.4116514A>G, NG_012008.1:g.10213T>C, NT_167246.2:g.4231189A>G, NT_167246.1:g.4236809A>G

Select item 148654458818.

rs1486544588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32822043 (GRCh38)
6:32789820 (GRCh37)
Canonical SPDI:: NC_000006.12:32822042:C:T
Gene:: TAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000006.12:g.32822043C>T, NC_000006.11:g.32789820C>T, NG_009793.4:g.21728G>A, NM_018833.3:c.*246G>A, NM_018833.2:c.*246G>A, NT_113891.3:g.4234244C>T, NT_113891.2:g.4234350C>T, NG_012008.1:g.6G>A, NT_167247.2:g.4121131C>T, NT_167247.1:g.4126716C>T, NT_167245.2:g.4065761C>T, NT_167245.1:g.4071346C>T, NT_167244.2:g.4127057C>T, NT_167244.1:g.4076973C>T, NT_167249.2:g.4221445C>T, NT_167249.1:g.4220743C>T, NT_167248.2:g.4016331C>T, NT_167248.1:g.4021927C>T, NT_167246.2:g.4241396C>T, NT_167246.1:g.4247016C>T

Select item 148646839719.

rs1486468397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32818489 (GRCh38)
6:32786266 (GRCh37)
Canonical SPDI:: NC_000006.12:32818488:A:G
Gene:: HLA-DOB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.32818489A>G, NC_000006.11:g.32786266A>G, NG_009793.4:g.25282T>C, NT_113891.3:g.4230690A>G, NT_113891.2:g.4230796A>G, NG_012008.1:g.3560T>C, NT_167244.2:g.4123513A>G, NT_167244.1:g.4073429A>G, NT_167247.2:g.4117577A>G, NT_167247.1:g.4123162A>G, NT_167245.2:g.4062207A>G, NT_167245.1:g.4067792A>G, NT_167249.2:g.4217901A>G, NT_167249.1:g.4217199A>G

Select item 148633269220.

rs1486332692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32815812 (GRCh38)
6:32783589 (GRCh37)
Canonical SPDI:: NC_000006.12:32815811:A:G
Gene:: HLA-DOB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.32815812A>G, NC_000006.11:g.32783589A>G, NG_009793.4:g.27959T>C, NT_113891.3:g.4228013A>G, NT_113891.2:g.4228119A>G, NT_167244.2:g.4120836A>G, NT_167244.1:g.4070752A>G, NG_012008.1:g.6237T>C, NT_167249.2:g.4215224A>G, NT_167249.1:g.4214522A>G, NT_167247.2:g.4114905A>G, NT_167247.1:g.4120490A>G, NT_167245.2:g.4059530A>G, NT_167245.1:g.4065115A>G

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