SNP Links for Gene (Select 100874031) - SNP

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Select item 14903224131.

rs1490322413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:27050895 (GRCh38)
2:27273763 (GRCh37)
Canonical SPDI:: NC_000002.12:27050894:A:C,NC_000002.12:27050894:A:G
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.27050895A>C, NC_000002.12:g.27050895A>G, NC_000002.11:g.27273763A>C, NC_000002.11:g.27273763A>G, NG_052914.1:g.4473A>C, NG_052914.1:g.4473A>G, NG_076894.1:g.35A>C, NG_076894.1:g.35A>G

Select item 14901387432.

rs1490138743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27049405 (GRCh38)
2:27272273 (GRCh37)
Canonical SPDI:: NC_000002.12:27049404:T:A
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_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_000002.12:g.27049405T>A, NC_000002.11:g.27272273T>A, NG_052914.1:g.2983T>A

Select item 14888885643.

rs1488888564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCAGCATC>- [Show Flanks]
Chromosome:: 2:27050759 (GRCh38)
2:27273627 (GRCh37)
Canonical SPDI:: NC_000002.12:27050755:ATCAGCAGCATC:ATC
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATC=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.27050759_27050767del, NC_000002.11:g.27273627_27273635del, NG_052914.1:g.4337_4345del

Select item 14887551214.

rs1488755121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27050966 (GRCh38)
2:27273834 (GRCh37)
Canonical SPDI:: NC_000002.12:27050965:G:C
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27050966G>C, NC_000002.11:g.27273834G>C, NG_052914.1:g.4544G>C, NG_076894.1:g.106G>C

Select item 14886591745.

rs1488659174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27052187 (GRCh38)
2:27275055 (GRCh37)
Canonical SPDI:: NC_000002.12:27052186:A:G
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27052187A>G, NC_000002.11:g.27275055A>G, NG_052914.1:g.5765A>G

Select item 14875987926.

rs1487598792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:27051004 (GRCh38)
2:27273872 (GRCh37)
Canonical SPDI:: NC_000002.12:27051003:G:A,NC_000002.12:27051003:G:T
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.27051004G>A, NC_000002.12:g.27051004G>T, NC_000002.11:g.27273872G>A, NC_000002.11:g.27273872G>T, NG_052914.1:g.4582G>A, NG_052914.1:g.4582G>T, NG_076894.1:g.144G>A, NG_076894.1:g.144G>T

Select item 14875881597.

rs1487588159 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:27049745 (GRCh38)
2:27272613 (GRCh37)
Canonical SPDI:: NC_000002.12:27049741:ACACA:ACA
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27049743CA[1], NC_000002.11:g.27272611CA[1], NG_052914.1:g.3321CA[1], NR_046730.1:n.345GT[1]

Select item 14871983928.

rs1487198392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27050424 (GRCh38)
2:27273292 (GRCh37)
Canonical SPDI:: NC_000002.12:27050423:C:T
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.27050424C>T, NC_000002.11:g.27273292C>T, NG_052914.1:g.4002C>T, XM_047445376.1:c.-196C>T

Select item 14863444699.

rs1486344469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27051095 (GRCh38)
2:27273963 (GRCh37)
Canonical SPDI:: NC_000002.12:27051094:C:G
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.27051095C>G, NC_000002.11:g.27273963C>G, NG_052914.1:g.4673C>G, NG_076894.1:g.235C>G

Select item 148539119810.

rs1485391198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27051548 (GRCh38)
2:27274416 (GRCh37)
Canonical SPDI:: NC_000002.12:27051547:C:A,NC_000002.12:27051547:C:T
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.27051548C>A, NC_000002.12:g.27051548C>T, NC_000002.11:g.27274416C>A, NC_000002.11:g.27274416C>T, NG_052914.1:g.5126C>A, NG_052914.1:g.5126C>T, NR_138023.2:n.126C>A, NR_138023.2:n.126C>T, NR_138023.1:n.126C>A, NR_138023.1:n.126C>T, XM_011533011.4:c.-53C>A, XM_011533011.4:c.-53C>T, XM_011533011.3:c.-53C>A, XM_011533011.3:c.-53C>T, XM_011533011.2:c.-53C>A, XM_011533011.2:c.-53C>T, XM_011533011.1:c.-53C>A, XM_011533011.1:c.-53C>T, XM_047445377.1:c.-53C>A, XM_047445377.1:c.-53C>T, XM_047445376.1:c.-53C>A, XM_047445376.1:c.-53C>T

Select item 148522994411.

rs1485229944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:27051737 (GRCh38)
2:27274605 (GRCh37)
Canonical SPDI:: NC_000002.12:27051736:G:A,NC_000002.12:27051736:G:T
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27051737G>A, NC_000002.12:g.27051737G>T, NC_000002.11:g.27274605G>A, NC_000002.11:g.27274605G>T, NG_052914.1:g.5315G>A, NG_052914.1:g.5315G>T, NM_021831.6:c.-103G>A, NM_021831.6:c.-103G>T, NM_021831.5:c.-103G>A, NM_021831.5:c.-103G>T, NM_001035507.3:c.-103G>A, NM_001035507.3:c.-103G>T, NM_001035507.2:c.-103G>A, NM_001035507.2:c.-103G>T, NR_104246.2:n.70G>A, NR_104246.2:n.70G>T, NR_104246.1:n.115G>A, NR_104246.1:n.115G>T, XM_005264477.4:c.-103G>A, XM_005264477.4:c.-103G>T, XM_005264477.3:c.-103G>A, XM_005264477.3:c.-103G>T, XM_005264477.2:c.-103G>A, XM_005264477.2:c.-103G>T, XM_005264477.1:c.-103G>A, XM_005264477.1:c.-103G>T, XM_011533012.3:c.-314G>A, XM_011533012.3:c.-314G>T, XM_011533012.2:c.-314G>A, XM_011533012.2:c.-314G>T, XM_011533012.1:c.-314G>A, XM_011533012.1:c.-314G>T, XM_011533013.3:c.-110G>A, XM_011533013.3:c.-110G>T, XM_011533013.2:c.-110G>A, XM_011533013.2:c.-110G>T, XM_011533013.1:c.-110G>A, XM_011533013.1:c.-110G>T, XM_047445375.1:c.-314G>A, XM_047445375.1:c.-314G>T, NM_001035506.1:c.-103G>A, NM_001035506.1:c.-103G>T, XM_047445374.1:c.-103G>A, XM_047445374.1:c.-103G>T

Select item 148375954812.

rs1483759548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27050187 (GRCh38)
2:27273055 (GRCh37)
Canonical SPDI:: NC_000002.12:27050186:C:T
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000637/11 (TOMMO)
T=0.001369/4 (KOREAN)
T=0.003363/6 (Korea1K)
HGVS:: NC_000002.12:g.27050187C>T, NC_000002.11:g.27273055C>T, NG_052914.1:g.3765C>T, NR_046730.1:n.78G>A

Select item 148205732313.

rs1482057323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27051026 (GRCh38)
2:27273894 (GRCh37)
Canonical SPDI:: NC_000002.12:27051025:A:G
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.27051026A>G, NC_000002.11:g.27273894A>G, NG_052914.1:g.4604A>G, NG_076894.1:g.166A>G

Select item 148027886014.

rs1480278860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27051851 (GRCh38)
2:27274719 (GRCh37)
Canonical SPDI:: NC_000002.12:27051850:C:T
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27051851C>T, NC_000002.11:g.27274719C>T, NG_052914.1:g.5429C>T

Select item 147998322915.

rs1479983229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27049499 (GRCh38)
2:27272367 (GRCh37)
Canonical SPDI:: NC_000002.12:27049498:G:C
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27049499G>C, NC_000002.11:g.27272367G>C, NG_052914.1:g.3077G>C

Select item 147960226316.

rs1479602263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27051612 (GRCh38)
2:27274480 (GRCh37)
Canonical SPDI:: NC_000002.12:27051611:G:A
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.27051612G>A, NC_000002.11:g.27274480G>A, NG_052914.1:g.5190G>A

Select item 147911375817.

rs1479113758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27052168 (GRCh38)
2:27275036 (GRCh37)
Canonical SPDI:: NC_000002.12:27052167:C:G
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27052168C>G, NC_000002.11:g.27275036C>G, NG_052914.1:g.5746C>G

Select item 147799750718.

rs1477997507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27050674 (GRCh38)
2:27273542 (GRCh37)
Canonical SPDI:: NC_000002.12:27050673:G:A
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000078/11 (GnomAD)
HGVS:: NC_000002.12:g.27050674G>A, NC_000002.11:g.27273542G>A, NG_052914.1:g.4252G>A, XM_047445377.1:c.-243G>A

Select item 147713272719.

rs1477132727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27049453 (GRCh38)
2:27272321 (GRCh37)
Canonical SPDI:: NC_000002.12:27049452:A:G
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000086/12 (GnomAD)
HGVS:: NC_000002.12:g.27049453A>G, NC_000002.11:g.27272321A>G, NG_052914.1:g.3031A>G

Select item 147597089920.

rs1475970899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27051153 (GRCh38)
2:27274021 (GRCh37)
Canonical SPDI:: NC_000002.12:27051152:C:T
Gene:: AGBL5 (Varview), AGBL5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27051153C>T, NC_000002.11:g.27274021C>T, NG_052914.1:g.4731C>T, NG_076894.1:g.293C>T

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