SNP Links for Gene (Select 51547) - SNP

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Select item 14915466581.

rs1491546658 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:81913970 (GRCh38)
17:79871847 (GRCh37)
Canonical SPDI:: NC_000017.11:81913970:T:TT
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.81913971dup, NC_000017.10:g.79871847dup

Select item 14912194022.

rs1491219402 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:81913971 (GRCh38)
17:79871847 (GRCh37)
Canonical SPDI:: NC_000017.11:81913969:CTC:C
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.81913971_81913972del, NC_000017.10:g.79871847_79871848del

Select item 14909975163.

rs1490997516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:81915380 (GRCh38)
17:79873256 (GRCh37)
Canonical SPDI:: NC_000017.11:81915379:T:A,NC_000017.11:81915379:T:G
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81915380T>A, NC_000017.11:g.81915380T>G, NC_000017.10:g.79873256T>A, NC_000017.10:g.79873256T>G

Select item 14909290554.

rs1490929055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:81914670 (GRCh38)
17:79872546 (GRCh37)
Canonical SPDI:: NC_000017.11:81914669:C:A
Gene:: SIRT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.81914670C>A, NC_000017.10:g.79872546C>A, NM_016538.3:c.513G>T, NM_016538.2:c.513G>T, XM_011523580.2:c.408G>T, XM_011523580.1:c.408G>T, XM_047436228.1:c.300G>T, XM_047436229.1:c.267G>T, XM_047436230.1:c.513G>T, XM_047436231.1:c.513G>T

Select item 14903459325.

rs1490345932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81918487 (GRCh38)
17:79876363 (GRCh37)
Canonical SPDI:: NC_000017.11:81918486:G:A,NC_000017.11:81918486:G:C
Gene:: MAFG (Varview), SIRT7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81918487G>A, NC_000017.11:g.81918487G>C, NC_000017.10:g.79876363G>A, NC_000017.10:g.79876363G>C, NM_002359.4:c.*4118C>T, NM_002359.4:c.*4118C>G, NM_002359.3:c.*4118C>T, NM_002359.3:c.*4118C>G, NM_032711.4:c.*4118C>T, NM_032711.4:c.*4118C>G, NM_032711.3:c.*4118C>T, NM_032711.3:c.*4118C>G, XM_047436069.1:c.*4118C>T, XM_047436069.1:c.*4118C>G, XM_047436071.1:c.*4118C>T, XM_047436071.1:c.*4118C>G, XM_047436068.1:c.*4118C>T, XM_047436068.1:c.*4118C>G, XM_047436072.1:c.*4118C>T, XM_047436072.1:c.*4118C>G, XM_047436070.1:c.*4118C>T, XM_047436070.1:c.*4118C>G

Select item 14901811456.

rs1490181145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81915038 (GRCh38)
17:79872914 (GRCh37)
Canonical SPDI:: NC_000017.11:81915037:C:T
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_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_000017.11:g.81915038C>T, NC_000017.10:g.79872914C>T

Select item 14891950297.

rs1489195029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:81914069 (GRCh38)
17:79871945 (GRCh37)
Canonical SPDI:: NC_000017.11:81914068:T:G
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81914069T>G, NC_000017.10:g.79871945T>G

Select item 14891570328.

rs1489157032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81918101 (GRCh38)
17:79875977 (GRCh37)
Canonical SPDI:: NC_000017.11:81918100:G:A
Gene:: MAFG (Varview), SIRT7 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81918101G>A, NC_000017.10:g.79875977G>A, NM_016538.3:c.31C>T, NM_016538.2:c.31C>T, XM_011523580.2:c.31C>T, XM_011523580.1:c.31C>T, XM_047436230.1:c.31C>T, XM_047436231.1:c.31C>T, NP_057622.1:p.Arg11Cys, XP_011521882.1:p.Arg11Cys, XP_047292186.1:p.Arg11Cys, XP_047292187.1:p.Arg11Cys

Select item 14890653419.

rs1489065341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81919125 (GRCh38)
17:79877001 (GRCh37)
Canonical SPDI:: NC_000017.11:81919124:G:C
Gene:: MAFG (Varview), SIRT7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81919125G>C, NC_000017.10:g.79877001G>C, NM_002359.4:c.*3480C>G, NM_002359.3:c.*3480C>G, NM_032711.4:c.*3480C>G, NM_032711.3:c.*3480C>G, XM_047436069.1:c.*3480C>G, XM_047436071.1:c.*3480C>G, XM_047436068.1:c.*3480C>G, XM_047436072.1:c.*3480C>G, XM_047436070.1:c.*3480C>G

Select item 148902699610.

rs1489026996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:81920122 (GRCh38)
17:79877998 (GRCh37)
Canonical SPDI:: NC_000017.11:81920121:T:G
Gene:: MAFG (Varview), SIRT7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.81920122T>G, NC_000017.10:g.79877998T>G, NM_002359.4:c.*2483A>C, NM_002359.3:c.*2483A>C, NM_032711.4:c.*2483A>C, NM_032711.3:c.*2483A>C, XM_047436069.1:c.*2483A>C, XM_047436071.1:c.*2483A>C, XM_047436068.1:c.*2483A>C, XM_047436072.1:c.*2483A>C, XM_047436070.1:c.*2483A>C

Select item 148898057611.

rs1488980576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:81912393 (GRCh38)
17:79870269 (GRCh37)
Canonical SPDI:: NC_000017.11:81912392:A:G,NC_000017.11:81912392:A:T
Gene:: PCYT2 (Varview), SIRT7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81912393A>G, NC_000017.11:g.81912393A>T, NC_000017.10:g.79870269A>G, NC_000017.10:g.79870269A>T, NM_016538.3:c.*23T>C, NM_016538.3:c.*23T>A, NM_016538.2:c.*23T>C, NM_016538.2:c.*23T>A, XM_011523580.2:c.*23T>C, XM_011523580.2:c.*23T>A, XM_011523580.1:c.*23T>C, XM_011523580.1:c.*23T>A, XM_047436228.1:c.*23T>C, XM_047436228.1:c.*23T>A, XM_047436229.1:c.*23T>C, XM_047436229.1:c.*23T>A

Select item 148887653212.

rs1488876532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81913317 (GRCh38)
17:79871193 (GRCh37)
Canonical SPDI:: NC_000017.11:81913316:G:A
Gene:: PCYT2 (Varview), SIRT7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81913317G>A, NC_000017.10:g.79871193G>A

Select item 148881666113.

rs1488816661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81915789 (GRCh38)
17:79873665 (GRCh37)
Canonical SPDI:: NC_000017.11:81915788:G:A
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.81915789G>A, NC_000017.10:g.79873665G>A

Select item 148854515514.

rs1488545155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81920099 (GRCh38)
17:79877975 (GRCh37)
Canonical SPDI:: NC_000017.11:81920098:G:A
Gene:: MAFG (Varview), SIRT7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81920099G>A, NC_000017.10:g.79877975G>A, NM_002359.4:c.*2506C>T, NM_002359.3:c.*2506C>T, NM_032711.4:c.*2506C>T, NM_032711.3:c.*2506C>T, XM_047436069.1:c.*2506C>T, XM_047436071.1:c.*2506C>T, XM_047436068.1:c.*2506C>T, XM_047436072.1:c.*2506C>T, XM_047436070.1:c.*2506C>T

Select item 148814479015.

rs1488144790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81913081 (GRCh38)
17:79870957 (GRCh37)
Canonical SPDI:: NC_000017.11:81913080:T:C
Gene:: PCYT2 (Varview), SIRT7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.81913081T>C, NC_000017.10:g.79870957T>C

Select item 148802079616.

rs1488020796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:81915582 (GRCh38)
17:79873458 (GRCh37)
Canonical SPDI:: NC_000017.11:81915581:A:C,NC_000017.11:81915581:A:G
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81915582A>C, NC_000017.11:g.81915582A>G, NC_000017.10:g.79873458A>C, NC_000017.10:g.79873458A>G

Select item 148800114617.

rs1488001146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81912641 (GRCh38)
17:79870517 (GRCh37)
Canonical SPDI:: NC_000017.11:81912640:G:A
Gene:: PCYT2 (Varview), SIRT7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81912641G>A, NC_000017.10:g.79870517G>A

Select item 148782207818.

rs1487822078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81914770 (GRCh38)
17:79872646 (GRCh37)
Canonical SPDI:: NC_000017.11:81914769:C:T
Gene:: SIRT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81914770C>T, NC_000017.10:g.79872646C>T

Select item 148714042719.

rs1487140427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81917449 (GRCh38)
17:79875325 (GRCh37)
Canonical SPDI:: NC_000017.11:81917448:G:T
Gene:: SIRT7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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_000017.11:g.81917449G>T, NC_000017.10:g.79875325G>T, XM_047436228.1:c.-1269C>A

Select item 148710760120.

rs1487107601 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:81918218 (GRCh38)
17:79876094 (GRCh37)
Canonical SPDI:: NC_000017.11:81918217:CCC:CC
Gene:: MAFG (Varview), SIRT7 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/1 (GnomAD)
HGVS:: NC_000017.11:g.81918220del, NC_000017.10:g.79876096del