SNP Links for Gene (Select 26835) - SNP

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Select item 14915123581.

rs1491512358 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:120293059 (GRCh38)
12:120730863 (GRCh37)
Canonical SPDI:: NC_000012.12:120293059::C
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/2 (GnomAD)
C=0.000552/1 (Korea1K)
HGVS:: NC_000012.12:g.120293059_120293060insC, NC_000012.11:g.120730862_120730863insC, XM_006719309.5:c.-237_-236insC, XM_006719309.4:c.-237_-236insC, XM_006719309.3:c.-237_-236insC, XM_006719309.2:c.-237_-236insC, NM_176827.1:c.*10343_*10344insC

Select item 14913810532.

rs1491381053 has merged into rs755657122 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CACA,CACACACA [Show Flanks]
Chromosome:: 12:120293054 (GRCh38)
12:120730857 (GRCh37)
Canonical SPDI:: NC_000012.12:120293049:CACACACACA:CACA,NC_000012.12:120293049:CACACACACA:CACACACA,NC_000012.12:120293049:CACACACACA:CACACACACACA
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0./0 (ALFA)
CA=0.00045/2 (Estonian)
-=0.00218/4 (Korea1K)
HGVS:: NC_000012.12:g.120293050CA[2], NC_000012.12:g.120293050CA[4], NC_000012.12:g.120293050CA[6], NC_000012.11:g.120730853CA[2], NC_000012.11:g.120730853CA[4], NC_000012.11:g.120730853CA[6], XM_006719309.5:c.-246CA[2], XM_006719309.5:c.-246CA[4], XM_006719309.5:c.-246CA[6], XM_006719309.4:c.-246CA[2], XM_006719309.4:c.-246CA[4], XM_006719309.4:c.-246CA[6], XM_006719309.3:c.*4294966110_-241insCACAC, XM_006719309.3:c.-241del, XM_006719309.3:c.*4294966110_-241insCAC, XM_006719309.3:c.*4294966110_-241insCACACAC, XM_006719309.2:c.-246CA[2], XM_006719309.2:c.-246CA[4], XM_006719309.2:c.-246CA[6], NM_176827.1:c.*10334CA[2], NM_176827.1:c.*10334CA[4], NM_176827.1:c.*10334CA[6]

Select item 14913412693.

rs1491341269 has merged into rs869124420 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:120293087 (GRCh38)
12:120730890 (GRCh37)
Canonical SPDI:: NC_000012.12:120293085:AGA:A
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120293087_120293088del, NC_000012.11:g.120730890_120730891del, XM_006719309.5:c.-209_-208del, XM_006719309.4:c.-209_-208del, XM_006719309.3:c.-209_-208del, XM_006719309.2:c.-209_-208del, NM_176827.1:c.*10371_*10372del

Select item 14912791034.

rs1491279103 has merged into rs200206075 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:120293064 (GRCh38)
12:120730867 (GRCh37)
Canonical SPDI:: NC_000012.12:120293058:AAAAAAA:AAAAA,NC_000012.12:120293058:AAAAAAA:AAAAAA,NC_000012.12:120293058:AAAAAAA:AAAAAAAA,NC_000012.12:120293058:AAAAAAA:AAAAAAAAA
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.00078/3 (ALSPAC)
A=0.00135/5 (TWINSUK)
A=0.01671/84 (1000Genomes)
A=0.03111/57 (Korea1K)
A=0.0437/730 (TOMMO)
HGVS:: NC_000012.12:g.120293064_120293065del, NC_000012.12:g.120293065del, NC_000012.12:g.120293065dup, NC_000012.12:g.120293064_120293065dup, NC_000012.11:g.120730867_120730868del, NC_000012.11:g.120730868del, NC_000012.11:g.120730868dup, NC_000012.11:g.120730867_120730868dup, XM_006719309.5:c.-232_-231del, XM_006719309.5:c.-231del, XM_006719309.5:c.-231dup, XM_006719309.5:c.-232_-231dup, XM_006719309.4:c.-232_-231del, XM_006719309.4:c.-231del, XM_006719309.4:c.-231dup, XM_006719309.4:c.-232_-231dup, XM_006719309.3:c.-232_-231del, XM_006719309.3:c.-231del, XM_006719309.3:c.-231dup, XM_006719309.3:c.-232_-231dup, XM_006719309.2:c.-232_-231del, XM_006719309.2:c.-231del, XM_006719309.2:c.-231dup, XM_006719309.2:c.-232_-231dup, NM_176827.1:c.*10348_*10349del, NM_176827.1:c.*10349del, NM_176827.1:c.*10349dup, NM_176827.1:c.*10348_*10349dup

Select item 14911602945.

rs1491160294 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:120293050 (GRCh38)
12:120730854 (GRCh37)
Canonical SPDI:: NC_000012.12:120293050:A:AA
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120293051dup, NC_000012.11:g.120730854dup, XM_006719309.5:c.-245dup, XM_006719309.4:c.-245dup, XM_006719309.2:c.-245dup, NM_176827.1:c.*10335dup

Select item 14911138106.

rs1491113810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:120292734 (GRCh38)
12:120730538 (GRCh37)
Canonical SPDI:: NC_000012.12:120292734:GGGG:GGGGG
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: 500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120292738dup, NC_000012.11:g.120730541dup, XM_006719309.5:c.-558dup, XM_006719309.4:c.-558dup, NM_176827.1:c.*10022dup, NM_001385733.1:c.-206dup, NM_001385735.1:c.-206dup

Select item 14878720477.

rs1487872047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:120294181 (GRCh38)
12:120731984 (GRCh37)
Canonical SPDI:: NC_000012.12:120294180:A:C
Gene:: SIRT4 (Varview), RNU4-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120294181A>C, NC_000012.11:g.120731984A>C, NM_176827.1:c.*11465A>C

Select item 14862118488.

rs1486211848 has merged into rs533367198 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:120294838 (GRCh38)
12:120732641 (GRCh37)
Canonical SPDI:: NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:120294828:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SIRT4 (Varview), RNU4-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000159/42 (TOPMED)
-=0.11861/594 (1000Genomes)
HGVS:: NC_000012.12:g.120294838_120294845del, NC_000012.12:g.120294841_120294845del, NC_000012.12:g.120294842_120294845del, NC_000012.12:g.120294843_120294845del, NC_000012.12:g.120294844_120294845del, NC_000012.12:g.120294845del, NC_000012.12:g.120294845dup, NC_000012.12:g.120294844_120294845dup, NC_000012.12:g.120294843_120294845dup, NC_000012.12:g.120294842_120294845dup, NC_000012.11:g.120732641_120732648del, NC_000012.11:g.120732644_120732648del, NC_000012.11:g.120732645_120732648del, NC_000012.11:g.120732646_120732648del, NC_000012.11:g.120732647_120732648del, NC_000012.11:g.120732648del, NC_000012.11:g.120732648dup, NC_000012.11:g.120732647_120732648dup, NC_000012.11:g.120732646_120732648dup, NC_000012.11:g.120732645_120732648dup, NM_176827.1:c.*12122_*12129del, NM_176827.1:c.*12125_*12129del, NM_176827.1:c.*12126_*12129del, NM_176827.1:c.*12127_*12129del, NM_176827.1:c.*12128_*12129del, NM_176827.1:c.*12129del, NM_176827.1:c.*12129dup, NM_176827.1:c.*12128_*12129dup, NM_176827.1:c.*12127_*12129dup, NM_176827.1:c.*12126_*12129dup

Select item 14861728259.

rs1486172825 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:120293027 (GRCh38)
12:120730830 (GRCh37)
Canonical SPDI:: NC_000012.12:120293026:AA:A
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120293028del, NC_000012.11:g.120730831del, XM_006719309.5:c.-268del, XM_006719309.4:c.-268del, XM_006719309.2:c.-268del, NM_176827.1:c.*10312del

Select item 148552673010.

rs1485526730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120292912 (GRCh38)
12:120730715 (GRCh37)
Canonical SPDI:: NC_000012.12:120292911:C:T
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: 500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.120292912C>T, NC_000012.11:g.120730715C>T, XM_006719309.5:c.-384C>T, XM_006719309.4:c.-384C>T, NM_176827.1:c.*10196C>T, NM_001385733.1:c.-32C>T, NM_001385735.1:c.-32C>T

Select item 148510930711.

rs1485109307 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 12:120293003 (GRCh38)
12:120730806 (GRCh37)
Canonical SPDI:: NC_000012.12:120293000:AGAGAG:AG,NC_000012.12:120293000:AGAGAG:AGAG
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000038/10 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.120293001AG[1], NC_000012.12:g.120293001AG[2], NC_000012.11:g.120730804AG[1], NC_000012.11:g.120730804AG[2], XM_006719309.5:c.-295AG[1], XM_006719309.5:c.-295AG[2], XM_006719309.4:c.-295AG[1], XM_006719309.4:c.-295AG[2], XM_006719309.2:c.-295AG[1], XM_006719309.2:c.-295AG[2], NM_176827.1:c.*10285AG[1], NM_176827.1:c.*10285AG[2]

Select item 148433822912.

rs1484338229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:120292661 (GRCh38)
12:120730464 (GRCh37)
Canonical SPDI:: NC_000012.12:120292660:G:A,NC_000012.12:120292660:G:T
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: 500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.120292661G>A, NC_000012.12:g.120292661G>T, NC_000012.11:g.120730464G>A, NC_000012.11:g.120730464G>T, XM_006719309.5:c.-635G>A, XM_006719309.5:c.-635G>T, XM_006719309.4:c.-635G>A, XM_006719309.4:c.-635G>T, NM_176827.1:c.*9945G>A, NM_176827.1:c.*9945G>T, NM_001385733.1:c.-283G>A, NM_001385733.1:c.-283G>T, NM_001385735.1:c.-283G>A, NM_001385735.1:c.-283G>T

Select item 148421742013.

rs1484217420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:120295095 (GRCh38)
12:120732898 (GRCh37)
Canonical SPDI:: NC_000012.12:120295094:T:G
Gene:: SIRT4 (Varview), RNU4-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00046/8 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000012.12:g.120295095T>G, NC_000012.11:g.120732898T>G, NM_176827.1:c.*12379T>G

Select item 148217636114.

rs1482176361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120293741 (GRCh38)
12:120731544 (GRCh37)
Canonical SPDI:: NC_000012.12:120293740:G:A
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.120293741G>A, NC_000012.11:g.120731544G>A, NM_176827.1:c.*11025G>A

Select item 148183613115.

rs1481836131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:120294493 (GRCh38)
12:120732297 (GRCh37)
Canonical SPDI:: NC_000012.12:120294493:T:TT
Gene:: SIRT4 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000171/24 (GnomAD)
T=0.000174/46 (TOPMED)
HGVS:: NC_000012.12:g.120294494dup, NC_000012.11:g.120732297dup, NM_176827.1:c.*11778dup

Select item 148164077616.

rs1481640776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:120294229 (GRCh38)
12:120732032 (GRCh37)
Canonical SPDI:: NC_000012.12:120294228:C:A,NC_000012.12:120294228:C:T
Gene:: SIRT4 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.120294229C>A, NC_000012.12:g.120294229C>T, NC_000012.11:g.120732032C>A, NC_000012.11:g.120732032C>T, NM_176827.1:c.*11513C>A, NM_176827.1:c.*11513C>T

Select item 148023432717.

rs1480234327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:120293503 (GRCh38)
12:120731306 (GRCh37)
Canonical SPDI:: NC_000012.12:120293502:A:T
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_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_000012.12:g.120293503A>T, NC_000012.11:g.120731306A>T, NM_176827.1:c.*10787A>T

Select item 148011303318.

rs1480113033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120293765 (GRCh38)
12:120731568 (GRCh37)
Canonical SPDI:: NC_000012.12:120293764:A:G
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_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_000012.12:g.120293765A>G, NC_000012.11:g.120731568A>G, NM_176827.1:c.*11049A>G

Select item 147925386319.

rs1479253863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120293933 (GRCh38)
12:120731736 (GRCh37)
Canonical SPDI:: NC_000012.12:120293932:A:G
Gene:: SIRT4 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000012.12:g.120293933A>G, NC_000012.11:g.120731736A>G, NM_176827.1:c.*11217A>G

Select item 147844365520.

rs1478443655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120293298 (GRCh38)
12:120731101 (GRCh37)
Canonical SPDI:: NC_000012.12:120293297:A:G
Gene:: SIRT4 (Varview), RNU4-2 (Varview), RNU4-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.120293298A>G, NC_000012.11:g.120731101A>G, NM_176827.1:c.*10582A>G

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