SNP Links for Nucleotide (Select 338827627) - SNP

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Select item 14898730191.

rs1489873019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13584178 (GRCh38)
6:13584410 (GRCh37)
Canonical SPDI:: NC_000006.12:13584177:C:T
Gene:: SIRT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.13584178C>T, NC_000006.11:g.13584410C>T, NM_012241.5:c.68C>T, NM_012241.4:c.68C>T, NM_031244.3:c.68C>T, XM_017010620.3:c.68C>T, XM_017010620.2:c.68C>T, XM_017010620.1:c.68C>T, XM_017010624.3:c.68C>T, XM_017010624.2:c.68C>T, XM_017010624.1:c.68C>T, NM_001193267.2:c.68C>T, XM_024446388.2:c.68C>T, XM_024446388.1:c.68C>T, XM_047418515.1:c.68C>T, XM_047418516.1:c.68C>T, XM_047418514.1:c.68C>T, XM_047418527.1:c.68C>T, XM_047418526.1:c.68C>T, XM_047418525.1:c.68C>T, NM_001242827.1:c.-123C>T, NM_001376811.1:c.-191C>T, NM_001376807.1:c.68C>T, NM_001376801.1:c.68C>T, NM_001376800.1:c.68C>T, NM_001376805.1:c.68C>T, NM_001376798.1:c.68C>T, NM_001376806.1:c.68C>T, NM_001376804.1:c.68C>T, NM_001376799.1:c.68C>T, NM_001376812.1:c.-264C>T, NM_001376803.1:c.68C>T, NM_001376814.1:c.68C>T, NR_164854.1:n.286C>T, NM_001376809.1:c.68C>T, NM_001376810.1:c.68C>T, NM_001376802.1:c.68C>T, NM_001376813.1:c.68C>T, NR_164853.1:n.286C>T, NR_164852.1:n.286C>T, NM_001376815.1:c.68C>T, NM_001376808.1:c.68C>T, NR_164856.1:n.406C>T, XM_047418518.1:c.68C>T, XM_047418520.1:c.68C>T, XM_047418517.1:c.68C>T, XM_047418523.1:c.68C>T, XM_047418519.1:c.68C>T, XM_047418524.1:c.68C>T, XM_047418521.1:c.68C>T, XM_047418522.1:c.68C>T, NP_036373.1:p.Ala23Val, NP_112534.1:p.Ala23Val, XP_016866109.1:p.Ala23Val, XP_016866113.1:p.Ala23Val, NP_001180196.1:p.Ala23Val, XP_024302156.1:p.Ala23Val, XP_047274471.1:p.Ala23Val, XP_047274472.1:p.Ala23Val, XP_047274470.1:p.Ala23Val, XP_047274483.1:p.Ala23Val, XP_047274482.1:p.Ala23Val, XP_047274481.1:p.Ala23Val, NP_001363736.1:p.Ala23Val, NP_001363730.1:p.Ala23Val, NP_001363729.1:p.Ala23Val, NP_001363734.1:p.Ala23Val, NP_001363727.1:p.Ala23Val, NP_001363735.1:p.Ala23Val, NP_001363733.1:p.Ala23Val, NP_001363728.1:p.Ala23Val, NP_001363732.1:p.Ala23Val, NP_001363743.1:p.Ala23Val, NP_001363738.1:p.Ala23Val, NP_001363739.1:p.Ala23Val, NP_001363731.1:p.Ala23Val, NP_001363742.1:p.Ala23Val, NP_001363744.1:p.Ala23Val, NP_001363737.1:p.Ala23Val, XP_047274474.1:p.Ala23Val, XP_047274476.1:p.Ala23Val, XP_047274473.1:p.Ala23Val, XP_047274479.1:p.Ala23Val, XP_047274475.1:p.Ala23Val, XP_047274480.1:p.Ala23Val, XP_047274477.1:p.Ala23Val, XP_047274478.1:p.Ala23Val

Select item 14896428042.

rs1489642804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:13614190 (GRCh38)
6:13614422 (GRCh37)
Canonical SPDI:: NC_000006.12:13614189:C:A
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.13614190C>A, NC_000006.11:g.13614422C>A, NM_012241.5:c.*2325C>A, NM_012241.4:c.*2325C>A, NM_001193267.2:c.*2325C>A, XR_007059461.1:n.1013G>T, XM_047418515.1:c.*2325C>A, XM_047418516.1:c.*2325C>A, XM_047418514.1:c.*2325C>A, XM_047418527.1:c.*2282C>A, XM_047418526.1:c.*2282C>A, XM_047418525.1:c.*2282C>A, NM_001242827.1:c.*2325C>A

Select item 14884967913.

rs1488496791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:13613443 (GRCh38)
6:13613675 (GRCh37)
Canonical SPDI:: NC_000006.12:13613442:A:C,NC_000006.12:13613442:A:T
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.00018/3 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000006.12:g.13613443A>C, NC_000006.12:g.13613443A>T, NC_000006.11:g.13613675A>C, NC_000006.11:g.13613675A>T, NM_012241.5:c.*1578A>C, NM_012241.5:c.*1578A>T, NM_012241.4:c.*1578A>C, NM_012241.4:c.*1578A>T, NM_001193267.2:c.*1578A>C, NM_001193267.2:c.*1578A>T, XR_007059461.1:n.1760T>G, XR_007059461.1:n.1760T>A, XM_047418515.1:c.*1578A>C, XM_047418515.1:c.*1578A>T, XM_047418516.1:c.*1578A>C, XM_047418516.1:c.*1578A>T, XM_047418514.1:c.*1578A>C, XM_047418514.1:c.*1578A>T, XM_047418527.1:c.*1535A>C, XM_047418527.1:c.*1535A>T, XM_047418526.1:c.*1535A>C, XM_047418526.1:c.*1535A>T, XM_047418525.1:c.*1535A>C, XM_047418525.1:c.*1535A>T, NM_001242827.1:c.*1578A>C, NM_001242827.1:c.*1578A>T, NM_001376811.1:c.*1578A>C, NM_001376811.1:c.*1578A>T, NM_001376807.1:c.*1578A>C, NM_001376807.1:c.*1578A>T, NM_001376801.1:c.*1578A>C, NM_001376801.1:c.*1578A>T, NM_001376800.1:c.*1578A>C, NM_001376800.1:c.*1578A>T, NM_001376805.1:c.*1578A>C, NM_001376805.1:c.*1578A>T, NM_001376798.1:c.*1578A>C, NM_001376798.1:c.*1578A>T, NM_001376806.1:c.*1578A>C, NM_001376806.1:c.*1578A>T, NM_001376804.1:c.*1578A>C, NM_001376804.1:c.*1578A>T, NM_001376799.1:c.*1578A>C, NM_001376799.1:c.*1578A>T, NM_001376812.1:c.*1578A>C, NM_001376812.1:c.*1578A>T, NM_001376803.1:c.*1578A>C, NM_001376803.1:c.*1578A>T, NM_001376814.1:c.*1693A>C, NM_001376814.1:c.*1693A>T, NR_164854.1:n.2641A>C, NR_164854.1:n.2641A>T, NM_001376809.1:c.*1535A>C, NM_001376809.1:c.*1535A>T, NM_001376810.1:c.*1535A>C, NM_001376810.1:c.*1535A>T, NM_001376802.1:c.*1578A>C, NM_001376802.1:c.*1578A>T, NM_001376813.1:c.*1693A>C, NM_001376813.1:c.*1693A>T, NR_164853.1:n.2383A>C, NR_164853.1:n.2383A>T, NM_001376815.1:c.*1693A>C, NM_001376815.1:c.*1693A>T

Select item 14880030694.

rs1488003069 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGACAGAG>- [Show Flanks]
Chromosome:: 6:13612359 (GRCh38)
6:13612591 (GRCh37)
Canonical SPDI:: NC_000006.12:13612357:GAGACAGAG:G
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0116/52 (ALFA)
HGVS:: NC_000006.12:g.13612359_13612366del, NC_000006.11:g.13612591_13612598del, NM_012241.5:c.*494_*501del, NM_012241.4:c.*494_*501del, NM_001193267.2:c.*494_*501del, XR_007059461.1:n.2838_2845del, XM_047418515.1:c.*494_*501del, XM_047418516.1:c.*494_*501del, XM_047418514.1:c.*494_*501del, XM_047418527.1:c.*451_*458del, XM_047418526.1:c.*451_*458del, XM_047418525.1:c.*451_*458del, NM_001242827.1:c.*494_*501del, NM_001376811.1:c.*494_*501del, NM_001376807.1:c.*494_*501del, NM_001376801.1:c.*494_*501del, NM_001376800.1:c.*494_*501del, NM_001376805.1:c.*494_*501del, NM_001376798.1:c.*494_*501del, NM_001376806.1:c.*494_*501del, NM_001376804.1:c.*494_*501del, NM_001376799.1:c.*494_*501del, NM_001376812.1:c.*494_*501del, NM_001376803.1:c.*494_*501del, NM_001376814.1:c.*609_*616del, NR_164854.1:n.1557_1564del, NM_001376809.1:c.*451_*458del, NM_001376810.1:c.*451_*458del, NM_001376802.1:c.*494_*501del, NM_001376813.1:c.*609_*616del, NR_164853.1:n.1299_1306del, NM_001376815.1:c.*609_*616del

Select item 14876125585.

rs1487612558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:13599041 (GRCh38)
6:13599273 (GRCh37)
Canonical SPDI:: NC_000006.12:13599040:G:C
Gene:: SIRT5 (Varview), LOC105374938 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000354/6 (TOMMO)
HGVS:: NC_000006.12:g.13599041G>C, NC_000006.11:g.13599273G>C, NM_012241.5:c.627G>C, NM_012241.4:c.627G>C, NM_031244.3:c.627G>C, XM_017010620.3:c.627G>C, XM_017010620.2:c.627G>C, XM_017010620.1:c.627G>C, NM_001193267.2:c.573G>C, XR_001743983.2:n.1501C>G, XM_047418515.1:c.627G>C, XM_047418516.1:c.627G>C, XM_047418514.1:c.627G>C, NM_001242827.1:c.303G>C, NM_001376811.1:c.510G>C, NM_001376807.1:c.627G>C, NM_001376801.1:c.627G>C, NM_001376800.1:c.627G>C, NM_001376805.1:c.627G>C, NM_001376798.1:c.627G>C, NM_001376806.1:c.627G>C, NM_001376804.1:c.627G>C, NM_001376799.1:c.627G>C, NM_001376812.1:c.303G>C, NM_001376803.1:c.627G>C, NR_164854.1:n.757G>C, NM_001376802.1:c.627G>C, NR_164852.1:n.757G>C, XR_007059460.1:n.2765C>G, NM_001376808.1:c.627G>C, NR_164856.1:n.1102G>C, XM_047418518.1:c.627G>C, XM_047418520.1:c.627G>C, XM_047418517.1:c.627G>C, XM_047418523.1:c.627G>C, XM_047418519.1:c.627G>C, XM_047418524.1:c.627G>C, XM_047418521.1:c.627G>C, XM_047418522.1:c.627G>C, NP_036373.1:p.Glu209Asp, NP_112534.1:p.Glu209Asp, XP_016866109.1:p.Glu209Asp, NP_001180196.1:p.Glu191Asp, XP_047274471.1:p.Glu209Asp, XP_047274472.1:p.Glu209Asp, XP_047274470.1:p.Glu209Asp, NP_001229756.1:p.Glu101Asp, NP_001363740.1:p.Glu170Asp, NP_001363736.1:p.Glu209Asp, NP_001363730.1:p.Glu209Asp, NP_001363729.1:p.Glu209Asp, NP_001363734.1:p.Glu209Asp, NP_001363727.1:p.Glu209Asp, NP_001363735.1:p.Glu209Asp, NP_001363733.1:p.Glu209Asp, NP_001363728.1:p.Glu209Asp, NP_001363741.1:p.Glu101Asp, NP_001363732.1:p.Glu209Asp, NP_001363731.1:p.Glu209Asp, NP_001363737.1:p.Glu209Asp, XP_047274474.1:p.Glu209Asp, XP_047274476.1:p.Glu209Asp, XP_047274473.1:p.Glu209Asp, XP_047274479.1:p.Glu209Asp, XP_047274475.1:p.Glu209Asp, XP_047274480.1:p.Glu209Asp, XP_047274477.1:p.Glu209Asp, XP_047274478.1:p.Glu209Asp

Select item 14856186116.

rs1485618611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:13615127 (GRCh38)
6:13615359 (GRCh37)
Canonical SPDI:: NC_000006.12:13615126:T:G
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.13615127T>G, NC_000006.11:g.13615359T>G, NM_012241.5:c.*3262T>G, NM_012241.4:c.*3262T>G, NM_001193267.2:c.*3262T>G, XR_007059461.1:n.76A>C, XM_047418515.1:c.*3262T>G, XM_047418516.1:c.*3262T>G, XM_047418514.1:c.*3262T>G, XM_047418527.1:c.*3219T>G, XM_047418526.1:c.*3219T>G, XM_047418525.1:c.*3219T>G, NM_001242827.1:c.*3262T>G

Select item 14855104627.

rs1485510462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:13612393 (GRCh38)
6:13612625 (GRCh37)
Canonical SPDI:: NC_000006.12:13612392:T:A,NC_000006.12:13612392:T:G
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
G=0.002183/4 (Korea1K)
HGVS:: NC_000006.12:g.13612393T>A, NC_000006.12:g.13612393T>G, NC_000006.11:g.13612625T>A, NC_000006.11:g.13612625T>G, NM_012241.5:c.*528T>A, NM_012241.5:c.*528T>G, NM_012241.4:c.*528T>A, NM_012241.4:c.*528T>G, NM_001193267.2:c.*528T>A, NM_001193267.2:c.*528T>G, XR_007059461.1:n.2810A>T, XR_007059461.1:n.2810A>C, XM_047418515.1:c.*528T>A, XM_047418515.1:c.*528T>G, XM_047418516.1:c.*528T>A, XM_047418516.1:c.*528T>G, XM_047418514.1:c.*528T>A, XM_047418514.1:c.*528T>G, XM_047418527.1:c.*485T>A, XM_047418527.1:c.*485T>G, XM_047418526.1:c.*485T>A, XM_047418526.1:c.*485T>G, XM_047418525.1:c.*485T>A, XM_047418525.1:c.*485T>G, NM_001242827.1:c.*528T>A, NM_001242827.1:c.*528T>G, NM_001376811.1:c.*528T>A, NM_001376811.1:c.*528T>G, NM_001376807.1:c.*528T>A, NM_001376807.1:c.*528T>G, NM_001376801.1:c.*528T>A, NM_001376801.1:c.*528T>G, NM_001376800.1:c.*528T>A, NM_001376800.1:c.*528T>G, NM_001376805.1:c.*528T>A, NM_001376805.1:c.*528T>G, NM_001376798.1:c.*528T>A, NM_001376798.1:c.*528T>G, NM_001376806.1:c.*528T>A, NM_001376806.1:c.*528T>G, NM_001376804.1:c.*528T>A, NM_001376804.1:c.*528T>G, NM_001376799.1:c.*528T>A, NM_001376799.1:c.*528T>G, NM_001376812.1:c.*528T>A, NM_001376812.1:c.*528T>G, NM_001376803.1:c.*528T>A, NM_001376803.1:c.*528T>G, NM_001376814.1:c.*643T>A, NM_001376814.1:c.*643T>G, NR_164854.1:n.1591T>A, NR_164854.1:n.1591T>G, NM_001376809.1:c.*485T>A, NM_001376809.1:c.*485T>G, NM_001376810.1:c.*485T>A, NM_001376810.1:c.*485T>G, NM_001376802.1:c.*528T>A, NM_001376802.1:c.*528T>G, NM_001376813.1:c.*643T>A, NM_001376813.1:c.*643T>G, NR_164853.1:n.1333T>A, NR_164853.1:n.1333T>G, NM_001376815.1:c.*643T>A, NM_001376815.1:c.*643T>G

Select item 14841797558.

rs1484179755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:13574582 (GRCh38)
6:13574814 (GRCh37)
Canonical SPDI:: NC_000006.12:13574581:G:A,NC_000006.12:13574581:G:C
Gene:: SIRT5 (Varview), LOC105374937 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.13574582G>A, NC_000006.12:g.13574582G>C, NC_000006.11:g.13574814G>A, NC_000006.11:g.13574814G>C, NM_031244.3:c.-237G>A, NM_031244.3:c.-237G>C, XM_017010620.3:c.-237G>A, XM_017010620.3:c.-237G>C, XM_017010624.3:c.-237G>A, XM_017010624.3:c.-237G>C, NM_001193267.2:c.-237G>A, NM_001193267.2:c.-237G>C, XM_024446388.2:c.-237G>A, XM_024446388.2:c.-237G>C, NM_001242827.1:c.-427G>A, NM_001242827.1:c.-427G>C

Select item 14839185329.

rs1483918532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:13613284 (GRCh38)
6:13613516 (GRCh37)
Canonical SPDI:: NC_000006.12:13613283:T:G
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.13613284T>G, NC_000006.11:g.13613516T>G, NM_012241.5:c.*1419T>G, NM_012241.4:c.*1419T>G, NM_001193267.2:c.*1419T>G, XR_007059461.1:n.1919A>C, XM_047418515.1:c.*1419T>G, XM_047418516.1:c.*1419T>G, XM_047418514.1:c.*1419T>G, XM_047418527.1:c.*1376T>G, XM_047418526.1:c.*1376T>G, XM_047418525.1:c.*1376T>G, NM_001242827.1:c.*1419T>G, NM_001376811.1:c.*1419T>G, NM_001376807.1:c.*1419T>G, NM_001376801.1:c.*1419T>G, NM_001376800.1:c.*1419T>G, NM_001376805.1:c.*1419T>G, NM_001376798.1:c.*1419T>G, NM_001376806.1:c.*1419T>G, NM_001376804.1:c.*1419T>G, NM_001376799.1:c.*1419T>G, NM_001376812.1:c.*1419T>G, NM_001376803.1:c.*1419T>G, NM_001376814.1:c.*1534T>G, NR_164854.1:n.2482T>G, NM_001376809.1:c.*1376T>G, NM_001376810.1:c.*1376T>G, NM_001376802.1:c.*1419T>G, NM_001376813.1:c.*1534T>G, NR_164853.1:n.2224T>G, NM_001376815.1:c.*1534T>G

Select item 148387625810.

rs1483876258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:13612731 (GRCh38)
6:13612963 (GRCh37)
Canonical SPDI:: NC_000006.12:13612730:A:G
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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.13612731A>G, NC_000006.11:g.13612963A>G, NM_012241.5:c.*866A>G, NM_012241.4:c.*866A>G, NM_001193267.2:c.*866A>G, XR_007059461.1:n.2472T>C, XM_047418515.1:c.*866A>G, XM_047418516.1:c.*866A>G, XM_047418514.1:c.*866A>G, XM_047418527.1:c.*823A>G, XM_047418526.1:c.*823A>G, XM_047418525.1:c.*823A>G, NM_001242827.1:c.*866A>G, NM_001376811.1:c.*866A>G, NM_001376807.1:c.*866A>G, NM_001376801.1:c.*866A>G, NM_001376800.1:c.*866A>G, NM_001376805.1:c.*866A>G, NM_001376798.1:c.*866A>G, NM_001376806.1:c.*866A>G, NM_001376804.1:c.*866A>G, NM_001376799.1:c.*866A>G, NM_001376812.1:c.*866A>G, NM_001376803.1:c.*866A>G, NM_001376814.1:c.*981A>G, NR_164854.1:n.1929A>G, NM_001376809.1:c.*823A>G, NM_001376810.1:c.*823A>G, NM_001376802.1:c.*866A>G, NM_001376813.1:c.*981A>G, NR_164853.1:n.1671A>G, NM_001376815.1:c.*981A>G

Select item 148362097111.

rs1483620971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:13614965 (GRCh38)
6:13615197 (GRCh37)
Canonical SPDI:: NC_000006.12:13614964:C:A,NC_000006.12:13614964:C:G
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.13614965C>A, NC_000006.12:g.13614965C>G, NC_000006.11:g.13615197C>A, NC_000006.11:g.13615197C>G, NM_012241.5:c.*3100C>A, NM_012241.5:c.*3100C>G, NM_012241.4:c.*3100C>A, NM_012241.4:c.*3100C>G, NM_001193267.2:c.*3100C>A, NM_001193267.2:c.*3100C>G, XR_007059461.1:n.238G>T, XR_007059461.1:n.238G>C, XM_047418515.1:c.*3100C>A, XM_047418515.1:c.*3100C>G, XM_047418516.1:c.*3100C>A, XM_047418516.1:c.*3100C>G, XM_047418514.1:c.*3100C>A, XM_047418514.1:c.*3100C>G, XM_047418527.1:c.*3057C>A, XM_047418527.1:c.*3057C>G, XM_047418526.1:c.*3057C>A, XM_047418526.1:c.*3057C>G, XM_047418525.1:c.*3057C>A, XM_047418525.1:c.*3057C>G, NM_001242827.1:c.*3100C>A, NM_001242827.1:c.*3100C>G

Select item 148352729512.

rs1483527295 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGA [Show Flanks]
Chromosome:: 6:13612851 (GRCh38)
6:13613084 (GRCh37)
Canonical SPDI:: NC_000006.12:13612851:TGA:TGATGA
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGATGA=0./0 (ALFA)
TGA=0.000008/2 (TOPMED)
TGA=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.13612852_13612854dup, NC_000006.11:g.13613084_13613086dup, NM_012241.5:c.*987_*989dup, NM_012241.4:c.*987_*989dup, NM_001193267.2:c.*987_*989dup, XR_007059461.1:n.2349_2351dup, XM_047418515.1:c.*987_*989dup, XM_047418516.1:c.*987_*989dup, XM_047418514.1:c.*987_*989dup, XM_047418527.1:c.*944_*946dup, XM_047418526.1:c.*944_*946dup, XM_047418525.1:c.*944_*946dup, NM_001242827.1:c.*987_*989dup, NM_001376811.1:c.*987_*989dup, NM_001376807.1:c.*987_*989dup, NM_001376801.1:c.*987_*989dup, NM_001376800.1:c.*987_*989dup, NM_001376805.1:c.*987_*989dup, NM_001376798.1:c.*987_*989dup, NM_001376806.1:c.*987_*989dup, NM_001376804.1:c.*987_*989dup, NM_001376799.1:c.*987_*989dup, NM_001376812.1:c.*987_*989dup, NM_001376803.1:c.*987_*989dup, NM_001376814.1:c.*1102_*1104dup, NR_164854.1:n.2050_2052dup, NM_001376809.1:c.*944_*946dup, NM_001376810.1:c.*944_*946dup, NM_001376802.1:c.*987_*989dup, NM_001376813.1:c.*1102_*1104dup, NR_164853.1:n.1792_1794dup, NM_001376815.1:c.*1102_*1104dup

Select item 148300756813.

rs1483007568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:13612642 (GRCh38)
6:13612874 (GRCh37)
Canonical SPDI:: NC_000006.12:13612641:C:G
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.13612642C>G, NC_000006.11:g.13612874C>G, NM_012241.5:c.*777C>G, NM_012241.4:c.*777C>G, NM_001193267.2:c.*777C>G, XR_007059461.1:n.2561G>C, XM_047418515.1:c.*777C>G, XM_047418516.1:c.*777C>G, XM_047418514.1:c.*777C>G, XM_047418527.1:c.*734C>G, XM_047418526.1:c.*734C>G, XM_047418525.1:c.*734C>G, NM_001242827.1:c.*777C>G, NM_001376811.1:c.*777C>G, NM_001376807.1:c.*777C>G, NM_001376801.1:c.*777C>G, NM_001376800.1:c.*777C>G, NM_001376805.1:c.*777C>G, NM_001376798.1:c.*777C>G, NM_001376806.1:c.*777C>G, NM_001376804.1:c.*777C>G, NM_001376799.1:c.*777C>G, NM_001376812.1:c.*777C>G, NM_001376803.1:c.*777C>G, NM_001376814.1:c.*892C>G, NR_164854.1:n.1840C>G, NM_001376809.1:c.*734C>G, NM_001376810.1:c.*734C>G, NM_001376802.1:c.*777C>G, NM_001376813.1:c.*892C>G, NR_164853.1:n.1582C>G, NM_001376815.1:c.*892C>G

Select item 148206856214.

rs1482068562 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGT [Show Flanks]
Chromosome:: 6:13614558 (GRCh38)
6:13614791 (GRCh37)
Canonical SPDI:: NC_000006.12:13614558:GT:GTGGT
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GTGGT=0./0 (ALFA)
GTG=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.13614560_13614561insGGT, NC_000006.11:g.13614792_13614793insGGT, NM_012241.5:c.*2695_*2696insGGT, NM_012241.4:c.*2695_*2696insGGT, NM_001193267.2:c.*2695_*2696insGGT, XR_007059461.1:n.644_645insCAC, XM_047418515.1:c.*2695_*2696insGGT, XM_047418516.1:c.*2695_*2696insGGT, XM_047418514.1:c.*2695_*2696insGGT, XM_047418527.1:c.*2652_*2653insGGT, XM_047418526.1:c.*2652_*2653insGGT, XM_047418525.1:c.*2652_*2653insGGT, NM_001242827.1:c.*2695_*2696insGGT

Select item 148192351115.

rs1481923511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:13613677 (GRCh38)
6:13613909 (GRCh37)
Canonical SPDI:: NC_000006.12:13613676:G:C
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.13613677G>C, NC_000006.11:g.13613909G>C, NM_012241.5:c.*1812G>C, NM_012241.4:c.*1812G>C, NM_001193267.2:c.*1812G>C, XR_007059461.1:n.1526C>G, XM_047418515.1:c.*1812G>C, XM_047418516.1:c.*1812G>C, XM_047418514.1:c.*1812G>C, XM_047418527.1:c.*1769G>C, XM_047418526.1:c.*1769G>C, XM_047418525.1:c.*1769G>C, NM_001242827.1:c.*1812G>C, NM_001376811.1:c.*1812G>C, NM_001376807.1:c.*1812G>C, NM_001376801.1:c.*1812G>C, NM_001376800.1:c.*1812G>C, NM_001376805.1:c.*1812G>C, NM_001376798.1:c.*1812G>C, NM_001376806.1:c.*1812G>C, NM_001376804.1:c.*1812G>C, NM_001376799.1:c.*1812G>C, NM_001376812.1:c.*1812G>C, NM_001376803.1:c.*1812G>C, NM_001376814.1:c.*1927G>C, NR_164854.1:n.2875G>C, NM_001376809.1:c.*1769G>C, NM_001376810.1:c.*1769G>C, NM_001376802.1:c.*1812G>C, NM_001376813.1:c.*1927G>C, NR_164853.1:n.2617G>C, NM_001376815.1:c.*1927G>C

Select item 148156433616.

rs1481564336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13614252 (GRCh38)
6:13614484 (GRCh37)
Canonical SPDI:: NC_000006.12:13614251:C:T
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.13614252C>T, NC_000006.11:g.13614484C>T, NM_012241.5:c.*2387C>T, NM_012241.4:c.*2387C>T, NM_001193267.2:c.*2387C>T, XR_007059461.1:n.951G>A, XM_047418515.1:c.*2387C>T, XM_047418516.1:c.*2387C>T, XM_047418514.1:c.*2387C>T, XM_047418527.1:c.*2344C>T, XM_047418526.1:c.*2344C>T, XM_047418525.1:c.*2344C>T, NM_001242827.1:c.*2387C>T

Select item 148111749817.

rs1481117498 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:13612314 (GRCh38)
6:13612547 (GRCh37)
Canonical SPDI:: NC_000006.12:13612314:CCCC:CCCCC
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.13612318dup, NC_000006.11:g.13612550dup, NM_012241.5:c.*453dup, NM_012241.4:c.*453dup, NM_001193267.2:c.*453dup, XR_007059461.1:n.2888dup, XM_047418515.1:c.*453dup, XM_047418516.1:c.*453dup, XM_047418514.1:c.*453dup, XM_047418527.1:c.*410dup, XM_047418526.1:c.*410dup, XM_047418525.1:c.*410dup, NM_001242827.1:c.*453dup, NM_001376811.1:c.*453dup, NM_001376807.1:c.*453dup, NM_001376801.1:c.*453dup, NM_001376800.1:c.*453dup, NM_001376805.1:c.*453dup, NM_001376798.1:c.*453dup, NM_001376806.1:c.*453dup, NM_001376804.1:c.*453dup, NM_001376799.1:c.*453dup, NM_001376812.1:c.*453dup, NM_001376803.1:c.*453dup, NM_001376814.1:c.*568dup, NR_164854.1:n.1516dup, NM_001376809.1:c.*410dup, NM_001376810.1:c.*410dup, NM_001376802.1:c.*453dup, NM_001376813.1:c.*568dup, NR_164853.1:n.1258dup, NM_001376815.1:c.*568dup

Select item 148074353418.

rs1480743534 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTCAGCAGCCTCC [Show Flanks]
Chromosome:: 6:13613168 (GRCh38)
6:13613401 (GRCh37)
Canonical SPDI:: NC_000006.12:13613168:CCTCCCCTCAGCAGCCTCC:CCTCCCCTCAGCAGCCTCCCCTCAGCAGCCTCC
Gene:: SIRT5 (Varview), LOC124901263 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCTCCCCTCAGCAGCCTCCCCTCAGCAGCCTCC=0./0 (ALFA)
CCTCCCCTCAGCAG=0.000071/10 (GnomAD)
HGVS:: NC_000006.12:g.13613174_13613187dup, NC_000006.11:g.13613406_13613419dup, NM_012241.5:c.*1309_*1322dup, NM_012241.4:c.*1309_*1322dup, NM_001193267.2:c.*1309_*1322dup, XR_007059461.1:n.2021_2034dup, XM_047418515.1:c.*1309_*1322dup, XM_047418516.1:c.*1309_*1322dup, XM_047418514.1:c.*1309_*1322dup, XM_047418527.1:c.*1266_*1279dup, XM_047418526.1:c.*1266_*1279dup, XM_047418525.1:c.*1266_*1279dup, NM_001242827.1:c.*1309_*1322dup, NM_001376811.1:c.*1309_*1322dup, NM_001376807.1:c.*1309_*1322dup, NM_001376801.1:c.*1309_*1322dup, NM_001376800.1:c.*1309_*1322dup, NM_001376805.1:c.*1309_*1322dup, NM_001376798.1:c.*1309_*1322dup, NM_001376806.1:c.*1309_*1322dup, NM_001376804.1:c.*1309_*1322dup, NM_001376799.1:c.*1309_*1322dup, NM_001376812.1:c.*1309_*1322dup, NM_001376803.1:c.*1309_*1322dup, NM_001376814.1:c.*1424_*1437dup, NR_164854.1:n.2372_2385dup, NM_001376809.1:c.*1266_*1279dup, NM_001376810.1:c.*1266_*1279dup, NM_001376802.1:c.*1309_*1322dup, NM_001376813.1:c.*1424_*1437dup, NR_164853.1:n.2114_2127dup, NM_001376815.1:c.*1424_*1437dup

Select item 148001249819.

rs1480012498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13615100 (GRCh38)
6:13615332 (GRCh37)
Canonical SPDI:: NC_000006.12:13615099:C:T
Gene:: SIRT5 (Varview), NOL7 (Varview), LOC124901263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.13615100C>T, NC_000006.11:g.13615332C>T, NM_012241.5:c.*3235C>T, NM_012241.4:c.*3235C>T, NM_001193267.2:c.*3235C>T, XR_007059461.1:n.103G>A, XM_047418515.1:c.*3235C>T, XM_047418516.1:c.*3235C>T, XM_047418514.1:c.*3235C>T, XM_047418527.1:c.*3192C>T, XM_047418526.1:c.*3192C>T, XM_047418525.1:c.*3192C>T, NM_001242827.1:c.*3235C>T

Select item 147981796820.

rs1479817968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13584187 (GRCh38)
6:13584419 (GRCh37)
Canonical SPDI:: NC_000006.12:13584186:G:A
Gene:: SIRT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00055/1 (Korea1K)
HGVS:: NC_000006.12:g.13584187G>A, NC_000006.11:g.13584419G>A, NM_012241.5:c.77G>A, NM_012241.4:c.77G>A, NM_031244.3:c.77G>A, XM_017010620.3:c.77G>A, XM_017010620.2:c.77G>A, XM_017010620.1:c.77G>A, XM_017010624.3:c.77G>A, XM_017010624.2:c.77G>A, XM_017010624.1:c.77G>A, NM_001193267.2:c.77G>A, XM_024446388.2:c.77G>A, XM_024446388.1:c.77G>A, XM_047418515.1:c.77G>A, XM_047418516.1:c.77G>A, XM_047418514.1:c.77G>A, XM_047418527.1:c.77G>A, XM_047418526.1:c.77G>A, XM_047418525.1:c.77G>A, NM_001242827.1:c.-114G>A, NM_001376811.1:c.-182G>A, NM_001376807.1:c.77G>A, NM_001376801.1:c.77G>A, NM_001376800.1:c.77G>A, NM_001376805.1:c.77G>A, NM_001376798.1:c.77G>A, NM_001376806.1:c.77G>A, NM_001376804.1:c.77G>A, NM_001376799.1:c.77G>A, NM_001376812.1:c.-255G>A, NM_001376803.1:c.77G>A, NM_001376814.1:c.77G>A, NR_164854.1:n.295G>A, NM_001376809.1:c.77G>A, NM_001376810.1:c.77G>A, NM_001376802.1:c.77G>A, NM_001376813.1:c.77G>A, NR_164853.1:n.295G>A, NR_164852.1:n.295G>A, NM_001376815.1:c.77G>A, NM_001376808.1:c.77G>A, NR_164856.1:n.415G>A, XM_047418518.1:c.77G>A, XM_047418520.1:c.77G>A, XM_047418517.1:c.77G>A, XM_047418523.1:c.77G>A, XM_047418519.1:c.77G>A, XM_047418524.1:c.77G>A, XM_047418521.1:c.77G>A, XM_047418522.1:c.77G>A, NP_036373.1:p.Arg26Gln, NP_112534.1:p.Arg26Gln, XP_016866109.1:p.Arg26Gln, XP_016866113.1:p.Arg26Gln, NP_001180196.1:p.Arg26Gln, XP_024302156.1:p.Arg26Gln, XP_047274471.1:p.Arg26Gln, XP_047274472.1:p.Arg26Gln, XP_047274470.1:p.Arg26Gln, XP_047274483.1:p.Arg26Gln, XP_047274482.1:p.Arg26Gln, XP_047274481.1:p.Arg26Gln, NP_001363736.1:p.Arg26Gln, NP_001363730.1:p.Arg26Gln, NP_001363729.1:p.Arg26Gln, NP_001363734.1:p.Arg26Gln, NP_001363727.1:p.Arg26Gln, NP_001363735.1:p.Arg26Gln, NP_001363733.1:p.Arg26Gln, NP_001363728.1:p.Arg26Gln, NP_001363732.1:p.Arg26Gln, NP_001363743.1:p.Arg26Gln, NP_001363738.1:p.Arg26Gln, NP_001363739.1:p.Arg26Gln, NP_001363731.1:p.Arg26Gln, NP_001363742.1:p.Arg26Gln, NP_001363744.1:p.Arg26Gln, NP_001363737.1:p.Arg26Gln, XP_047274474.1:p.Arg26Gln, XP_047274476.1:p.Arg26Gln, XP_047274473.1:p.Arg26Gln, XP_047274479.1:p.Arg26Gln, XP_047274475.1:p.Arg26Gln, XP_047274480.1:p.Arg26Gln, XP_047274477.1:p.Arg26Gln, XP_047274478.1:p.Arg26Gln

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