SNP Links for Gene (Select 22933) - SNP

Links from Gene

Items: 1 to 20 of 5846

<< First< Prev

Page of 293

Next >Last >>

Select item 14915298941.

rs1491529894 has merged into rs551831229 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:38886631 (GRCh38)
19:39377271 (GRCh37)
Canonical SPDI:: NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:38886620:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1087/65 (NorthernSweden)
-=0.14796/741 (1000Genomes)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000019.10:g.38886631_38886639del, NC_000019.10:g.38886633_38886639del, NC_000019.10:g.38886636_38886639del, NC_000019.10:g.38886637_38886639del, NC_000019.10:g.38886638_38886639del, NC_000019.10:g.38886639del, NC_000019.10:g.38886639dup, NC_000019.10:g.38886638_38886639dup, NC_000019.9:g.39377271_39377279del, NC_000019.9:g.39377273_39377279del, NC_000019.9:g.39377276_39377279del, NC_000019.9:g.39377277_39377279del, NC_000019.9:g.39377278_39377279del, NC_000019.9:g.39377279del, NC_000019.9:g.39377279dup, NC_000019.9:g.39377278_39377279dup, NW_014040929.1:g.296303_296311del, NW_014040929.1:g.296305_296311del, NW_014040929.1:g.296308_296311del, NW_014040929.1:g.296309_296311del, NW_014040929.1:g.296310_296311del, NW_014040929.1:g.296311del, NW_014040929.1:g.296311dup, NW_014040929.1:g.296310_296311dup

Select item 14912215712.

rs1491221571 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:38886621 (GRCh38)
19:39377262 (GRCh37)
Canonical SPDI:: NC_000019.10:38886621::G
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38886621_38886622insG, NC_000019.9:g.39377261_39377262insG, NW_014040929.1:g.296293_296294insG

Select item 14910037453.

rs1491003745 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:38887148 (GRCh38)
19:39377788 (GRCh37)
Canonical SPDI:: NC_000019.10:38887147:TTT:TT
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38887150del, NC_000019.9:g.39377790del, NW_014040929.1:g.296822del

Select item 14910030944.

rs1491003094 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:38891872 (GRCh38)
19:39382512 (GRCh37)
Canonical SPDI:: NC_000019.10:38891871:GG:G
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000214/30 (GnomAD)
HGVS:: NC_000019.10:g.38891873del, NC_000019.9:g.39382513del, NW_014040929.1:g.301545del

Select item 14909275045.

rs1490927504 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACG [Show Flanks]
Chromosome:: 19:38894295 (GRCh38)
19:39384936 (GRCh37)
Canonical SPDI:: NC_000019.10:38894295:GACG:GACGGACG
Gene:: SIRT2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GACGGACG=0./0 (ALFA)
GACG=0.000004/1 (TOPMED)
GACG=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38894296_38894299dup, NC_000019.9:g.39384936_39384939dup, NW_014040929.1:g.303968_303971dup

Select item 14909235676.

rs1490923567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:38886296 (GRCh38)
19:39376936 (GRCh37)
Canonical SPDI:: NC_000019.10:38886295:C:A,NC_000019.10:38886295:C:G
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.38886296C>A, NC_000019.10:g.38886296C>G, NC_000019.9:g.39376936C>A, NC_000019.9:g.39376936C>G, NW_014040929.1:g.295968C>A, NW_014040929.1:g.295968C>G

Select item 14907723307.

rs1490772330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:38899639 (GRCh38)
19:39390279 (GRCh37)
Canonical SPDI:: NC_000019.10:38899638:C:A
Gene:: NFKBIB (Varview), SIRT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38899639C>A, NC_000019.9:g.39390279C>A, NG_029624.1:g.4940C>A, NW_014040929.1:g.309311C>A, NM_012237.3:c.-118G>T, NM_030593.2:c.-182G>T, NM_001193286.1:c.-182G>T

Select item 14905255198.

rs1490525519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:38901118 (GRCh38)
19:39391758 (GRCh37)
Canonical SPDI:: NC_000019.10:38901117:C:G
Gene:: NFKBIB (Varview), SIRT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.38901118C>G, NC_000019.9:g.39391758C>G, NG_029624.1:g.6419C>G, NW_014040929.1:g.310790C>G

Select item 14904347919.

rs1490434791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38895218 (GRCh38)
19:39385858 (GRCh37)
Canonical SPDI:: NC_000019.10:38895217:C:T
Gene:: SIRT2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38895218C>T, NC_000019.9:g.39385858C>T, NG_029624.1:g.519C>T, NW_014040929.1:g.304890C>T

Select item 149030155910.

rs1490301559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38879210 (GRCh38)
19:39369850 (GRCh37)
Canonical SPDI:: NC_000019.10:38879209:G:A
Gene:: SIRT2 (Varview), RINL (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38879210G>A, NC_000019.9:g.39369850G>A, NW_014040929.1:g.288882G>A, NM_012237.4:c.1115C>T, NM_012237.3:c.1115C>T, NM_030593.3:c.1004C>T, NM_030593.2:c.1004C>T, XM_011526655.2:c.905C>T, XM_011526655.1:c.905C>T, XM_047438468.1:c.1004C>T, NM_001193286.1:c.*147C>T, NM_001193286.2:c.*147C>T, NR_034146.1:n.1340C>T, NP_036369.2:p.Ser372Phe, NP_085096.1:p.Ser335Phe, XP_011524957.1:p.Ser302Phe, XP_047294424.1:p.Ser335Phe

Select item 149016308311.

rs1490163083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38896324 (GRCh38)
19:39386964 (GRCh37)
Canonical SPDI:: NC_000019.10:38896323:T:C
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38896324T>C, NC_000019.9:g.39386964T>C, NG_029624.1:g.1625T>C, NW_014040929.1:g.305996T>C

Select item 149010931912.

rs1490109319 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 19:38893196 (GRCh38)
19:39383836 (GRCh37)
Canonical SPDI:: NC_000019.10:38893191:AGAGAGAG:AGAG,NC_000019.10:38893191:AGAGAGAG:AGAGAG
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000625/4 (1000Genomes)
-=0.001451/24 (TOMMO)
HGVS:: NC_000019.10:g.38893192AG[2], NC_000019.10:g.38893192AG[3], NC_000019.9:g.39383832AG[2], NC_000019.9:g.39383832AG[3], NW_014040929.1:g.302864AG[2], NW_014040929.1:g.302864AG[3]

Select item 148997942513.

rs1489979425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38894771 (GRCh38)
19:39385411 (GRCh37)
Canonical SPDI:: NC_000019.10:38894770:G:A
Gene:: SIRT2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38894771G>A, NC_000019.9:g.39385411G>A, NG_029624.1:g.72G>A, NW_014040929.1:g.304443G>A

Select item 148984234114.

rs1489842341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38900120 (GRCh38)
19:39390760 (GRCh37)
Canonical SPDI:: NC_000019.10:38900119:G:A
Gene:: NFKBIB (Varview), SIRT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_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=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.38900120G>A, NC_000019.9:g.39390760G>A, NG_029624.1:g.5421G>A, NM_002503.5:c.88G>A, NM_002503.4:c.88G>A, NR_040515.2:n.152G>A, NR_040515.1:n.191G>A, NM_001369699.1:c.88G>A, NM_001369700.1:c.88G>A, NW_014040929.1:g.309792G>A, XM_006723226.3:c.48G>A, XM_006723226.2:c.48G>A, XM_006723226.1:c.324G>A, NM_001001716.1:c.48G>A, NP_002494.2:p.Ala30Thr, NP_001356628.1:p.Ala30Thr, NP_001356629.1:p.Ala30Thr

Select item 148976410015.

rs1489764100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:38886686 (GRCh38)
19:39377326 (GRCh37)
Canonical SPDI:: NC_000019.10:38886685:A:C
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.38886686A>C, NC_000019.9:g.39377326A>C, NW_014040929.1:g.296358A>C

Select item 148925928316.

rs1489259283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:38879284 (GRCh38)
19:39369924 (GRCh37)
Canonical SPDI:: NC_000019.10:38879283:C:A
Gene:: SIRT2 (Varview), RINL (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38879284C>A, NC_000019.9:g.39369924C>A, NW_014040929.1:g.288956C>A, NM_012237.4:c.1041G>T, NM_012237.3:c.1041G>T, NM_030593.3:c.930G>T, NM_030593.2:c.930G>T, NM_001193286.2:c.*73G>T, NM_001193286.1:c.*73G>T, XM_011526655.2:c.831G>T, XM_011526655.1:c.831G>T, NR_034146.1:n.1266G>T, XM_047438468.1:c.930G>T, NP_036369.2:p.Arg347Ser, NP_085096.1:p.Arg310Ser, XP_011524957.1:p.Arg277Ser, XP_047294424.1:p.Arg310Ser

Select item 148898882617.

rs1488988826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38878936 (GRCh38)
19:39369576 (GRCh37)
Canonical SPDI:: NC_000019.10:38878935:A:G
Gene:: SIRT2 (Varview), RINL (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_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_000019.10:g.38878936A>G, NC_000019.9:g.39369576A>G, NW_014040929.1:g.288608A>G, NM_012237.4:c.*219T>C, NM_012237.3:c.*219T>C, NM_030593.3:c.*219T>C, NM_030593.2:c.*219T>C, XM_011526655.2:c.*219T>C, XM_011526655.1:c.*219T>C, XM_047438468.1:c.*219T>C, NM_001193286.1:c.*421T>C, NM_001193286.2:c.*421T>C, NR_034146.1:n.1614T>C

Select item 148884851518.

rs1488848515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38888804 (GRCh38)
19:39379444 (GRCh37)
Canonical SPDI:: NC_000019.10:38888803:G:A
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_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_000019.10:g.38888804G>A, NC_000019.9:g.39379444G>A, NW_014040929.1:g.298476G>A

Select item 148868921819.

rs1488689218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:38891256 (GRCh38)
19:39381896 (GRCh37)
Canonical SPDI:: NC_000019.10:38891255:G:A,NC_000019.10:38891255:G:T
Gene:: SIRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000318/5 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.38891256G>A, NC_000019.10:g.38891256G>T, NC_000019.9:g.39381896G>A, NC_000019.9:g.39381896G>T, NW_014040929.1:g.300928G>A, NW_014040929.1:g.300928G>T

Select item 148865916320.

rs1488659163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38899926 (GRCh38)
19:39390566 (GRCh37)
Canonical SPDI:: NC_000019.10:38899925:T:C
Gene:: NFKBIB (Varview), SIRT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38899926T>C, NC_000019.9:g.39390566T>C, NG_029624.1:g.5227T>C, NW_014040929.1:g.309598T>C

<< First< Prev

Page of 293

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5846

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity