SNP Links for Gene (Select 201292) - SNP

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Select item 14915117011.

rs1491511701 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:75888167 (GRCh38)
17:73884249 (GRCh37)
Canonical SPDI:: NC_000017.11:75888167::T
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00007/5 (GnomAD)
HGVS:: NC_000017.11:g.75888167_75888168insT, NC_000017.10:g.73884248_73884249insT

Select item 14914600542.

rs1491460054 has merged into rs537579897 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:75886531 (GRCh38)
17:73882612 (GRCh37)
Canonical SPDI:: NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75886521:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRIM65 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.4447/2227 (1000Genomes)
HGVS:: NC_000017.11:g.75886531_75886542del, NC_000017.11:g.75886533_75886542del, NC_000017.11:g.75886535_75886542del, NC_000017.11:g.75886536_75886542del, NC_000017.11:g.75886537_75886542del, NC_000017.11:g.75886538_75886542del, NC_000017.11:g.75886539_75886542del, NC_000017.11:g.75886540_75886542del, NC_000017.11:g.75886541_75886542del, NC_000017.11:g.75886542del, NC_000017.11:g.75886542dup, NC_000017.11:g.75886541_75886542dup, NC_000017.11:g.75886540_75886542dup, NC_000017.11:g.75886539_75886542dup, NC_000017.11:g.75886536_75886542dup, NC_000017.11:g.75886535_75886542dup, NC_000017.10:g.73882612_73882623del, NC_000017.10:g.73882614_73882623del, NC_000017.10:g.73882616_73882623del, NC_000017.10:g.73882617_73882623del, NC_000017.10:g.73882618_73882623del, NC_000017.10:g.73882619_73882623del, NC_000017.10:g.73882620_73882623del, NC_000017.10:g.73882621_73882623del, NC_000017.10:g.73882622_73882623del, NC_000017.10:g.73882623del, NC_000017.10:g.73882623dup, NC_000017.10:g.73882622_73882623dup, NC_000017.10:g.73882621_73882623dup, NC_000017.10:g.73882620_73882623dup, NC_000017.10:g.73882617_73882623dup, NC_000017.10:g.73882616_73882623dup

Select item 14914357563.

rs1491435756 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:75888168 (GRCh38)
17:73884249 (GRCh37)
Canonical SPDI:: NC_000017.11:75888166:AAA:A
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00384/277 (GnomAD)
HGVS:: NC_000017.11:g.75888168_75888169del, NC_000017.10:g.73884249_73884250del

Select item 14913611374.

rs1491361137 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:75887154 (GRCh38)
17:73883235 (GRCh37)
Canonical SPDI:: NC_000017.11:75887153:TA:
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.75887154_75887155del, NC_000017.10:g.73883235_73883236del

Select item 14913518955.

rs1491351895 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:75886521 (GRCh38)
17:73882602 (GRCh37)
Canonical SPDI:: NC_000017.11:75886520:CA:
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000017.11:g.75886521_75886522del, NC_000017.10:g.73882602_73882603del

Select item 14913346516.

rs1491334651 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:75890092 (GRCh38)
17:73886173 (GRCh37)
Canonical SPDI:: NC_000017.11:75890090:TGT:T
Gene:: TRIM65 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.75890092_75890093del, NC_000017.10:g.73886173_73886174del, XM_006721760.4:c.*687_*688del, XM_006721760.3:c.*687_*688del, XM_006721760.2:c.*687_*688del, XM_006721760.1:c.*687_*688del, NM_173547.4:c.*687_*688del, NM_173547.3:c.*687_*688del, XM_006721761.4:c.*687_*688del, XM_006721761.3:c.*687_*688del, XM_006721761.2:c.*687_*688del, XM_006721761.1:c.*687_*688del, XM_011524503.3:c.*1241_*1242del, NM_001256124.2:c.*687_*688del, NM_001256124.1:c.*687_*688del, XM_017024344.2:c.*1241_*1242del, XM_017024344.1:c.*1241_*1242del, XM_047435580.1:c.*687_*688del, XM_047435581.1:c.*687_*688del

Select item 14912940837.

rs1491294083 has merged into rs5822108 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:75887169 (GRCh38)
17:73883250 (GRCh37)
Canonical SPDI:: NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75887154:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRIM65 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2638/1321 (1000Genomes)
HGVS:: NC_000017.11:g.75887169_75887174del, NC_000017.11:g.75887170_75887174del, NC_000017.11:g.75887171_75887174del, NC_000017.11:g.75887172_75887174del, NC_000017.11:g.75887173_75887174del, NC_000017.11:g.75887174del, NC_000017.11:g.75887174dup, NC_000017.11:g.75887173_75887174dup, NC_000017.11:g.75887172_75887174dup, NC_000017.11:g.75887171_75887174dup, NC_000017.11:g.75887170_75887174dup, NC_000017.10:g.73883250_73883255del, NC_000017.10:g.73883251_73883255del, NC_000017.10:g.73883252_73883255del, NC_000017.10:g.73883253_73883255del, NC_000017.10:g.73883254_73883255del, NC_000017.10:g.73883255del, NC_000017.10:g.73883255dup, NC_000017.10:g.73883254_73883255dup, NC_000017.10:g.73883253_73883255dup, NC_000017.10:g.73883252_73883255dup, NC_000017.10:g.73883251_73883255dup

Select item 14912287628.

rs1491228762 has merged into rs1215286533 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 17:75882994 (GRCh38)
17:73879075 (GRCh37)
Canonical SPDI:: NC_000017.11:75882993:AAAAA:AAAA,NC_000017.11:75882993:AAAAA:AAAAAA,NC_000017.11:75882993:AAAAA:AAAAAAA
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.75882998del, NC_000017.11:g.75882998dup, NC_000017.11:g.75882997_75882998dup, NC_000017.10:g.73879079del, NC_000017.10:g.73879079dup, NC_000017.10:g.73879078_73879079dup

Select item 14911728619.

rs1491172861 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 17:75890091 (GRCh38)
17:73886173 (GRCh37)
Canonical SPDI:: NC_000017.11:75890091::CA
Gene:: TRIM65 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: CA=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75890091_75890092insCA, NC_000017.10:g.73886172_73886173insCA, XM_006721760.4:c.*687_*688insTG, XM_006721760.3:c.*687_*688insTG, XM_006721760.2:c.*687_*688insTG, XM_006721760.1:c.*687_*688insTG, NM_173547.4:c.*687_*688insTG, NM_173547.3:c.*687_*688insTG, XM_006721761.4:c.*687_*688insTG, XM_006721761.3:c.*687_*688insTG, XM_006721761.2:c.*687_*688insTG, XM_006721761.1:c.*687_*688insTG, XM_011524503.3:c.*1241_*1242insTG, NM_001256124.2:c.*687_*688insTG, NM_001256124.1:c.*687_*688insTG, XM_017024344.2:c.*1241_*1242insTG, XM_017024344.1:c.*1241_*1242insTG, XM_047435580.1:c.*687_*688insTG, XM_047435581.1:c.*687_*688insTG

Select item 149099477610.

rs1490994776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75881222 (GRCh38)
17:73877303 (GRCh37)
Canonical SPDI:: NC_000017.11:75881221:C:T
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000422/5 (ALFA)
T=0.00006/1 (TOMMO)
T=0.00019/22 (GnomAD)
HGVS:: NC_000017.11:g.75881222C>T, NC_000017.10:g.73877303C>T

Select item 149094393811.

rs1490943938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75883327 (GRCh38)
17:73879408 (GRCh37)
Canonical SPDI:: NC_000017.11:75883326:G:A
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.0004/2 (Estonian)
HGVS:: NC_000017.11:g.75883327G>A, NC_000017.10:g.73879408G>A

Select item 149092396312.

rs1490923963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75891028 (GRCh38)
17:73887109 (GRCh37)
Canonical SPDI:: NC_000017.11:75891027:C:T
Gene:: TRIM65 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,3_prime_UTR_variant,intron_variant
HGVS:: NC_000017.11:g.75891028C>T, NC_000017.10:g.73887109C>T, XM_006721760.4:c.1344G>A, XM_006721760.3:c.1344G>A, XM_006721760.2:c.1344G>A, XM_006721760.1:c.1344G>A, NM_173547.4:c.1305G>A, NM_173547.3:c.1305G>A, XM_006721761.4:c.1278G>A, XM_006721761.3:c.1278G>A, XM_006721761.2:c.1278G>A, XM_006721761.1:c.1278G>A, XM_011524503.3:c.*305G>A, NM_001256124.2:c.1239G>A, NM_001256124.1:c.1239G>A, XM_017024344.2:c.*305G>A, XM_017024344.1:c.*305G>A, XM_047435580.1:c.1476G>A, XM_047435581.1:c.1437G>A, XP_006721823.1:p.Trp448Ter, NP_775818.2:p.Trp435Ter, XP_006721824.1:p.Trp426Ter, NP_001243053.1:p.Trp413Ter, XP_047291536.1:p.Trp492Ter, XP_047291537.1:p.Trp479Ter

Select item 149064996713.

rs1490649967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75896108 (GRCh38)
17:73892189 (GRCh37)
Canonical SPDI:: NC_000017.11:75896107:T:C
Gene:: TRIM65 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.75896108T>C, NC_000017.10:g.73892189T>C

Select item 149055844514.

rs1490558445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75882101 (GRCh38)
17:73878182 (GRCh37)
Canonical SPDI:: NC_000017.11:75882100:A:G
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75882101A>G, NC_000017.10:g.73878182A>G

Select item 149055843615.

rs1490558436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75895576 (GRCh38)
17:73891657 (GRCh37)
Canonical SPDI:: NC_000017.11:75895575:T:C
Gene:: TRIM65 (Varview)
Functional Consequence:: intron_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_000017.11:g.75895576T>C, NC_000017.10:g.73891657T>C

Select item 149053339616.

rs1490533396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75897270 (GRCh38)
17:73893351 (GRCh37)
Canonical SPDI:: NC_000017.11:75897269:G:C
Gene:: TRIM65 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.75897270G>C, NC_000017.10:g.73893351G>C

Select item 149035003017.

rs1490350030 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCTCCATCCA [Show Flanks]
Chromosome:: 17:75894266 (GRCh38)
17:73890348 (GRCh37)
Canonical SPDI:: NC_000017.11:75894266:CCATCCTCCATCCA:CCATCCTCCATCCATCCTCCATCCA
Gene:: TRIM65 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCATCCTCCATCCATCCTCCATCCA=0./0 (ALFA)
CCATCCTCCAT=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75894270_75894280dup, NC_000017.10:g.73890351_73890361dup

Select item 149024991818.

rs1490249918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75881245 (GRCh38)
17:73877326 (GRCh37)
Canonical SPDI:: NC_000017.11:75881244:A:G
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00084/10 (ALFA)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.75881245A>G, NC_000017.10:g.73877326A>G

Select item 149023114419.

rs1490231144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:75897102 (GRCh38)
17:73893183 (GRCh37)
Canonical SPDI:: NC_000017.11:75897101:C:G,NC_000017.11:75897101:C:T
Gene:: TRIM65 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75897102C>G, NC_000017.11:g.75897102C>T, NC_000017.10:g.73893183C>G, NC_000017.10:g.73893183C>T

Select item 149019907820.

rs1490199078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75882248 (GRCh38)
17:73878329 (GRCh37)
Canonical SPDI:: NC_000017.11:75882247:C:T
Gene:: TRIM65 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75882248C>T, NC_000017.10:g.73878329C>T

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