SNP Links for Gene (Select 653188) - SNP

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Items: 1 to 20 of 1347

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Select item 14914548341.

rs1491454834 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:69674609 (GRCh38)
5:68970436 (GRCh37)
Canonical SPDI:: NC_000005.10:69674608:AA:
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00031/1 (GnomAD)
HGVS:: NC_000005.10:g.69674609_69674610del, NC_000005.9:g.68970436_68970437del

Select item 14913493872.

rs1491349387 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT,TTTT [Show Flanks]
Chromosome:: 5:69674602 (GRCh38)
5:68970430 (GRCh37)
Canonical SPDI:: NC_000005.10:69674602::T,NC_000005.10:69674602::TT,NC_000005.10:69674602::TTTT
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00008/1 (ALFA)
TT=0.00012/1 (TOMMO)
HGVS:: NC_000005.10:g.69674602_69674603insT, NC_000005.10:g.69674602_69674603insTT, NC_000005.10:g.69674602_69674603insTTTT, NC_000005.9:g.68970429_68970430insT, NC_000005.9:g.68970429_68970430insTT, NC_000005.9:g.68970429_68970430insTTTT

Select item 14913396563.

rs1491339656 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:69674602 (GRCh38)
5:68970429 (GRCh37)
Canonical SPDI:: NC_000005.10:69674601:AA:
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00083/10 (TOMMO)
HGVS:: NC_000005.10:g.69674602_69674603del, NC_000005.9:g.68970429_68970430del

Select item 14913107414.

rs1491310741 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAT,TAT,TATAT,TATATAT,TATATATAT,TATATATATAT,TATATATATATAT [Show Flanks]
Chromosome:: 5:69674609 (GRCh38)
5:68970437 (GRCh37)
Canonical SPDI:: NC_000005.10:69674609::T,NC_000005.10:69674609::TAAT,NC_000005.10:69674609::TAT,NC_000005.10:69674609::TATAT,NC_000005.10:69674609::TATATAT,NC_000005.10:69674609::TATATATAT,NC_000005.10:69674609::TATATATATAT,NC_000005.10:69674609::TATATATATATAT
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAT=0./0 (ALFA)
T=0.01144/13 (GnomAD)
T=0.01385/125 (TOMMO)
HGVS:: NC_000005.10:g.69674609_69674610insT, NC_000005.10:g.69674609_69674610insTAAT, NC_000005.10:g.69674609_69674610insTAT, NC_000005.10:g.69674609_69674610insTATAT, NC_000005.10:g.69674609_69674610insTATATAT, NC_000005.10:g.69674609_69674610insTATATATAT, NC_000005.10:g.69674609_69674610insTATATATATAT, NC_000005.10:g.69674609_69674610insTATATATATATAT, NC_000005.9:g.68970436_68970437insT, NC_000005.9:g.68970436_68970437insTAAT, NC_000005.9:g.68970436_68970437insTAT, NC_000005.9:g.68970436_68970437insTATAT, NC_000005.9:g.68970436_68970437insTATATAT, NC_000005.9:g.68970436_68970437insTATATATAT, NC_000005.9:g.68970436_68970437insTATATATATAT, NC_000005.9:g.68970436_68970437insTATATATATATAT

Select item 14908453415.

rs1490845341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:69674513 (GRCh38)
5:68970340 (GRCh37)
Canonical SPDI:: NC_000005.10:69674512:A:G
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00093/11 (ALFA)
G=0.00554/20 (TOMMO)
HGVS:: NC_000005.10:g.69674513A>G, NC_000005.9:g.68970340A>G

Select item 14904044356.

rs1490404435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:69671038 (GRCh38)
5:68966865 (GRCh37)
Canonical SPDI:: NC_000005.10:69671037:T:A
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00032/5 (TOMMO)
HGVS:: NC_000005.10:g.69671038T>A, NC_000005.9:g.68966865T>A

Select item 14903529427.

rs1490352942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:69673405 (GRCh38)
5:68969232 (GRCh37)
Canonical SPDI:: NC_000005.10:69673404:G:C
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.69673405G>C, NC_000005.9:g.68969232G>C

Select item 14901761198.

rs1490176119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:69685184 (GRCh38)
5:68981011 (GRCh37)
Canonical SPDI:: NC_000005.10:69685183:C:G,NC_000005.10:69685183:C:T
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.69685184C>G, NC_000005.10:g.69685184C>T, NC_000005.9:g.68981011C>G, NC_000005.9:g.68981011C>T

Select item 14896194849.

rs1489619484 [Homo sapiens]

Variant type:: SNV:
Alleles:: TAA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148935328710.

rs1489353287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:69671239 (GRCh38)
5:68967066 (GRCh37)
Canonical SPDI:: NC_000005.10:69671238:T:A
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000037/5 (GnomAD)
HGVS:: NC_000005.10:g.69671239T>A, NC_000005.9:g.68967066T>A

Select item 148934653411.

rs1489346534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:69640117 (GRCh38)
5:68935944 (GRCh37)
Canonical SPDI:: NC_000005.10:69640116:G:T
Gene:: GUSBP3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00005/1 (GnomAD)
HGVS:: NC_000005.10:g.69640117G>T, NC_000005.9:g.68935944G>T, NR_027386.2:n.897C>A, NR_027386.1:n.815C>A, NM_021652.2:c.*149C>A

Select item 148931556712.

rs1489315567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:69649645 (GRCh38)
5:68945472 (GRCh37)
Canonical SPDI:: NC_000005.10:69649644:C:T
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000017/2 (GnomAD)
HGVS:: NC_000005.10:g.69649645C>T, NC_000005.9:g.68945472C>T

Select item 148929549413.

rs1489295494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:69646299 (GRCh38)
5:68942126 (GRCh37)
Canonical SPDI:: NC_000005.10:69646298:C:G
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00169/20 (ALFA)
G=0.04443/358 (TOMMO)
G=0.20988/204 (KOREAN)
HGVS:: NC_000005.10:g.69646299C>G, NC_000005.9:g.68942126C>G

Select item 148908764114.

rs1489087641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:69639380 (GRCh38)
5:68935207 (GRCh37)
Canonical SPDI:: NC_000005.10:69639379:C:A,NC_000005.10:69639379:C:T
Gene:: GUSBP3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/3 (GnomAD)
T=0.000604/10 (TOMMO)
T=0.001838/5 (KOREAN)
HGVS:: NC_000005.10:g.69639380C>A, NC_000005.10:g.69639380C>T, NC_000005.9:g.68935207C>A, NC_000005.9:g.68935207C>T

Select item 148905746515.

rs1489057465 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:69646247 (GRCh38)
5:68942074 (GRCh37)
Canonical SPDI:: NC_000005.10:69646246:GG:G
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.00027/4 (TOMMO)
HGVS:: NC_000005.10:g.69646248del, NC_000005.9:g.68942075del

Select item 148895859416.

rs1488958594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:69671052 (GRCh38)
5:68966879 (GRCh37)
Canonical SPDI:: NC_000005.10:69671051:G:A,NC_000005.10:69671051:G:C
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.69671052G>A, NC_000005.10:g.69671052G>C, NC_000005.9:g.68966879G>A, NC_000005.9:g.68966879G>C

Select item 148802593217.

rs1488025932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:69702909 (GRCh38)
5:68998736 (GRCh37)
Canonical SPDI:: NC_000005.10:69702908:A:T
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.69702909A>T, NC_000005.9:g.68998736A>T

Select item 148794693618.

rs1487946936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:69681441 (GRCh38)
5:68977268 (GRCh37)
Canonical SPDI:: NC_000005.10:69681440:A:G
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00017/5 (GnomAD)
HGVS:: NC_000005.10:g.69681441A>G, NC_000005.9:g.68977268A>G

Select item 148769162019.

rs1487691620 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:69670648 (GRCh38)
5:68966475 (GRCh37)
Canonical SPDI:: NC_000005.10:69670647:A:C
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03507/416 (ALFA)
C=0.04051/35 (KOREAN)
C=0.05689/455 (TOMMO)
HGVS:: NC_000005.10:g.69670648A>C, NC_000005.9:g.68966475A>C

Select item 148758665420.

rs1487586654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:69695347 (GRCh38)
5:68991174 (GRCh37)
Canonical SPDI:: NC_000005.10:69695346:G:C
Gene:: GUSBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.0001/1 (TOMMO)
C=0.00016/1 (1000Genomes)
C=0.00023/16 (GnomAD)
HGVS:: NC_000005.10:g.69695347G>C, NC_000005.9:g.68991174G>C

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