SNP Links for Gene (Select 474338) - SNP

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Select item 14907141571.

rs1490714157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:160318455 (GRCh38)
1:160288245 (GRCh37)
Canonical SPDI:: NC_000001.11:160318454:T:A
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00552/90 (ALFA)
A=0.00175/29 (TOMMO)
A=0.04312/126 (KOREAN)
HGVS:: NC_000001.11:g.160318455T>A, NC_000001.10:g.160288245T>A, NG_050927.1:g.30110A>T, NR_002190.1:n.1191T>A

Select item 14904694672.

rs1490469467 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCAGAAATGAATA>- [Show Flanks]
Chromosome:: 1:160318349 (GRCh38)
1:160288139 (GRCh37)
Canonical SPDI:: NC_000001.11:160318347:ATGCAGAAATGAATA:A
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160318349_160318362del, NC_000001.10:g.160288139_160288152del, NG_050927.1:g.30204_30217del, NR_002190.1:n.1085_1098del

Select item 14902803533.

rs1490280353 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:160318698 (GRCh38)
1:160288488 (GRCh37)
Canonical SPDI:: NC_000001.11:160318697:AAAAA:AAAA
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.160318702del, NC_000001.10:g.160288492del, NG_050927.1:g.29867del

Select item 14896841304.

rs1489684130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160317928 (GRCh38)
1:160287718 (GRCh37)
Canonical SPDI:: NC_000001.11:160317927:T:C
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000001.11:g.160317928T>C, NC_000001.10:g.160287718T>C, NG_050927.1:g.30637A>G, NR_002190.1:n.664T>C

Select item 14893877705.

rs1489387770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:160317665 (GRCh38)
1:160287455 (GRCh37)
Canonical SPDI:: NC_000001.11:160317664:G:A,NC_000001.11:160317664:G:T
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160317665G>A, NC_000001.11:g.160317665G>T, NC_000001.10:g.160287455G>A, NC_000001.10:g.160287455G>T, NG_050927.1:g.30900C>T, NG_050927.1:g.30900C>A, NR_002190.1:n.401G>A, NR_002190.1:n.401G>T

Select item 14891308996.

rs1489130899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:160318461 (GRCh38)
1:160288251 (GRCh37)
Canonical SPDI:: NC_000001.11:160318460:A:C
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.160318461A>C, NC_000001.10:g.160288251A>C, NG_050927.1:g.30104T>G, NR_002190.1:n.1197A>C

Select item 14889223847.

rs1488922384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160317945 (GRCh38)
1:160287735 (GRCh37)
Canonical SPDI:: NC_000001.11:160317944:C:T
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160317945C>T, NC_000001.10:g.160287735C>T, NG_050927.1:g.30620G>A, NR_002190.1:n.681C>T

Select item 14888761208.

rs1488876120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160316327 (GRCh38)
1:160286117 (GRCh37)
Canonical SPDI:: NC_000001.11:160316326:C:T
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.160316327C>T, NC_000001.10:g.160286117C>T, NG_050927.1:g.32238G>A

Select item 14883808809.

rs1488380880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:160316064 (GRCh38)
1:160285854 (GRCh37)
Canonical SPDI:: NC_000001.11:160316063:A:C
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160316064A>C, NC_000001.10:g.160285854A>C, NG_050927.1:g.32501T>G

Select item 148803947110.

rs1488039471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:160317221 (GRCh38)
1:160287012 (GRCh37)
Canonical SPDI:: NC_000001.11:160317221:T:TT
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160317222dup, NC_000001.10:g.160287012dup, NG_050927.1:g.31343dup

Select item 148746587611.

rs1487465876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160316916 (GRCh38)
1:160286706 (GRCh37)
Canonical SPDI:: NC_000001.11:160316915:A:G
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.160316916A>G, NC_000001.10:g.160286706A>G, NG_050927.1:g.31649T>C

Select item 148743691312.

rs1487436913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160315397 (GRCh38)
1:160285187 (GRCh37)
Canonical SPDI:: NC_000001.11:160315396:G:A
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.160315397G>A, NC_000001.10:g.160285187G>A, NG_050927.1:g.33168C>T

Select item 148742966013.

rs1487429660 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:160316578 (GRCh38)
1:160286368 (GRCh37)
Canonical SPDI:: NC_000001.11:160316577:CT:
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.160316578_160316579del, NC_000001.10:g.160286368_160286369del, NG_050927.1:g.31986_31987del

Select item 148704670514.

rs1487046705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:160316314 (GRCh38)
1:160286104 (GRCh37)
Canonical SPDI:: NC_000001.11:160316313:T:A,NC_000001.11:160316313:T:C
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
A=0.000389/7 (TOMMO)
HGVS:: NC_000001.11:g.160316314T>A, NC_000001.11:g.160316314T>C, NC_000001.10:g.160286104T>A, NC_000001.10:g.160286104T>C, NG_050927.1:g.32251A>T, NG_050927.1:g.32251A>G

Select item 148698338715.

rs1486983387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160316436 (GRCh38)
1:160286226 (GRCh37)
Canonical SPDI:: NC_000001.11:160316435:A:G
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160316436A>G, NC_000001.10:g.160286226A>G, NG_050927.1:g.32129T>C

Select item 148566920916.

rs1485669209 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAAAAAAAAAAAAAA>- [Show Flanks]
Chromosome:: 1:160318492 (GRCh38)
1:160288282 (GRCh37)
Canonical SPDI:: NC_000001.11:160318476:AAAAAAAAAAAAAAACAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0.00169/20 (ALFA)
-=0.00323/232 (GnomAD)
-=0.00337/56 (TOMMO)
-=0.00879/16 (Korea1K)
HGVS:: NC_000001.11:g.160318492_160318507del, NC_000001.10:g.160288282_160288297del, NG_050927.1:g.30073_30088del

Select item 148545989517.

rs1485459895 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:160315569 (GRCh38)
1:160285359 (GRCh37)
Canonical SPDI:: NC_000001.11:160315568:CCC:CC
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160315571del, NC_000001.10:g.160285361del, NG_050927.1:g.32996del

Select item 148482030518.

rs1484820305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACAAAAAAAAAAAAAAAA>- [Show Flanks]
Chromosome:: 1:160318490 (GRCh38)
1:160288280 (GRCh37)
Canonical SPDI:: NC_000001.11:160318473:AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0.0086/102 (ALFA)
-=0.01446/1097 (GnomAD)
HGVS:: NC_000001.11:g.160318490_160318508del, NC_000001.10:g.160288280_160288298del, NG_050927.1:g.30073_30091del

Select item 148458413719.

rs1484584137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160318578 (GRCh38)
1:160288368 (GRCh37)
Canonical SPDI:: NC_000001.11:160318577:C:A
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.160318578C>A, NC_000001.10:g.160288368C>A, NG_050927.1:g.29987G>T

Select item 148085195820.

rs1480851958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160318447 (GRCh38)
1:160288237 (GRCh37)
Canonical SPDI:: NC_000001.11:160318446:C:A
Gene:: COPA (Varview), SUMO1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00166/47 (TOMMO)
A=0.01198/35 (KOREAN)
HGVS:: NC_000001.11:g.160318447C>A, NC_000001.10:g.160288237C>A, NG_050927.1:g.30118G>T, NR_002190.1:n.1183C>A

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