SNP Links for Gene (Select 9276) - SNP

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Select item 14915112191.

rs1491511219 has merged into rs1281823202 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:139386279 (GRCh38)
3:139105122 (GRCh37)
Canonical SPDI:: NC_000003.12:139386279:A:AA
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.003515/489 (GnomAD)
HGVS:: NC_000003.12:g.139386280dup, NC_000003.11:g.139105122dup

Select item 14914876182.

rs1491487618 has merged into rs905369799 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACACA,CACACACACA [Show Flanks]
Chromosome:: 3:139362591 (GRCh38)
3:139081433 (GRCh37)
Canonical SPDI:: NC_000003.12:139362589:ACACACACA:A,NC_000003.12:139362589:ACACACACA:ACACACA,NC_000003.12:139362589:ACACACACA:ACACACACACA
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0./0 (ALFA)
-=0.000223/59 (TOPMED)
HGVS:: NC_000003.12:g.139362591_139362598del, NC_000003.12:g.139362591CA[3], NC_000003.12:g.139362591CA[5], NC_000003.11:g.139081433_139081440del, NC_000003.11:g.139081433CA[3], NC_000003.11:g.139081433CA[5]

Select item 14914237083.

rs1491423708 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATA [Show Flanks]
Chromosome:: 3:139362575 (GRCh38)
3:139081418 (GRCh37)
Canonical SPDI:: NC_000003.12:139362575:ATA:ATAGATA
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAGATA=0./0 (ALFA)
ATAG=0.000004/1 (TOPMED)
ATAG=0.000022/1 (GnomAD)
HGVS:: NC_000003.12:g.139362578_139362579insGATA, NC_000003.11:g.139081420_139081421insGATA

Select item 14913646394.

rs1491364639 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:139360192 (GRCh38)
3:139079034 (GRCh37)
Canonical SPDI:: NC_000003.12:139360191:TA:
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.007/26 (TWINSUK)
-=0.0088/34 (ALSPAC)
HGVS:: NC_000003.12:g.139360192_139360193del, NC_000003.11:g.139079034_139079035del

Select item 14910864025.

rs1491086402 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:139374301 (GRCh38)
3:139093143 (GRCh37)
Canonical SPDI:: NC_000003.12:139374300:TG:
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00012/7 (GnomAD)
HGVS:: NC_000003.12:g.139374301_139374302del, NC_000003.11:g.139093143_139093144del

Select item 14910103396.

rs1491010339 has merged into rs71626097 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 3:139390908 (GRCh38)
3:139109750 (GRCh37)
Canonical SPDI:: NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:139390896:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: COPB2 (Varview), COPB2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1893/948 (1000Genomes)
HGVS:: NC_000003.12:g.139390908_139390913del, NC_000003.12:g.139390910_139390913del, NC_000003.12:g.139390911_139390913del, NC_000003.12:g.139390912_139390913del, NC_000003.12:g.139390913del, NC_000003.12:g.139390913dup, NC_000003.12:g.139390912_139390913dup, NC_000003.12:g.139390911_139390913dup, NC_000003.11:g.139109750_139109755del, NC_000003.11:g.139109752_139109755del, NC_000003.11:g.139109753_139109755del, NC_000003.11:g.139109754_139109755del, NC_000003.11:g.139109755del, NC_000003.11:g.139109755dup, NC_000003.11:g.139109754_139109755dup, NC_000003.11:g.139109753_139109755dup

Select item 14910025277.

rs1491002527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:139385509 (GRCh38)
3:139104351 (GRCh37)
Canonical SPDI:: NC_000003.12:139385508:A:C
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139385509A>C, NC_000003.11:g.139104351A>C

Select item 14909516748.

rs1490951674 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14908447399.

rs1490844739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:139361561 (GRCh38)
3:139080403 (GRCh37)
Canonical SPDI:: NC_000003.12:139361560:C:T
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.139361561C>T, NC_000003.11:g.139080403C>T

Select item 149077656710.

rs1490776567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:139379938 (GRCh38)
3:139098780 (GRCh37)
Canonical SPDI:: NC_000003.12:139379937:G:A
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.139379938G>A, NC_000003.11:g.139098780G>A

Select item 149066175411.

rs1490661754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:139372098 (GRCh38)
3:139090940 (GRCh37)
Canonical SPDI:: NC_000003.12:139372097:A:G
Gene:: COPB2 (Varview)
Functional Consequence:: intron_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_000003.12:g.139372098A>G, NC_000003.11:g.139090940A>G

Select item 149065457712.

rs1490654577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:139356193 (GRCh38)
3:139075035 (GRCh37)
Canonical SPDI:: NC_000003.12:139356192:G:A
Gene:: MRPS22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.139356193G>A, NC_000003.11:g.139075035G>A, NG_012174.1:g.17175G>A

Select item 149060177013.

rs1490601770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:139363354 (GRCh38)
3:139082196 (GRCh37)
Canonical SPDI:: NC_000003.12:139363353:A:G
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.139363354A>G, NC_000003.11:g.139082196A>G

Select item 149057093714.

rs1490570937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:139373162 (GRCh38)
3:139092004 (GRCh37)
Canonical SPDI:: NC_000003.12:139373161:A:G
Gene:: COPB2 (Varview)
Functional Consequence:: intron_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_000003.12:g.139373162A>G, NC_000003.11:g.139092004A>G

Select item 149041326415.

rs1490413264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:139366278 (GRCh38)
3:139085120 (GRCh37)
Canonical SPDI:: NC_000003.12:139366277:G:A
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.139366278G>A, NC_000003.11:g.139085120G>A

Select item 149033957816.

rs1490339578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:139371094 (GRCh38)
3:139089936 (GRCh37)
Canonical SPDI:: NC_000003.12:139371093:T:C
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.139371094T>C, NC_000003.11:g.139089936T>C

Select item 149023494117.

rs1490234941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:139388422 (GRCh38)
3:139107264 (GRCh37)
Canonical SPDI:: NC_000003.12:139388421:G:T
Gene:: COPB2 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139388422G>T, NC_000003.11:g.139107264G>T

Select item 149018475118.

rs1490184751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:139384240 (GRCh38)
3:139103082 (GRCh37)
Canonical SPDI:: NC_000003.12:139384239:C:T
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.139384240C>T, NC_000003.11:g.139103082C>T

Select item 149002053919.

rs1490020539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:139382952 (GRCh38)
3:139101794 (GRCh37)
Canonical SPDI:: NC_000003.12:139382951:A:G
Gene:: COPB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.139382952A>G, NC_000003.11:g.139101794A>G

Select item 148997254920.

rs1489972549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:139380232 (GRCh38)
3:139099074 (GRCh37)
Canonical SPDI:: NC_000003.12:139380231:G:A,NC_000003.12:139380231:G:C
Gene:: COPB2 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.139380232G>A, NC_000003.12:g.139380232G>C, NC_000003.11:g.139099074G>A, NC_000003.11:g.139099074G>C

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