SNP Links for Gene (Select 8533) - SNP

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Select item 14915725481.

rs1491572548 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:17256170 (GRCh38)
17:17159485 (GRCh37)
Canonical SPDI:: NC_000017.11:17256170:T:TT
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.17256171dup, NC_000017.10:g.17159485dup

Select item 14914591282.

rs1491459128 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:17270157 (GRCh38)
17:17173471 (GRCh37)
Canonical SPDI:: NC_000017.11:17270156:CA:
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.17270157_17270158del, NC_000017.10:g.17173471_17173472del

Select item 14914290343.

rs1491429034 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 17:17263511 (GRCh38)
17:17166826 (GRCh37)
Canonical SPDI:: NC_000017.11:17263511:TTT:TTTCTTT
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17263514_17263515insCTTT, NC_000017.10:g.17166828_17166829insCTTT

Select item 14913619674.

rs1491361967 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:17256172 (GRCh38)
17:17159486 (GRCh37)
Canonical SPDI:: NC_000017.11:17256169:CTCT:CT
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17256170CT[1], NC_000017.10:g.17159484CT[1]

Select item 14913088065.

rs1491308806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATGT,ATGT [Show Flanks]
Chromosome:: 17:17268866 (GRCh38)
17:17172181 (GRCh37)
Canonical SPDI:: NC_000017.11:17268866:T:TATATGT,NC_000017.11:17268866:T:TATGT
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATGT=0./0 (ALFA)
TATG=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17268867TA[2]TGT[1], NC_000017.11:g.17268867_17268868insATGT, NC_000017.10:g.17172181TA[2]TGT[1], NC_000017.10:g.17172181_17172182insATGT

Select item 14910474836.

rs1491047483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 17:17254815 (GRCh38)
17:17158130 (GRCh37)
Canonical SPDI:: NC_000017.11:17254815:AA:AAGAA
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0./0 (ALFA)
AAG=0.00061/10 (GnomAD)
HGVS:: NC_000017.11:g.17254817_17254818insGAA, NC_000017.10:g.17158131_17158132insGAA

Select item 14910393197.

rs1491039319 has merged into rs71152856 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 17:17263297 (GRCh38)
17:17166611 (GRCh37)
Canonical SPDI:: NC_000017.11:17263287:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:17263287:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:17263287:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:17263287:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:17263287:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:17263287:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.0003/2 (ALFA)
A=0.469/2349 (1000Genomes)
HGVS:: NC_000017.11:g.17263297_17263301del, NC_000017.11:g.17263299_17263301del, NC_000017.11:g.17263300_17263301del, NC_000017.11:g.17263301del, NC_000017.11:g.17263301dup, NC_000017.11:g.17263300_17263301dup, NC_000017.10:g.17166611_17166615del, NC_000017.10:g.17166613_17166615del, NC_000017.10:g.17166614_17166615del, NC_000017.10:g.17166615del, NC_000017.10:g.17166615dup, NC_000017.10:g.17166614_17166615dup

Select item 14908955018.

rs1490895501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:17277593 (GRCh38)
17:17180907 (GRCh37)
Canonical SPDI:: NC_000017.11:17277592:G:T
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17277593G>T, NC_000017.10:g.17180907G>T

Select item 14907590269.

rs1490759026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:17262286 (GRCh38)
17:17165600 (GRCh37)
Canonical SPDI:: NC_000017.11:17262285:G:C
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000264/4 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00005/7 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.17262286G>C, NC_000017.10:g.17165600G>C

Select item 149071958910.

rs1490719589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17262234 (GRCh38)
17:17165548 (GRCh37)
Canonical SPDI:: NC_000017.11:17262233:C:T
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17262234C>T, NC_000017.10:g.17165548C>T

Select item 149070817811.

rs1490708178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:17260211 (GRCh38)
17:17163525 (GRCh37)
Canonical SPDI:: NC_000017.11:17260210:C:G,NC_000017.11:17260210:C:T
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.17260211C>G, NC_000017.11:g.17260211C>T, NC_000017.10:g.17163525C>G, NC_000017.10:g.17163525C>T

Select item 149069552912.

rs1490695529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17246525 (GRCh38)
17:17149839 (GRCh37)
Canonical SPDI:: NC_000017.11:17246524:C:T
Gene:: COPS3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.17246525C>T, NC_000017.10:g.17149839C>T

Select item 149048846213.

rs1490488462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17268117 (GRCh38)
17:17171431 (GRCh37)
Canonical SPDI:: NC_000017.11:17268116:G:A
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17268117G>A, NC_000017.10:g.17171431G>A

Select item 149009422514.

rs1490094225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17275611 (GRCh38)
17:17178925 (GRCh37)
Canonical SPDI:: NC_000017.11:17275610:T:C
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.17275611T>C, NC_000017.10:g.17178925T>C

Select item 149007699615.

rs1490076996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17278092 (GRCh38)
17:17181406 (GRCh37)
Canonical SPDI:: NC_000017.11:17278091:A:G
Gene:: COPS3 (Varview)
Functional Consequence:: intron_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_000017.11:g.17278092A>G, NC_000017.10:g.17181406A>G

Select item 148992540516.

rs1489925405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:17248404 (GRCh38)
17:17151718 (GRCh37)
Canonical SPDI:: NC_000017.11:17248403:C:A
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17248404C>A, NC_000017.10:g.17151718C>A

Select item 148974694017.

rs1489746940 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAAATAAATAAATAACTGA,ATAAATAAATAACTGA,ATAAATAACTGA [Show Flanks]
Chromosome:: 17:17255880 (GRCh38)
17:17159195 (GRCh37)
Canonical SPDI:: NC_000017.11:17255880:A:AATAAATAAATAAATAACTGA,NC_000017.11:17255880:A:AATAAATAAATAACTGA,NC_000017.11:17255880:A:AATAAATAACTGA
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AATAAATAACTGA=0./0 (ALFA)
AATAAATAAATAAATAACTG=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.17255881AATA[4]ACTGA[1], NC_000017.11:g.17255881AATA[3]ACTGA[1], NC_000017.11:g.17255881AATA[2]ACTGA[1], NC_000017.10:g.17159195AATA[4]ACTGA[1], NC_000017.10:g.17159195AATA[3]ACTGA[1], NC_000017.10:g.17159195AATA[2]ACTGA[1]

Select item 148973752118.

rs1489737521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17279531 (GRCh38)
17:17182845 (GRCh37)
Canonical SPDI:: NC_000017.11:17279530:G:A
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.17279531G>A, NC_000017.10:g.17182845G>A

Select item 148968780419.

rs1489687804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:17280749 (GRCh38)
17:17184063 (GRCh37)
Canonical SPDI:: NC_000017.11:17280748:A:C,NC_000017.11:17280748:A:G
Gene:: COPS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00009/2 (ALFA)
HGVS:: NC_000017.11:g.17280749A>C, NC_000017.11:g.17280749A>G, NC_000017.10:g.17184063A>C, NC_000017.10:g.17184063A>G

Select item 148966285120.

rs1489662851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:17258168 (GRCh38)
17:17161482 (GRCh37)
Canonical SPDI:: NC_000017.11:17258167:C:A
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17258168C>A, NC_000017.10:g.17161482C>A

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