SNP Links for Gene (Select 150678) - SNP

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Select item 14915458841.

rs1491545884 has merged into rs61660735 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 2:240136840 (GRCh38)
2:241076257 (GRCh37)
Canonical SPDI:: NC_000002.12:240136834:GGGGGGGGG:GGGGG,NC_000002.12:240136834:GGGGGGGGG:GGGGGG,NC_000002.12:240136834:GGGGGGGGG:GGGGGGG,NC_000002.12:240136834:GGGGGGGGG:GGGGGGGG,NC_000002.12:240136834:GGGGGGGGG:GGGGGGGGGG,NC_000002.12:240136834:GGGGGGGGG:GGGGGGGGGGG,NC_000002.12:240136834:GGGGGGGGG:GGGGGGGGGGGGG
Gene:: COPS9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
GG=0.315895/1582 (1000Genomes)
GG=0.341373/90358 (TOPMED)
GG=0.425/17 (GENOME_DK)
GG=0.460036/2049 (Estonian)
GG=0.488673/1812 (TWINSUK)
GG=0.493513/1902 (ALSPAC)
HGVS:: NC_000002.12:g.240136840_240136843del, NC_000002.12:g.240136841_240136843del, NC_000002.12:g.240136842_240136843del, NC_000002.12:g.240136843del, NC_000002.12:g.240136843dup, NC_000002.12:g.240136842_240136843dup, NC_000002.12:g.240136840_240136843dup, NC_000002.11:g.241076257_241076260del, NC_000002.11:g.241076258_241076260del, NC_000002.11:g.241076259_241076260del, NC_000002.11:g.241076260del, NC_000002.11:g.241076260dup, NC_000002.11:g.241076259_241076260dup, NC_000002.11:g.241076257_241076260dup

Select item 14911696912.

rs1491169691 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:240136842 (GRCh38)
2:241076260 (GRCh37)
Canonical SPDI:: NC_000002.12:240136842::C
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000098/13 (GnomAD)
C=0.000128/34 (TOPMED)
HGVS:: NC_000002.12:g.240136842_240136843insC, NC_000002.11:g.241076259_241076260insC

Select item 14906515973.

rs1490651597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240133855 (GRCh38)
2:241073272 (GRCh37)
Canonical SPDI:: NC_000002.12:240133854:C:T
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.240133855C>T, NC_000002.11:g.241073272C>T

Select item 14905321304.

rs1490532130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 2:240131730 (GRCh38)
2:241071148 (GRCh37)
Canonical SPDI:: NC_000002.12:240131730:TTTTT:TTTTTTT
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
TT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240131734_240131735dup, NC_000002.11:g.241071151_241071152dup

Select item 14899970345.

rs1489997034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:240127459 (GRCh38)
2:241066876 (GRCh37)
Canonical SPDI:: NC_000002.12:240127458:A:G
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.00046/8 (TOMMO)
HGVS:: NC_000002.12:g.240127459A>G, NC_000002.11:g.241066876A>G

Select item 14895423316.

rs1489542331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240135527 (GRCh38)
2:241074944 (GRCh37)
Canonical SPDI:: NC_000002.12:240135526:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.240135527T>C, NC_000002.11:g.241074944T>C

Select item 14892767587.

rs1489276758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240137576 (GRCh38)
2:241076993 (GRCh37)
Canonical SPDI:: NC_000002.12:240137575:C:T
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.240137576C>T, NC_000002.11:g.241076993C>T

Select item 14889137688.

rs1488913768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:240137804 (GRCh38)
2:241077221 (GRCh37)
Canonical SPDI:: NC_000002.12:240137803:A:C
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.240137804A>C, NC_000002.11:g.241077221A>C

Select item 14886593959.

rs1488659395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240137873 (GRCh38)
2:241077290 (GRCh37)
Canonical SPDI:: NC_000002.12:240137872:G:A
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240137873G>A, NC_000002.11:g.241077290G>A

Select item 148842177010.

rs1488421770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240133900 (GRCh38)
2:241073317 (GRCh37)
Canonical SPDI:: NC_000002.12:240133899:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240133900T>C, NC_000002.11:g.241073317T>C

Select item 148792723711.

rs1487927237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:240137986 (GRCh38)
2:241077403 (GRCh37)
Canonical SPDI:: NC_000002.12:240137985:T:G
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240137986T>G, NC_000002.11:g.241077403T>G

Select item 148686120812.

rs1486861208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240138009 (GRCh38)
2:241077426 (GRCh37)
Canonical SPDI:: NC_000002.12:240138008:G:A
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.240138009G>A, NC_000002.11:g.241077426G>A

Select item 148674038113.

rs1486740381 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:240132279 (GRCh38)
2:241071696 (GRCh37)
Canonical SPDI:: NC_000002.12:240132278:CCC:CC
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240132281del, NC_000002.11:g.241071698del

Select item 148673288914.

rs1486732889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:240129496 (GRCh38)
2:241068913 (GRCh37)
Canonical SPDI:: NC_000002.12:240129495:C:A,NC_000002.12:240129495:C:T
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240129496C>A, NC_000002.12:g.240129496C>T, NC_000002.11:g.241068913C>A, NC_000002.11:g.241068913C>T

Select item 148625922215.

rs1486259222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240129038 (GRCh38)
2:241068455 (GRCh37)
Canonical SPDI:: NC_000002.12:240129037:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.240129038T>C, NC_000002.11:g.241068455T>C

Select item 148611115016.

rs1486111150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240126063 (GRCh38)
2:241065480 (GRCh37)
Canonical SPDI:: NC_000002.12:240126062:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.240126063T>C, NC_000002.11:g.241065480T>C

Select item 148562970817.

rs1485629708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:240130731 (GRCh38)
2:241070148 (GRCh37)
Canonical SPDI:: NC_000002.12:240130730:G:A,NC_000002.12:240130730:G:C
Gene:: COPS9 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.240130731G>A, NC_000002.12:g.240130731G>C, NC_000002.11:g.241070148G>A, NC_000002.11:g.241070148G>C

Select item 148539824918.

rs1485398249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240136970 (GRCh38)
2:241076387 (GRCh37)
Canonical SPDI:: NC_000002.12:240136969:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.240136970T>C, NC_000002.11:g.241076387T>C

Select item 148533463719.

rs1485334637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240127731 (GRCh38)
2:241067148 (GRCh37)
Canonical SPDI:: NC_000002.12:240127730:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240127731T>C, NC_000002.11:g.241067148T>C

Select item 148516046520.

rs1485160465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240137542 (GRCh38)
2:241076959 (GRCh37)
Canonical SPDI:: NC_000002.12:240137541:G:A
Gene:: COPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.240137542G>A, NC_000002.11:g.241076959G>A

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