SNP Links for Gene (Select 10980) - SNP

Links from Gene

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Select item 14912384741.

rs1491238474 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:100092305 (GRCh38)
7:99689929 (GRCh37)
Canonical SPDI:: NC_000007.14:100092305:A:AA
Gene:: MCM7 (Varview), COPS6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100092306dup, NC_000007.13:g.99689929dup, NG_046973.1:g.8347dup

Select item 14912091152.

rs1491209115 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 7:100092306 (GRCh38)
7:99689929 (GRCh37)
Canonical SPDI:: NC_000007.14:100092304:GAGAG:G,NC_000007.14:100092304:GAGAG:GAG
Gene:: MCM7 (Varview), COPS6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.100092306_100092309del, NC_000007.14:g.100092306AG[1], NC_000007.13:g.99689929_99689932del, NC_000007.13:g.99689929AG[1], NG_046973.1:g.8347_8350del, NG_046973.1:g.8347AG[1]

Select item 14907003623.

rs1490700362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100090508 (GRCh38)
7:99688131 (GRCh37)
Canonical SPDI:: NC_000007.14:100090507:G:A
Gene:: COPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100090508G>A, NC_000007.13:g.99688131G>A, NG_046973.1:g.6549G>A

Select item 14900959944.

rs1490095994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100092457 (GRCh38)
7:99690080 (GRCh37)
Canonical SPDI:: NC_000007.14:100092456:T:C
Gene:: MCM7 (Varview), COPS6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100092457T>C, NC_000007.13:g.99690080T>C, NG_046973.1:g.8498T>C

Select item 14892620595.

rs1489262059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100089736 (GRCh38)
7:99687359 (GRCh37)
Canonical SPDI:: NC_000007.14:100089735:G:A
Gene:: COPS6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.100089736G>A, NC_000007.13:g.99687359G>A, NG_046973.1:g.5777G>A, NM_006833.5:c.324G>A, NM_006833.4:c.324G>A

Select item 14889840946.

rs1488984094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:100092361 (GRCh38)
7:99689984 (GRCh37)
Canonical SPDI:: NC_000007.14:100092360:C:G,NC_000007.14:100092360:C:T
Gene:: MCM7 (Varview), COPS6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.100092361C>G, NC_000007.14:g.100092361C>T, NC_000007.13:g.99689984C>G, NC_000007.13:g.99689984C>T, NG_046973.1:g.8402C>G, NG_046973.1:g.8402C>T

Select item 14888895027.

rs1488889502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100088703 (GRCh38)
7:99686326 (GRCh37)
Canonical SPDI:: NC_000007.14:100088702:T:C
Gene:: COPS6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100088703T>C, NC_000007.13:g.99686326T>C, NG_046973.1:g.4744T>C

Select item 14888453538.

rs1488845353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100088990 (GRCh38)
7:99686613 (GRCh37)
Canonical SPDI:: NC_000007.14:100088989:A:G
Gene:: COPS6 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100088990A>G, NC_000007.13:g.99686613A>G, NG_046973.1:g.5031A>G, NM_006833.5:c.-1A>G, NM_006833.4:c.-1A>G

Select item 14887800599.

rs1488780059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100092133 (GRCh38)
7:99689756 (GRCh37)
Canonical SPDI:: NC_000007.14:100092132:C:T
Gene:: COPS6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100092133C>T, NC_000007.13:g.99689756C>T, NG_046973.1:g.8174C>T, NM_006833.5:c.*344C>T, NM_006833.4:c.*344C>T

Select item 148833389410.

rs1488333894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:100088961 (GRCh38)
7:99686584 (GRCh37)
Canonical SPDI:: NC_000007.14:100088960:G:A,NC_000007.14:100088960:G:T
Gene:: COPS6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.100088961G>A, NC_000007.14:g.100088961G>T, NC_000007.13:g.99686584G>A, NC_000007.13:g.99686584G>T, NG_046973.1:g.5002G>A, NG_046973.1:g.5002G>T, NM_006833.4:c.-30G>A, NM_006833.4:c.-30G>T

Select item 148833198211.

rs1488331982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100091765 (GRCh38)
7:99689388 (GRCh37)
Canonical SPDI:: NC_000007.14:100091764:G:A
Gene:: COPS6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.100091765G>A, NC_000007.13:g.99689388G>A, NG_046973.1:g.7806G>A, NM_006833.5:c.960G>A, NM_006833.4:c.960G>A, NG_074285.1:g.440G>A

Select item 148751231612.

rs1487512316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100089339 (GRCh38)
7:99686962 (GRCh37)
Canonical SPDI:: NC_000007.14:100089338:T:C
Gene:: COPS6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.100089339T>C, NC_000007.13:g.99686962T>C, NG_046973.1:g.5380T>C, NM_006833.5:c.126T>C, NM_006833.4:c.126T>C

Select item 148722805613.

rs1487228056 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGC [Show Flanks]
Chromosome:: 7:100091347 (GRCh38)
7:99688971 (GRCh37)
Canonical SPDI:: NC_000007.14:100091347:CTGGC:CTGGCTGGC
Gene:: COPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGGCTGGC=0./0 (ALFA)
CTGG=0.000004/1 (GnomAD_exomes)
CTGG=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100091349_100091352dup, NC_000007.13:g.99688972_99688975dup, NG_046973.1:g.7390_7393dup, NG_074285.1:g.24_27dup

Select item 148721048914.

rs1487210489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100092596 (GRCh38)
7:99690219 (GRCh37)
Canonical SPDI:: NC_000007.14:100092595:T:C
Gene:: MCM7 (Varview), COPS6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100092596T>C, NC_000007.13:g.99690219T>C, NG_046973.1:g.8637T>C

Select item 148719786115.

rs1487197861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:100090393 (GRCh38)
7:99688016 (GRCh37)
Canonical SPDI:: NC_000007.14:100090392:C:A,NC_000007.14:100090392:C:G
Gene:: COPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100090393C>A, NC_000007.14:g.100090393C>G, NC_000007.13:g.99688016C>A, NC_000007.13:g.99688016C>G, NG_046973.1:g.6434C>A, NG_046973.1:g.6434C>G

Select item 148484925316.

rs1484849253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100090370 (GRCh38)
7:99687993 (GRCh37)
Canonical SPDI:: NC_000007.14:100090369:A:G
Gene:: COPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.100090370A>G, NC_000007.13:g.99687993A>G, NG_046973.1:g.6411A>G

Select item 148422032417.

rs1484220324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:100092536 (GRCh38)
7:99690159 (GRCh37)
Canonical SPDI:: NC_000007.14:100092535:A:C,NC_000007.14:100092535:A:G
Gene:: MCM7 (Varview), COPS6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100092536A>C, NC_000007.14:g.100092536A>G, NC_000007.13:g.99690159A>C, NC_000007.13:g.99690159A>G, NG_046973.1:g.8577A>C, NG_046973.1:g.8577A>G

Select item 148413710118.

rs1484137101 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAA>- [Show Flanks]
Chromosome:: 7:100088522 (GRCh38)
7:99686145 (GRCh37)
Canonical SPDI:: NC_000007.14:100088509:AAACAAAACAAAACAAA:AAACAAAACAAA
Gene:: COPS6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAAACAAA=0.000432/8 (ALFA)
-=0.000094/25 (TOPMED)
-=0.000164/23 (GnomAD)
-=0.001786/8 (Estonian)
HGVS:: NC_000007.14:g.100088512ACAAA[2], NC_000007.13:g.99686135ACAAA[2], NG_046973.1:g.4553ACAAA[2]

Select item 148357096619.

rs1483570966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100088933 (GRCh38)
7:99686556 (GRCh37)
Canonical SPDI:: NC_000007.14:100088932:C:T
Gene:: COPS6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000007.14:g.100088933C>T, NC_000007.13:g.99686556C>T, NG_046973.1:g.4974C>T

Select item 148298686120.

rs1482986861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100087279 (GRCh38)
7:99684902 (GRCh37)
Canonical SPDI:: NC_000007.14:100087278:C:T
Gene:: COPS6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100087279C>T, NC_000007.13:g.99684902C>T, NG_046973.1:g.3320C>T

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