SNP Links for Gene (Select 22796) - SNP

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Select item 14911929271.

rs1491192927 has merged into rs57806034 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:230645243 (GRCh38)
1:230780989 (GRCh37)
Canonical SPDI:: NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.230645243_230645256del, NC_000001.11:g.230645244_230645256del, NC_000001.11:g.230645246_230645256del, NC_000001.11:g.230645247_230645256del, NC_000001.11:g.230645248_230645256del, NC_000001.11:g.230645249_230645256del, NC_000001.11:g.230645250_230645256del, NC_000001.11:g.230645251_230645256del, NC_000001.11:g.230645252_230645256del, NC_000001.11:g.230645253_230645256del, NC_000001.11:g.230645254_230645256del, NC_000001.11:g.230645255_230645256del, NC_000001.11:g.230645256del, NC_000001.11:g.230645256dup, NC_000001.11:g.230645255_230645256dup, NC_000001.11:g.230645254_230645256dup, NC_000001.11:g.230645253_230645256dup, NC_000001.11:g.230645252_230645256dup, NC_000001.11:g.230645251_230645256dup, NC_000001.11:g.230645250_230645256dup, NC_000001.11:g.230645248_230645256dup, NC_000001.11:g.230645239_230645256dup, NC_000001.11:g.230645234_230645256dup, NC_000001.11:g.230645256_230645257insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.230780989_230781002del, NC_000001.10:g.230780990_230781002del, NC_000001.10:g.230780992_230781002del, NC_000001.10:g.230780993_230781002del, NC_000001.10:g.230780994_230781002del, NC_000001.10:g.230780995_230781002del, NC_000001.10:g.230780996_230781002del, NC_000001.10:g.230780997_230781002del, NC_000001.10:g.230780998_230781002del, NC_000001.10:g.230780999_230781002del, NC_000001.10:g.230781000_230781002del, NC_000001.10:g.230781001_230781002del, NC_000001.10:g.230781002del, NC_000001.10:g.230781002dup, NC_000001.10:g.230781001_230781002dup, NC_000001.10:g.230781000_230781002dup, NC_000001.10:g.230780999_230781002dup, NC_000001.10:g.230780998_230781002dup, NC_000001.10:g.230780997_230781002dup, NC_000001.10:g.230780996_230781002dup, NC_000001.10:g.230780994_230781002dup, NC_000001.10:g.230780985_230781002dup, NC_000001.10:g.230780980_230781002dup, NC_000001.10:g.230781002_230781003insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911541712.

rs1491154171 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:230645233 (GRCh38)
1:230780979 (GRCh37)
Canonical SPDI:: NC_000001.11:230645232:CA:
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01745/207 (ALFA)
-=0.00338/56 (TOMMO)
HGVS:: NC_000001.11:g.230645233_230645234del, NC_000001.10:g.230780979_230780980del

Select item 14909410793.

rs1490941079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:230668695 (GRCh38)
1:230804441 (GRCh37)
Canonical SPDI:: NC_000001.11:230668694:A:G
Gene:: COG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.230668695A>G, NC_000001.10:g.230804441A>G, NM_007357.3:c.505A>G, NM_007357.2:c.505A>G, NM_001145036.2:c.505A>G, NM_001145036.1:c.505A>G, XM_047449445.1:c.166A>G, NP_031383.1:p.Ile169Val, NP_001138508.1:p.Ile169Val, XP_047305401.1:p.Ile56Val

Select item 14908432924.

rs1490843292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:230690107 (GRCh38)
1:230825853 (GRCh37)
Canonical SPDI:: NC_000001.11:230690106:A:G
Gene:: COG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.230690107A>G, NC_000001.10:g.230825853A>G, NM_007357.3:c.1888A>G, NM_007357.2:c.1888A>G, NM_001145036.2:c.1885A>G, NM_001145036.1:c.1885A>G, XM_047449445.1:c.1549A>G, NP_031383.1:p.Ile630Val, NP_001138508.1:p.Ile629Val, XP_047305401.1:p.Ile517Val

Select item 14907257385.

rs1490725738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:230647547 (GRCh38)
1:230783293 (GRCh37)
Canonical SPDI:: NC_000001.11:230647546:C:T
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.230647547C>T, NC_000001.10:g.230783293C>T

Select item 14905719686.

rs1490571968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:230645244 (GRCh38)
1:230780990 (GRCh37)
Canonical SPDI:: NC_000001.11:230645243:A:T
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.230645244A>T, NC_000001.10:g.230780990A>T

Select item 14905463427.

rs1490546342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:230663239 (GRCh38)
1:230798985 (GRCh37)
Canonical SPDI:: NC_000001.11:230663238:A:C
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.230663239A>C, NC_000001.10:g.230798985A>C

Select item 14905105018.

rs1490510501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:230664052 (GRCh38)
1:230799798 (GRCh37)
Canonical SPDI:: NC_000001.11:230664051:G:A
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.230664052G>A, NC_000001.10:g.230799798G>A

Select item 14904991629.

rs1490499162 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:230673930 (GRCh38)
1:230809677 (GRCh37)
Canonical SPDI:: NC_000001.11:230673930:AA:AAA
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.230673932dup, NC_000001.10:g.230809678dup

Select item 149049615310.

rs1490496153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:230662376 (GRCh38)
1:230798122 (GRCh37)
Canonical SPDI:: NC_000001.11:230662375:G:A,NC_000001.11:230662375:G:T
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.230662376G>A, NC_000001.11:g.230662376G>T, NC_000001.10:g.230798122G>A, NC_000001.10:g.230798122G>T

Select item 149033583711.

rs1490335837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:230673357 (GRCh38)
1:230809103 (GRCh37)
Canonical SPDI:: NC_000001.11:230673356:C:T
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.230673357C>T, NC_000001.10:g.230809103C>T

Select item 149023678312.

rs1490236783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:230642706 (GRCh38)
1:230778452 (GRCh37)
Canonical SPDI:: NC_000001.11:230642705:C:G,NC_000001.11:230642705:C:T
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.230642706C>G, NC_000001.11:g.230642706C>T, NC_000001.10:g.230778452C>G, NC_000001.10:g.230778452C>T

Select item 149020048413.

rs1490200484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:230664654 (GRCh38)
1:230800400 (GRCh37)
Canonical SPDI:: NC_000001.11:230664653:T:G
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.230664654T>G, NC_000001.10:g.230800400T>G

Select item 149016186914.

rs1490161869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:230640964 (GRCh38)
1:230776710 (GRCh37)
Canonical SPDI:: NC_000001.11:230640963:G:A,NC_000001.11:230640963:G:C,NC_000001.11:230640963:G:T
Gene:: COG2 (Varview), LOC124904545 (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)
A=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.230640964G>A, NC_000001.11:g.230640964G>C, NC_000001.11:g.230640964G>T, NC_000001.10:g.230776710G>A, NC_000001.10:g.230776710G>C, NC_000001.10:g.230776710G>T

Select item 149013789615.

rs1490137896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:230655302 (GRCh38)
1:230791048 (GRCh37)
Canonical SPDI:: NC_000001.11:230655301:C:A,NC_000001.11:230655301:C:G
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.230655302C>A, NC_000001.11:g.230655302C>G, NC_000001.10:g.230791048C>A, NC_000001.10:g.230791048C>G

Select item 149011350116.

rs1490113501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:230656494 (GRCh38)
1:230792240 (GRCh37)
Canonical SPDI:: NC_000001.11:230656493:C:T
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.230656494C>T, NC_000001.10:g.230792240C>T

Select item 149009628917.

rs1490096289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:230644022 (GRCh38)
1:230779768 (GRCh37)
Canonical SPDI:: NC_000001.11:230644021:T:C
Gene:: COG2 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.230644022T>C, NC_000001.10:g.230779768T>C

Select item 149008118318.

rs1490081183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:230646152 (GRCh38)
1:230781898 (GRCh37)
Canonical SPDI:: NC_000001.11:230646151:G:C
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.230646152G>C, NC_000001.10:g.230781898G>C

Select item 149002030719.

rs1490020307 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:230663475 (GRCh38)
1:230799221 (GRCh37)
Canonical SPDI:: NC_000001.11:230663474:CC:C
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.230663476del, NC_000001.10:g.230799222del

Select item 148986544220.

rs1489865442 has merged into rs561247905 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:230689019 (GRCh38)
1:230824765 (GRCh37)
Canonical SPDI:: NC_000001.11:230689018:AAAAAAAA:AAAAAAA,NC_000001.11:230689018:AAAAAAAA:AAAAAAAAA
Gene:: COG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000998/5 (1000Genomes)
HGVS:: NC_000001.11:g.230689026del, NC_000001.11:g.230689026dup, NC_000001.10:g.230824772del, NC_000001.10:g.230824772dup

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