SNP Links for Gene (Select 4999) - SNP

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Select item 14915718101.

rs1491571810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 2:200909723 (GRCh38)
2:201774447 (GRCh37)
Canonical SPDI:: NC_000002.12:200909723:TAA:TAATAA
Gene:: ORC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAA=0./0 (ALFA)
TAA=0.000004/1 (TOPMED)
TAA=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.200909724_200909726dup, NC_000002.11:g.201774447_201774449dup, XM_006712555.5:c.*1575_*1577dup, XM_006712555.3:c.*1575_*1577dup, NM_006190.5:c.*1575_*1577dup, XM_011511252.4:c.*1575_*1577dup, XM_011511252.2:c.*1575_*1577dup, XM_011511253.4:c.*1575_*1577dup, NR_033915.2:n.4056_4058dup, XM_047444569.1:c.*1575_*1577dup, XM_047444568.1:c.*1575_*1577dup

Select item 14915585192.

rs1491558519 has merged into rs200903207 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 2:200953431 (GRCh38)
2:201818154 (GRCh37)
Canonical SPDI:: NC_000002.12:200953426:AAAAAA:AAAA,NC_000002.12:200953426:AAAAAA:AAAAA,NC_000002.12:200953426:AAAAAA:AAAAAAA
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.00011/3 (TOMMO)
-=0.01014/6 (NorthernSweden)
-=0.05/2 (GENOME_DK)
-=0.08986/450 (1000Genomes)
HGVS:: NC_000002.12:g.200953431_200953432del, NC_000002.12:g.200953432del, NC_000002.12:g.200953432dup, NC_000002.11:g.201818154_201818155del, NC_000002.11:g.201818155del, NC_000002.11:g.201818155dup

Select item 14915419003.

rs1491541900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:200953790 (GRCh38)
2:201818514 (GRCh37)
Canonical SPDI:: NC_000002.12:200953790:C:CC
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.200953791dup, NC_000002.11:g.201818514dup

Select item 14914784864.

rs1491478486 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:200964257 (GRCh38)
2:201828980 (GRCh37)
Canonical SPDI:: NC_000002.12:200964256:CA:
Gene:: ORC2 (Varview), LOC105373835 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.200964257_200964258del, NC_000002.11:g.201828980_201828981del

Select item 14911779225.

rs1491177922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:200953792 (GRCh38)
2:201818515 (GRCh37)
Canonical SPDI:: NC_000002.12:200953789:ACAC:AC
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200953790AC[1], NC_000002.11:g.201818513AC[1]

Select item 14910898646.

rs1491089864 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:200909723 (GRCh38)
2:201774446 (GRCh37)
Canonical SPDI:: NC_000002.12:200909722:CT:
Gene:: ORC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00112/5 (ALFA)
-=0.00035/6 (TOMMO)
-=0.00112/5 (Estonian)
HGVS:: NC_000002.12:g.200909723_200909724del, NC_000002.11:g.201774446_201774447del, XM_006712555.5:c.*1577_*1578del, XM_006712555.3:c.*1577_*1578del, NM_006190.5:c.*1577_*1578del, XM_011511252.4:c.*1577_*1578del, XM_011511252.2:c.*1577_*1578del, XM_011511253.4:c.*1577_*1578del, NR_033915.2:n.4058_4059del, XM_047444569.1:c.*1577_*1578del, XM_047444568.1:c.*1577_*1578del

Select item 14909999177.

rs1490999917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:200910626 (GRCh38)
2:201775349 (GRCh37)
Canonical SPDI:: NC_000002.12:200910625:T:C
Gene:: ORC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.200910626T>C, NC_000002.11:g.201775349T>C, XM_006712555.5:c.*675A>G, XM_006712555.4:c.*675A>G, XM_006712555.3:c.*675A>G, XM_006712555.2:c.*675A>G, XM_006712555.1:c.*675A>G, NM_006190.5:c.*675A>G, NM_006190.4:c.*675A>G, XM_011511252.4:c.*675A>G, XM_011511252.3:c.*675A>G, XM_011511252.2:c.*675A>G, XM_011511252.1:c.*675A>G, XM_011511253.4:c.*675A>G, XM_011511253.3:c.*675A>G, XM_011511253.2:c.*675A>G, XM_011511253.1:c.*675A>G, NR_033915.2:n.3156A>G, NR_033915.1:n.3197A>G, XM_047444569.1:c.*675A>G, XM_047444568.1:c.*675A>G

Select item 14909552498.

rs1490955249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200952948 (GRCh38)
2:201817671 (GRCh37)
Canonical SPDI:: NC_000002.12:200952947:C:T
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000002.12:g.200952948C>T, NC_000002.11:g.201817671C>T

Select item 14908362519.

rs1490836251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200961349 (GRCh38)
2:201826072 (GRCh37)
Canonical SPDI:: NC_000002.12:200961348:C:T
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.200961349C>T, NC_000002.11:g.201826072C>T

Select item 149078820910.

rs1490788209 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGTAT>- [Show Flanks]
Chromosome:: 2:200945653 (GRCh38)
2:201810376 (GRCh37)
Canonical SPDI:: NC_000002.12:200945650:ATCTGTAT:AT
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200945653_200945658del, NC_000002.11:g.201810376_201810381del

Select item 149072944611.

rs1490729446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:200945766 (GRCh38)
2:201810490 (GRCh37)
Canonical SPDI:: NC_000002.12:200945766:TTTT:TTTTT
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200945770dup, NC_000002.11:g.201810493dup

Select item 149044777312.

rs1490447773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:200949237 (GRCh38)
2:201813960 (GRCh37)
Canonical SPDI:: NC_000002.12:200949236:C:A,NC_000002.12:200949236:C:G,NC_000002.12:200949236:C:T
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.200949237C>A, NC_000002.12:g.200949237C>G, NC_000002.12:g.200949237C>T, NC_000002.11:g.201813960C>A, NC_000002.11:g.201813960C>G, NC_000002.11:g.201813960C>T

Select item 149039621613.

rs1490396216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:200918681 (GRCh38)
2:201783404 (GRCh37)
Canonical SPDI:: NC_000002.12:200918680:G:C
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.200918681G>C, NC_000002.11:g.201783404G>C

Select item 149027942314.

rs1490279423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:200920276 (GRCh38)
2:201784999 (GRCh37)
Canonical SPDI:: NC_000002.12:200920275:G:T
Gene:: ORC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200920276G>T, NC_000002.11:g.201784999G>T, XM_006712555.5:c.1412C>A, XM_006712555.4:c.1412C>A, XM_006712555.3:c.1412C>A, XM_006712555.2:c.1412C>A, XM_006712555.1:c.1412C>A, NM_006190.5:c.1412C>A, NM_006190.4:c.1412C>A, XM_011511252.4:c.1472C>A, XM_011511252.3:c.1472C>A, XM_011511252.2:c.1472C>A, XM_011511252.1:c.1472C>A, XM_011511253.4:c.1472C>A, XM_011511253.3:c.1472C>A, XM_011511253.2:c.1472C>A, XM_011511253.1:c.1472C>A, NR_033915.2:n.1642C>A, NR_033915.1:n.1683C>A, XR_002959301.2:n.1642C>A, XR_002959301.1:n.1683C>A, XM_047444569.1:c.1412C>A, XM_047444568.1:c.1472C>A, XP_006712618.1:p.Ser471Tyr, NP_006181.1:p.Ser471Tyr, XP_011509554.1:p.Ser491Tyr, XP_011509555.1:p.Ser491Tyr, XP_047300525.1:p.Ser471Tyr, XP_047300524.1:p.Ser491Tyr

Select item 149017629015.

rs1490176290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:200914538 (GRCh38)
2:201779261 (GRCh37)
Canonical SPDI:: NC_000002.12:200914537:G:A,NC_000002.12:200914537:G:C
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.200914538G>A, NC_000002.12:g.200914538G>C, NC_000002.11:g.201779261G>A, NC_000002.11:g.201779261G>C

Select item 149014321816.

rs1490143218 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149003690117.

rs1490036901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:200953347 (GRCh38)
2:201818070 (GRCh37)
Canonical SPDI:: NC_000002.12:200953346:T:C
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200953347T>C, NC_000002.11:g.201818070T>C

Select item 148999006518.

rs1489990065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:200926142 (GRCh38)
2:201790865 (GRCh37)
Canonical SPDI:: NC_000002.12:200926141:G:C
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200926142G>C, NC_000002.11:g.201790865G>C

Select item 148997200919.

rs1489972009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:200908707 (GRCh38)
2:201773430 (GRCh37)
Canonical SPDI:: NC_000002.12:200908706:C:G,NC_000002.12:200908706:C:T
Gene:: ORC2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00025/4 (TOMMO)
T=0.01129/33 (KOREAN)
HGVS:: NC_000002.12:g.200908707C>G, NC_000002.12:g.200908707C>T, NC_000002.11:g.201773430C>G, NC_000002.11:g.201773430C>T

Select item 148989882620.

rs1489898826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:200951920 (GRCh38)
2:201816643 (GRCh37)
Canonical SPDI:: NC_000002.12:200951919:G:C
Gene:: ORC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.200951920G>C, NC_000002.11:g.201816643G>C

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