SNP Links for Gene (Select 101927828) - SNP

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Select item 14908709391.

rs1490870939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65792861 (GRCh38)
11:65560332 (GRCh37)
Canonical SPDI:: NC_000011.10:65792860:G:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.65792861G>A, NC_000011.9:g.65560332G>A

Select item 14879476122.

rs1487947612 [Homo sapiens]

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

Select item 14876958263.

rs1487695826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65792376 (GRCh38)
11:65559847 (GRCh37)
Canonical SPDI:: NC_000011.10:65792375:G:C
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,3_prime_UTR_variant,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_000011.10:g.65792376G>C, NC_000011.9:g.65559847G>C, XM_047427980.1:c.*1173C>G

Select item 14867347984.

rs1486734798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65789915 (GRCh38)
11:65557386 (GRCh37)
Canonical SPDI:: NC_000011.10:65789914:G:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65789915G>A, NC_000011.9:g.65557386G>A

Select item 14863738785.

rs1486373878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65790473 (GRCh38)
11:65557944 (GRCh37)
Canonical SPDI:: NC_000011.10:65790472:C:G
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.65790473C>G, NC_000011.9:g.65557944C>G

Select item 14863398296.

rs1486339829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65789428 (GRCh38)
11:65556899 (GRCh37)
Canonical SPDI:: NC_000011.10:65789427:G:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65789428G>A, NC_000011.9:g.65556899G>A, XM_047427980.1:c.*1593C>T, NR_108085.1:n.117C>T

Select item 14853707557.

rs1485370755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65789926 (GRCh38)
11:65557397 (GRCh37)
Canonical SPDI:: NC_000011.10:65789925:G:T
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000011.10:g.65789926G>T, NC_000011.9:g.65557397G>T

Select item 14852491638.

rs1485249163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65791340 (GRCh38)
11:65558811 (GRCh37)
Canonical SPDI:: NC_000011.10:65791339:G:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65791340G>A, NC_000011.9:g.65558811G>A

Select item 14844183489.

rs1484418348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65791414 (GRCh38)
11:65558885 (GRCh37)
Canonical SPDI:: NC_000011.10:65791413:C:T
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,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_000011.10:g.65791414C>T, NC_000011.9:g.65558885C>T

Select item 148226031710.

rs1482260317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65790680 (GRCh38)
11:65558151 (GRCh37)
Canonical SPDI:: NC_000011.10:65790679:G:A,NC_000011.10:65790679:G:T
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65790680G>A, NC_000011.10:g.65790680G>T, NC_000011.9:g.65558151G>A, NC_000011.9:g.65558151G>T

Select item 148208660311.

rs1482086603 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCGCTCC [Show Flanks]
Chromosome:: 11:65788956 (GRCh38)
11:65556428 (GRCh37)
Canonical SPDI:: NC_000011.10:65788956:CTCCCCGCTCC:CTCCCCGCTCCCCGCTCC
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CTCCCCGCTCCCCGCTCC=0./0 (ALFA)
CTCCCCG=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65788961_65788967dup, NC_000011.9:g.65556432_65556438dup

Select item 148197624512.

rs1481976245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65790348 (GRCh38)
11:65557819 (GRCh37)
Canonical SPDI:: NC_000011.10:65790347:C:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000011.10:g.65790348C>A, NC_000011.9:g.65557819C>A

Select item 148156632613.

rs1481566326 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:65790443 (GRCh38)
11:65557914 (GRCh37)
Canonical SPDI:: NC_000011.10:65790442:TG:
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.65790443_65790444del, NC_000011.9:g.65557914_65557915del

Select item 147662597514.

rs1476625975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65789756 (GRCh38)
11:65557227 (GRCh37)
Canonical SPDI:: NC_000011.10:65789755:G:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65789756G>A, NC_000011.9:g.65557227G>A

Select item 147635705715.

rs1476357057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65789510 (GRCh38)
11:65556981 (GRCh37)
Canonical SPDI:: NC_000011.10:65789509:G:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65789510G>A, NC_000011.9:g.65556981G>A

Select item 147589629216.

rs1475896292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65790899 (GRCh38)
11:65558370 (GRCh37)
Canonical SPDI:: NC_000011.10:65790898:G:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65790899G>A, NC_000011.9:g.65558370G>A, XM_047427980.1:c.*1446C>T

Select item 147526930417.

rs1475269304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65790440 (GRCh38)
11:65557911 (GRCh37)
Canonical SPDI:: NC_000011.10:65790439:C:T
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000011.10:g.65790440C>T, NC_000011.9:g.65557911C>T

Select item 147503991218.

rs1475039912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:65790006 (GRCh38)
11:65557477 (GRCh37)
Canonical SPDI:: NC_000011.10:65790005:T:A
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.65790006T>A, NC_000011.9:g.65557477T>A

Select item 147410720319.

rs1474107203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65792843 (GRCh38)
11:65560314 (GRCh37)
Canonical SPDI:: NC_000011.10:65792842:C:T
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_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_000011.10:g.65792843C>T, NC_000011.9:g.65560314C>T

Select item 147392249620.

rs1473922496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65791502 (GRCh38)
11:65558973 (GRCh37)
Canonical SPDI:: NC_000011.10:65791501:C:G
Gene:: OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_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_000011.10:g.65791502C>G, NC_000011.9:g.65558973C>G

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