SNP Links for Gene (Select 100288524) - SNP

Links from Gene

Items: 1 to 20 of 2019

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Select item 14901135181.

rs1490113518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:291267 (GRCh38)
7:331233 (GRCh37)
Canonical SPDI:: NC_000007.14:291266:G:A
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.291267G>A, NC_000007.13:g.331233G>A, NM_001374838.1:c.481G>A, NM_001195127.1:c.481G>A, NR_164665.1:n.39G>A, NP_001361767.1:p.Gly161Arg

Select item 14897121902.

rs1489712190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:293775 (GRCh38)
7:333741 (GRCh37)
Canonical SPDI:: NC_000007.14:293774:G:C
Gene:: FOXL3-OT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.293775G>C, NC_000007.13:g.333741G>C

Select item 14888993313.

rs1488899331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:292709 (GRCh38)
7:332675 (GRCh37)
Canonical SPDI:: NC_000007.14:292708:T:C
Gene:: FOXL3-OT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.292709T>C, NC_000007.13:g.332675T>C

Select item 14888685114.

rs1488868511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:293537 (GRCh38)
7:333503 (GRCh37)
Canonical SPDI:: NC_000007.14:293536:G:A
Gene:: FOXL3-OT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.293537G>A, NC_000007.13:g.333503G>A

Select item 14883689685.

rs1488368968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:291908 (GRCh38)
7:331874 (GRCh37)
Canonical SPDI:: NC_000007.14:291907:T:A,NC_000007.14:291907:T:G
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.291908T>A, NC_000007.14:g.291908T>G, NC_000007.13:g.331874T>A, NC_000007.13:g.331874T>G

Select item 14878889566.

rs1487888956 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:292848 (GRCh38)
7:332814 (GRCh37)
Canonical SPDI:: NC_000007.14:292847:CCC:CC
Gene:: FOXL3-OT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.292850del, NC_000007.13:g.332816del

Select item 14874083477.

rs1487408347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:289669 (GRCh38)
7:329635 (GRCh37)
Canonical SPDI:: NC_000007.14:289668:C:T
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.289669C>T, NC_000007.13:g.329635C>T

Select item 14873223128.

rs1487322312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:291176 (GRCh38)
7:331142 (GRCh37)
Canonical SPDI:: NC_000007.14:291175:G:C
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_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_000007.14:g.291176G>C, NC_000007.13:g.331142G>C, NM_001374838.1:c.390G>C, NM_001195127.1:c.390G>C

Select item 14872372979.

rs1487237297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:290155 (GRCh38)
7:330121 (GRCh37)
Canonical SPDI:: NC_000007.14:290154:G:A,NC_000007.14:290154:G:C,NC_000007.14:290154:G:T
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.290155G>A, NC_000007.14:g.290155G>C, NC_000007.14:g.290155G>T, NC_000007.13:g.330121G>A, NC_000007.13:g.330121G>C, NC_000007.13:g.330121G>T

Select item 148720356310.

rs1487203563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:290694 (GRCh38)
7:330660 (GRCh37)
Canonical SPDI:: NC_000007.14:290693:C:G,NC_000007.14:290693:C:T
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00003/2 (GnomAD_exomes)
G=0.00016/1 (1000Genomes)
G=0.00329/55 (TOMMO)
HGVS:: NC_000007.14:g.290694C>G, NC_000007.14:g.290694C>T, NC_000007.13:g.330660C>G, NC_000007.13:g.330660C>T, NM_001374838.1:c.149C>G, NM_001374838.1:c.149C>T, NM_001195127.1:c.149C>G, NM_001195127.1:c.149C>T, NP_001361767.1:p.Ala50Gly, NP_001361767.1:p.Ala50Val

Select item 148716613911.

rs1487166139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:291132 (GRCh38)
7:331098 (GRCh37)
Canonical SPDI:: NC_000007.14:291131:C:A,NC_000007.14:291131:C:T
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.291132C>A, NC_000007.14:g.291132C>T, NC_000007.13:g.331098C>A, NC_000007.13:g.331098C>T, NM_001374838.1:c.346C>A, NM_001374838.1:c.346C>T, NM_001195127.1:c.346C>A, NM_001195127.1:c.346C>T, NP_001361767.1:p.Leu116Met

Select item 148705880512.

rs1487058805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:289507 (GRCh38)
7:329473 (GRCh37)
Canonical SPDI:: NC_000007.14:289506:C:T
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000107/15 (GnomAD)
T=0.000125/33 (TOPMED)
HGVS:: NC_000007.14:g.289507C>T, NC_000007.13:g.329473C>T

Select item 148696465413.

rs1486964654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:290752 (GRCh38)
7:330718 (GRCh37)
Canonical SPDI:: NC_000007.14:290751:C:A
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.290752C>A, NC_000007.13:g.330718C>A, NM_001374838.1:c.207C>A, NM_001195127.1:c.207C>A, NP_001361767.1:p.Tyr69Ter

Select item 148681267314.

rs1486812673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:289286 (GRCh38)
7:329252 (GRCh37)
Canonical SPDI:: NC_000007.14:289285:C:T
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.289286C>T, NC_000007.13:g.329252C>T

Select item 148646954815.

rs1486469548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:288735 (GRCh38)
7:328701 (GRCh37)
Canonical SPDI:: NC_000007.14:288734:G:A
Gene:: FOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000007.14:g.288735G>A, NC_000007.13:g.328701G>A

Select item 148644621916.

rs1486446219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:292175 (GRCh38)
7:332141 (GRCh37)
Canonical SPDI:: NC_000007.14:292174:A:G
Gene:: FOXL3-OT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.292175A>G, NC_000007.13:g.332141A>G

Select item 148581846817.

rs1485818468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:291446 (GRCh38)
7:331412 (GRCh37)
Canonical SPDI:: NC_000007.14:291445:C:T
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.291446C>T, NC_000007.13:g.331412C>T, NM_001374838.1:c.660C>T, NM_001195127.1:c.660C>T, NR_164665.1:n.218C>T

Select item 148577824018.

rs1485778240 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAGCTCCG>- [Show Flanks]
Chromosome:: 7:290234 (GRCh38)
7:330200 (GRCh37)
Canonical SPDI:: NC_000007.14:290230:CCGGCAGCTCCG:CCG
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: inframe_deletion,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.290234_290242del, NC_000007.13:g.330200_330208del, NM_001374838.1:c.65_73del, NM_001195127.1:c.65_73del, NP_001361767.1:p.Gly22_Ser24del

Select item 148557384119.

rs1485573841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:294714 (GRCh38)
7:334680 (GRCh37)
Canonical SPDI:: NC_000007.14:294713:G:A
Gene:: FOXL3-OT1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.294714G>A, NC_000007.13:g.334680G>A

Select item 148537707920.

rs1485377079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:289838 (GRCh38)
7:329804 (GRCh37)
Canonical SPDI:: NC_000007.14:289837:G:A
Gene:: FOXL3-OT1 (Varview), FOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.289838G>A, NC_000007.13:g.329804G>A

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