SNP Links for Gene (Select 2302) - SNP

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Items: 1 to 20 of 2006

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Select item 14906069281.

rs1490606928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:76140385 (GRCh38)
17:74136466 (GRCh37)
Canonical SPDI:: NC_000017.11:76140384:C:G
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.76140385C>G, NC_000017.10:g.74136466C>G, NG_013345.1:g.5915G>C, NM_001454.4:c.11G>C, NM_001454.3:c.11G>C, XM_047435666.1:c.11G>C, NP_001445.2:p.Ser4Thr, XP_047291622.1:p.Ser4Thr

Select item 14904357472.

rs1490435747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:76140810 (GRCh38)
17:74136891 (GRCh37)
Canonical SPDI:: NC_000017.11:76140809:A:C
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76140810A>C, NC_000017.10:g.74136891A>C, NG_013345.1:g.5490T>G, XM_047435666.1:c.-415T>G

Select item 14901303163.

rs1490130316 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAG>- [Show Flanks]
Chromosome:: 17:76142427 (GRCh38)
17:74138508 (GRCh37)
Canonical SPDI:: NC_000017.11:76142424:AGTCAG:AG
Gene:: FOXJ1 (Varview), RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76142427_76142430del, NC_000017.10:g.74138508_74138511del, NG_013345.1:g.3872_3875del

Select item 14891172894.

rs1489117289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76139762 (GRCh38)
17:74135843 (GRCh37)
Canonical SPDI:: NC_000017.11:76139761:T:C
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.76139762T>C, NC_000017.10:g.74135843T>C, NG_013345.1:g.6538A>G

Select item 14887550495.

rs1488755049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76142568 (GRCh38)
17:74138649 (GRCh37)
Canonical SPDI:: NC_000017.11:76142567:G:A
Gene:: FOXJ1 (Varview), RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76142568G>A, NC_000017.10:g.74138649G>A, NG_013345.1:g.3732C>T, NM_052916.3:c.*2667C>T, NM_052916.2:c.*2667C>T, XM_017024120.3:c.*2667C>T, NM_001330501.2:c.*2667C>T, NM_001330501.1:c.*2667C>T, XM_047435286.1:c.*2667C>T, XM_047435287.1:c.*2667C>T, XM_047435288.1:c.*2667C>T

Select item 14887020116.

rs1488702011 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:76141570 (GRCh38)
17:74137651 (GRCh37)
Canonical SPDI:: NC_000017.11:76141569:AA:A
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76141571del, NC_000017.10:g.74137652del, NG_013345.1:g.4730del

Select item 14882861617.

rs1488286161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76139514 (GRCh38)
17:74135595 (GRCh37)
Canonical SPDI:: NC_000017.11:76139513:C:T
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.76139514C>T, NC_000017.10:g.74135595C>T, NG_013345.1:g.6786G>A

Select item 14881731898.

rs1488173189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:76140275 (GRCh38)
17:74136356 (GRCh37)
Canonical SPDI:: NC_000017.11:76140274:C:A
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: stop_gained,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.76140275C>A, NC_000017.10:g.74136356C>A, NG_013345.1:g.6025G>T, NM_001454.4:c.121G>T, NM_001454.3:c.121G>T, XM_047435666.1:c.121G>T, NP_001445.2:p.Glu41Ter, XP_047291622.1:p.Glu41Ter

Select item 14878443589.

rs1487844358 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCTGTCCACGCAGA>- [Show Flanks]
Chromosome:: 17:76139581 (GRCh38)
17:74135662 (GRCh37)
Canonical SPDI:: NC_000017.11:76139577:AGATTCTGTCCACGCAGA:AGA
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76139581_76139595del, NC_000017.10:g.74135662_74135676del, NG_013345.1:g.6708_6722del

Select item 148748112110.

rs1487481121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76140300 (GRCh38)
17:74136381 (GRCh37)
Canonical SPDI:: NC_000017.11:76140299:G:A
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76140300G>A, NC_000017.10:g.74136381G>A, NG_013345.1:g.6000C>T, NM_001454.4:c.96C>T, NM_001454.3:c.96C>T, XM_047435666.1:c.96C>T

Select item 148741549011.

rs1487415490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76140021 (GRCh38)
17:74136102 (GRCh37)
Canonical SPDI:: NC_000017.11:76140020:C:T
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76140021C>T, NC_000017.10:g.74136102C>T, NG_013345.1:g.6279G>A, NM_001454.4:c.375G>A, NM_001454.3:c.375G>A, XM_047435666.1:c.375G>A

Select item 148737658112.

rs1487376581 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGGTAG>- [Show Flanks]
Chromosome:: 17:76139198 (GRCh38)
17:74135279 (GRCh37)
Canonical SPDI:: NC_000017.11:76139195:AGTGTGGTAG:AG
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.76139198_76139205del, NC_000017.10:g.74135279_74135286del, NG_013345.1:g.7097_7104del

Select item 148674451613.

rs1486744516 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:76140878 (GRCh38)
17:74136960 (GRCh37)
Canonical SPDI:: NC_000017.11:76140878:GG:GGG
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.76140880dup, NC_000017.10:g.74136961dup, NG_013345.1:g.5421dup, XM_047435666.1:c.-484dup

Select item 148668900614.

rs1486689006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:76141284 (GRCh38)
17:74137365 (GRCh37)
Canonical SPDI:: NC_000017.11:76141283:T:G
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76141284T>G, NC_000017.10:g.74137365T>G, NG_013345.1:g.5016A>C, NM_001454.3:c.-340A>C

Select item 148541357115.

rs1485413571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76141092 (GRCh38)
17:74137173 (GRCh37)
Canonical SPDI:: NC_000017.11:76141091:T:C
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.76141092T>C, NC_000017.10:g.74137173T>C, NG_013345.1:g.5208A>G, XM_047435666.1:c.-697A>G

Select item 148524989916.

rs1485249899 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:76137057 (GRCh38)
17:74133138 (GRCh37)
Canonical SPDI:: NC_000017.11:76137055:GTG:G
Gene:: FOXJ1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.76137057_76137058del, NC_000017.10:g.74133138_74133139del, NG_013345.1:g.9243_9244del, NM_001454.4:c.*296_*297del, NM_001454.3:c.*296_*297del, XM_047435666.1:c.*296_*297del

Select item 148516086117.

rs1485160861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:76137528 (GRCh38)
17:74133609 (GRCh37)
Canonical SPDI:: NC_000017.11:76137527:T:A
Gene:: FOXJ1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76137528T>A, NC_000017.10:g.74133609T>A, NG_013345.1:g.8772A>T, NM_001454.4:c.1091A>T, NM_001454.3:c.1091A>T, XM_047435666.1:c.1091A>T, NP_001445.2:p.Glu364Val, XP_047291622.1:p.Glu364Val

Select item 148407461618.

rs1484074616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:76136931 (GRCh38)
17:74133012 (GRCh37)
Canonical SPDI:: NC_000017.11:76136930:T:C,NC_000017.11:76136930:T:G
Gene:: FOXJ1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.76136931T>C, NC_000017.11:g.76136931T>G, NC_000017.10:g.74133012T>C, NC_000017.10:g.74133012T>G, NG_013345.1:g.9369A>G, NG_013345.1:g.9369A>C, NM_001454.4:c.*422A>G, NM_001454.4:c.*422A>C, NM_001454.3:c.*422A>G, NM_001454.3:c.*422A>C, XM_047435666.1:c.*422A>G, XM_047435666.1:c.*422A>C

Select item 148363170819.

rs1483631708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76137274 (GRCh38)
17:74133355 (GRCh37)
Canonical SPDI:: NC_000017.11:76137273:G:A
Gene:: FOXJ1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.76137274G>A, NC_000017.10:g.74133355G>A, NG_013345.1:g.9026C>T, NM_001454.4:c.*79C>T, NM_001454.3:c.*79C>T, XM_047435666.1:c.*79C>T

Select item 148302935320.

rs1483029353 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:76138234 (GRCh38)
17:74134316 (GRCh37)
Canonical SPDI:: NC_000017.11:76138234:GG:GGG
Gene:: FOXJ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000024/3 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.76138236dup, NC_000017.10:g.74134317dup, NG_013345.1:g.8065dup

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