SNP Links for Gene (Select 2296) - SNP

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Select item 14910930171.

rs1491093017 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:1611587 (GRCh38)
6:1611822 (GRCh37)
Canonical SPDI:: NC_000006.12:1611583:GCGCG:GCG
Gene:: FOXC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000006.12:g.1611585CG[1], NC_000006.11:g.1611820CG[1], NG_009368.1:g.6140CG[1], NM_001453.3:c.1142_1143del, NM_001453.2:c.1142_1143del, NP_001444.2:p.Ala381fs

Select item 14904359632.

rs1490435963 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:1609106 (GRCh38)
6:1609341 (GRCh37)
Canonical SPDI:: NC_000006.12:1609105:GGGGGG:GGGGG
Gene:: FOXC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.1609111del, NC_000006.11:g.1609346del, NG_009368.1:g.3666del

Select item 14899471193.

rs1489947119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:1609456 (GRCh38)
6:1609691 (GRCh37)
Canonical SPDI:: NC_000006.12:1609455:G:C
Gene:: FOXC1 (Varview)
Functional Consequence:: 2KB_upstream_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_000006.12:g.1609456G>C, NC_000006.11:g.1609691G>C, NG_009368.1:g.4011G>C

Select item 14899189594.

rs1489918959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGGA>- [Show Flanks]
Chromosome:: 6:1614115 (GRCh38)
6:1614350 (GRCh37)
Canonical SPDI:: NC_000006.12:1614109:GGGGAAGGGGA:GGGGA
Gene:: FOXC1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.00002/1 (GnomAD)
HGVS:: NC_000006.12:g.1614115_1614120del, NC_000006.11:g.1614350_1614355del, NG_009368.1:g.8670_8675del

Select item 14897717885.

rs1489771788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:1611073 (GRCh38)
6:1611308 (GRCh37)
Canonical SPDI:: NC_000006.12:1611072:G:A
Gene:: FOXC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.1611073G>A, NC_000006.11:g.1611308G>A, NG_009368.1:g.5628G>A, NM_001453.3:c.628G>A, NM_001453.2:c.628G>A, NP_001444.2:p.Asp210Asn

Select item 14897188666.

rs1489718866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:1611661 (GRCh38)
6:1611896 (GRCh37)
Canonical SPDI:: NC_000006.12:1611660:G:C,NC_000006.12:1611660:G:T
Gene:: FOXC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.1611661G>C, NC_000006.12:g.1611661G>T, NC_000006.11:g.1611896G>C, NC_000006.11:g.1611896G>T, NG_009368.1:g.6216G>C, NG_009368.1:g.6216G>T, NM_001453.3:c.1216G>C, NM_001453.3:c.1216G>T, NM_001453.2:c.1216G>C, NM_001453.2:c.1216G>T, NP_001444.2:p.Gly406Arg, NP_001444.2:p.Gly406Cys

Select item 14895895427.

rs1489589542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:1613598 (GRCh38)
6:1613833 (GRCh37)
Canonical SPDI:: NC_000006.12:1613597:A:G
Gene:: FOXC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.1613598A>G, NC_000006.11:g.1613833A>G, NG_009368.1:g.8153A>G, NM_001453.3:c.*1491A>G, NM_001453.2:c.*1491A>G

Select item 14895787718.

rs1489578771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:1612726 (GRCh38)
6:1612961 (GRCh37)
Canonical SPDI:: NC_000006.12:1612725:A:T
Gene:: FOXC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.1612726A>T, NC_000006.11:g.1612961A>T, NG_009368.1:g.7281A>T, NM_001453.3:c.*619A>T, NM_001453.2:c.*619A>T

Select item 14892109019.

rs1489210901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:1608788 (GRCh38)
6:1609023 (GRCh37)
Canonical SPDI:: NC_000006.12:1608787:C:A
Gene:: FOXC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.1608788C>A, NC_000006.11:g.1609023C>A, NG_009368.1:g.3343C>A

Select item 148846579310.

rs1488465793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:1614330 (GRCh38)
6:1614565 (GRCh37)
Canonical SPDI:: NC_000006.12:1614329:C:A,NC_000006.12:1614329:C:T
Gene:: FOXC1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.1614330C>A, NC_000006.12:g.1614330C>T, NC_000006.11:g.1614565C>A, NC_000006.11:g.1614565C>T, NG_009368.1:g.8885C>A, NG_009368.1:g.8885C>T

Select item 148814974811.

rs1488149748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:1612129 (GRCh38)
6:1612364 (GRCh37)
Canonical SPDI:: NC_000006.12:1612128:A:C
Gene:: FOXC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.1612129A>C, NC_000006.11:g.1612364A>C, NG_009368.1:g.6684A>C, NM_001453.3:c.*22A>C, NM_001453.2:c.*22A>C

Select item 148813342412.

rs1488133424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:1608791 (GRCh38)
6:1609026 (GRCh37)
Canonical SPDI:: NC_000006.12:1608790:G:T
Gene:: FOXC1 (Varview)
Functional Consequence:: 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_000006.12:g.1608791G>T, NC_000006.11:g.1609026G>T, NG_009368.1:g.3346G>T

Select item 148764989913.

rs1487649899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:1614058 (GRCh38)
6:1614293 (GRCh37)
Canonical SPDI:: NC_000006.12:1614057:T:A
Gene:: FOXC1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000006.12:g.1614058T>A, NC_000006.11:g.1614293T>A, NG_009368.1:g.8613T>A

Select item 148761979714.

rs1487619797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:1610380 (GRCh38)
6:1610615 (GRCh37)
Canonical SPDI:: NC_000006.12:1610379:G:A,NC_000006.12:1610379:G:C,NC_000006.12:1610379:G:T
Gene:: FOXC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.1610380G>A, NC_000006.12:g.1610380G>C, NC_000006.12:g.1610380G>T, NC_000006.11:g.1610615G>A, NC_000006.11:g.1610615G>C, NC_000006.11:g.1610615G>T, NG_009368.1:g.4935G>A, NG_009368.1:g.4935G>C, NG_009368.1:g.4935G>T, NM_001453.3:c.-66G>A, NM_001453.3:c.-66G>C, NM_001453.3:c.-66G>T

Select item 148748207815.

rs1487482078 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 6:1613335 (GRCh38)
6:1613570 (GRCh37)
Canonical SPDI:: NC_000006.12:1613334:CC:
Gene:: FOXC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000114/16 (GnomAD)
-=0.000136/36 (TOPMED)
HGVS:: NC_000006.12:g.1613335_1613336del, NC_000006.11:g.1613570_1613571del, NG_009368.1:g.7890_7891del, NM_001453.3:c.*1228_*1229del, NM_001453.2:c.*1228_*1229del

Select item 148743463216.

rs1487434632 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTT>-,GTTTGTTT [Show Flanks]
Chromosome:: 6:1612793 (GRCh38)
6:1613028 (GRCh37)
Canonical SPDI:: NC_000006.12:1612786:TTGTTTGTTT:TTGTTT,NC_000006.12:1612786:TTGTTTGTTT:TTGTTTGTTTGTTT
Gene:: FOXC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.1612789GTTT[1], NC_000006.12:g.1612789GTTT[3], NC_000006.11:g.1613024GTTT[1], NC_000006.11:g.1613024GTTT[3], NG_009368.1:g.7344GTTT[1], NG_009368.1:g.7344GTTT[3], NM_001453.3:c.*682GTTT[1], NM_001453.3:c.*682GTTT[3], NM_001453.2:c.*682GTTT[1], NM_001453.2:c.*682GTTT[3]

Select item 148721922217.

rs1487219222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:1611296 (GRCh38)
6:1611531 (GRCh37)
Canonical SPDI:: NC_000006.12:1611295:G:T
Gene:: FOXC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.1611296G>T, NC_000006.11:g.1611531G>T, NG_009368.1:g.5851G>T, NM_001453.3:c.851G>T, NM_001453.2:c.851G>T, NP_001444.2:p.Ser284Ile

Select item 148700258618.

rs1487002586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:1610018 (GRCh38)
6:1610253 (GRCh37)
Canonical SPDI:: NC_000006.12:1610017:C:A,NC_000006.12:1610017:C:T
Gene:: FOXC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
A=0.00007/1 (TOMMO)
HGVS:: NC_000006.12:g.1610018C>A, NC_000006.12:g.1610018C>T, NC_000006.11:g.1610253C>A, NC_000006.11:g.1610253C>T, NG_009368.1:g.4573C>A, NG_009368.1:g.4573C>T, NM_001453.3:c.-428C>A, NM_001453.3:c.-428C>T

Select item 148656988319.

rs1486569883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:1609926 (GRCh38)
6:1610161 (GRCh37)
Canonical SPDI:: NC_000006.12:1609925:C:T
Gene:: FOXC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000147/39 (TOPMED)
T=0.000172/24 (GnomAD)
T=0.000468/3 (1000Genomes)
HGVS:: NC_000006.12:g.1609926C>T, NC_000006.11:g.1610161C>T, NG_009368.1:g.4481C>T, NM_001453.3:c.-520C>T

Select item 148629937820.

rs1486299378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:1609555 (GRCh38)
6:1609790 (GRCh37)
Canonical SPDI:: NC_000006.12:1609554:T:G
Gene:: FOXC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.1609555T>G, NC_000006.11:g.1609790T>G, NG_009368.1:g.4110T>G

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