SNP Links for Gene (Select 442425) - SNP

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Select item 14906518431.

rs1490651843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:77019754 (GRCh38)
9:79634670 (GRCh37)
Canonical SPDI:: NC_000009.12:77019753:C:G,NC_000009.12:77019753:C:T
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77019754C>G, NC_000009.12:g.77019754C>T, NC_000009.11:g.79634670C>G, NC_000009.11:g.79634670C>T, NM_001013735.1:c.100C>G, NM_001013735.1:c.100C>T, NP_001013757.1:p.Leu34Val

Select item 14899133422.

rs1489913342 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGCCGCCGCAGCCGCAGCCG>- [Show Flanks]
Chromosome:: 9:77020634 (GRCh38)
9:79635550 (GRCh37)
Canonical SPDI:: NC_000009.12:77020629:GCCGCGGCCGCCGCAGCCGCAGCCG:GCCG
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GCCG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.77020634_77020654del, NC_000009.11:g.79635550_79635570del, NM_001013735.1:c.980_1000del, NP_001013757.1:p.Ala327_Ala333del

Select item 14883962303.

rs1488396230 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:77019817 (GRCh38)
9:79634733 (GRCh37)
Canonical SPDI:: NC_000009.12:77019810:CACACACA:CACACA
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.001997/25 (GoESP)
HGVS:: NC_000009.12:g.77019811CA[3], NC_000009.11:g.79634727CA[3], NM_001013735.1:c.163_164del, NP_001013757.1:p.Gln55fs

Select item 14880352164.

rs1488035216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:77018511 (GRCh38)
9:79633427 (GRCh37)
Canonical SPDI:: NC_000009.12:77018510:G:C
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.77018511G>C, NC_000009.11:g.79633427G>C

Select item 14878821125.

rs1487882112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:77020403 (GRCh38)
9:79635319 (GRCh37)
Canonical SPDI:: NC_000009.12:77020402:G:A,NC_000009.12:77020402:G:C
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000009.12:g.77020403G>A, NC_000009.12:g.77020403G>C, NC_000009.11:g.79635319G>A, NC_000009.11:g.79635319G>C, NM_001013735.1:c.749G>A, NM_001013735.1:c.749G>C, NP_001013757.1:p.Gly250Asp, NP_001013757.1:p.Gly250Ala

Select item 14870575776.

rs1487057577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:77019560 (GRCh38)
9:79634476 (GRCh37)
Canonical SPDI:: NC_000009.12:77019559:T:G
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000223/1 (Estonian)
G=0.001645/3 (Korea1K)
HGVS:: NC_000009.12:g.77019560T>G, NC_000009.11:g.79634476T>G

Select item 14857230167.

rs1485723016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77020806 (GRCh38)
9:79635722 (GRCh37)
Canonical SPDI:: NC_000009.12:77020805:C:T
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.77020806C>T, NC_000009.11:g.79635722C>T, NM_001013735.1:c.1152C>T

Select item 14850094138.

rs1485009413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:77020814 (GRCh38)
9:79635730 (GRCh37)
Canonical SPDI:: NC_000009.12:77020813:C:A
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77020814C>A, NC_000009.11:g.79635730C>A, NM_001013735.1:c.1160C>A, NP_001013757.1:p.Ala387Asp

Select item 14842476229.

rs1484247622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:77020317 (GRCh38)
9:79635233 (GRCh37)
Canonical SPDI:: NC_000009.12:77020316:G:T
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77020317G>T, NC_000009.11:g.79635233G>T, NM_001013735.1:c.663G>T

Select item 148373471310.

rs1483734713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77020877 (GRCh38)
9:79635793 (GRCh37)
Canonical SPDI:: NC_000009.12:77020876:C:T
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.77020877C>T, NC_000009.11:g.79635793C>T, NM_001013735.1:c.1223C>T, NP_001013757.1:p.Ser408Phe

Select item 148284371911.

rs1482843719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:77019058 (GRCh38)
9:79633974 (GRCh37)
Canonical SPDI:: NC_000009.12:77019057:T:G
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77019058T>G, NC_000009.11:g.79633974T>G

Select item 148208812312.

rs1482088123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:77020613 (GRCh38)
9:79635529 (GRCh37)
Canonical SPDI:: NC_000009.12:77020612:T:C
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77020613T>C, NC_000009.11:g.79635529T>C, NM_001013735.1:c.959T>C, NP_001013757.1:p.Met320Thr

Select item 148050549813.

rs1480505498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:77017935 (GRCh38)
9:79632851 (GRCh37)
Canonical SPDI:: NC_000009.12:77017934:G:A
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.77017935G>A, NC_000009.11:g.79632851G>A

Select item 148048055814.

rs1480480558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:77020272 (GRCh38)
9:79635188 (GRCh37)
Canonical SPDI:: NC_000009.12:77020271:G:T
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77020272G>T, NC_000009.11:g.79635188G>T, NM_001013735.1:c.618G>T

Select item 148038139315.

rs1480381393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:77020516 (GRCh38)
9:79635432 (GRCh37)
Canonical SPDI:: NC_000009.12:77020515:G:C
Gene:: FOXB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.77020516G>C, NC_000009.11:g.79635432G>C, NM_001013735.1:c.862G>C, NP_001013757.1:p.Gly288Arg

Select item 147905761116.

rs1479057611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77021423 (GRCh38)
9:79636339 (GRCh37)
Canonical SPDI:: NC_000009.12:77021422:C:T
Gene:: FOXB2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.77021423C>T, NC_000009.11:g.79636339C>T

Select item 147891486117.

rs1478914861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77019377 (GRCh38)
9:79634293 (GRCh37)
Canonical SPDI:: NC_000009.12:77019376:C:T
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.77019377C>T, NC_000009.11:g.79634293C>T

Select item 147829373818.

rs1478293738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:77018576 (GRCh38)
9:79633492 (GRCh37)
Canonical SPDI:: NC_000009.12:77018575:G:A,NC_000009.12:77018575:G:C
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.77018576G>A, NC_000009.12:g.77018576G>C, NC_000009.11:g.79633492G>A, NC_000009.11:g.79633492G>C

Select item 147822370019.

rs1478223700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:77018119 (GRCh38)
9:79633035 (GRCh37)
Canonical SPDI:: NC_000009.12:77018118:G:A
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.77018119G>A, NC_000009.11:g.79633035G>A

Select item 147805725620.

rs1478057256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:77019457 (GRCh38)
9:79634373 (GRCh37)
Canonical SPDI:: NC_000009.12:77019456:A:G
Gene:: FOXB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.77019457A>G, NC_000009.11:g.79634373A>G

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