SNP Links for Gene (Select 24147) - SNP

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Items: 1 to 20 of 1390

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Select item 14906988091.

rs1490698809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:35620008 (GRCh38)
11:35641556 (GRCh37)
Canonical SPDI:: NC_000011.10:35620007:G:A
Gene:: FJX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.35620008G>A, NC_000011.9:g.35641556G>A, NM_014344.4:c.*58G>A, NM_014344.3:c.*58G>A

Select item 14906479822.

rs1490647982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:35618188 (GRCh38)
11:35639736 (GRCh37)
Canonical SPDI:: NC_000011.10:35618187:A:C
Gene:: FJX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.35618188A>C, NC_000011.9:g.35639736A>C, NM_014344.3:c.-449A>C

Select item 14905796363.

rs1490579636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:35620053 (GRCh38)
11:35641601 (GRCh37)
Canonical SPDI:: NC_000011.10:35620052:C:G
Gene:: FJX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.35620053C>G, NC_000011.9:g.35641601C>G, NM_014344.4:c.*103C>G, NM_014344.3:c.*103C>G

Select item 14903281744.

rs1490328174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:35619218 (GRCh38)
11:35640766 (GRCh37)
Canonical SPDI:: NC_000011.10:35619217:T:C,NC_000011.10:35619217:T:G
Gene:: FJX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35619218T>C, NC_000011.10:g.35619218T>G, NC_000011.9:g.35640766T>C, NC_000011.9:g.35640766T>G, NM_014344.4:c.582T>C, NM_014344.4:c.582T>G, NM_014344.3:c.582T>C, NM_014344.3:c.582T>G

Select item 14898881545.

rs1489888154 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 11:35621289 (GRCh38)
11:35642837 (GRCh37)
Canonical SPDI:: NC_000011.10:35621283:ATTATTAT:ATTAT
Gene:: FJX1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTAT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.35621286TAT[1], NC_000011.9:g.35642834TAT[1]

Select item 14898361636.

rs1489836163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:35618903 (GRCh38)
11:35640451 (GRCh37)
Canonical SPDI:: NC_000011.10:35618902:C:G,NC_000011.10:35618902:C:T
Gene:: FJX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
G=0.000024/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35618903C>G, NC_000011.10:g.35618903C>T, NC_000011.9:g.35640451C>G, NC_000011.9:g.35640451C>T, NM_014344.4:c.267C>G, NM_014344.4:c.267C>T, NM_014344.3:c.267C>G, NM_014344.3:c.267C>T

Select item 14892492807.

rs1489249280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:35619641 (GRCh38)
11:35641189 (GRCh37)
Canonical SPDI:: NC_000011.10:35619640:C:G
Gene:: FJX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.35619641C>G, NC_000011.9:g.35641189C>G, NM_014344.4:c.1005C>G, NM_014344.3:c.1005C>G

Select item 14883693718.

rs1488369371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35617914 (GRCh38)
11:35639462 (GRCh37)
Canonical SPDI:: NC_000011.10:35617913:C:T
Gene:: FJX1 (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_000011.10:g.35617914C>T, NC_000011.9:g.35639462C>T

Select item 14883447379.

rs1488344737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:35618321 (GRCh38)
11:35639869 (GRCh37)
Canonical SPDI:: NC_000011.10:35618320:A:G
Gene:: FJX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00067/8 (ALFA)
G=0.04088/113 (KOREAN)
HGVS:: NC_000011.10:g.35618321A>G, NC_000011.9:g.35639869A>G, NM_014344.3:c.-316A>G

Select item 148790600610.

rs1487906006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:35617227 (GRCh38)
11:35638775 (GRCh37)
Canonical SPDI:: NC_000011.10:35617226:A:C
Gene:: FJX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00177/21 (ALFA)
HGVS:: NC_000011.10:g.35617227A>C, NC_000011.9:g.35638775A>C

Select item 148790353811.

rs1487903538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:35617844 (GRCh38)
11:35639392 (GRCh37)
Canonical SPDI:: NC_000011.10:35617843:T:C
Gene:: FJX1 (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_000011.10:g.35617844T>C, NC_000011.9:g.35639392T>C

Select item 148759396012.

rs1487593960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35618256 (GRCh38)
11:35639804 (GRCh37)
Canonical SPDI:: NC_000011.10:35618255:C:T
Gene:: FJX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.35618256C>T, NC_000011.9:g.35639804C>T, NM_014344.3:c.-381C>T

Select item 148702393013.

rs1487023930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35618237 (GRCh38)
11:35639785 (GRCh37)
Canonical SPDI:: NC_000011.10:35618236:C:T
Gene:: FJX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.35618237C>T, NC_000011.9:g.35639785C>T, NM_014344.3:c.-400C>T

Select item 148689825414.

rs1486898254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35618768 (GRCh38)
11:35640316 (GRCh37)
Canonical SPDI:: NC_000011.10:35618767:C:T
Gene:: FJX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.35618768C>T, NC_000011.9:g.35640316C>T, NM_014344.4:c.132C>T, NM_014344.3:c.132C>T

Select item 148627871715.

rs1486278717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:35616369 (GRCh38)
11:35637917 (GRCh37)
Canonical SPDI:: NC_000011.10:35616368:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.35616369G>A, NC_000011.9:g.35637917G>A

Select item 148550298816.

rs1485502988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:35618986 (GRCh38)
11:35640534 (GRCh37)
Canonical SPDI:: NC_000011.10:35618985:C:G,NC_000011.10:35618985:C:T
Gene:: FJX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.35618986C>G, NC_000011.10:g.35618986C>T, NC_000011.9:g.35640534C>G, NC_000011.9:g.35640534C>T, NM_014344.4:c.350C>G, NM_014344.4:c.350C>T, NM_014344.3:c.350C>G, NM_014344.3:c.350C>T, NP_055159.2:p.Ala117Gly, NP_055159.2:p.Ala117Val

Select item 148506711917.

rs1485067119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35617231 (GRCh38)
11:35638779 (GRCh37)
Canonical SPDI:: NC_000011.10:35617230:C:T
Gene:: FJX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.35617231C>T, NC_000011.9:g.35638779C>T

Select item 148474776818.

rs1484747768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:35617960 (GRCh38)
11:35639508 (GRCh37)
Canonical SPDI:: NC_000011.10:35617959:G:T
Gene:: FJX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.35617960G>T, NC_000011.9:g.35639508G>T

Select item 148467967719.

rs1484679677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35620400 (GRCh38)
11:35641948 (GRCh37)
Canonical SPDI:: NC_000011.10:35620399:C:T
Gene:: FJX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.35620400C>T, NC_000011.9:g.35641948C>T, NM_014344.4:c.*450C>T, NM_014344.3:c.*450C>T

Select item 148272115920.

rs1482721159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:35618330 (GRCh38)
11:35639878 (GRCh37)
Canonical SPDI:: NC_000011.10:35618329:C:G
Gene:: FJX1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00017/2 (ALFA)
G=0.00042/7 (TOMMO)
G=0.02699/74 (KOREAN)
HGVS:: NC_000011.10:g.35618330C>G, NC_000011.9:g.35639878C>G, NM_014344.3:c.-307C>G

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