SNP Links for Gene (Select 170949) - SNP

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Items: 1 to 20 of 698

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Select item 14897890191.

rs1489789019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:6991374 (GRCh38)
8:6848896 (GRCh37)
Canonical SPDI:: NC_000008.11:6991373:C:T
Gene:: DEFT1P (Varview), LOC124901874 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00009/1 (TOMMO)
HGVS:: NC_000008.11:g.6991374C>T, NC_000008.10:g.6848896C>T, NW_018654717.1:g.386491C>T

Select item 14893820912.

rs1489382091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:6991056 (GRCh38)
8:6848578 (GRCh37)
Canonical SPDI:: NC_000008.11:6991055:G:A,NC_000008.11:6991055:G:C
Gene:: DEFT1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.6991056G>A, NC_000008.11:g.6991056G>C, NC_000008.10:g.6848578G>A, NC_000008.10:g.6848578G>C, NW_018654717.1:g.386173G>A, NW_018654717.1:g.386173G>C

Select item 14892891463.

rs1489289146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:6991138 (GRCh38)
8:6848660 (GRCh37)
Canonical SPDI:: NC_000008.11:6991137:T:C
Gene:: DEFT1P (Varview), LOC124901874 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00024/18 (GnomAD)
HGVS:: NC_000008.11:g.6991138T>C, NC_000008.10:g.6848660T>C, NW_018654717.1:g.386255T>C

Select item 14891276284.

rs1489127628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:6990991 (GRCh38)
8:6848513 (GRCh37)
Canonical SPDI:: NC_000008.11:6990990:C:T
Gene:: DEFT1P (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=0.000804/13 (TOMMO)
T=0.001061/3 (KOREAN)
T=0.001703/3 (Korea1K)
HGVS:: NC_000008.11:g.6990991C>T, NC_000008.10:g.6848513C>T, NW_018654717.1:g.386108C>T

Select item 14864857645.

rs1486485764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:6990844 (GRCh38)
8:6848366 (GRCh37)
Canonical SPDI:: NC_000008.11:6990843:G:A
Gene:: DEFT1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/3 (GnomAD)
A=0.00026/4 (TOMMO)
HGVS:: NC_000008.11:g.6990844G>A, NC_000008.10:g.6848366G>A, NW_018654717.1:g.385961G>A

Select item 14864741226.

rs1486474122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:6990272 (GRCh38)
8:6847794 (GRCh37)
Canonical SPDI:: NC_000008.11:6990271:G:A
Gene:: DEFT1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000039/5 (GnomAD)
HGVS:: NC_000008.11:g.6990272G>A, NC_000008.10:g.6847794G>A, NW_018654717.1:g.385389G>A

Select item 14861545357.

rs1486154535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:6991143 (GRCh38)
8:6848665 (GRCh37)
Canonical SPDI:: NC_000008.11:6991142:G:T
Gene:: DEFT1P (Varview), LOC124901874 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/3 (GnomAD)
HGVS:: NC_000008.11:g.6991143G>T, NC_000008.10:g.6848665G>T, NW_018654717.1:g.386260G>T

Select item 14860184578.

rs1486018457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:6990663 (GRCh38)
8:6848185 (GRCh37)
Canonical SPDI:: NC_000008.11:6990662:T:C
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.6990663T>C, NC_000008.10:g.6848185T>C, NW_018654717.1:g.385780T>C

Select item 14858277769.

rs1485827776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:6990311 (GRCh38)
8:6847833 (GRCh37)
Canonical SPDI:: NC_000008.11:6990310:G:T
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000024/3 (GnomAD)
T=0.000036/1 (TOMMO)
HGVS:: NC_000008.11:g.6990311G>T, NC_000008.10:g.6847833G>T, NW_018654717.1:g.385428G>T

Select item 148581788810.

rs1485817888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:6989867 (GRCh38)
8:6847389 (GRCh37)
Canonical SPDI:: NC_000008.11:6989866:A:T
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.6989867A>T, NC_000008.10:g.6847389A>T, NW_018654717.1:g.384984A>T

Select item 148541077111.

rs1485410771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:6990156 (GRCh38)
8:6847678 (GRCh37)
Canonical SPDI:: NC_000008.11:6990155:C:A,NC_000008.11:6990155:C:T
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000038/5 (GnomAD)
HGVS:: NC_000008.11:g.6990156C>A, NC_000008.11:g.6990156C>T, NC_000008.10:g.6847678C>A, NC_000008.10:g.6847678C>T, NW_018654717.1:g.385273C>A, NW_018654717.1:g.385273C>T

Select item 148531087412.

rs1485310874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:6989679 (GRCh38)
8:6847201 (GRCh37)
Canonical SPDI:: NC_000008.11:6989678:G:A
Gene:: DEFT1P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.6989679G>A, NC_000008.10:g.6847201G>A, NW_018654717.1:g.384796G>A, NM_139127.2:c.-55C>T, NR_036686.1:n.43C>T

Select item 148498435913.

rs1484984359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:6989906 (GRCh38)
8:6847428 (GRCh37)
Canonical SPDI:: NC_000008.11:6989905:A:G
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.6989906A>G, NC_000008.10:g.6847428A>G, NW_018654717.1:g.385023A>G

Select item 148445495014.

rs1484454950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:6989268 (GRCh38)
8:6846790 (GRCh37)
Canonical SPDI:: NC_000008.11:6989267:C:T
Gene:: DEFT1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01846/219 (ALFA)
T=0.02772/28 (KOREAN)
T=0.03191/3 (Korea1K)
T=0.03599/285 (TOMMO)
HGVS:: NC_000008.11:g.6989268C>T, NC_000008.10:g.6846790C>T, NW_018654717.1:g.384385C>T

Select item 148409694915.

rs1484096949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:6990209 (GRCh38)
8:6847731 (GRCh37)
Canonical SPDI:: NC_000008.11:6990208:G:T
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000194/25 (GnomAD)
HGVS:: NC_000008.11:g.6990209G>T, NC_000008.10:g.6847731G>T, NW_018654717.1:g.385326G>T

Select item 148320436416.

rs1483204364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:6989432 (GRCh38)
8:6846954 (GRCh37)
Canonical SPDI:: NC_000008.11:6989431:G:A
Gene:: DEFT1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00034/4 (ALFA)
HGVS:: NC_000008.11:g.6989432G>A, NC_000008.10:g.6846954G>A, NW_018654717.1:g.384549G>A

Select item 148317572517.

rs1483175725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:6989664 (GRCh38)
8:6847186 (GRCh37)
Canonical SPDI:: NC_000008.11:6989663:C:T
Gene:: DEFT1P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.6989664C>T, NC_000008.10:g.6847186C>T, NW_018654717.1:g.384781C>T, NM_139127.2:c.-40G>A, NR_036686.1:n.58G>A

Select item 148311326218.

rs1483113262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:6990777 (GRCh38)
8:6848299 (GRCh37)
Canonical SPDI:: NC_000008.11:6990776:G:A
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.6990777G>A, NC_000008.10:g.6848299G>A, NW_018654717.1:g.385894G>A

Select item 148308015819.

rs1483080158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:6991233 (GRCh38)
8:6848755 (GRCh37)
Canonical SPDI:: NC_000008.11:6991232:A:G
Gene:: DEFT1P (Varview), LOC124901874 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.6991233A>G, NC_000008.10:g.6848755A>G, NW_018654717.1:g.386350A>G

Select item 148250144120.

rs1482501441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:6990602 (GRCh38)
8:6848124 (GRCh37)
Canonical SPDI:: NC_000008.11:6990601:T:C
Gene:: DEFT1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.00016/1 (1000Genomes)
C=0.00043/35 (GnomAD)
HGVS:: NC_000008.11:g.6990602T>C, NC_000008.10:g.6848124T>C, NW_018654717.1:g.385719T>C

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