SNP Links for Protein (Select 148539642) - SNP

Links from Protein

Items: 1 to 20 of 405

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Select item 14908225751.

rs1490822575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:18206917 (GRCh38)
17:18110231 (GRCh37)
Canonical SPDI:: NC_000017.11:18206916:T:C
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18206917T>C, NC_000017.10:g.18110231T>C, NM_017758.4:c.954T>C, NM_017758.3:c.954T>C

Select item 14906578922.

rs1490657892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:18208347 (GRCh38)
17:18111661 (GRCh37)
Canonical SPDI:: NC_000017.11:18208346:C:G,NC_000017.11:18208346:C:T
Gene:: ALKBH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00014/2 (TOMMO)
HGVS:: NC_000017.11:g.18208347C>G, NC_000017.11:g.18208347C>T, NC_000017.10:g.18111661C>G, NC_000017.10:g.18111661C>T, NM_017758.4:c.1136C>G, NM_017758.4:c.1136C>T, NM_017758.3:c.1136C>G, NM_017758.3:c.1136C>T, NP_060228.3:p.Ser379Cys, NP_060228.3:p.Ser379Phe

Select item 14885596433.

rs1488559643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:18184975 (GRCh38)
17:18088289 (GRCh37)
Canonical SPDI:: NC_000017.11:18184974:T:G
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18184975T>G, NC_000017.10:g.18088289T>G, NM_017758.4:c.732T>G, NM_017758.3:c.732T>G

Select item 14878119704.

rs1487811970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18184684 (GRCh38)
17:18087998 (GRCh37)
Canonical SPDI:: NC_000017.11:18184683:G:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18184684G>A, NC_000017.10:g.18087998G>A, NM_017758.4:c.441G>A, NM_017758.3:c.441G>A

Select item 14877525225.

rs1487752522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18184361 (GRCh38)
17:18087675 (GRCh37)
Canonical SPDI:: NC_000017.11:18184360:G:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000027/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18184361G>A, NC_000017.10:g.18087675G>A, NM_017758.4:c.118G>A, NM_017758.3:c.118G>A, NP_060228.3:p.Ala40Thr

Select item 14849883966.

rs1484988396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:18184369 (GRCh38)
17:18087683 (GRCh37)
Canonical SPDI:: NC_000017.11:18184368:C:A,NC_000017.11:18184368:C:G,NC_000017.11:18184368:C:T
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.18184369C>A, NC_000017.11:g.18184369C>G, NC_000017.11:g.18184369C>T, NC_000017.10:g.18087683C>A, NC_000017.10:g.18087683C>G, NC_000017.10:g.18087683C>T, NM_017758.4:c.126C>A, NM_017758.4:c.126C>G, NM_017758.4:c.126C>T, NM_017758.3:c.126C>A, NM_017758.3:c.126C>G, NM_017758.3:c.126C>T

Select item 14828742187.

rs1482874218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18184747 (GRCh38)
17:18088061 (GRCh37)
Canonical SPDI:: NC_000017.11:18184746:G:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18184747G>A, NC_000017.10:g.18088061G>A, NM_017758.4:c.504G>A, NM_017758.3:c.504G>A

Select item 14789738888.

rs1478973888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:18184468 (GRCh38)
17:18087782 (GRCh37)
Canonical SPDI:: NC_000017.11:18184467:G:C
Gene:: ALKBH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18184468G>C, NC_000017.10:g.18087782G>C, NM_017758.4:c.225G>C, NM_017758.3:c.225G>C, NP_060228.3:p.Gln75His

Select item 14771734669.

rs1477173466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18184319 (GRCh38)
17:18087633 (GRCh37)
Canonical SPDI:: NC_000017.11:18184318:G:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.18184319G>A, NC_000017.10:g.18087633G>A, NM_017758.4:c.76G>A, NM_017758.3:c.76G>A, NP_060228.3:p.Gly26Ser

Select item 147450162310.

rs1474501623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18184331 (GRCh38)
17:18087645 (GRCh37)
Canonical SPDI:: NC_000017.11:18184330:G:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.18184331G>A, NC_000017.10:g.18087645G>A, NM_017758.4:c.88G>A, NM_017758.3:c.88G>A, NP_060228.3:p.Ala30Thr

Select item 147401609611.

rs1474016096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18184376 (GRCh38)
17:18087690 (GRCh37)
Canonical SPDI:: NC_000017.11:18184375:G:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.18184376G>A, NC_000017.10:g.18087690G>A, NM_017758.4:c.133G>A, NM_017758.3:c.133G>A, NP_060228.3:p.Ala45Thr

Select item 146696734512.

rs1466967345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:18184777 (GRCh38)
17:18088091 (GRCh37)
Canonical SPDI:: NC_000017.11:18184776:G:C,NC_000017.11:18184776:G:T
Gene:: ALKBH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18184777G>C, NC_000017.11:g.18184777G>T, NC_000017.10:g.18088091G>C, NC_000017.10:g.18088091G>T, NM_017758.4:c.534G>C, NM_017758.4:c.534G>T, NM_017758.3:c.534G>C, NM_017758.3:c.534G>T, NP_060228.3:p.Glu178Asp, NP_060228.3:p.Glu178Asp

Select item 146558251213.

rs1465582512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:18184252 (GRCh38)
17:18087566 (GRCh37)
Canonical SPDI:: NC_000017.11:18184251:C:A,NC_000017.11:18184251:C:T
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18184252C>A, NC_000017.11:g.18184252C>T, NC_000017.10:g.18087566C>A, NC_000017.10:g.18087566C>T, NM_017758.4:c.9C>A, NM_017758.4:c.9C>T, NM_017758.3:c.9C>A, NM_017758.3:c.9C>T

Select item 146027173614.

rs1460271736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18184260 (GRCh38)
17:18087574 (GRCh37)
Canonical SPDI:: NC_000017.11:18184259:G:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000027/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18184260G>A, NC_000017.10:g.18087574G>A, NM_017758.4:c.17G>A, NM_017758.3:c.17G>A, NP_060228.3:p.Gly6Asp

Select item 145733499015.

rs1457334990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18184299 (GRCh38)
17:18087613 (GRCh37)
Canonical SPDI:: NC_000017.11:18184298:C:T
Gene:: ALKBH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000134/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.18184299C>T, NC_000017.10:g.18087613C>T, NM_017758.4:c.56C>T, NM_017758.3:c.56C>T, NP_060228.3:p.Ser19Phe

Select item 145598889016.

rs1455988890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:18184292 (GRCh38)
17:18087606 (GRCh37)
Canonical SPDI:: NC_000017.11:18184291:A:T
Gene:: ALKBH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.18184292A>T, NC_000017.10:g.18087606A>T, NM_017758.4:c.49A>T, NM_017758.3:c.49A>T, NP_060228.3:p.Met17Leu

Select item 145425328417.

rs1454253284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:18195015 (GRCh38)
17:18098329 (GRCh37)
Canonical SPDI:: NC_000017.11:18195014:A:C
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18195015A>C, NC_000017.10:g.18098329A>C, NM_017758.4:c.831A>C, NM_017758.3:c.831A>C

Select item 145185580618.

rs1451855806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:18184311 (GRCh38)
17:18087625 (GRCh37)
Canonical SPDI:: NC_000017.11:18184310:A:G,NC_000017.11:18184310:A:T
Gene:: ALKBH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18184311A>G, NC_000017.11:g.18184311A>T, NC_000017.10:g.18087625A>G, NC_000017.10:g.18087625A>T, NM_017758.4:c.68A>G, NM_017758.4:c.68A>T, NM_017758.3:c.68A>G, NM_017758.3:c.68A>T, NP_060228.3:p.Tyr23Cys, NP_060228.3:p.Tyr23Phe

Select item 145116419519.

rs1451164195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:18206849 (GRCh38)
17:18110163 (GRCh37)
Canonical SPDI:: NC_000017.11:18206848:T:A
Gene:: ALKBH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18206849T>A, NC_000017.10:g.18110163T>A, NM_017758.4:c.886T>A, NM_017758.3:c.886T>A, NP_060228.3:p.Ser296Thr

Select item 145003154320.

rs1450031543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18184390 (GRCh38)
17:18087704 (GRCh37)
Canonical SPDI:: NC_000017.11:18184389:A:G
Gene:: ALKBH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18184390A>G, NC_000017.10:g.18087704A>G, NM_017758.4:c.147A>G, NM_017758.3:c.147A>G

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