SNP Links for Protein (Select 22218349) - SNP

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Links from Protein

Items: 1 to 20 of 407

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Select item 14879075471.

rs1487907547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:46512274 (GRCh38)
1:46977946 (GRCh37)
Canonical SPDI:: NC_000001.11:46512273:C:A
Gene:: DMBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46512274C>A, NC_000001.10:g.46977946C>A, NG_050727.1:g.27438C>A, NM_147192.4:c.929C>A, NM_147192.3:c.929C>A, NM_147192.2:c.929C>A, NM_172225.2:c.914C>A, NM_172225.1:c.914C>A, NM_001387776.1:c.929C>A, NM_001387775.1:c.914C>A, NP_671725.1:p.Ala310Asp, NP_757379.1:p.Ala305Asp, NP_001374705.1:p.Ala310Asp, NP_001374704.1:p.Ala305Asp

Select item 14834725192.

rs1483472519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46511013 (GRCh38)
1:46976685 (GRCh37)
Canonical SPDI:: NC_000001.11:46511012:G:A
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46511013G>A, NC_000001.10:g.46976685G>A, NG_050727.1:g.26177G>A, NM_147192.4:c.427G>A, NM_147192.3:c.427G>A, NM_147192.2:c.427G>A, NM_172225.2:c.412G>A, NM_172225.1:c.412G>A, NM_001387776.1:c.427G>A, NM_001387775.1:c.412G>A, NP_671725.1:p.Glu143Lys, NP_757379.1:p.Glu138Lys, NP_001374705.1:p.Glu143Lys, NP_001374704.1:p.Glu138Lys

Select item 14826150033.

rs1482615003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:46512097 (GRCh38)
1:46977769 (GRCh37)
Canonical SPDI:: NC_000001.11:46512096:G:A,NC_000001.11:46512096:G:T
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0011/2 (Korea1K)
HGVS:: NC_000001.11:g.46512097G>A, NC_000001.11:g.46512097G>T, NC_000001.10:g.46977769G>A, NC_000001.10:g.46977769G>T, NG_050727.1:g.27261G>A, NG_050727.1:g.27261G>T, NM_147192.4:c.752G>A, NM_147192.4:c.752G>T, NM_147192.3:c.752G>A, NM_147192.3:c.752G>T, NM_147192.2:c.752G>A, NM_147192.2:c.752G>T, NM_172225.2:c.737G>A, NM_172225.2:c.737G>T, NM_172225.1:c.737G>A, NM_172225.1:c.737G>T, NM_001387776.1:c.752G>A, NM_001387776.1:c.752G>T, NM_001387775.1:c.737G>A, NM_001387775.1:c.737G>T, NP_671725.1:p.Gly251Asp, NP_671725.1:p.Gly251Val, NP_757379.1:p.Gly246Asp, NP_757379.1:p.Gly246Val, NP_001374705.1:p.Gly251Asp, NP_001374705.1:p.Gly251Val, NP_001374704.1:p.Gly246Asp, NP_001374704.1:p.Gly246Val

Select item 14816101474.

rs1481610147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46507075 (GRCh38)
1:46972747 (GRCh37)
Canonical SPDI:: NC_000001.11:46507074:A:G
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.46507075A>G, NC_000001.10:g.46972747A>G, NG_050727.1:g.22239A>G, NM_147192.4:c.65A>G, NM_147192.3:c.65A>G, NM_147192.2:c.65A>G, NM_172225.2:c.65A>G, NM_172225.1:c.65A>G, NM_001387776.1:c.65A>G, NM_001387775.1:c.65A>G, NP_671725.1:p.Asn22Ser, NP_757379.1:p.Asn22Ser, NP_001374705.1:p.Asn22Ser, NP_001374704.1:p.Asn22Ser

Select item 14794209015.

rs1479420901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46512221 (GRCh38)
1:46977893 (GRCh37)
Canonical SPDI:: NC_000001.11:46512220:C:T
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46512221C>T, NC_000001.10:g.46977893C>T, NG_050727.1:g.27385C>T, NM_147192.4:c.876C>T, NM_147192.3:c.876C>T, NM_147192.2:c.876C>T, NM_172225.2:c.861C>T, NM_172225.1:c.861C>T, NM_001387776.1:c.876C>T, NM_001387775.1:c.861C>T

Select item 14793994826.

rs1479399482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46511277 (GRCh38)
1:46976949 (GRCh37)
Canonical SPDI:: NC_000001.11:46511276:A:G
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46511277A>G, NC_000001.10:g.46976949A>G, NG_050727.1:g.26441A>G, NM_147192.4:c.691A>G, NM_147192.3:c.691A>G, NM_147192.2:c.691A>G, NM_172225.2:c.676A>G, NM_172225.1:c.676A>G, NM_001387776.1:c.691A>G, NM_001387775.1:c.676A>G, NP_671725.1:p.Lys231Glu, NP_757379.1:p.Lys226Glu, NP_001374705.1:p.Lys231Glu, NP_001374704.1:p.Lys226Glu

Select item 14774924507.

rs1477492450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46510955 (GRCh38)
1:46976627 (GRCh37)
Canonical SPDI:: NC_000001.11:46510954:G:A
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46510955G>A, NC_000001.10:g.46976627G>A, NG_050727.1:g.26119G>A, NM_147192.4:c.369G>A, NM_147192.3:c.369G>A, NM_147192.2:c.369G>A, NM_172225.2:c.354G>A, NM_172225.1:c.354G>A, NM_001387776.1:c.369G>A, NM_001387775.1:c.354G>A

Select item 14753350918.

rs1475335091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:46512143 (GRCh38)
1:46977815 (GRCh37)
Canonical SPDI:: NC_000001.11:46512142:G:T
Gene:: DMBX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.46512143G>T, NC_000001.10:g.46977815G>T, NG_050727.1:g.27307G>T, NM_147192.4:c.798G>T, NM_147192.3:c.798G>T, NM_147192.2:c.798G>T, NM_172225.2:c.783G>T, NM_172225.1:c.783G>T, NM_001387776.1:c.798G>T, NM_001387775.1:c.783G>T

Select item 14719822569.

rs1471982256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:46512374 (GRCh38)
1:46978046 (GRCh37)
Canonical SPDI:: NC_000001.11:46512373:C:G
Gene:: DMBX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46512374C>G, NC_000001.10:g.46978046C>G, NG_050727.1:g.27538C>G, NM_147192.4:c.1029C>G, NM_147192.3:c.1029C>G, NM_147192.2:c.1029C>G, NM_172225.2:c.1014C>G, NM_172225.1:c.1014C>G, NM_001387776.1:c.1029C>G, NM_001387775.1:c.1014C>G

Select item 146700717110.

rs1467007171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:46511148 (GRCh38)
1:46976820 (GRCh37)
Canonical SPDI:: NC_000001.11:46511147:G:T
Gene:: DMBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46511148G>T, NC_000001.10:g.46976820G>T, NG_050727.1:g.26312G>T, NM_147192.4:c.562G>T, NM_147192.3:c.562G>T, NM_147192.2:c.562G>T, NM_172225.2:c.547G>T, NM_172225.1:c.547G>T, NM_001387776.1:c.562G>T, NM_001387775.1:c.547G>T, NP_671725.1:p.Ala188Ser, NP_757379.1:p.Ala183Ser, NP_001374705.1:p.Ala188Ser, NP_001374704.1:p.Ala183Ser

Select item 146416900711.

rs1464169007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46510646 (GRCh38)
1:46976318 (GRCh37)
Canonical SPDI:: NC_000001.11:46510645:C:T
Gene:: DMBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46510646C>T, NC_000001.10:g.46976318C>T, NG_050727.1:g.25810C>T, NM_147192.4:c.340C>T, NM_147192.3:c.340C>T, NM_147192.2:c.340C>T, NM_172225.2:c.325C>T, NM_172225.1:c.325C>T, NM_001387776.1:c.340C>T, NM_001387775.1:c.325C>T, NP_671725.1:p.Arg114Trp, NP_757379.1:p.Arg109Trp, NP_001374705.1:p.Arg114Trp, NP_001374704.1:p.Arg109Trp

Select item 146374964212.

rs1463749642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:46511232 (GRCh38)
1:46976904 (GRCh37)
Canonical SPDI:: NC_000001.11:46511231:C:A
Gene:: DMBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46511232C>A, NC_000001.10:g.46976904C>A, NG_050727.1:g.26396C>A, NM_147192.4:c.646C>A, NM_147192.3:c.646C>A, NM_147192.2:c.646C>A, NM_172225.2:c.631C>A, NM_172225.1:c.631C>A, NM_001387776.1:c.646C>A, NM_001387775.1:c.631C>A, NP_671725.1:p.Pro216Thr, NP_757379.1:p.Pro211Thr, NP_001374705.1:p.Pro216Thr, NP_001374704.1:p.Pro211Thr

Select item 145798738313.

rs1457987383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46512157 (GRCh38)
1:46977829 (GRCh37)
Canonical SPDI:: NC_000001.11:46512156:G:A
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46512157G>A, NC_000001.10:g.46977829G>A, NG_050727.1:g.27321G>A, NM_147192.4:c.812G>A, NM_147192.3:c.812G>A, NM_147192.2:c.812G>A, NM_172225.2:c.797G>A, NM_172225.1:c.797G>A, NM_001387776.1:c.812G>A, NM_001387775.1:c.797G>A, NP_671725.1:p.Arg271His, NP_757379.1:p.Arg266His, NP_001374705.1:p.Arg271His, NP_001374704.1:p.Arg266His

Select item 145732792414.

rs1457327924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46507090 (GRCh38)
1:46972762 (GRCh37)
Canonical SPDI:: NC_000001.11:46507089:C:T
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46507090C>T, NC_000001.10:g.46972762C>T, NG_050727.1:g.22254C>T, NM_147192.4:c.80C>T, NM_147192.3:c.80C>T, NM_147192.2:c.80C>T, NM_172225.2:c.80C>T, NM_172225.1:c.80C>T, NM_001387776.1:c.80C>T, NM_001387775.1:c.80C>T, NP_671725.1:p.Ala27Val, NP_757379.1:p.Ala27Val, NP_001374705.1:p.Ala27Val, NP_001374704.1:p.Ala27Val

Select item 145602660615.

rs1456026606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46507103 (GRCh38)
1:46972775 (GRCh37)
Canonical SPDI:: NC_000001.11:46507102:C:T
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.46507103C>T, NC_000001.10:g.46972775C>T, NG_050727.1:g.22267C>T, NM_147192.4:c.93C>T, NM_147192.3:c.93C>T, NM_147192.2:c.93C>T, NM_172225.2:c.93C>T, NM_172225.1:c.93C>T, NM_001387776.1:c.93C>T, NM_001387775.1:c.93C>T

Select item 145529128416.

rs1455291284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:46510598 (GRCh38)
1:46976270 (GRCh37)
Canonical SPDI:: NC_000001.11:46510597:G:A,NC_000001.11:46510597:G:T
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46510598G>A, NC_000001.11:g.46510598G>T, NC_000001.10:g.46976270G>A, NC_000001.10:g.46976270G>T, NG_050727.1:g.25762G>A, NG_050727.1:g.25762G>T, NM_147192.4:c.292G>A, NM_147192.4:c.292G>T, NM_147192.3:c.292G>A, NM_147192.3:c.292G>T, NM_147192.2:c.292G>A, NM_147192.2:c.292G>T, NM_172225.2:c.277G>A, NM_172225.2:c.277G>T, NM_172225.1:c.277G>A, NM_172225.1:c.277G>T, NM_001387776.1:c.292G>A, NM_001387776.1:c.292G>T, NM_001387775.1:c.277G>A, NM_001387775.1:c.277G>T, NP_671725.1:p.Val98Met, NP_671725.1:p.Val98Leu, NP_757379.1:p.Val93Met, NP_757379.1:p.Val93Leu, NP_001374705.1:p.Val98Met, NP_001374705.1:p.Val98Leu, NP_001374704.1:p.Val93Met, NP_001374704.1:p.Val93Leu

Select item 145484806217.

rs1454848062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46507100 (GRCh38)
1:46972772 (GRCh37)
Canonical SPDI:: NC_000001.11:46507099:G:A
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46507100G>A, NC_000001.10:g.46972772G>A, NG_050727.1:g.22264G>A, NM_147192.4:c.90G>A, NM_147192.3:c.90G>A, NM_147192.2:c.90G>A, NM_172225.2:c.90G>A, NM_172225.1:c.90G>A, NM_001387776.1:c.90G>A, NM_001387775.1:c.90G>A

Select item 145269267618.

rs1452692676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:46512493 (GRCh38)
1:46978165 (GRCh37)
Canonical SPDI:: NC_000001.11:46512492:G:C,NC_000001.11:46512492:G:T
Gene:: DMBX1 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.46512493G>C, NC_000001.11:g.46512493G>T, NC_000001.10:g.46978165G>C, NC_000001.10:g.46978165G>T, NG_050727.1:g.27657G>C, NG_050727.1:g.27657G>T, NM_147192.4:c.1148G>C, NM_147192.4:c.1148G>T, NM_147192.3:c.1148G>C, NM_147192.3:c.1148G>T, NM_147192.2:c.1148G>C, NM_147192.2:c.1148G>T, NM_172225.2:c.1133G>C, NM_172225.2:c.1133G>T, NM_172225.1:c.1133G>C, NM_172225.1:c.1133G>T, NM_001387776.1:c.1148G>C, NM_001387776.1:c.1148G>T, NM_001387775.1:c.1133G>C, NM_001387775.1:c.1133G>T, NP_671725.1:p.Ter383Ser, NP_671725.1:p.Ter383Leu, NP_757379.1:p.Ter378Ser, NP_757379.1:p.Ter378Leu, NP_001374705.1:p.Ter383Ser, NP_001374705.1:p.Ter383Leu, NP_001374704.1:p.Ter378Ser, NP_001374704.1:p.Ter378Leu

Select item 144779506119.

rs1447795061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46512130 (GRCh38)
1:46977802 (GRCh37)
Canonical SPDI:: NC_000001.11:46512129:G:A
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46512130G>A, NC_000001.10:g.46977802G>A, NG_050727.1:g.27294G>A, NM_147192.4:c.785G>A, NM_147192.3:c.785G>A, NM_147192.2:c.785G>A, NM_172225.2:c.770G>A, NM_172225.1:c.770G>A, NM_001387776.1:c.785G>A, NM_001387775.1:c.770G>A, NP_671725.1:p.Ser262Asn, NP_757379.1:p.Ser257Asn, NP_001374705.1:p.Ser262Asn, NP_001374704.1:p.Ser257Asn

Select item 144755902720.

rs1447559027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46510619 (GRCh38)
1:46976291 (GRCh37)
Canonical SPDI:: NC_000001.11:46510618:G:A
Gene:: DMBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.46510619G>A, NC_000001.10:g.46976291G>A, NG_050727.1:g.25783G>A, NM_147192.4:c.313G>A, NM_147192.3:c.313G>A, NM_147192.2:c.313G>A, NM_172225.2:c.298G>A, NM_172225.1:c.298G>A, NM_001387776.1:c.313G>A, NM_001387775.1:c.298G>A, NP_671725.1:p.Ala105Thr, NP_757379.1:p.Ala100Thr, NP_001374705.1:p.Ala105Thr, NP_001374704.1:p.Ala100Thr

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