SNP Links for Protein (Select 527498244) - SNP

Links from Protein

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Select item 14895301811.

rs1489530181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1592605 (GRCh38)
19:1592604 (GRCh37)
Canonical SPDI:: NC_000019.10:1592604:C:T
Gene:: MBD3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_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_000019.10:g.1592605C>T, NC_000019.9:g.1592604C>T, NG_029897.2:g.5049G>A, NM_001281453.2:c.27G>A, NM_001281453.1:c.27G>A, NM_003926.5:c.27G>A, NM_003926.4:c.27G>A, NM_003926.3:c.27G>A, NM_003926.2:c.27G>A, XM_047438939.1:c.27G>A, NM_003926.1:c.*1613C>T

Select item 14861339092.

rs1486133909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1584644 (GRCh38)
19:1584643 (GRCh37)
Canonical SPDI:: NC_000019.10:1584643:G:A
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.1584644G>A, NC_000019.9:g.1584643G>A, NG_029897.2:g.13010C>T, NM_001281453.2:c.304C>T, NM_001281453.1:c.304C>T, NM_001281454.2:c.208C>T, NM_001281454.1:c.208C>T, NM_003926.5:c.304C>T, NM_003926.4:c.304C>T, NM_003926.3:c.304C>T, NM_003926.2:c.304C>T, XM_047438939.1:c.304C>T, NM_003926.1:c.*1336G>A, NP_001268382.1:p.Arg102Cys, NP_001268383.1:p.Arg70Cys, XP_047294895.1:p.Arg102Cys

Select item 14855702653.

rs1485570265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1585153 (GRCh38)
19:1585152 (GRCh37)
Canonical SPDI:: NC_000019.10:1585152:C:T
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1585153C>T, NC_000019.9:g.1585152C>T, NG_029897.2:g.12501G>A, NM_001281453.2:c.172G>A, NM_001281453.1:c.172G>A, NM_001281454.2:c.76G>A, NM_001281454.1:c.76G>A, NM_003926.5:c.172G>A, NM_003926.4:c.172G>A, NM_003926.3:c.172G>A, NM_003926.2:c.172G>A, XM_047438939.1:c.172G>A, NM_003926.1:c.*1468C>T, NP_001268382.1:p.Asp58Asn, NP_001268383.1:p.Asp26Asn, XP_047294895.1:p.Asp58Asn

Select item 14831967724.

rs1483196772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1578474 (GRCh38)
19:1578473 (GRCh37)
Canonical SPDI:: NC_000019.10:1578473:G:A
Gene:: MBD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1578474G>A, NC_000019.9:g.1578473G>A, NG_029897.2:g.19180C>T, NM_001281453.2:c.742C>T, NM_001281453.1:c.742C>T, NM_001281454.2:c.646C>T, NM_001281454.1:c.646C>T, NM_003926.5:c.742C>T, NM_003926.4:c.742C>T, NM_003926.3:c.742C>T, NM_003926.2:c.742C>T, XM_047438939.1:c.742C>T, NM_003926.1:c.*898G>A

Select item 14814353365.

rs1481435336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:1578350 (GRCh38)
19:1578349 (GRCh37)
Canonical SPDI:: NC_000019.10:1578349:T:C
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.1578350T>C, NC_000019.9:g.1578349T>C, NG_029897.2:g.19304A>G, NM_001281453.2:c.866A>G, NM_001281453.1:c.866A>G, NM_001281454.2:c.770A>G, NM_001281454.1:c.770A>G, NM_003926.5:c.866A>G, NM_003926.4:c.866A>G, NM_003926.3:c.866A>G, NM_003926.2:c.866A>G, XM_047438939.1:c.866A>G, NM_003926.1:c.*774T>C, NP_001268382.1:p.Glu289Gly, NP_001268383.1:p.Glu257Gly, XP_047294895.1:p.Glu289Gly

Select item 14812396616.

rs1481239661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1585205 (GRCh38)
19:1585204 (GRCh37)
Canonical SPDI:: NC_000019.10:1585204:C:T
Gene:: MBD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1585205C>T, NC_000019.9:g.1585204C>T, NG_029897.2:g.12449G>A, NM_001281453.2:c.120G>A, NM_001281453.1:c.120G>A, NM_001281454.2:c.24G>A, NM_001281454.1:c.24G>A, NM_003926.5:c.120G>A, NM_003926.4:c.120G>A, NM_003926.3:c.120G>A, NM_003926.2:c.120G>A, XM_047438939.1:c.120G>A, NM_003926.1:c.*1520C>T

Select item 14785518257.

rs1478551825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:1585100 (GRCh38)
19:1585099 (GRCh37)
Canonical SPDI:: NC_000019.10:1585099:G:C
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.1585100G>C, NC_000019.9:g.1585099G>C, NG_029897.2:g.12554C>G, NM_001281453.2:c.225C>G, NM_001281453.1:c.225C>G, NM_001281454.2:c.129C>G, NM_001281454.1:c.129C>G, NM_003926.5:c.225C>G, NM_003926.4:c.225C>G, NM_003926.3:c.225C>G, NM_003926.2:c.225C>G, XM_047438939.1:c.225C>G, NM_003926.1:c.*1415G>C, NP_001268382.1:p.Asn75Lys, NP_001268383.1:p.Asn43Lys, XP_047294895.1:p.Asn75Lys

Select item 14782805778.

rs1478280577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:1578475 (GRCh38)
19:1578474 (GRCh37)
Canonical SPDI:: NC_000019.10:1578474:C:G
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.1578475C>G, NC_000019.9:g.1578474C>G, NG_029897.2:g.19179G>C, NM_001281453.2:c.741G>C, NM_001281453.1:c.741G>C, NM_001281454.2:c.645G>C, NM_001281454.1:c.645G>C, NM_003926.5:c.741G>C, NM_003926.4:c.741G>C, NM_003926.3:c.741G>C, NM_003926.2:c.741G>C, XM_047438939.1:c.741G>C, NM_003926.1:c.*899C>G, NP_001268382.1:p.Met247Ile, NP_001268383.1:p.Met215Ile, XP_047294895.1:p.Met247Ile

Select item 14770349249.

rs1477034924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:1592533 (GRCh38)
19:1592532 (GRCh37)
Canonical SPDI:: NC_000019.10:1592532:G:A,NC_000019.10:1592532:G:C
Gene:: MBD3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00007/2 (TOMMO)
HGVS:: NC_000019.10:g.1592533G>A, NC_000019.10:g.1592533G>C, NC_000019.9:g.1592532G>A, NC_000019.9:g.1592532G>C, NG_029897.2:g.5121C>T, NG_029897.2:g.5121C>G, NM_001281453.2:c.99C>T, NM_001281453.2:c.99C>G, NM_001281453.1:c.99C>T, NM_001281453.1:c.99C>G, NM_003926.5:c.99C>T, NM_003926.5:c.99C>G, NM_003926.4:c.99C>T, NM_003926.4:c.99C>G, NM_003926.3:c.99C>T, NM_003926.3:c.99C>G, NM_003926.2:c.99C>T, NM_003926.2:c.99C>G, XM_047438939.1:c.99C>T, XM_047438939.1:c.99C>G, NM_003926.1:c.*1541G>A, NM_003926.1:c.*1541G>C

Select item 147527686510.

rs1475276865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1584549 (GRCh38)
19:1584548 (GRCh37)
Canonical SPDI:: NC_000019.10:1584548:C:T
Gene:: MBD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.1584549C>T, NC_000019.9:g.1584548C>T, NG_029897.2:g.13105G>A, NM_001281453.2:c.399G>A, NM_001281453.1:c.399G>A, NM_001281454.2:c.303G>A, NM_001281454.1:c.303G>A, NM_003926.5:c.399G>A, NM_003926.4:c.399G>A, NM_003926.3:c.399G>A, NM_003926.2:c.399G>A, XM_047438939.1:c.399G>A, NM_003926.1:c.*1241C>T

Select item 147520367511.

rs1475203675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1584569 (GRCh38)
19:1584568 (GRCh37)
Canonical SPDI:: NC_000019.10:1584568:G:A
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1584569G>A, NC_000019.9:g.1584568G>A, NG_029897.2:g.13085C>T, NM_001281453.2:c.379C>T, NM_001281453.1:c.379C>T, NM_001281454.2:c.283C>T, NM_001281454.1:c.283C>T, NM_003926.5:c.379C>T, NM_003926.4:c.379C>T, NM_003926.3:c.379C>T, NM_003926.2:c.379C>T, XM_047438939.1:c.379C>T, NM_003926.1:c.*1261G>A, NP_001268382.1:p.Pro127Ser, NP_001268383.1:p.Pro95Ser, XP_047294895.1:p.Pro127Ser

Select item 147418320112.

rs1474183201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:1584648 (GRCh38)
19:1584647 (GRCh37)
Canonical SPDI:: NC_000019.10:1584647:G:A,NC_000019.10:1584647:G:T
Gene:: MBD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.1584648G>A, NC_000019.10:g.1584648G>T, NC_000019.9:g.1584647G>A, NC_000019.9:g.1584647G>T, NG_029897.2:g.13006C>T, NG_029897.2:g.13006C>A, NM_001281453.2:c.300C>T, NM_001281453.2:c.300C>A, NM_001281453.1:c.300C>T, NM_001281453.1:c.300C>A, NM_001281454.2:c.204C>T, NM_001281454.2:c.204C>A, NM_001281454.1:c.204C>T, NM_001281454.1:c.204C>A, NM_003926.5:c.300C>T, NM_003926.5:c.300C>A, NM_003926.4:c.300C>T, NM_003926.4:c.300C>A, NM_003926.3:c.300C>T, NM_003926.3:c.300C>A, NM_003926.2:c.300C>T, NM_003926.2:c.300C>A, XM_047438939.1:c.300C>T, XM_047438939.1:c.300C>A, NM_003926.1:c.*1340G>A, NM_003926.1:c.*1340G>T

Select item 147321007013.

rs1473210070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:1581113 (GRCh38)
19:1581112 (GRCh37)
Canonical SPDI:: NC_000019.10:1581112:A:C
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1581113A>C, NC_000019.9:g.1581112A>C, NG_029897.2:g.16541T>G, NM_001281453.2:c.656T>G, NM_001281453.1:c.656T>G, NM_001281454.2:c.560T>G, NM_001281454.1:c.560T>G, NM_003926.5:c.656T>G, NM_003926.4:c.656T>G, NM_003926.3:c.656T>G, NM_003926.2:c.656T>G, XM_047438939.1:c.656T>G, NM_003926.1:c.*984A>C, NP_001268382.1:p.Met219Arg, NP_001268383.1:p.Met187Arg, XP_047294895.1:p.Met219Arg

Select item 146914870414.

rs1469148704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1584656 (GRCh38)
19:1584655 (GRCh37)
Canonical SPDI:: NC_000019.10:1584655:C:A
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1584656C>A, NC_000019.9:g.1584655C>A, NG_029897.2:g.12998G>T, NM_001281453.2:c.292G>T, NM_001281453.1:c.292G>T, NM_001281454.2:c.196G>T, NM_001281454.1:c.196G>T, NM_003926.5:c.292G>T, NM_003926.4:c.292G>T, NM_003926.3:c.292G>T, NM_003926.2:c.292G>T, XM_047438939.1:c.292G>T, NM_003926.1:c.*1348C>A, NP_001268382.1:p.Ala98Ser, NP_001268383.1:p.Ala66Ser, XP_047294895.1:p.Ala98Ser

Select item 146804857715.

rs1468048577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1578434 (GRCh38)
19:1578433 (GRCh37)
Canonical SPDI:: NC_000019.10:1578433:G:A
Gene:: MBD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000318/5 (TOMMO)
A=0.001371/4 (KOREAN)
HGVS:: NC_000019.10:g.1578434G>A, NC_000019.9:g.1578433G>A, NG_029897.2:g.19220C>T, NM_001281453.2:c.782C>T, NM_001281453.1:c.782C>T, NM_001281454.2:c.686C>T, NM_001281454.1:c.686C>T, NM_003926.5:c.782C>T, NM_003926.4:c.782C>T, NM_003926.3:c.782C>T, NM_003926.2:c.782C>T, XM_047438939.1:c.782C>T, NM_003926.1:c.*858G>A, NP_001268382.1:p.Pro261Leu, NP_001268383.1:p.Pro229Leu, XP_047294895.1:p.Pro261Leu

Select item 146768374816.

rs1467683748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1582687 (GRCh38)
19:1582686 (GRCh37)
Canonical SPDI:: NC_000019.10:1582686:C:A
Gene:: MBD3 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1582687C>A, NC_000019.9:g.1582686C>A, NG_029897.2:g.14967G>T, NM_001281453.2:c.434G>T, NM_001281453.1:c.434G>T, NM_001281454.2:c.338G>T, NM_001281454.1:c.338G>T, NM_003926.5:c.434G>T, NM_003926.4:c.434G>T, NM_003926.3:c.434G>T, NM_003926.2:c.434G>T, XM_047438939.1:c.434G>T, NM_003926.1:c.*1206C>A, NP_001268382.1:p.Gly145Val, NP_001268383.1:p.Gly113Val, XP_047294895.1:p.Gly145Val

Select item 146138050417.

rs1461380504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1585055 (GRCh38)
19:1585054 (GRCh37)
Canonical SPDI:: NC_000019.10:1585054:C:A,NC_000019.10:1585054:C:T
Gene:: MBD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1585055C>A, NC_000019.10:g.1585055C>T, NC_000019.9:g.1585054C>A, NC_000019.9:g.1585054C>T, NG_029897.2:g.12599G>T, NG_029897.2:g.12599G>A, NM_001281453.2:c.270G>T, NM_001281453.2:c.270G>A, NM_001281453.1:c.270G>T, NM_001281453.1:c.270G>A, NM_001281454.2:c.174G>T, NM_001281454.2:c.174G>A, NM_001281454.1:c.174G>T, NM_001281454.1:c.174G>A, NM_003926.5:c.270G>T, NM_003926.5:c.270G>A, NM_003926.4:c.270G>T, NM_003926.4:c.270G>A, NM_003926.3:c.270G>T, NM_003926.3:c.270G>A, NM_003926.2:c.270G>T, NM_003926.2:c.270G>A, XM_047438939.1:c.270G>T, XM_047438939.1:c.270G>A, NM_003926.1:c.*1370C>A, NM_003926.1:c.*1370C>T, NP_001268382.1:p.Lys90Asn, NP_001268383.1:p.Lys58Asn, XP_047294895.1:p.Lys90Asn

Select item 145823847618.

rs1458238476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:1582624 (GRCh38)
19:1582623 (GRCh37)
Canonical SPDI:: NC_000019.10:1582623:T:A
Gene:: MBD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1582624T>A, NC_000019.9:g.1582623T>A, NG_029897.2:g.15030A>T, NM_001281453.2:c.497A>T, NM_001281453.1:c.497A>T, NM_001281454.2:c.401A>T, NM_001281454.1:c.401A>T, NM_003926.5:c.497A>T, NM_003926.4:c.497A>T, NM_003926.3:c.497A>T, NM_003926.2:c.497A>T, XM_047438939.1:c.497A>T, NM_003926.1:c.*1143T>A, NP_001268382.1:p.Gln166Leu, NP_001268383.1:p.Gln134Leu, XP_047294895.1:p.Gln166Leu

Select item 145822390619.

rs1458223906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:1578374 (GRCh38)
19:1578373 (GRCh37)
Canonical SPDI:: NC_000019.10:1578373:T:G
Gene:: MBD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1578374T>G, NC_000019.9:g.1578373T>G, NG_029897.2:g.19280A>C, NM_001281453.2:c.842A>C, NM_001281453.1:c.842A>C, NM_001281454.2:c.746A>C, NM_001281454.1:c.746A>C, NM_003926.5:c.842A>C, NM_003926.4:c.842A>C, NM_003926.3:c.842A>C, NM_003926.2:c.842A>C, XM_047438939.1:c.842A>C, NM_003926.1:c.*798T>G, NP_001268382.1:p.Glu281Ala, NP_001268383.1:p.Glu249Ala, XP_047294895.1:p.Glu281Ala

Select item 145567605420.

rs1455676054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1585211 (GRCh38)
19:1585210 (GRCh37)
Canonical SPDI:: NC_000019.10:1585210:C:T
Gene:: MBD3 (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)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1585211C>T, NC_000019.9:g.1585210C>T, NG_029897.2:g.12443G>A, NM_001281453.2:c.114G>A, NM_001281453.1:c.114G>A, NM_001281454.2:c.18G>A, NM_001281454.1:c.18G>A, NM_003926.5:c.114G>A, NM_003926.4:c.114G>A, NM_003926.3:c.114G>A, NM_003926.2:c.114G>A, XM_047438939.1:c.114G>A, NM_003926.1:c.*1526C>T

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