SNP Links for Protein (Select 103485137) - SNP

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Links from Protein

Items: 1 to 20 of 55

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Select item 14871965051.

rs1487196505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7470401 (GRCh38)
8:7327923 (GRCh37)
Canonical SPDI:: NC_000008.11:7470400:A:G
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7470401A>G, NC_000008.10:g.7327923A>G, NW_018654717.1:g.5438443T>C, NT_187570.1:g.153510A>G, NM_080389.2:c.174T>C, NM_080389.3:c.174T>C, NM_001040702.1:c.174T>C

Select item 14768770312.

rs1476877031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7475061 (GRCh38)
8:7332583 (GRCh37)
Canonical SPDI:: NC_000008.11:7475060:C:T
Gene:: DEFB104B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.7475061C>T, NC_000008.10:g.7332583C>T, NW_018654717.1:g.5433785G>A, NT_187570.1:g.158171C>T, NM_080389.2:c.8G>A, NM_080389.3:c.8G>A, NM_001040702.1:c.8G>A, NP_001035792.1:p.Arg3Lys

Select item 14735607553.

rs1473560755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:7470362 (GRCh38)
8:7327884 (GRCh37)
Canonical SPDI:: NC_000008.11:7470361:T:G
Gene:: DEFB104B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00025/4 (TOMMO)
HGVS:: NC_000008.11:g.7470362T>G, NC_000008.10:g.7327884T>G, NW_018654717.1:g.5438482A>C, NT_187570.1:g.153471T>G, NM_080389.2:c.213A>C, NM_080389.3:c.213A>C, NM_001040702.1:c.213A>C, NP_001035792.1:p.Lys71Asn

Select item 14599394774.

rs1459939477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7475019 (GRCh38)
8:7332541 (GRCh37)
Canonical SPDI:: NC_000008.11:7475018:T:C
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.7475019T>C, NC_000008.10:g.7332541T>C, NW_018654717.1:g.5433827A>G, NT_187570.1:g.158129T>C, NM_080389.2:c.50A>G, NM_080389.3:c.50A>G, NM_001040702.1:c.50A>G, NP_001035792.1:p.Asp17Gly

Select item 14581100205.

rs1458110020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:7475065 (GRCh38)
8:7332587 (GRCh37)
Canonical SPDI:: NC_000008.11:7475064:G:T
Gene:: DEFB104B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7475065G>T, NC_000008.10:g.7332587G>T, NW_018654717.1:g.5433781C>A, NT_187570.1:g.158175G>T, NM_080389.2:c.4C>A, NM_080389.3:c.4C>A, NM_001040702.1:c.4C>A, NP_001035792.1:p.Gln2Lys

Select item 14561911096.

rs1456191109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7475048 (GRCh38)
8:7332570 (GRCh37)
Canonical SPDI:: NC_000008.11:7475047:T:C
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7475048T>C, NC_000008.10:g.7332570T>C, NW_018654717.1:g.5433798A>G, NT_187570.1:g.158158T>C, NM_080389.2:c.21A>G, NM_080389.3:c.21A>G, NM_001040702.1:c.21A>G

Select item 14496051637.

rs1449605163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7470398 (GRCh38)
8:7327920 (GRCh37)
Canonical SPDI:: NC_000008.11:7470397:C:G
Gene:: DEFB104B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.0005/8 (TOMMO)
HGVS:: NC_000008.11:g.7470398C>G, NC_000008.10:g.7327920C>G, NW_018654717.1:g.5438446G>C, NT_187570.1:g.153507C>G, NM_080389.2:c.177G>C, NM_080389.3:c.177G>C, NM_001040702.1:c.177G>C, NP_001035792.1:p.Leu59Phe

Select item 14476154378.

rs1447615437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7475027 (GRCh38)
8:7332549 (GRCh37)
Canonical SPDI:: NC_000008.11:7475026:G:A
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000057/5 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7475027G>A, NC_000008.10:g.7332549G>A, NW_018654717.1:g.5433819C>T, NT_187570.1:g.158137G>A, NM_080389.2:c.42C>T, NM_080389.3:c.42C>T, NM_001040702.1:c.42C>T

Select item 14461018599.

rs1446101859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7470409 (GRCh38)
8:7327931 (GRCh37)
Canonical SPDI:: NC_000008.11:7470408:C:T
Gene:: DEFB104B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7470409C>T, NC_000008.10:g.7327931C>T, NW_018654717.1:g.5438435G>A, NT_187570.1:g.153518C>T, NM_080389.2:c.166G>A, NM_080389.3:c.166G>A, NM_001040702.1:c.166G>A, NP_001035792.1:p.Ala56Thr

Select item 143477722210.

rs1434777222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7470417 (GRCh38)
8:7327939 (GRCh37)
Canonical SPDI:: NC_000008.11:7470416:T:C
Gene:: DEFB104B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.7470417T>C, NC_000008.10:g.7327939T>C, NW_018654717.1:g.5438427A>G, NT_187570.1:g.153526T>C, NM_080389.2:c.158A>G, NM_080389.3:c.158A>G, NM_001040702.1:c.158A>G, NP_001035792.1:p.Asn53Ser

Select item 142979598311.

rs1429795983 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:7470488 (GRCh38)
8:7328011 (GRCh37)
Canonical SPDI:: NC_000008.11:7470488:A:AA
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000008.11:g.7470489dup, NC_000008.10:g.7328011dup, NW_018654717.1:g.5438355dup, NT_187570.1:g.153598dup, NM_080389.2:c.86dup, NM_080389.3:c.86dup, NM_001040702.1:c.86dup, NP_001035792.1:p.Cys30fs

Select item 141997539512.

rs1419975395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7470442 (GRCh38)
8:7327964 (GRCh37)
Canonical SPDI:: NC_000008.11:7470441:C:G
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00023/5 (GnomAD_exomes)
G=0.00028/3 (GnomAD)
HGVS:: NC_000008.11:g.7470442C>G, NC_000008.10:g.7327964C>G, NW_018654717.1:g.5438402G>C, NT_187570.1:g.153551C>G, NM_080389.2:c.133G>C, NM_080389.3:c.133G>C, NM_001040702.1:c.133G>C, NP_001035792.1:p.Glu45Gln

Select item 141829221913.

rs1418292219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7470463 (GRCh38)
8:7327985 (GRCh37)
Canonical SPDI:: NC_000008.11:7470462:G:A
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/1 (GnomAD_exomes)
A=0.00005/1 (TOMMO)
HGVS:: NC_000008.11:g.7470463G>A, NC_000008.10:g.7327985G>A, NW_018654717.1:g.5438381C>T, NT_187570.1:g.153572G>A, NM_080389.2:c.112C>T, NM_080389.3:c.112C>T, NM_001040702.1:c.112C>T, NP_001035792.1:p.Arg38Trp

Select item 139871732014.

rs1398717320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:7470363 (GRCh38)
8:7327885 (GRCh37)
Canonical SPDI:: NC_000008.11:7470362:T:A
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.7470363T>A, NC_000008.10:g.7327885T>A, NW_018654717.1:g.5438481A>T, NT_187570.1:g.153472T>A, NM_080389.2:c.212A>T, NM_080389.3:c.212A>T, NM_001040702.1:c.212A>T, NP_001035792.1:p.Lys71Ile

Select item 139433394615.

rs1394333946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7475024 (GRCh38)
8:7332546 (GRCh37)
Canonical SPDI:: NC_000008.11:7475023:A:G
Gene:: DEFB104B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7475024A>G, NC_000008.10:g.7332546A>G, NW_018654717.1:g.5433822T>C, NT_187570.1:g.158134A>G, NM_080389.2:c.45T>C, NM_080389.3:c.45T>C, NM_001040702.1:c.45T>C

Select item 139320236116.

rs1393202361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7470374 (GRCh38)
8:7327896 (GRCh37)
Canonical SPDI:: NC_000008.11:7470373:C:T
Gene:: DEFB104B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7470374C>T, NC_000008.10:g.7327896C>T, NW_018654717.1:g.5438470G>A, NT_187570.1:g.153483C>T, NM_080389.2:c.201G>A, NM_080389.3:c.201G>A, NM_001040702.1:c.201G>A

Select item 139080357917.

rs1390803579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7475042 (GRCh38)
8:7332564 (GRCh37)
Canonical SPDI:: NC_000008.11:7475041:G:A
Gene:: DEFB104B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7475042G>A, NC_000008.10:g.7332564G>A, NW_018654717.1:g.5433804C>T, NT_187570.1:g.158152G>A, NM_080389.2:c.27C>T, NM_080389.3:c.27C>T, NM_001040702.1:c.27C>T

Select item 138964658818.

rs1389646588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7470357 (GRCh38)
8:7327879 (GRCh37)
Canonical SPDI:: NC_000008.11:7470356:C:T
Gene:: DEFB104B (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.7470357C>T, NC_000008.10:g.7327879C>T, NW_018654717.1:g.5438487G>A, NT_187570.1:g.153466C>T, NM_080389.2:c.218G>A, NM_080389.3:c.218G>A, NM_001040702.1:c.218G>A

Select item 138902291119.

rs1389022911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:7470471 (GRCh38)
8:7327993 (GRCh37)
Canonical SPDI:: NC_000008.11:7470470:G:T
Gene:: DEFB104B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.00005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7470471G>T, NC_000008.10:g.7327993G>T, NW_018654717.1:g.5438373C>A, NT_187570.1:g.153580G>T, NM_080389.2:c.104C>A, NM_080389.3:c.104C>A, NM_001040702.1:c.104C>A, NP_001035792.1:p.Ala35Asp

Select item 138402314920.

rs1384023149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:7470369 (GRCh38)
8:7327891 (GRCh37)
Canonical SPDI:: NC_000008.11:7470368:C:A,NC_000008.11:7470368:C:T
Gene:: DEFB104B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.7470369C>A, NC_000008.11:g.7470369C>T, NC_000008.10:g.7327891C>A, NC_000008.10:g.7327891C>T, NW_018654717.1:g.5438475G>T, NW_018654717.1:g.5438475G>A, NT_187570.1:g.153478C>A, NT_187570.1:g.153478C>T, NM_080389.2:c.206G>T, NM_080389.2:c.206G>A, NM_080389.3:c.206G>T, NM_080389.3:c.206G>A, NM_001040702.1:c.206G>T, NM_001040702.1:c.206G>A, NP_001035792.1:p.Arg69Leu, NP_001035792.1:p.Arg69His

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