SNP Links for Protein (Select 166706903) - SNP

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Links from Protein

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Select item 14881447281.

rs1488144728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89054812 (GRCh38)
1:89520495 (GRCh37)
Canonical SPDI:: NC_000001.11:89054811:T:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89054812T>C, NC_000001.10:g.89520495T>C, NM_002053.3:c.1535A>G, NM_002053.2:c.1535A>G, NP_002044.2:p.Lys512Arg

Select item 14830365202.

rs1483036520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:89057134 (GRCh38)
1:89522817 (GRCh37)
Canonical SPDI:: NC_000001.11:89057133:C:A
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89057134C>A, NC_000001.10:g.89522817C>A, NG_082108.1:g.1092C>A, NM_002053.3:c.875G>T, NM_002053.2:c.875G>T, NP_002044.2:p.Arg292Leu

Select item 14764870333.

rs1476487033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89056031 (GRCh38)
1:89521714 (GRCh37)
Canonical SPDI:: NC_000001.11:89056030:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.89056031C>T, NC_000001.10:g.89521714C>T, NM_002053.3:c.1353G>A, NM_002053.2:c.1353G>A

Select item 14730953124.

rs1473095312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:89053425 (GRCh38)
1:89519108 (GRCh37)
Canonical SPDI:: NC_000001.11:89053424:C:A,NC_000001.11:89053424:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.89053425C>A, NC_000001.11:g.89053425C>T, NC_000001.10:g.89519108C>A, NC_000001.10:g.89519108C>T, NM_002053.3:c.1709G>T, NM_002053.3:c.1709G>A, NM_002053.2:c.1709G>T, NM_002053.2:c.1709G>A, NP_002044.2:p.Arg570Ile, NP_002044.2:p.Arg570Lys

Select item 14717857685.

rs1471785768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:89058074 (GRCh38)
1:89523757 (GRCh37)
Canonical SPDI:: NC_000001.11:89058073:T:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89058074T>G, NC_000001.10:g.89523757T>G, NM_002053.3:c.792A>C, NM_002053.2:c.792A>C, NP_002044.2:p.Gln264His

Select item 14711408166.

rs1471140816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89056205 (GRCh38)
1:89521888 (GRCh37)
Canonical SPDI:: NC_000001.11:89056204:A:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89056205A>G, NC_000001.10:g.89521888A>G, NG_082108.1:g.163A>G, NM_002053.3:c.1179T>C, NM_002053.2:c.1179T>C

Select item 14678824637.

rs1467882463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:89063106 (GRCh38)
1:89528789 (GRCh37)
Canonical SPDI:: NC_000001.11:89063105:A:C,NC_000001.11:89063105:A:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.89063106A>C, NC_000001.11:g.89063106A>G, NC_000001.10:g.89528789A>C, NC_000001.10:g.89528789A>G, NM_002053.3:c.129T>G, NM_002053.3:c.129T>C, NM_002053.2:c.129T>G, NM_002053.2:c.129T>C, NP_002044.2:p.Ile43Met

Select item 14647388448.

rs1464738844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89059408 (GRCh38)
1:89525091 (GRCh37)
Canonical SPDI:: NC_000001.11:89059407:A:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.89059408A>G, NC_000001.10:g.89525091A>G, NM_002053.3:c.337T>C, NM_002053.2:c.337T>C, NP_002044.2:p.Ser113Pro

Select item 14639617059.

rs1463961705 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:89056109 (GRCh38)
1:89521793 (GRCh37)
Canonical SPDI:: NC_000001.11:89056109::A
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.89056109_89056110insA, NC_000001.10:g.89521792_89521793insA, NG_082108.1:g.67_68insA, NM_002053.3:c.1274_1275insT, NM_002053.2:c.1274_1275insT, NP_002044.2:p.Ile426fs

Select item 146234849810.

rs1462348498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:89055147 (GRCh38)
1:89520830 (GRCh37)
Canonical SPDI:: NC_000001.11:89055146:G:C,NC_000001.11:89055146:G:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
T=0.000177/3 (TOMMO)
HGVS:: NC_000001.11:g.89055147G>C, NC_000001.11:g.89055147G>T, NC_000001.10:g.89520830G>C, NC_000001.10:g.89520830G>T, NM_002053.3:c.1437C>G, NM_002053.3:c.1437C>A, NM_002053.2:c.1437C>G, NM_002053.2:c.1437C>A, NP_002044.2:p.Asp479Glu, NP_002044.2:p.Asp479Glu

Select item 146204825711.

rs1462048257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89053446 (GRCh38)
1:89519129 (GRCh37)
Canonical SPDI:: NC_000001.11:89053445:T:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89053446T>C, NC_000001.10:g.89519129T>C, NM_002053.3:c.1688A>G, NM_002053.2:c.1688A>G, NP_002044.2:p.Glu563Gly

Select item 146190310612.

rs1461903106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:89056176 (GRCh38)
1:89521859 (GRCh37)
Canonical SPDI:: NC_000001.11:89056175:G:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89056176G>T, NC_000001.10:g.89521859G>T, NG_082108.1:g.134G>T, NM_002053.3:c.1208C>A, NM_002053.2:c.1208C>A, NP_002044.2:p.Ser403Ter

Select item 146048494013.

rs1460484940 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:89054841 (GRCh38)
1:89520524 (GRCh37)
Canonical SPDI:: NC_000001.11:89054840:T:
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89054841del, NC_000001.10:g.89520524del, NM_002053.3:c.1506del, NM_002053.2:c.1506del, NP_002044.2:p.Ala503fs

Select item 145832739014.

rs1458327390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89059419 (GRCh38)
1:89525102 (GRCh37)
Canonical SPDI:: NC_000001.11:89059418:T:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89059419T>C, NC_000001.10:g.89525102T>C, NM_002053.3:c.326A>G, NM_002053.2:c.326A>G, NP_002044.2:p.Asn109Ser

Select item 145813076315.

rs1458130763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:89059000 (GRCh38)
1:89524683 (GRCh37)
Canonical SPDI:: NC_000001.11:89058999:G:A
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.89059000G>A, NC_000001.10:g.89524683G>A, NM_002053.3:c.472C>T, NM_002053.2:c.472C>T, NP_002044.2:p.Pro158Ser

Select item 145790590016.

rs1457905900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:89058909 (GRCh38)
1:89524592 (GRCh37)
Canonical SPDI:: NC_000001.11:89058908:T:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89058909T>G, NC_000001.10:g.89524592T>G, NM_002053.3:c.563A>C, NM_002053.2:c.563A>C, NP_002044.2:p.Asp188Ala

Select item 145685976917.

rs1456859769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:89057012 (GRCh38)
1:89522695 (GRCh37)
Canonical SPDI:: NC_000001.11:89057011:C:A
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89057012C>A, NC_000001.10:g.89522695C>A, NG_082108.1:g.970C>A, NM_002053.3:c.997G>T, NM_002053.2:c.997G>T, NP_002044.2:p.Ala333Ser

Select item 145680739218.

rs1456807392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89056197 (GRCh38)
1:89521880 (GRCh37)
Canonical SPDI:: NC_000001.11:89056196:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.89056197C>T, NC_000001.10:g.89521880C>T, NG_082108.1:g.155C>T, NM_002053.3:c.1187G>A, NM_002053.2:c.1187G>A, NP_002044.2:p.Cys396Tyr

Select item 145568581519.

rs1455685815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:89056976 (GRCh38)
1:89522659 (GRCh37)
Canonical SPDI:: NC_000001.11:89056975:G:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_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_000001.11:g.89056976G>C, NC_000001.10:g.89522659G>C, NG_082108.1:g.934G>C, NM_002053.3:c.1033C>G, NM_002053.2:c.1033C>G, NP_002044.2:p.Leu345Val

Select item 145539222220.

rs1455392222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:89056079 (GRCh38)
1:89521762 (GRCh37)
Canonical SPDI:: NC_000001.11:89056078:G:A
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.89056079G>A, NC_000001.10:g.89521762G>A, NG_082108.1:g.37G>A, NM_002053.3:c.1305C>T, NM_002053.2:c.1305C>T

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