SNP Links for Gene (Select 2633) - SNP

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Select item 14906545841.

rs1490654584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89053534 (GRCh38)
1:89519217 (GRCh37)
Canonical SPDI:: NC_000001.11:89053533:T:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89053534T>C, NC_000001.10:g.89519217T>C

Select item 14906300022.

rs1490630002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89067289 (GRCh38)
1:89532972 (GRCh37)
Canonical SPDI:: NC_000001.11:89067288:T:C
Gene:: LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89067289T>C, NC_000001.10:g.89532972T>C

Select item 14905364283.

rs1490536428 has merged into rs368080478 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:89052450 (GRCh38)
1:89518133 (GRCh37)
Canonical SPDI:: NC_000001.11:89052449:AAAAAAAA:AAAAAAA,NC_000001.11:89052449:AAAAAAAA:AAAAAAAAA
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.00027/5 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.89052457del, NC_000001.11:g.89052457dup, NC_000001.10:g.89518140del, NC_000001.10:g.89518140dup, NM_002053.3:c.*905del, NM_002053.3:c.*905dup, NM_002053.2:c.*905del, NM_002053.2:c.*905dup

Select item 14904556764.

rs1490455676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:89056597 (GRCh38)
1:89522280 (GRCh37)
Canonical SPDI:: NC_000001.11:89056596:A:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89056597A>C, NC_000001.10:g.89522280A>C, NG_082108.1:g.555A>C

Select item 14903990025.

rs1490399002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:89061019 (GRCh38)
1:89526702 (GRCh37)
Canonical SPDI:: NC_000001.11:89061018:C:G,NC_000001.11:89061018:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.89061019C>G, NC_000001.11:g.89061019C>T, NC_000001.10:g.89526702C>G, NC_000001.10:g.89526702C>T

Select item 14902764046.

rs1490276404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:89067339 (GRCh38)
1:89533022 (GRCh37)
Canonical SPDI:: NC_000001.11:89067338:A:T
Gene:: LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89067339A>T, NC_000001.10:g.89533022A>T

Select item 14901922187.

rs1490192218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89052585 (GRCh38)
1:89518268 (GRCh37)
Canonical SPDI:: NC_000001.11:89052584:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89052585C>T, NC_000001.10:g.89518268C>T, NM_002053.3:c.*770G>A, NM_002053.2:c.*770G>A

Select item 14900915128.

rs1490091512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:89052526 (GRCh38)
1:89518209 (GRCh37)
Canonical SPDI:: NC_000001.11:89052525:T:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89052526T>G, NC_000001.10:g.89518209T>G, NM_002053.3:c.*829A>C, NM_002053.2:c.*829A>C

Select item 14900904199.

rs1490090419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:89059112 (GRCh38)
1:89524795 (GRCh37)
Canonical SPDI:: NC_000001.11:89059111:C:A,NC_000001.11:89059111:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.89059112C>A, NC_000001.11:g.89059112C>T, NC_000001.10:g.89524795C>A, NC_000001.10:g.89524795C>T

Select item 149006513410.

rs1490065134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89060095 (GRCh38)
1:89525778 (GRCh37)
Canonical SPDI:: NC_000001.11:89060094:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.89060095C>T, NC_000001.10:g.89525778C>T

Select item 148991409611.

rs1489914096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:89053766 (GRCh38)
1:89519449 (GRCh37)
Canonical SPDI:: NC_000001.11:89053765:G:A,NC_000001.11:89053765:G:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.89053766G>A, NC_000001.11:g.89053766G>T, NC_000001.10:g.89519449G>A, NC_000001.10:g.89519449G>T

Select item 148990271112.

rs1489902711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:89060532 (GRCh38)
1:89526215 (GRCh37)
Canonical SPDI:: NC_000001.11:89060531:A:C,NC_000001.11:89060531:A:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.89060532A>C, NC_000001.11:g.89060532A>G, NC_000001.10:g.89526215A>C, NC_000001.10:g.89526215A>G

Select item 148940595413.

rs1489405954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:89058519 (GRCh38)
1:89524202 (GRCh37)
Canonical SPDI:: NC_000001.11:89058518:T:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.89058519T>G, NC_000001.10:g.89524202T>G

Select item 148937032014.

rs1489370320 has merged into rs1047924797 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:89054112 (GRCh38)
1:89519795 (GRCh37)
Canonical SPDI:: NC_000001.11:89054111:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:89054111:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000933/247 (TOPMED)
HGVS:: NC_000001.11:g.89054122del, NC_000001.11:g.89054122dup, NC_000001.10:g.89519805del, NC_000001.10:g.89519805dup

Select item 148923000415.

rs1489230004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:89061005 (GRCh38)
1:89526688 (GRCh37)
Canonical SPDI:: NC_000001.11:89061004:G:A
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89061005G>A, NC_000001.10:g.89526688G>A

Select item 148890120516.

rs1488901205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:89062059 (GRCh38)
1:89527742 (GRCh37)
Canonical SPDI:: NC_000001.11:89062058:G:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89062059G>C, NC_000001.10:g.89527742G>C

Select item 148882432517.

rs1488824325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89059788 (GRCh38)
1:89525471 (GRCh37)
Canonical SPDI:: NC_000001.11:89059787:T:C
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.89059788T>C, NC_000001.10:g.89525471T>C

Select item 148878973718.

rs1488789737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89061349 (GRCh38)
1:89527032 (GRCh37)
Canonical SPDI:: NC_000001.11:89061348:C:T
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.89061349C>T, NC_000001.10:g.89527032C>T

Select item 148856223619.

rs1488562236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89052330 (GRCh38)
1:89518013 (GRCh37)
Canonical SPDI:: NC_000001.11:89052329:A:G
Gene:: GBP1 (Varview), LOC105378841 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.89052330A>G, NC_000001.10:g.89518013A>G, NM_002053.3:c.*1025T>C, NM_002053.2:c.*1025T>C

Select item 148814472820.

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

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