SNP Links for Gene (Select 81786) - SNP

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Select item 14914239961.

rs1491423996 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 5:181202822 (GRCh38)
5:180629822 (GRCh37)
Canonical SPDI:: NC_000005.10:181202820:CCC:C
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.181202822_181202823del, NC_000005.9:g.180629822_180629823del, NG_029535.1:g.7356_7357del, XR_001743050.3:n.1177_1178del, XR_001743050.2:n.3379_3380del, XR_001743050.1:n.3379_3380del

Select item 14914165812.

rs1491416581 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:181207442 (GRCh38)
5:180634442 (GRCh37)
Canonical SPDI:: NC_000005.10:181207441:TC:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.181207442_181207443del, NC_000005.9:g.180634442_180634443del, NG_029535.1:g.2735_2736del

Select item 14911021003.

rs1491102100 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 5:181207442 (GRCh38)
5:180634443 (GRCh37)
Canonical SPDI:: NC_000005.10:181207442::A,NC_000005.10:181207442::AA
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00015/10 (GnomAD)
A=0.00064/18 (TOMMO)
HGVS:: NC_000005.10:g.181207442_181207443insA, NC_000005.10:g.181207442_181207443insAA, NC_000005.9:g.180634442_180634443insA, NC_000005.9:g.180634442_180634443insAA, NG_029535.1:g.2735_2736insT, NG_029535.1:g.2735_2736insTT

Select item 14910304114.

rs1491030411 has merged into rs5873730 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 5:181205751 (GRCh38)
5:180632751 (GRCh37)
Canonical SPDI:: NC_000005.10:181205744:CCCCCCCC:CCCCCC,NC_000005.10:181205744:CCCCCCCC:CCCCCCC,NC_000005.10:181205744:CCCCCCCC:CCCCCCCCC,NC_000005.10:181205744:CCCCCCCC:CCCCCCCCCC
Gene:: TRIM7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
-=0.19013/705 (TWINSUK)
-=0.19875/766 (ALSPAC)
-=0.2/8 (GENOME_DK)
-=0.20005/881 (Estonian)
-=0.24108/1149 (1000Genomes)
HGVS:: NC_000005.10:g.181205751_181205752del, NC_000005.10:g.181205752del, NC_000005.10:g.181205752dup, NC_000005.10:g.181205751_181205752dup, NC_000005.9:g.180632751_180632752del, NC_000005.9:g.180632752del, NC_000005.9:g.180632752dup, NC_000005.9:g.180632751_180632752dup, NG_029535.1:g.4432_4433del, NG_029535.1:g.4433del, NG_029535.1:g.4433dup, NG_029535.1:g.4432_4433dup

Select item 14909779135.

rs1490977913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181202977 (GRCh38)
5:180629977 (GRCh37)
Canonical SPDI:: NC_000005.10:181202976:C:T
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_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_000005.10:g.181202977C>T, NC_000005.9:g.180629977C>T, NG_029535.1:g.7201G>A, XR_001743050.3:n.1332C>T, XR_001743050.2:n.3534C>T, XR_001743050.1:n.3534C>T

Select item 14907358316.

rs1490735831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:181199728 (GRCh38)
5:180626728 (GRCh37)
Canonical SPDI:: NC_000005.10:181199727:C:G
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_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_000005.10:g.181199728C>G, NC_000005.9:g.180626728C>G, NG_029535.1:g.10450G>C

Select item 14904836137.

rs1490483613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:181203893 (GRCh38)
5:180630893 (GRCh37)
Canonical SPDI:: NC_000005.10:181203892:T:C
Gene:: TRIM7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.181203893T>C, NC_000005.9:g.180630893T>C, NG_029535.1:g.6285A>G, NM_203296.2:c.-251A>G, NM_203296.1:c.-251A>G

Select item 14904354728.

rs1490435472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181205109 (GRCh38)
5:180632109 (GRCh37)
Canonical SPDI:: NC_000005.10:181205108:A:G
Gene:: TRIM7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,initiator_codon_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.181205109A>G, NC_000005.9:g.180632109A>G, NG_029535.1:g.5069T>C, NM_033342.4:c.2T>C, NM_033342.3:c.2T>C, NM_203293.3:c.2T>C, NM_203293.2:c.2T>C, XM_017009904.3:c.2T>C, XM_017009904.2:c.2T>C, XM_017009904.1:c.2T>C, NP_203128.1:p.Met1Thr, NP_976038.1:p.Met1Thr, XP_016865393.1:p.Met1Thr

Select item 14904281739.

rs1490428173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:181206935 (GRCh38)
5:180633935 (GRCh37)
Canonical SPDI:: NC_000005.10:181206934:C:A,NC_000005.10:181206934:C:T
Gene:: TRIM7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00034/1 (KOREAN)
HGVS:: NC_000005.10:g.181206935C>A, NC_000005.10:g.181206935C>T, NC_000005.9:g.180633935C>A, NC_000005.9:g.180633935C>T, NG_029535.1:g.3243G>T, NG_029535.1:g.3243G>A

Select item 149024565610.

rs1490245656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:181199308 (GRCh38)
5:180626308 (GRCh37)
Canonical SPDI:: NC_000005.10:181199307:G:A,NC_000005.10:181199307:G:C
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.181199308G>A, NC_000005.10:g.181199308G>C, NC_000005.9:g.180626308G>A, NC_000005.9:g.180626308G>C, NG_029535.1:g.10870C>T, NG_029535.1:g.10870C>G

Select item 148987131811.

rs1489871318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181206032 (GRCh38)
5:180633032 (GRCh37)
Canonical SPDI:: NC_000005.10:181206031:C:T
Gene:: TRIM7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.181206032C>T, NC_000005.9:g.180633032C>T, NG_029535.1:g.4146G>A

Select item 148940562412.

rs1489405624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:181201612 (GRCh38)
5:180628612 (GRCh37)
Canonical SPDI:: NC_000005.10:181201611:T:A
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.181201612T>A, NC_000005.9:g.180628612T>A, NG_029535.1:g.8566A>T

Select item 148928289313.

rs1489282893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:181198705 (GRCh38)
5:180625705 (GRCh37)
Canonical SPDI:: NC_000005.10:181198704:G:A
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_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_000005.10:g.181198705G>A, NC_000005.9:g.180625705G>A, NG_029535.1:g.11473C>T, NM_203293.3:c.973C>T, NM_203293.2:c.973C>T, NM_203297.2:c.427C>T, NM_203297.1:c.427C>T, NM_203296.2:c.349C>T, NM_203296.1:c.349C>T, NM_203295.2:c.349C>T, NM_203295.1:c.349C>T, NM_203294.2:c.349C>T, NM_203294.1:c.349C>T

Select item 148920247614.

rs1489202476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:181197755 (GRCh38)
5:180624755 (GRCh37)
Canonical SPDI:: NC_000005.10:181197754:G:A
Gene:: TRIM7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.181197755G>A, NC_000005.9:g.180624755G>A, NG_029535.1:g.12423C>T

Select item 148865779115.

rs1488657791 [Homo sapiens]

Variant type:: DEL
Alleles:: GGAG>- [Show Flanks]
Chromosome:: 5:181202202 (GRCh38)
5:180629202 (GRCh37)
Canonical SPDI:: NC_000005.10:181202201:GGAG:
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0025/11 (ALFA)
-=0.0025/11 (Estonian)
HGVS:: NC_000005.10:g.181202202_181202205del, NC_000005.9:g.180629202_180629205del, NG_029535.1:g.7973_7976del

Select item 148843612116.

rs1488436121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:181194686 (GRCh38)
5:180621686 (GRCh37)
Canonical SPDI:: NC_000005.10:181194685:G:C
Gene:: TRIM7 (Varview), TRIM7-AS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.181194686G>C, NC_000005.9:g.180621686G>C, NG_029535.1:g.15492C>G, NM_203293.3:c.*480C>G, NM_203293.2:c.*480C>G, NM_203297.2:c.*480C>G, NM_203297.1:c.*480C>G, NM_203296.2:c.*480C>G, NM_203296.1:c.*480C>G, NM_203295.2:c.*480C>G, NM_203295.1:c.*480C>G, NM_203294.2:c.*480C>G, NM_203294.1:c.*480C>G

Select item 148820901017.

rs1488209010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:181207003 (GRCh38)
5:180634003 (GRCh37)
Canonical SPDI:: NC_000005.10:181207002:T:A
Gene:: TRIM7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.181207003T>A, NC_000005.9:g.180634003T>A, NG_029535.1:g.3175A>T

Select item 148809863718.

rs1488098637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:181204900 (GRCh38)
5:180631900 (GRCh37)
Canonical SPDI:: NC_000005.10:181204899:C:G
Gene:: TRIM7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.181204900C>G, NC_000005.9:g.180631900C>G, NG_029535.1:g.5278G>C, NM_033342.4:c.211G>C, NM_033342.3:c.211G>C, NM_203293.3:c.211G>C, NM_203293.2:c.211G>C, XM_017009904.3:c.211G>C, XM_017009904.2:c.211G>C, XM_017009904.1:c.211G>C, NP_203128.1:p.Ala71Pro, NP_976038.1:p.Ala71Pro, XP_016865393.1:p.Ala71Pro

Select item 148772476019.

rs1487724760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:181207173 (GRCh38)
5:180634173 (GRCh37)
Canonical SPDI:: NC_000005.10:181207172:G:T
Gene:: TRIM7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.181207173G>T, NC_000005.9:g.180634173G>T, NG_029535.1:g.3005C>A

Select item 148761809820.

rs1487618098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181201037 (GRCh38)
5:180628037 (GRCh37)
Canonical SPDI:: NC_000005.10:181201036:C:T
Gene:: TRIM7 (Varview), TRIM7-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.181201037C>T, NC_000005.9:g.180628037C>T, NG_029535.1:g.9141G>A

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