SNP Links for Gene (Select 79097) - SNP

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Items: 1 to 20 of 4121

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Select item 14908275161.

rs1490827516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:55262557 (GRCh38)
11:55030033 (GRCh37)
Canonical SPDI:: NC_000011.10:55262556:A:G
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.55262557A>G, NC_000011.9:g.55030033A>G

Select item 14908022482.

rs1490802248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:55263158 (GRCh38)
11:55030634 (GRCh37)
Canonical SPDI:: NC_000011.10:55263157:T:C
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.55263158T>C, NC_000011.9:g.55030634T>C

Select item 14906562493.

rs1490656249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:55270930 (GRCh38)
11:55038406 (GRCh37)
Canonical SPDI:: NC_000011.10:55270929:C:T
Gene:: TRIM48 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.55270930C>T, NC_000011.9:g.55038406C>T, NM_024114.5:c.*495C>T, NM_024114.4:c.*495C>T, NM_024114.3:c.*495C>T

Select item 14905723834.

rs1490572383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:55261800 (GRCh38)
11:55029276 (GRCh37)
Canonical SPDI:: NC_000011.10:55261799:G:A
Gene:: TRIM48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.55261800G>A, NC_000011.9:g.55029276G>A

Select item 14904500445.

rs1490450044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:55266613 (GRCh38)
11:55034089 (GRCh37)
Canonical SPDI:: NC_000011.10:55266612:G:T
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.55266613G>T, NC_000011.9:g.55034089G>T

Select item 14898841216.

rs1489884121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:55264644 (GRCh38)
11:55032120 (GRCh37)
Canonical SPDI:: NC_000011.10:55264643:A:T
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.55264644A>T, NC_000011.9:g.55032120A>T

Select item 14897111047.

rs1489711104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:55261537 (GRCh38)
11:55029013 (GRCh37)
Canonical SPDI:: NC_000011.10:55261536:T:C
Gene:: TRIM48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.55261537T>C, NC_000011.9:g.55029013T>C

Select item 14896604648.

rs1489660464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:55262082 (GRCh38)
11:55029558 (GRCh37)
Canonical SPDI:: NC_000011.10:55262081:A:G
Gene:: TRIM48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.55262082A>G, NC_000011.9:g.55029558A>G

Select item 14893470139.

rs1489347013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:55263627 (GRCh38)
11:55031103 (GRCh37)
Canonical SPDI:: NC_000011.10:55263626:A:C
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000011.10:g.55263627A>C, NC_000011.9:g.55031103A>C

Select item 148933411710.

rs1489334117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:55261855 (GRCh38)
11:55029331 (GRCh37)
Canonical SPDI:: NC_000011.10:55261854:A:C
Gene:: TRIM48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.55261855A>C, NC_000011.9:g.55029331A>C

Select item 148927651511.

rs1489276515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:55262501 (GRCh38)
11:55029977 (GRCh37)
Canonical SPDI:: NC_000011.10:55262500:T:A,NC_000011.10:55262500:T:G
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.55262501T>A, NC_000011.10:g.55262501T>G, NC_000011.9:g.55029977T>A, NC_000011.9:g.55029977T>G

Select item 148893366412.

rs1488933664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:55261206 (GRCh38)
11:55028682 (GRCh37)
Canonical SPDI:: NC_000011.10:55261205:G:A
Gene:: TRIM48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.55261206G>A, NC_000011.9:g.55028682G>A

Select item 148889441613.

rs1488894416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:55269910 (GRCh38)
11:55037386 (GRCh37)
Canonical SPDI:: NC_000011.10:55269909:T:G
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.55269910T>G, NC_000011.9:g.55037386T>G

Select item 148888815414.

rs1488888154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:55265124 (GRCh38)
11:55032600 (GRCh37)
Canonical SPDI:: NC_000011.10:55265123:C:T
Gene:: TRIM48 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.55265124C>T, NC_000011.9:g.55032600C>T, NM_024114.5:c.269C>T, NM_024114.4:c.269C>T, NM_024114.3:c.269C>T, NP_077019.2:p.Ala90Val

Select item 148849069915.

rs1488490699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:55265320 (GRCh38)
11:55032796 (GRCh37)
Canonical SPDI:: NC_000011.10:55265319:T:A
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.55265320T>A, NC_000011.9:g.55032796T>A

Select item 148847577716.

rs1488475777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:55269314 (GRCh38)
11:55036790 (GRCh37)
Canonical SPDI:: NC_000011.10:55269313:G:T
Gene:: TRIM48 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.55269314G>T, NC_000011.9:g.55036790G>T, NM_024114.5:c.651G>T, NM_024114.4:c.651G>T, NM_024114.3:c.651G>T

Select item 148834038217.

rs1488340382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:55269354 (GRCh38)
11:55036830 (GRCh37)
Canonical SPDI:: NC_000011.10:55269353:A:G
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.55269354A>G, NC_000011.9:g.55036830A>G

Select item 148829203018.

rs1488292030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:55263093 (GRCh38)
11:55030569 (GRCh37)
Canonical SPDI:: NC_000011.10:55263092:C:T
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.55263093C>T, NC_000011.9:g.55030569C>T

Select item 148828339319.

rs1488283393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:55270529 (GRCh38)
11:55038005 (GRCh37)
Canonical SPDI:: NC_000011.10:55270528:C:G,NC_000011.10:55270528:C:T
Gene:: TRIM48 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.55270529C>G, NC_000011.10:g.55270529C>T, NC_000011.9:g.55038005C>G, NC_000011.9:g.55038005C>T, NM_024114.5:c.*94C>G, NM_024114.5:c.*94C>T, NM_024114.4:c.*94C>G, NM_024114.4:c.*94C>T, NM_024114.3:c.*94C>G, NM_024114.3:c.*94C>T

Select item 148801426320.

rs1488014263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:55268422 (GRCh38)
11:55035898 (GRCh37)
Canonical SPDI:: NC_000011.10:55268421:A:T
Gene:: TRIM48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.001931/30 (TOMMO)
HGVS:: NC_000011.10:g.55268422A>T, NC_000011.9:g.55035898A>T

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