SNP Links for Gene (Select 10155) - SNP

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Select item 14913655051.

rs1491365505 has merged into rs1319783348 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:58543096 (GRCh38)
19:59054463 (GRCh37)
Canonical SPDI:: NC_000019.10:58543090:TTTTTTTT:TTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTTT
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.58543096_58543098del, NC_000019.10:g.58543097_58543098del, NC_000019.10:g.58543098del, NC_000019.10:g.58543098dup, NC_000019.10:g.58543097_58543098dup, NC_000019.9:g.59054463_59054465del, NC_000019.9:g.59054464_59054465del, NC_000019.9:g.59054465del, NC_000019.9:g.59054465dup, NC_000019.9:g.59054464_59054465dup, NG_046945.1:g.3628_3630del, NG_046945.1:g.3629_3630del, NG_046945.1:g.3630del, NG_046945.1:g.3630dup, NG_046945.1:g.3629_3630dup

Select item 14912646952.

rs1491264695 has merged into rs1319783348 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:58543096 (GRCh38)
19:59054463 (GRCh37)
Canonical SPDI:: NC_000019.10:58543090:TTTTTTTT:TTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTTT
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.58543096_58543098del, NC_000019.10:g.58543097_58543098del, NC_000019.10:g.58543098del, NC_000019.10:g.58543098dup, NC_000019.10:g.58543097_58543098dup, NC_000019.9:g.59054463_59054465del, NC_000019.9:g.59054464_59054465del, NC_000019.9:g.59054465del, NC_000019.9:g.59054465dup, NC_000019.9:g.59054464_59054465dup, NG_046945.1:g.3628_3630del, NG_046945.1:g.3629_3630del, NG_046945.1:g.3630del, NG_046945.1:g.3630dup, NG_046945.1:g.3629_3630dup

Select item 14911904913.

rs1491190491 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:58543091 (GRCh38)
19:59054459 (GRCh37)
Canonical SPDI:: NC_000019.10:58543091::A
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.58543091_58543092insA, NC_000019.9:g.59054458_59054459insA, NG_046945.1:g.3623_3624insA

Select item 14907114144.

rs1490711414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58545211 (GRCh38)
19:59056578 (GRCh37)
Canonical SPDI:: NC_000019.10:58545210:C:T
Gene:: TRIM28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.58545211C>T, NC_000019.9:g.59056578C>T, NG_046945.1:g.5743C>T

Select item 14906429845.

rs1490642984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58544795 (GRCh38)
19:59056162 (GRCh37)
Canonical SPDI:: NC_000019.10:58544794:C:T
Gene:: TRIM28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58544795C>T, NC_000019.9:g.59056162C>T, NG_046945.1:g.5327C>T, NM_005762.3:c.38C>T, NM_005762.2:c.38C>T, NP_005753.1:p.Ala13Val

Select item 14904516086.

rs1490451608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:58545383 (GRCh38)
19:59056750 (GRCh37)
Canonical SPDI:: NC_000019.10:58545382:G:T
Gene:: TRIM28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.58545383G>T, NC_000019.9:g.59056750G>T, NG_046945.1:g.5915G>T

Select item 14902338477.

rs1490233847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58544930 (GRCh38)
19:59056297 (GRCh37)
Canonical SPDI:: NC_000019.10:58544929:C:T
Gene:: TRIM28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58544930C>T, NC_000019.9:g.59056297C>T, NG_046945.1:g.5462C>T, NM_005762.3:c.173C>T, NM_005762.2:c.173C>T, NP_005753.1:p.Ala58Val

Select item 14901314418.

rs1490131441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:58545770 (GRCh38)
19:59057137 (GRCh37)
Canonical SPDI:: NC_000019.10:58545769:A:C
Gene:: TRIM28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58545770A>C, NC_000019.9:g.59057137A>C, NG_046945.1:g.6302A>C, NM_005762.3:c.460A>C, NM_005762.2:c.460A>C, NP_005753.1:p.Thr154Pro

Select item 14899615349.

rs1489961534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58544141 (GRCh38)
19:59055508 (GRCh37)
Canonical SPDI:: NC_000019.10:58544140:C:G,NC_000019.10:58544140:C:T
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
G=0.000684/2 (KOREAN)
G=0.001638/3 (Korea1K)
HGVS:: NC_000019.10:g.58544141C>G, NC_000019.10:g.58544141C>T, NC_000019.9:g.59055508C>G, NC_000019.9:g.59055508C>T, NG_046945.1:g.4673C>G, NG_046945.1:g.4673C>T, NM_005762.3:c.-617C>G, NM_005762.3:c.-617C>T

Select item 148959518110.

rs1489595181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58546688 (GRCh38)
19:59058055 (GRCh37)
Canonical SPDI:: NC_000019.10:58546687:C:T
Gene:: TRIM28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.58546688C>T, NC_000019.9:g.59058055C>T, NG_046945.1:g.7220C>T

Select item 148946664311.

rs1489466643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:58546107 (GRCh38)
19:59057474 (GRCh37)
Canonical SPDI:: NC_000019.10:58546106:T:A
Gene:: TRIM28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.58546107T>A, NC_000019.9:g.59057474T>A, NG_046945.1:g.6639T>A

Select item 148933021512.

rs1489330215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58543759 (GRCh38)
19:59055126 (GRCh37)
Canonical SPDI:: NC_000019.10:58543758:C:G,NC_000019.10:58543758:C:T
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58543759C>G, NC_000019.10:g.58543759C>T, NC_000019.9:g.59055126C>G, NC_000019.9:g.59055126C>T, NG_046945.1:g.4291C>G, NG_046945.1:g.4291C>T

Select item 148893723613.

rs1488937236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:58543398 (GRCh38)
19:59054765 (GRCh37)
Canonical SPDI:: NC_000019.10:58543397:C:G
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.58543398C>G, NC_000019.9:g.59054765C>G, NG_046945.1:g.3930C>G, NG_043950.1:g.281G>C

Select item 148867994414.

rs1488679944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58545551 (GRCh38)
19:59056918 (GRCh37)
Canonical SPDI:: NC_000019.10:58545550:C:T
Gene:: TRIM28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.58545551C>T, NC_000019.9:g.59056918C>T, NG_046945.1:g.6083C>T

Select item 148857065815.

rs1488570658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:58548909 (GRCh38)
19:59060276 (GRCh37)
Canonical SPDI:: NC_000019.10:58548908:C:A
Gene:: TRIM28 (Varview), MIR6807 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58548909C>A, NC_000019.9:g.59060276C>A, NG_046945.1:g.9441C>A, NM_005762.3:c.1408C>A, NM_005762.2:c.1408C>A

Select item 148849423216.

rs1488494232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:58545050 (GRCh38)
19:59056417 (GRCh37)
Canonical SPDI:: NC_000019.10:58545049:C:A
Gene:: TRIM28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58545050C>A, NC_000019.9:g.59056417C>A, NG_046945.1:g.5582C>A, NM_005762.3:c.293C>A, NM_005762.2:c.293C>A, NP_005753.1:p.Ala98Asp

Select item 148847336517.

rs1488473365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:58544106 (GRCh38)
19:59055473 (GRCh37)
Canonical SPDI:: NC_000019.10:58544105:C:G
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58544106C>G, NC_000019.9:g.59055473C>G, NG_046945.1:g.4638C>G, NM_005762.3:c.-652C>G

Select item 148794554018.

rs1487945540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58544982 (GRCh38)
19:59056349 (GRCh37)
Canonical SPDI:: NC_000019.10:58544981:G:C
Gene:: TRIM28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.58544982G>C, NC_000019.9:g.59056349G>C, NG_046945.1:g.5514G>C, NM_005762.3:c.225G>C, NM_005762.2:c.225G>C, NP_005753.1:p.Glu75Asp

Select item 148793481919.

rs1487934819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:58548653 (GRCh38)
19:59060020 (GRCh37)
Canonical SPDI:: NC_000019.10:58548652:G:T
Gene:: TRIM28 (Varview), MIR6807 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.58548653G>T, NC_000019.9:g.59060020G>T, NG_046945.1:g.9185G>T

Select item 148776514920.

rs1487765149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58543493 (GRCh38)
19:59054860 (GRCh37)
Canonical SPDI:: NC_000019.10:58543492:C:G,NC_000019.10:58543492:C:T
Gene:: TRIM28 (Varview), ZBTB45 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58543493C>G, NC_000019.10:g.58543493C>T, NC_000019.9:g.59054860C>G, NC_000019.9:g.59054860C>T, NG_046945.1:g.4025C>G, NG_046945.1:g.4025C>T, NG_043950.1:g.186G>C, NG_043950.1:g.186G>A

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