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Select item 14915318401.

rs1491531840 has merged into rs749069590 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:65624722 (GRCh38)
5:64920549 (GRCh37)
Canonical SPDI:: NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:65624710:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRIM23 (Varview), TRAPPC13 (Varview), SHLD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.65624722_65624734del, NC_000005.10:g.65624723_65624734del, NC_000005.10:g.65624724_65624734del, NC_000005.10:g.65624725_65624734del, NC_000005.10:g.65624726_65624734del, NC_000005.10:g.65624727_65624734del, NC_000005.10:g.65624728_65624734del, NC_000005.10:g.65624729_65624734del, NC_000005.10:g.65624730_65624734del, NC_000005.10:g.65624731_65624734del, NC_000005.10:g.65624732_65624734del, NC_000005.10:g.65624733_65624734del, NC_000005.10:g.65624734del, NC_000005.10:g.65624734dup, NC_000005.10:g.65624733_65624734dup, NC_000005.10:g.65624732_65624734dup, NC_000005.10:g.65624731_65624734dup, NC_000005.10:g.65624730_65624734dup, NC_000005.10:g.65624729_65624734dup, NC_000005.10:g.65624728_65624734dup, NC_000005.10:g.65624727_65624734dup, NC_000005.10:g.65624726_65624734dup, NC_000005.10:g.65624725_65624734dup, NC_000005.9:g.64920549_64920561del, NC_000005.9:g.64920550_64920561del, NC_000005.9:g.64920551_64920561del, NC_000005.9:g.64920552_64920561del, NC_000005.9:g.64920553_64920561del, NC_000005.9:g.64920554_64920561del, NC_000005.9:g.64920555_64920561del, NC_000005.9:g.64920556_64920561del, NC_000005.9:g.64920557_64920561del, NC_000005.9:g.64920558_64920561del, NC_000005.9:g.64920559_64920561del, NC_000005.9:g.64920560_64920561del, NC_000005.9:g.64920561del, NC_000005.9:g.64920561dup, NC_000005.9:g.64920560_64920561dup, NC_000005.9:g.64920559_64920561dup, NC_000005.9:g.64920558_64920561dup, NC_000005.9:g.64920557_64920561dup, NC_000005.9:g.64920556_64920561dup, NC_000005.9:g.64920555_64920561dup, NC_000005.9:g.64920554_64920561dup, NC_000005.9:g.64920553_64920561dup, NC_000005.9:g.64920552_64920561dup

Select item 14914651062.

rs1491465106 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTC,CTCTC,CTCTCTC,CTCTCTCTC,CTCTCTCTCTC,CTCTCTCTCTCTC,CTCTCTCTCTCTCTC [Show Flanks]
Chromosome:: 5:65624711 (GRCh38)
5:64920539 (GRCh37)
Canonical SPDI:: NC_000005.10:65624711::C,NC_000005.10:65624711::CTC,NC_000005.10:65624711::CTCTC,NC_000005.10:65624711::CTCTCTC,NC_000005.10:65624711::CTCTCTCTC,NC_000005.10:65624711::CTCTCTCTCTC,NC_000005.10:65624711::CTCTCTCTCTCTC,NC_000005.10:65624711::CTCTCTCTCTCTCTC
Gene:: TRIM23 (Varview), TRAPPC13 (Varview), SHLD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
C=0.00273/45 (TOMMO)
HGVS:: NC_000005.10:g.65624711_65624712insC, NC_000005.10:g.65624711_65624712insCTC, NC_000005.10:g.65624711_65624712insCTCTC, NC_000005.10:g.65624711_65624712insCTCTCTC, NC_000005.10:g.65624711_65624712insCTCTCTCTC, NC_000005.10:g.65624711_65624712insCTCTCTCTCTC, NC_000005.10:g.65624711_65624712insCTCTCTCTCTCTC, NC_000005.10:g.65624711_65624712insCTCTCTCTCTCTCTC, NC_000005.9:g.64920538_64920539insC, NC_000005.9:g.64920538_64920539insCTC, NC_000005.9:g.64920538_64920539insCTCTC, NC_000005.9:g.64920538_64920539insCTCTCTC, NC_000005.9:g.64920538_64920539insCTCTCTCTC, NC_000005.9:g.64920538_64920539insCTCTCTCTCTC, NC_000005.9:g.64920538_64920539insCTCTCTCTCTCTC, NC_000005.9:g.64920538_64920539insCTCTCTCTCTCTCTC

Select item 14912838543.

rs1491283854 has merged into rs34575401 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 5:65598760 (GRCh38)
5:64894587 (GRCh37)
Canonical SPDI:: NC_000005.10:65598748:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:65598748:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:65598748:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:65598748:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:65598748:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:65598748:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.325/13 (GENOME_DK)
A=0.3484/200 (NorthernSweden)
A=0.3778/1892 (1000Genomes)
HGVS:: NC_000005.10:g.65598760_65598762del, NC_000005.10:g.65598761_65598762del, NC_000005.10:g.65598762del, NC_000005.10:g.65598762dup, NC_000005.10:g.65598761_65598762dup, NC_000005.10:g.65598755_65598762dup, NC_000005.9:g.64894587_64894589del, NC_000005.9:g.64894588_64894589del, NC_000005.9:g.64894589del, NC_000005.9:g.64894589dup, NC_000005.9:g.64894588_64894589dup, NC_000005.9:g.64894582_64894589dup

Select item 14912336514.

rs1491233651 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:65624734 (GRCh38)
5:64920561 (GRCh37)
Canonical SPDI:: NC_000005.10:65624733:TA:
Gene:: TRIM23 (Varview), TRAPPC13 (Varview), SHLD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.00108/79 (GnomAD)
-=0.00172/11 (1000Genomes)
HGVS:: NC_000005.10:g.65624734_65624735del, NC_000005.9:g.64920561_64920562del, NM_024941.3:c.-327_-326del, NM_001093755.1:c.-327_-326del, NM_001243737.1:c.-327_-326del, NM_001093756.1:c.-327_-326del, NR_003545.1:n.4_5del

Select item 14911847415.

rs1491184741 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:65598748 (GRCh38)
5:64894575 (GRCh37)
Canonical SPDI:: NC_000005.10:65598747:CA:
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000005.10:g.65598748_65598749del, NC_000005.9:g.64894575_64894576del

Select item 14910731686.

rs1491073168 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:65606485 (GRCh38)
5:64902312 (GRCh37)
Canonical SPDI:: NC_000005.10:65606483:ACA:A
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.015259/181 (ALFA)
-=0.000283/5 (TOMMO)
-=0.018865/2510 (GnomAD)
-=0.022017/141 (1000Genomes)
HGVS:: NC_000005.10:g.65606485_65606486del, NC_000005.9:g.64902312_64902313del

Select item 14910024787.

rs1491002478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:65590328 (GRCh38)
5:64886155 (GRCh37)
Canonical SPDI:: NC_000005.10:65590327:C:A
Gene:: TRIM23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.65590328C>A, NC_000005.9:g.64886155C>A, NM_001656.4:c.*1441G>T, NM_001656.3:c.*1441G>T, XM_017009444.3:c.*1116G>T, XM_017009444.2:c.*1116G>T, XM_047417155.1:c.*1441G>T

Select item 14909990818.

rs1490999081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:65622251 (GRCh38)
5:64918078 (GRCh37)
Canonical SPDI:: NC_000005.10:65622250:C:T
Gene:: TRIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.65622251C>T, NC_000005.9:g.64918078C>T

Select item 14909298729.

rs1490929872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:65606155 (GRCh38)
5:64901982 (GRCh37)
Canonical SPDI:: NC_000005.10:65606154:G:A
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.65606155G>A, NC_000005.9:g.64901982G>A

Select item 149079694110.

rs1490796941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:65624307 (GRCh38)
5:64920134 (GRCh37)
Canonical SPDI:: NC_000005.10:65624306:C:A
Gene:: TRIM23 (Varview), TRAPPC13 (Varview), SHLD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.65624307C>A, NC_000005.9:g.64920134C>A, NM_001656.4:c.-33G>T, NM_001656.3:c.-33G>T, XM_017009444.3:c.-33G>T, XM_017009444.2:c.-33G>T, XM_017009444.1:c.-33G>T, NM_033227.3:c.-33G>T, NM_033227.2:c.-33G>T, NM_033228.3:c.-33G>T, NM_033228.2:c.-33G>T

Select item 149055298111.

rs1490552981 has merged into rs571911259 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 5:65613878 (GRCh38)
5:64909705 (GRCh37)
Canonical SPDI:: NC_000005.10:65613871:AAAAAAAA:AAAAAA,NC_000005.10:65613871:AAAAAAAA:AAAAAAA,NC_000005.10:65613871:AAAAAAAA:AAAAAAAAA
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.000436/10 (ALFA)
-=0.000942/11 (ExAC)
-=0.001175/142 (GnomAD_exomes)
-=0.005621/28 (1000Genomes)
HGVS:: NC_000005.10:g.65613878_65613879del, NC_000005.10:g.65613879del, NC_000005.10:g.65613879dup, NC_000005.9:g.64909705_64909706del, NC_000005.9:g.64909706del, NC_000005.9:g.64909706dup

Select item 149051317612.

rs1490513176 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:65621829 (GRCh38)
5:64917657 (GRCh37)
Canonical SPDI:: NC_000005.10:65621829:TT:TTT
Gene:: TRIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.65621831dup, NC_000005.9:g.64917658dup

Select item 149046231713.

rs1490462317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:65620984 (GRCh38)
5:64916811 (GRCh37)
Canonical SPDI:: NC_000005.10:65620983:C:T
Gene:: TRIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.65620984C>T, NC_000005.9:g.64916811C>T

Select item 149040737414.

rs1490407374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:65605928 (GRCh38)
5:64901755 (GRCh37)
Canonical SPDI:: NC_000005.10:65605927:T:C
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.65605928T>C, NC_000005.9:g.64901755T>C

Select item 149033698215.

rs1490336982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:65597501 (GRCh38)
5:64893328 (GRCh37)
Canonical SPDI:: NC_000005.10:65597500:T:A,NC_000005.10:65597500:T:G
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.65597501T>A, NC_000005.10:g.65597501T>G, NC_000005.9:g.64893328T>A, NC_000005.9:g.64893328T>G

Select item 149022809016.

rs1490228090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:65615996 (GRCh38)
5:64911823 (GRCh37)
Canonical SPDI:: NC_000005.10:65615995:T:C
Gene:: TRIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.65615996T>C, NC_000005.9:g.64911823T>C

Select item 149015986417.

rs1490159864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:65623880 (GRCh38)
5:64919707 (GRCh37)
Canonical SPDI:: NC_000005.10:65623879:G:A,NC_000005.10:65623879:G:C
Gene:: TRIM23 (Varview), TRAPPC13 (Varview), SHLD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.65623880G>A, NC_000005.10:g.65623880G>C, NC_000005.9:g.64919707G>A, NC_000005.9:g.64919707G>C

Select item 149011152218.

rs1490111522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:65606528 (GRCh38)
5:64902355 (GRCh37)
Canonical SPDI:: NC_000005.10:65606527:T:C,NC_000005.10:65606527:T:G
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.65606528T>C, NC_000005.10:g.65606528T>G, NC_000005.9:g.64902355T>C, NC_000005.9:g.64902355T>G

Select item 149006348419.

rs1490063484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:65601719 (GRCh38)
5:64897546 (GRCh37)
Canonical SPDI:: NC_000005.10:65601718:T:C
Gene:: TRIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.65601719T>C, NC_000005.9:g.64897546T>C

Select item 148988507720.

rs1489885077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:65589873 (GRCh38)
5:64885700 (GRCh37)
Canonical SPDI:: NC_000005.10:65589872:T:C
Gene:: TRIM23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.65589873T>C, NC_000005.9:g.64885700T>C, NM_001656.4:c.*1896A>G, NM_001656.3:c.*1896A>G, XM_017009444.3:c.*1571A>G, NM_033227.3:c.*426A>G, NM_033227.2:c.*426A>G, NM_033228.3:c.*466A>G, NM_033228.2:c.*466A>G, XM_047417155.1:c.*1896A>G

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