SNP Links for Gene (Select 10597) - SNP

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Select item 14911040011.

rs1491104001 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:57363014 (GRCh38)
19:57874382 (GRCh37)
Canonical SPDI:: NC_000019.10:57363011:AGAG:AG
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.001334/21 (ALFA)
-=0.002267/318 (GnomAD)
-=0.002697/10 (TWINSUK)
-=0.002854/11 (ALSPAC)
-=0.006667/4 (NorthernSweden)
-=0.006696/3 (1000Genomes)
HGVS:: NC_000019.10:g.57363012AG[1], NC_000019.9:g.57874380AG[1]

Select item 14900881612.

rs1490088161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57361543 (GRCh38)
19:57872911 (GRCh37)
Canonical SPDI:: NC_000019.10:57361542:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57361543G>C, NC_000019.9:g.57872911G>C, NG_051201.1:g.15291G>C

Select item 14893534923.

rs1489353492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57363121 (GRCh38)
19:57874489 (GRCh37)
Canonical SPDI:: NC_000019.10:57363120:A:T
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000566/9 (TOMMO)
HGVS:: NC_000019.10:g.57363121A>T, NC_000019.9:g.57874489A>T

Select item 14891989384.

rs1489198938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57364720 (GRCh38)
19:57876088 (GRCh37)
Canonical SPDI:: NC_000019.10:57364719:G:A
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
A=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.57364720G>A, NC_000019.9:g.57876088G>A

Select item 14888694355.

rs1488869435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC,GCC,TCC [Show Flanks]
Chromosome:: 19:57363728 (GRCh38)
19:57875097 (GRCh37)
Canonical SPDI:: NC_000019.10:57363728:CC:CCACC,NC_000019.10:57363728:CC:CCGCC,NC_000019.10:57363728:CC:CCTCC
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCC=0./0 (ALFA)
CCT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57363730_57363731insACC, NC_000019.10:g.57363730_57363731insGCC, NC_000019.10:g.57363730_57363731insTCC, NC_000019.9:g.57875098_57875099insACC, NC_000019.9:g.57875098_57875099insGCC, NC_000019.9:g.57875098_57875099insTCC

Select item 14874535436.

rs1487453543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57365302 (GRCh38)
19:57876670 (GRCh37)
Canonical SPDI:: NC_000019.10:57365301:C:T
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57365302C>T, NC_000019.9:g.57876670C>T, NM_015890.2:c.*46C>T, NM_001355204.2:c.*46C>T, NM_001355204.1:c.*46C>T, NR_002166.1:n.681C>T, NM_015890.1:c.*46C>T

Select item 14869016387.

rs1486901638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57362011 (GRCh38)
19:57873379 (GRCh37)
Canonical SPDI:: NC_000019.10:57362010:T:C
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.57362011T>C, NC_000019.9:g.57873379T>C

Select item 14864489698.

rs1486448969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:57363988 (GRCh38)
19:57875356 (GRCh37)
Canonical SPDI:: NC_000019.10:57363987:G:A,NC_000019.10:57363987:G:C
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57363988G>A, NC_000019.10:g.57363988G>C, NC_000019.9:g.57875356G>A, NC_000019.9:g.57875356G>C

Select item 14864150819.

rs1486415081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:57363822 (GRCh38)
19:57875190 (GRCh37)
Canonical SPDI:: NC_000019.10:57363821:T:C,NC_000019.10:57363821:T:G
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00011/2 (TOMMO)
HGVS:: NC_000019.10:g.57363822T>C, NC_000019.10:g.57363822T>G, NC_000019.9:g.57875190T>C, NC_000019.9:g.57875190T>G

Select item 148605476710.

rs1486054767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57364366 (GRCh38)
19:57875734 (GRCh37)
Canonical SPDI:: NC_000019.10:57364365:C:T
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.57364366C>T, NC_000019.9:g.57875734C>T

Select item 148472365511.

rs1484723655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57362526 (GRCh38)
19:57873894 (GRCh37)
Canonical SPDI:: NC_000019.10:57362525:C:T
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000019.10:g.57362526C>T, NC_000019.9:g.57873894C>T

Select item 148254681712.

rs1482546817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57365645 (GRCh38)
19:57877013 (GRCh37)
Canonical SPDI:: NC_000019.10:57365644:A:G
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.57365645A>G, NC_000019.9:g.57877013A>G

Select item 148208225413.

rs1482082254 has merged into rs111817651 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTTT [Show Flanks]
Chromosome:: 19:57365872 (GRCh38)
19:57877240 (GRCh37)
Canonical SPDI:: NC_000019.10:57365862:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:57365862:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:57365862:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:57365862:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:57365862:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.000106/3 (TOMMO)
-=0.046126/231 (1000Genomes)
-=0.049594/13127 (TOPMED)
HGVS:: NC_000019.10:g.57365872_57365874del, NC_000019.10:g.57365873_57365874del, NC_000019.10:g.57365874del, NC_000019.10:g.57365874dup, NC_000019.10:g.57365871_57365874dup, NC_000019.9:g.57877240_57877242del, NC_000019.9:g.57877241_57877242del, NC_000019.9:g.57877242del, NC_000019.9:g.57877242dup, NC_000019.9:g.57877239_57877242dup

Select item 148074449714.

rs1480744497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57364657 (GRCh38)
19:57876025 (GRCh37)
Canonical SPDI:: NC_000019.10:57364656:C:T
Gene:: TRAPPC2B (Varview), ZNF547 (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.57364657C>T, NC_000019.9:g.57876025C>T

Select item 148009334515.

rs1480093345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57365552 (GRCh38)
19:57876920 (GRCh37)
Canonical SPDI:: NC_000019.10:57365551:A:G
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.57365552A>G, NC_000019.9:g.57876920A>G

Select item 147993856116.

rs1479938561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57362747 (GRCh38)
19:57874115 (GRCh37)
Canonical SPDI:: NC_000019.10:57362746:T:C
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.57362747T>C, NC_000019.9:g.57874115T>C

Select item 147989570017.

rs1479895700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:57362255 (GRCh38)
19:57873623 (GRCh37)
Canonical SPDI:: NC_000019.10:57362254:G:A,NC_000019.10:57362254:G:C
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57362255G>A, NC_000019.10:g.57362255G>C, NC_000019.9:g.57873623G>A, NC_000019.9:g.57873623G>C

Select item 147984338218.

rs1479843382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57364322 (GRCh38)
19:57875690 (GRCh37)
Canonical SPDI:: NC_000019.10:57364321:T:C
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57364322T>C, NC_000019.9:g.57875690T>C

Select item 147965803019.

rs1479658030 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 19:57364990 (GRCh38)
19:57876359 (GRCh37)
Canonical SPDI:: NC_000019.10:57364990:TGTG:TGTGTG
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57364991TG[3], NC_000019.9:g.57876359TG[3], NM_015890.2:c.160_161dup, NM_001355204.2:c.160_161dup, NM_001355204.1:c.160_161dup, NR_002166.1:n.370TG[3], NM_015890.1:c.160_161dup, NP_001342133.1:p.Trp54fs

Select item 147916438120.

rs1479164381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57365892 (GRCh38)
19:57877260 (GRCh37)
Canonical SPDI:: NC_000019.10:57365891:G:C
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.57365892G>C, NC_000019.9:g.57877260G>C

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