SNP Links for Nucleotide (Select 1135453157) - SNP

Links from Nucleotide

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Select item 14902253931.

rs1490225393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:30635122 (GRCh38)
8:30492639 (GRCh37)
Canonical SPDI:: NC_000008.11:30635121:A:G,NC_000008.11:30635121:A:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.30635122A>G, NC_000008.11:g.30635122A>T, NC_000008.10:g.30492639A>G, NC_000008.10:g.30492639A>T, NG_052833.1:g.28120T>C, NG_052833.1:g.28120T>A, NM_002095.6:c.168T>C, NM_002095.6:c.168T>A, NM_002095.5:c.168T>C, NM_002095.5:c.168T>A, NM_002095.4:c.168T>C, NM_002095.4:c.168T>A, NM_001348353.1:c.168T>C, NM_001348353.1:c.168T>A, XM_011544509.3:c.168T>C, XM_011544509.3:c.168T>A, XM_011544509.2:c.168T>C, XM_011544509.2:c.168T>A, XM_011544509.1:c.168T>C, XM_011544509.1:c.168T>A, XM_024447138.2:c.168T>C, XM_024447138.2:c.168T>A, XM_024447138.1:c.168T>C, XM_024447138.1:c.168T>A, XM_017013363.2:c.168T>C, XM_017013363.2:c.168T>A, XM_017013363.1:c.168T>C, XM_017013363.1:c.168T>A, XM_017013364.2:c.168T>C, XM_017013364.2:c.168T>A, XM_017013364.1:c.168T>C, XM_017013364.1:c.168T>A, XM_011544510.2:c.168T>C, XM_011544510.2:c.168T>A, XM_011544510.1:c.168T>C, XM_011544510.1:c.168T>A, NP_002086.1:p.Asp56Glu, NP_001335282.1:p.Asp56Glu, XP_011542811.1:p.Asp56Glu, XP_024302906.1:p.Asp56Glu, XP_016868852.1:p.Asp56Glu, XP_016868853.1:p.Asp56Glu, XP_011542812.1:p.Asp56Glu

Select item 14898491572.

rs1489849157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:30607086 (GRCh38)
8:30464603 (GRCh37)
Canonical SPDI:: NC_000008.11:30607085:T:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.30607086T>C, NC_000008.10:g.30464603T>C, NG_052833.1:g.56156A>G, NM_002095.6:c.614A>G, NM_002095.5:c.614A>G, NM_002095.4:c.614A>G, NM_001348353.1:c.614A>G, XM_011544509.3:c.614A>G, XM_011544509.2:c.614A>G, XM_011544509.1:c.614A>G, XM_024447138.2:c.614A>G, XM_024447138.1:c.614A>G, XM_017013363.2:c.614A>G, XM_017013363.1:c.614A>G, XM_017013364.2:c.614A>G, XM_017013364.1:c.614A>G, XM_011544510.2:c.614A>G, XM_011544510.1:c.614A>G, NP_002086.1:p.Asp205Gly, NP_001335282.1:p.Asp205Gly, XP_011542811.1:p.Asp205Gly, XP_024302906.1:p.Asp205Gly, XP_016868852.1:p.Asp205Gly, XP_016868853.1:p.Asp205Gly, XP_011542812.1:p.Asp205Gly

Select item 14845848803.

rs1484584880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:30584731 (GRCh38)
8:30442248 (GRCh37)
Canonical SPDI:: NC_000008.11:30584730:G:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.30584731G>C, NC_000008.10:g.30442248G>C, NG_052833.1:g.78511C>G, NM_001348353.1:c.*408C>G, XM_011544509.3:c.*408C>G, XM_011544509.2:c.*408C>G

Select item 14808397664.

rs1480839766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:30607094 (GRCh38)
8:30464611 (GRCh37)
Canonical SPDI:: NC_000008.11:30607093:G:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30607094G>A, NC_000008.10:g.30464611G>A, NG_052833.1:g.56148C>T, NM_002095.6:c.606C>T, NM_002095.5:c.606C>T, NM_002095.4:c.606C>T, NM_001348353.1:c.606C>T, XM_011544509.3:c.606C>T, XM_011544509.2:c.606C>T, XM_011544509.1:c.606C>T, XM_024447138.2:c.606C>T, XM_024447138.1:c.606C>T, XM_017013363.2:c.606C>T, XM_017013363.1:c.606C>T, XM_017013364.2:c.606C>T, XM_017013364.1:c.606C>T, XM_011544510.2:c.606C>T, XM_011544510.1:c.606C>T

Select item 14802385315.

rs1480238531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:30635036 (GRCh38)
8:30492553 (GRCh37)
Canonical SPDI:: NC_000008.11:30635035:A:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30635036A>C, NC_000008.10:g.30492553A>C, NG_052833.1:g.28206T>G, NM_002095.6:c.254T>G, NM_002095.5:c.254T>G, NM_002095.4:c.254T>G, NM_001348353.1:c.254T>G, XM_011544509.3:c.254T>G, XM_011544509.2:c.254T>G, XM_011544509.1:c.254T>G, XM_024447138.2:c.254T>G, XM_024447138.1:c.254T>G, XM_017013363.2:c.254T>G, XM_017013363.1:c.254T>G, XM_017013364.2:c.254T>G, XM_017013364.1:c.254T>G, XM_011544510.2:c.254T>G, XM_011544510.1:c.254T>G, NP_002086.1:p.Met85Arg, NP_001335282.1:p.Met85Arg, XP_011542811.1:p.Met85Arg, XP_024302906.1:p.Met85Arg, XP_016868852.1:p.Met85Arg, XP_016868853.1:p.Met85Arg, XP_011542812.1:p.Met85Arg

Select item 14798719486.

rs1479871948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:30614635 (GRCh38)
8:30472152 (GRCh37)
Canonical SPDI:: NC_000008.11:30614634:G:A,NC_000008.11:30614634:G:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.30614635G>A, NC_000008.11:g.30614635G>C, NC_000008.10:g.30472152G>A, NC_000008.10:g.30472152G>C, NG_052833.1:g.48607C>T, NG_052833.1:g.48607C>G, NM_002095.6:c.339C>T, NM_002095.6:c.339C>G, NM_002095.5:c.339C>T, NM_002095.5:c.339C>G, NM_002095.4:c.339C>T, NM_002095.4:c.339C>G, NM_001348353.1:c.339C>T, NM_001348353.1:c.339C>G, XM_011544509.3:c.339C>T, XM_011544509.3:c.339C>G, XM_011544509.2:c.339C>T, XM_011544509.2:c.339C>G, XM_011544509.1:c.339C>T, XM_011544509.1:c.339C>G, XM_024447138.2:c.339C>T, XM_024447138.2:c.339C>G, XM_024447138.1:c.339C>T, XM_024447138.1:c.339C>G, XM_017013363.2:c.339C>T, XM_017013363.2:c.339C>G, XM_017013363.1:c.339C>T, XM_017013363.1:c.339C>G, XM_017013364.2:c.339C>T, XM_017013364.2:c.339C>G, XM_017013364.1:c.339C>T, XM_017013364.1:c.339C>G, XM_011544510.2:c.339C>T, XM_011544510.2:c.339C>G, XM_011544510.1:c.339C>T, XM_011544510.1:c.339C>G

Select item 14781639097.

rs1478163909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30585032 (GRCh38)
8:30442549 (GRCh37)
Canonical SPDI:: NC_000008.11:30585031:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.30585032C>T, NC_000008.10:g.30442549C>T, NG_052833.1:g.78210G>A, NM_001348353.1:c.*107G>A, XM_011544509.3:c.*107G>A, XM_011544509.2:c.*107G>A, XM_011544509.1:c.*107G>A

Select item 14721063348.

rs1472106334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30585134 (GRCh38)
8:30442651 (GRCh37)
Canonical SPDI:: NC_000008.11:30585133:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,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_000008.11:g.30585134C>T, NC_000008.10:g.30442651C>T, NG_052833.1:g.78108G>A, NM_001348353.1:c.*5G>A, XM_011544509.3:c.*5G>A, XM_011544509.2:c.*5G>A, XM_011544509.1:c.*5G>A

Select item 14708066259.

rs1470806625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30612340 (GRCh38)
8:30469857 (GRCh37)
Canonical SPDI:: NC_000008.11:30612339:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30612340C>T, NC_000008.10:g.30469857C>T, NG_052833.1:g.50902G>A, NM_002095.6:c.508G>A, NM_002095.5:c.508G>A, NM_002095.4:c.508G>A, NM_001348353.1:c.508G>A, XM_011544509.3:c.508G>A, XM_011544509.2:c.508G>A, XM_011544509.1:c.508G>A, XM_024447138.2:c.508G>A, XM_024447138.1:c.508G>A, XM_017013363.2:c.508G>A, XM_017013363.1:c.508G>A, XM_017013364.2:c.508G>A, XM_017013364.1:c.508G>A, XM_011544510.2:c.508G>A, XM_011544510.1:c.508G>A, NP_002086.1:p.Asp170Asn, NP_001335282.1:p.Asp170Asn, XP_011542811.1:p.Asp170Asn, XP_024302906.1:p.Asp170Asn, XP_016868852.1:p.Asp170Asn, XP_016868853.1:p.Asp170Asn, XP_011542812.1:p.Asp170Asn

Select item 146831557810.

rs1468315578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:30585047 (GRCh38)
8:30442565 (GRCh37)
Canonical SPDI:: NC_000008.11:30585047:T:TT
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000008.11:g.30585048dup, NC_000008.10:g.30442565dup, NG_052833.1:g.78194dup, NM_001348353.1:c.*91dup, XM_011544509.3:c.*91dup, XM_011544509.2:c.*91dup, XM_011544509.1:c.*91dup

Select item 146788305311.

rs1467883053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:30584495 (GRCh38)
8:30442012 (GRCh37)
Canonical SPDI:: NC_000008.11:30584494:T:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.30584495T>C, NC_000008.10:g.30442012T>C, NG_052833.1:g.78747A>G, NM_001348353.1:c.*644A>G, XM_011544509.3:c.*644A>G, XM_011544509.2:c.*644A>G

Select item 146781347112.

rs1467813471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:30584855 (GRCh38)
8:30442372 (GRCh37)
Canonical SPDI:: NC_000008.11:30584854:T:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.30584855T>C, NC_000008.10:g.30442372T>C, NG_052833.1:g.78387A>G, NM_001348353.1:c.*284A>G, XM_011544509.3:c.*284A>G, XM_011544509.2:c.*284A>G

Select item 146703294713.

rs1467032947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30653460 (GRCh38)
8:30510977 (GRCh37)
Canonical SPDI:: NC_000008.11:30653459:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000008.11:g.30653460C>T, NC_000008.10:g.30510977C>T, NG_052833.1:g.9782G>A, NM_002095.6:c.139G>A, NM_002095.5:c.139G>A, NM_002095.4:c.139G>A, NM_001348353.1:c.139G>A, XM_011544509.3:c.139G>A, XM_011544509.2:c.139G>A, XM_011544509.1:c.139G>A, XM_024447138.2:c.139G>A, XM_024447138.1:c.139G>A, XM_017013363.2:c.139G>A, XM_017013363.1:c.139G>A, XM_017013364.2:c.139G>A, XM_017013364.1:c.139G>A, XM_011544510.2:c.139G>A, XM_011544510.1:c.139G>A, NP_002086.1:p.Gly47Arg, NP_001335282.1:p.Gly47Arg, XP_011542811.1:p.Gly47Arg, XP_024302906.1:p.Gly47Arg, XP_016868852.1:p.Gly47Arg, XP_016868853.1:p.Gly47Arg, XP_011542812.1:p.Gly47Arg

Select item 146098120314.

rs1460981203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:30584548 (GRCh38)
8:30442065 (GRCh37)
Canonical SPDI:: NC_000008.11:30584547:G:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.30584548G>C, NC_000008.10:g.30442065G>C, NG_052833.1:g.78694C>G, NM_001348353.1:c.*591C>G, XM_011544509.3:c.*591C>G, XM_011544509.2:c.*591C>G

Select item 145931563615.

rs1459315636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:30584818 (GRCh38)
8:30442335 (GRCh37)
Canonical SPDI:: NC_000008.11:30584817:A:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.30584818A>C, NC_000008.10:g.30442335A>C, NG_052833.1:g.78424T>G, NM_001348353.1:c.*321T>G, XM_011544509.3:c.*321T>G, XM_011544509.2:c.*321T>G

Select item 145787539416.

rs1457875394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:30584484 (GRCh38)
8:30442001 (GRCh37)
Canonical SPDI:: NC_000008.11:30584483:A:G
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000008.11:g.30584484A>G, NC_000008.10:g.30442001A>G, NG_052833.1:g.78758T>C, NM_001348353.1:c.*655T>C, XM_011544509.3:c.*655T>C, XM_011544509.2:c.*655T>C

Select item 145174163817.

rs1451741638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30584907 (GRCh38)
8:30442424 (GRCh37)
Canonical SPDI:: NC_000008.11:30584906:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.30584907C>T, NC_000008.10:g.30442424C>T, NG_052833.1:g.78335G>A, NM_001348353.1:c.*232G>A, XM_011544509.3:c.*232G>A, XM_011544509.2:c.*232G>A

Select item 145164376418.

rs1451643764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:30584923 (GRCh38)
8:30442440 (GRCh37)
Canonical SPDI:: NC_000008.11:30584922:G:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_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_000008.11:g.30584923G>A, NC_000008.10:g.30442440G>A, NG_052833.1:g.78319C>T, NM_001348353.1:c.*216C>T, XM_011544509.3:c.*216C>T, XM_011544509.2:c.*216C>T

Select item 145070025419.

rs1450700254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:30584841 (GRCh38)
8:30442358 (GRCh37)
Canonical SPDI:: NC_000008.11:30584840:T:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.30584841T>A, NC_000008.10:g.30442358T>A, NG_052833.1:g.78401A>T, NM_001348353.1:c.*298A>T, XM_011544509.3:c.*298A>T, XM_011544509.2:c.*298A>T

Select item 145004663820.

rs1450046638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30657609 (GRCh38)
8:30515126 (GRCh37)
Canonical SPDI:: NC_000008.11:30657608:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.30657609C>T, NC_000008.10:g.30515126C>T, NG_052833.1:g.5633G>A, NM_001348353.1:c.-39G>A, XM_017013364.2:c.-39G>A, XM_017013364.1:c.-39G>A

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

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