SNP Links for Gene (Select 23647) - SNP

Select item 14910812431.

rs1491081243 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 11:6480433 (GRCh38)
11:6501664 (GRCh37)
Canonical SPDI:: NC_000011.10:6480433::AAT
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.6480433_6480434insAAT, NC_000011.9:g.6501663_6501664insAAT, NM_001242854.3:c.-13_-12insATT, NM_001242854.2:c.-13_-12insATT, NM_001242854.1:c.-13_-12insATT, NR_164826.2:n.131_132insATT, NR_164826.1:n.131_132insATT, NR_163424.2:n.131_132insATT, NR_163424.1:n.131_132insATT, NM_001376562.2:c.-149_-148insATT, NM_001376562.1:c.-149_-148insATT, NM_001376558.2:c.-13_-12insATT, NM_001376558.1:c.-13_-12insATT, NM_001376559.2:c.-13_-12insATT, NM_001376559.1:c.-13_-12insATT, NM_001376560.2:c.-13_-12insATT, NM_001376560.1:c.-13_-12insATT, NM_001370409.2:c.-13_-12insATT, NM_001370409.1:c.-13_-12insATT, NM_001370413.2:c.-13_-12insATT, NM_001370413.1:c.-13_-12insATT, NR_164825.2:n.131_132insATT, NR_164825.1:n.131_132insATT, XM_047426687.1:c.-13_-12insATT

Select item 14910169842.

rs1491016984 has merged into rs34252093 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:6475690 (GRCh38)
11:6496920 (GRCh37)
Canonical SPDI:: NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6475679:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRIM3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.002/10 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000011.10:g.6475690_6475697del, NC_000011.10:g.6475693_6475697del, NC_000011.10:g.6475694_6475697del, NC_000011.10:g.6475695_6475697del, NC_000011.10:g.6475696_6475697del, NC_000011.10:g.6475697del, NC_000011.10:g.6475697dup, NC_000011.10:g.6475696_6475697dup, NC_000011.10:g.6475695_6475697dup, NC_000011.10:g.6475694_6475697dup, NC_000011.10:g.6475693_6475697dup, NC_000011.9:g.6496920_6496927del, NC_000011.9:g.6496923_6496927del, NC_000011.9:g.6496924_6496927del, NC_000011.9:g.6496925_6496927del, NC_000011.9:g.6496926_6496927del, NC_000011.9:g.6496927del, NC_000011.9:g.6496927dup, NC_000011.9:g.6496926_6496927dup, NC_000011.9:g.6496925_6496927dup, NC_000011.9:g.6496924_6496927dup, NC_000011.9:g.6496923_6496927dup, NM_012402.4:c.*1426_*1433del, NM_012402.4:c.*1429_*1433del, NM_012402.4:c.*1430_*1433del, NM_012402.4:c.*1431_*1433del, NM_012402.4:c.*1432_*1433del, NM_012402.4:c.*1433del, NM_012402.4:c.*1433dup, NM_012402.4:c.*1432_*1433dup, NM_012402.4:c.*1431_*1433dup, NM_012402.4:c.*1430_*1433dup, NM_012402.4:c.*1429_*1433dup, NM_012402.3:c.*1426_*1433del, NM_012402.3:c.*1429_*1433del, NM_012402.3:c.*1430_*1433del, NM_012402.3:c.*1431_*1433del, NM_012402.3:c.*1432_*1433del, NM_012402.3:c.*1433del, NM_012402.3:c.*1433dup, NM_012402.3:c.*1432_*1433dup, NM_012402.3:c.*1431_*1433dup, NM_012402.3:c.*1430_*1433dup, NM_012402.3:c.*1429_*1433dup, NM_001242854.2:c.*1426_*1433del, NM_001242854.2:c.*1429_*1433del, NM_001242854.2:c.*1430_*1433del, NM_001242854.2:c.*1431_*1433del, NM_001242854.2:c.*1432_*1433del, NM_001242854.2:c.*1433del, NM_001242854.2:c.*1433dup, NM_001242854.2:c.*1432_*1433dup, NM_001242854.2:c.*1431_*1433dup, NM_001242854.2:c.*1430_*1433dup, NM_001242854.2:c.*1429_*1433dup, NM_001242855.2:c.*1426_*1433del, NM_001242855.2:c.*1429_*1433del, NM_001242855.2:c.*1430_*1433del, NM_001242855.2:c.*1431_*1433del, NM_001242855.2:c.*1432_*1433del, NM_001242855.2:c.*1433del, NM_001242855.2:c.*1433dup, NM_001242855.2:c.*1432_*1433dup, NM_001242855.2:c.*1431_*1433dup, NM_001242855.2:c.*1430_*1433dup, NM_001242855.2:c.*1429_*1433dup, NM_001242856.2:c.*1426_*1433del, NM_001242856.2:c.*1429_*1433del, NM_001242856.2:c.*1430_*1433del, NM_001242856.2:c.*1431_*1433del, NM_001242856.2:c.*1432_*1433del, NM_001242856.2:c.*1433del, NM_001242856.2:c.*1433dup, NM_001242856.2:c.*1432_*1433dup, NM_001242856.2:c.*1431_*1433dup, NM_001242856.2:c.*1430_*1433dup, NM_001242856.2:c.*1429_*1433dup, NM_001242854.1:c.*1426_*1433del, NM_001242854.1:c.*1429_*1433del, NM_001242854.1:c.*1430_*1433del, NM_001242854.1:c.*1431_*1433del, NM_001242854.1:c.*1432_*1433del, NM_001242854.1:c.*1433del, NM_001242854.1:c.*1433dup, NM_001242854.1:c.*1432_*1433dup, NM_001242854.1:c.*1431_*1433dup, NM_001242854.1:c.*1430_*1433dup, NM_001242854.1:c.*1429_*1433dup, NR_164826.1:n.2780_2787del, NR_164826.1:n.2783_2787del, NR_164826.1:n.2784_2787del, NR_164826.1:n.2785_2787del, NR_164826.1:n.2786_2787del, NR_164826.1:n.2787del, NR_164826.1:n.2787dup, NR_164826.1:n.2786_2787dup, NR_164826.1:n.2785_2787dup, NR_164826.1:n.2784_2787dup, NR_164826.1:n.2783_2787dup, NM_001376561.1:c.*1636_*1643del, NM_001376561.1:c.*1639_*1643del, NM_001376561.1:c.*1640_*1643del, NM_001376561.1:c.*1641_*1643del, NM_001376561.1:c.*1642_*1643del, NM_001376561.1:c.*1643del, NM_001376561.1:c.*1643dup, NM_001376561.1:c.*1642_*1643dup, NM_001376561.1:c.*1641_*1643dup, NM_001376561.1:c.*1640_*1643dup, NM_001376561.1:c.*1639_*1643dup, NR_163424.1:n.2669_2676del, NR_163424.1:n.2672_2676del, NR_163424.1:n.2673_2676del, NR_163424.1:n.2674_2676del, NR_163424.1:n.2675_2676del, NR_163424.1:n.2676del, NR_163424.1:n.2676dup, NR_163424.1:n.2675_2676dup, NR_163424.1:n.2674_2676dup, NR_163424.1:n.2673_2676dup, NR_163424.1:n.2672_2676dup, NM_001370408.1:c.*1426_*1433del, NM_001370408.1:c.*1429_*1433del, NM_001370408.1:c.*1430_*1433del, NM_001370408.1:c.*1431_*1433del, NM_001370408.1:c.*1432_*1433del, NM_001370408.1:c.*1433del, NM_001370408.1:c.*1433dup, NM_001370408.1:c.*1432_*1433dup, NM_001370408.1:c.*1431_*1433dup, NM_001370408.1:c.*1430_*1433dup, NM_001370408.1:c.*1429_*1433dup, NM_001376562.1:c.*1426_*1433del, NM_001376562.1:c.*1429_*1433del, NM_001376562.1:c.*1430_*1433del, NM_001376562.1:c.*1431_*1433del, NM_001376562.1:c.*1432_*1433del, NM_001376562.1:c.*1433del, NM_001376562.1:c.*1433dup, NM_001376562.1:c.*1432_*1433dup, NM_001376562.1:c.*1431_*1433dup, NM_001376562.1:c.*1430_*1433dup, NM_001376562.1:c.*1429_*1433dup, NM_001242855.1:c.*1426_*1433del, NM_001242855.1:c.*1429_*1433del, NM_001242855.1:c.*1430_*1433del, NM_001242855.1:c.*1431_*1433del, NM_001242855.1:c.*1432_*1433del, NM_001242855.1:c.*1433del, NM_001242855.1:c.*1433dup, NM_001242855.1:c.*1432_*1433dup, NM_001242855.1:c.*1431_*1433dup, NM_001242855.1:c.*1430_*1433dup, NM_001242855.1:c.*1429_*1433dup, NM_001376558.1:c.*1426_*1433del, NM_001376558.1:c.*1429_*1433del, NM_001376558.1:c.*1430_*1433del, NM_001376558.1:c.*1431_*1433del, NM_001376558.1:c.*1432_*1433del, NM_001376558.1:c.*1433del, NM_001376558.1:c.*1433dup, NM_001376558.1:c.*1432_*1433dup, NM_001376558.1:c.*1431_*1433dup, NM_001376558.1:c.*1430_*1433dup, NM_001376558.1:c.*1429_*1433dup, NM_001376559.1:c.*1426_*1433del, NM_001376559.1:c.*1429_*1433del, NM_001376559.1:c.*1430_*1433del, NM_001376559.1:c.*1431_*1433del, NM_001376559.1:c.*1432_*1433del, NM_001376559.1:c.*1433del, NM_001376559.1:c.*1433dup, NM_001376559.1:c.*1432_*1433dup, NM_001376559.1:c.*1431_*1433dup, NM_001376559.1:c.*1430_*1433dup, NM_001376559.1:c.*1429_*1433dup, NM_001376560.1:c.*1426_*1433del, NM_001376560.1:c.*1429_*1433del, NM_001376560.1:c.*1430_*1433del, NM_001376560.1:c.*1431_*1433del, NM_001376560.1:c.*1432_*1433del, NM_001376560.1:c.*1433del, NM_001376560.1:c.*1433dup, NM_001376560.1:c.*1432_*1433dup, NM_001376560.1:c.*1431_*1433dup, NM_001376560.1:c.*1430_*1433dup, NM_001376560.1:c.*1429_*1433dup, NM_001370409.1:c.*1426_*1433del, NM_001370409.1:c.*1429_*1433del, NM_001370409.1:c.*1430_*1433del, NM_001370409.1:c.*1431_*1433del, NM_001370409.1:c.*1432_*1433del, NM_001370409.1:c.*1433del, NM_001370409.1:c.*1433dup, NM_001370409.1:c.*1432_*1433dup, NM_001370409.1:c.*1431_*1433dup, NM_001370409.1:c.*1430_*1433dup, NM_001370409.1:c.*1429_*1433dup, NM_001376563.1:c.*1426_*1433del, NM_001376563.1:c.*1429_*1433del, NM_001376563.1:c.*1430_*1433del, NM_001376563.1:c.*1431_*1433del, NM_001376563.1:c.*1432_*1433del, NM_001376563.1:c.*1433del, NM_001376563.1:c.*1433dup, NM_001376563.1:c.*1432_*1433dup, NM_001376563.1:c.*1431_*1433dup, NM_001376563.1:c.*1430_*1433dup, NM_001376563.1:c.*1429_*1433dup, NM_001370406.1:c.*1426_*1433del, NM_001370406.1:c.*1429_*1433del, NM_001370406.1:c.*1430_*1433del, NM_001370406.1:c.*1431_*1433del, NM_001370406.1:c.*1432_*1433del, NM_001370406.1:c.*1433del, NM_001370406.1:c.*1433dup, NM_001370406.1:c.*1432_*1433dup, NM_001370406.1:c.*1431_*1433dup, NM_001370406.1:c.*1430_*1433dup, NM_001370406.1:c.*1429_*1433dup, NM_001370413.1:c.*1426_*1433del, NM_001370413.1:c.*1429_*1433del, NM_001370413.1:c.*1430_*1433del, NM_001370413.1:c.*1431_*1433del, NM_001370413.1:c.*1432_*1433del, NM_001370413.1:c.*1433del, NM_001370413.1:c.*1433dup, NM_001370413.1:c.*1432_*1433dup, NM_001370413.1:c.*1431_*1433dup, NM_001370413.1:c.*1430_*1433dup, NM_001370413.1:c.*1429_*1433dup, NM_001370411.1:c.*1426_*1433del, NM_001370411.1:c.*1429_*1433del, NM_001370411.1:c.*1430_*1433del, NM_001370411.1:c.*1431_*1433del, NM_001370411.1:c.*1432_*1433del, NM_001370411.1:c.*1433del, NM_001370411.1:c.*1433dup, NM_001370411.1:c.*1432_*1433dup, NM_001370411.1:c.*1431_*1433dup, NM_001370411.1:c.*1430_*1433dup, NM_001370411.1:c.*1429_*1433dup, NM_001370412.1:c.*1426_*1433del, NM_001370412.1:c.*1429_*1433del, NM_001370412.1:c.*1430_*1433del, NM_001370412.1:c.*1431_*1433del, NM_001370412.1:c.*1432_*1433del, NM_001370412.1:c.*1433del, NM_001370412.1:c.*1433dup, NM_001370412.1:c.*1432_*1433dup, NM_001370412.1:c.*1431_*1433dup, NM_001370412.1:c.*1430_*1433dup, NM_001370412.1:c.*1429_*1433dup, NM_001242856.1:c.*1426_*1433del, NM_001242856.1:c.*1429_*1433del, NM_001242856.1:c.*1430_*1433del, NM_001242856.1:c.*1431_*1433del, NM_001242856.1:c.*1432_*1433del, NM_001242856.1:c.*1433del, NM_001242856.1:c.*1433dup, NM_001242856.1:c.*1432_*1433dup, NM_001242856.1:c.*1431_*1433dup, NM_001242856.1:c.*1430_*1433dup, NM_001242856.1:c.*1429_*1433dup, NR_164825.1:n.2474_2481del, NR_164825.1:n.2477_2481del, NR_164825.1:n.2478_2481del, NR_164825.1:n.2479_2481del, NR_164825.1:n.2480_2481del, NR_164825.1:n.2481del, NR_164825.1:n.2481dup, NR_164825.1:n.2480_2481dup, NR_164825.1:n.2479_2481dup, NR_164825.1:n.2478_2481dup, NR_164825.1:n.2477_2481dup, NM_001376564.1:c.*1426_*1433del, NM_001376564.1:c.*1429_*1433del, NM_001376564.1:c.*1430_*1433del, NM_001376564.1:c.*1431_*1433del, NM_001376564.1:c.*1432_*1433del, NM_001376564.1:c.*1433del, NM_001376564.1:c.*1433dup, NM_001376564.1:c.*1432_*1433dup, NM_001376564.1:c.*1431_*1433dup, NM_001376564.1:c.*1430_*1433dup, NM_001376564.1:c.*1429_*1433dup, NR_163423.1:n.2434_2441del, NR_163423.1:n.2437_2441del, NR_163423.1:n.2438_2441del, NR_163423.1:n.2439_2441del, NR_163423.1:n.2440_2441del, NR_163423.1:n.2441del, NR_163423.1:n.2441dup, NR_163423.1:n.2440_2441dup, NR_163423.1:n.2439_2441dup, NR_163423.1:n.2438_2441dup, NR_163423.1:n.2437_2441dup

Select item 14908805853.

rs1490880585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6475120 (GRCh38)
11:6496350 (GRCh37)
Canonical SPDI:: NC_000011.10:6475119:G:C
Gene:: TRIM3 (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=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.6475120G>C, NC_000011.9:g.6496350G>C, NM_012402.4:c.*1993C>G, NM_012402.3:c.*1993C>G, NM_001242854.2:c.*1993C>G, NM_001242855.2:c.*1993C>G, NM_001242856.2:c.*1993C>G, NM_001242854.1:c.*1993C>G, NR_164826.1:n.3347C>G, NM_001376561.1:c.*2203C>G, NR_163424.1:n.3236C>G, NM_001370408.1:c.*1993C>G, NM_001376562.1:c.*1993C>G, NM_001242855.1:c.*1993C>G, NM_001376558.1:c.*1993C>G, NM_001376559.1:c.*1993C>G, NM_001376560.1:c.*1993C>G, NM_001370409.1:c.*1993C>G, NM_001376563.1:c.*1993C>G, NM_001370406.1:c.*1993C>G, NM_001370413.1:c.*1993C>G, NM_001370411.1:c.*1993C>G, NM_001370412.1:c.*1993C>G, NM_001242856.1:c.*1993C>G, NR_164825.1:n.3041C>G, NM_001376564.1:c.*1993C>G, NR_163423.1:n.3001C>G

Select item 14905916984.

rs1490591698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6480791 (GRCh38)
11:6502021 (GRCh37)
Canonical SPDI:: NC_000011.10:6480790:G:T
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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.6480791G>T, NC_000011.9:g.6502021G>T, XM_047426687.1:c.-370C>A

Select item 14905569115.

rs1490556911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6481447 (GRCh38)
11:6502677 (GRCh37)
Canonical SPDI:: NC_000011.10:6481446:G:A,NC_000011.10:6481446:G:T
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000011.10:g.6481447G>A, NC_000011.10:g.6481447G>T, NC_000011.9:g.6502677G>A, NC_000011.9:g.6502677G>T, NM_012402.3:c.-219C>T, NM_012402.3:c.-219C>A, NM_012192.3:c.-70G>A, NM_012192.3:c.-70G>T, NM_001242854.1:c.-259C>T, NM_001242854.1:c.-259C>A, NM_001242855.1:c.-232C>T, NM_001242855.1:c.-232C>A, NM_001242856.1:c.-254C>T, NM_001242856.1:c.-254C>A

Select item 14902284776.

rs1490228477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6482157 (GRCh38)
11:6503387 (GRCh37)
Canonical SPDI:: NC_000011.10:6482156:A:C
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,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.6482157A>C, NC_000011.9:g.6503387A>C, NM_012192.4:c.248A>C, NM_012192.3:c.248A>C, NP_036324.1:p.Glu83Ala

Select item 14900379317.

rs1490037931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6477227 (GRCh38)
11:6498457 (GRCh37)
Canonical SPDI:: NC_000011.10:6477226:A:G
Gene:: ARFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6477227A>G, NC_000011.9:g.6498457A>G, NM_012402.5:c.912T>C, NM_012402.4:c.912T>C, NM_012402.3:c.912T>C, NM_001242854.3:c.1011T>C, NM_001242854.2:c.1011T>C, NM_001242854.1:c.1011T>C, NM_001242855.3:c.798T>C, NM_001242855.2:c.798T>C, NM_001242855.1:c.798T>C, NM_001242856.3:c.657T>C, NM_001242856.2:c.657T>C, NM_001242856.1:c.657T>C, NR_164826.2:n.1240T>C, NR_164826.1:n.1240T>C, NM_001376561.2:c.*96T>C, NM_001376561.1:c.*96T>C, NR_163424.2:n.1129T>C, NR_163424.1:n.1129T>C, NM_001370408.2:c.798T>C, NM_001370408.1:c.798T>C, NM_001376562.2:c.828T>C, NM_001376562.1:c.828T>C, NM_001376558.2:c.912T>C, NM_001376558.1:c.912T>C, NM_001376559.2:c.909T>C, NM_001376559.1:c.909T>C, NM_001376560.2:c.906T>C, NM_001376560.1:c.906T>C, NM_001370409.2:c.897T>C, NM_001370409.1:c.897T>C, NM_001376563.2:c.798T>C, NM_001376563.1:c.798T>C, NM_001370406.2:c.909T>C, NM_001370406.1:c.909T>C, NM_001370413.2:c.864T>C, NM_001370413.1:c.864T>C, NM_001370411.2:c.897T>C, NM_001370411.1:c.897T>C, NM_001370412.2:c.864T>C, NM_001370412.1:c.864T>C, NR_164825.2:n.934T>C, NR_164825.1:n.934T>C, NM_001376564.2:c.795T>C, NM_001376564.1:c.795T>C, NR_163423.2:n.894T>C, NR_163423.1:n.894T>C

Select item 14899944008.

rs1489994400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:6474501 (GRCh38)
11:6495731 (GRCh37)
Canonical SPDI:: NC_000011.10:6474500:G:A,NC_000011.10:6474500:G:C
Gene:: TRIM3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000283/5 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.6474501G>A, NC_000011.10:g.6474501G>C, NC_000011.9:g.6495731G>A, NC_000011.9:g.6495731G>C

Select item 14899387699.

rs1489938769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6483025 (GRCh38)
11:6504255 (GRCh37)
Canonical SPDI:: NC_000011.10:6483024:G:A
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6483025G>A, NC_000011.9:g.6504255G>A, NM_012192.4:c.*804G>A, NM_012192.3:c.*804G>A

Select item 148988249210.

rs1489882492 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 11:6480938 (GRCh38)
11:6502168 (GRCh37)
Canonical SPDI:: NC_000011.10:6480937:GGGGG:GGGG,NC_000011.10:6480937:GGGGG:GGGGGG
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.6480942del, NC_000011.10:g.6480942dup, NC_000011.9:g.6502172del, NC_000011.9:g.6502172dup, XM_047426687.1:c.-517del, XM_047426687.1:c.-517dup

Select item 148985204211.

rs1489852042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:6482670 (GRCh38)
11:6503900 (GRCh37)
Canonical SPDI:: NC_000011.10:6482669:A:T
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.6482670A>T, NC_000011.9:g.6503900A>T, NM_012192.4:c.*449A>T, NM_012192.3:c.*449A>T

Select item 148855666812.

rs1488556668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:6475009 (GRCh38)
11:6496239 (GRCh37)
Canonical SPDI:: NC_000011.10:6475008:T:G
Gene:: TRIM3 (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.6475009T>G, NC_000011.9:g.6496239T>G, NM_012402.4:c.*2104A>C, NM_012402.3:c.*2104A>C, NM_001242854.2:c.*2104A>C, NM_001242855.2:c.*2104A>C, NM_001242856.2:c.*2104A>C, NM_001242854.1:c.*2104A>C, NR_164826.1:n.3458A>C, NM_001376561.1:c.*2314A>C, NR_163424.1:n.3347A>C, NM_001370408.1:c.*2104A>C, NM_001376562.1:c.*2104A>C, NM_001242855.1:c.*2104A>C, NM_001376558.1:c.*2104A>C, NM_001376559.1:c.*2104A>C, NM_001376560.1:c.*2104A>C, NM_001370409.1:c.*2104A>C, NM_001376563.1:c.*2104A>C, NM_001370406.1:c.*2104A>C, NM_001370413.1:c.*2104A>C, NM_001370411.1:c.*2104A>C, NM_001370412.1:c.*2104A>C, NM_001242856.1:c.*2104A>C, NR_164825.1:n.3152A>C, NM_001376564.1:c.*2104A>C, NR_163423.1:n.3112A>C

Select item 148834545513.

rs1488345455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6479909 (GRCh38)
11:6501139 (GRCh37)
Canonical SPDI:: NC_000011.10:6479908:T:C
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6479909T>C, NC_000011.9:g.6501139T>C

Select item 148831420714.

rs1488314207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:6478592 (GRCh38)
11:6499822 (GRCh37)
Canonical SPDI:: NC_000011.10:6478591:C:A,NC_000011.10:6478591:C:T
Gene:: ARFIP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.6478592C>A, NC_000011.10:g.6478592C>T, NC_000011.9:g.6499822C>A, NC_000011.9:g.6499822C>T, NR_164826.2:n.852G>T, NR_164826.2:n.852G>A, NR_164826.1:n.852G>T, NR_164826.1:n.852G>A, NR_163424.2:n.741G>T, NR_163424.2:n.741G>A, NR_163424.1:n.741G>T, NR_163424.1:n.741G>A

Select item 148799936115.

rs1487999361 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>- [Show Flanks]
Chromosome:: 11:6478975 (GRCh38)
11:6500205 (GRCh37)
Canonical SPDI:: NC_000011.10:6478972:GGGGG:GG
Gene:: ARFIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6478975_6478977del, NC_000011.9:g.6500205_6500207del

Select item 148771745316.

rs1487717453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6475978 (GRCh38)
11:6497208 (GRCh37)
Canonical SPDI:: NC_000011.10:6475977:C:T
Gene:: TRIM3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.6475978C>T, NC_000011.9:g.6497208C>T, NM_012402.4:c.*1135G>A, NM_012402.3:c.*1135G>A, NM_001242854.2:c.*1135G>A, NM_001242855.2:c.*1135G>A, NM_001242856.2:c.*1135G>A, NM_001242854.1:c.*1135G>A, NR_164826.1:n.2489G>A, NM_001376561.1:c.*1345G>A, NR_163424.1:n.2378G>A, NM_001370408.1:c.*1135G>A, NM_001376562.1:c.*1135G>A, NM_001242855.1:c.*1135G>A, NM_001376558.1:c.*1135G>A, NM_001376559.1:c.*1135G>A, NM_001376560.1:c.*1135G>A, NM_001370409.1:c.*1135G>A, NM_001376563.1:c.*1135G>A, NM_001370406.1:c.*1135G>A, NM_001370413.1:c.*1135G>A, NM_001370411.1:c.*1135G>A, NM_001370412.1:c.*1135G>A, NM_001242856.1:c.*1135G>A, NR_164825.1:n.2183G>A, NM_001376564.1:c.*1135G>A, NR_163423.1:n.2143G>A

Select item 148733371117.

rs1487333711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6481155 (GRCh38)
11:6502385 (GRCh37)
Canonical SPDI:: NC_000011.10:6481154:C:G
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6481155C>G, NC_000011.9:g.6502385C>G, XM_047426687.1:c.-734G>C

Select item 148720114418.

rs1487201144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6480245 (GRCh38)
11:6501475 (GRCh37)
Canonical SPDI:: NC_000011.10:6480244:T:C
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6480245T>C, NC_000011.9:g.6501475T>C

Select item 148709377619.

rs1487093776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6474484 (GRCh38)
11:6495714 (GRCh37)
Canonical SPDI:: NC_000011.10:6474483:A:G
Gene:: TRIM3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6474484A>G, NC_000011.9:g.6495714A>G

Select item 148705673020.

rs1487056730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6476256 (GRCh38)
11:6497486 (GRCh37)
Canonical SPDI:: NC_000011.10:6476255:T:C
Gene:: TRIM3 (Varview), ARFIP2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,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.6476256T>C, NC_000011.9:g.6497486T>C, NM_012402.4:c.*857A>G, NM_012402.3:c.*857A>G, NM_001242854.2:c.*857A>G, NM_001242855.2:c.*857A>G, NM_001242856.2:c.*857A>G, NM_001242854.1:c.*857A>G, NR_164826.1:n.2211A>G, NM_001376561.1:c.*1067A>G, NR_163424.1:n.2100A>G, NM_001370408.1:c.*857A>G, NM_001376562.1:c.*857A>G, NM_001242855.1:c.*857A>G, NM_001376558.1:c.*857A>G, NM_001376559.1:c.*857A>G, NM_001376560.1:c.*857A>G, NM_001370409.1:c.*857A>G, NM_001376563.1:c.*857A>G, NM_001370406.1:c.*857A>G, NM_001370413.1:c.*857A>G, NM_001370411.1:c.*857A>G, NM_001370412.1:c.*857A>G, NM_001242856.1:c.*857A>G, NR_164825.1:n.1905A>G, NM_001376564.1:c.*857A>G, NR_163423.1:n.1865A>G

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