SNP Links for Gene (Select 287015) - SNP

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Select item 14915644431.

rs1491564443 has merged into rs772925740 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGATAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 3:140692568 (GRCh38)
3:140411410 (GRCh37)
Canonical SPDI:: NC_000003.12:140692562:AGAGAGAGA:AGAGA,NC_000003.12:140692562:AGAGAGAGA:AGAGAGA,NC_000003.12:140692562:AGAGAGAGA:AGAGAGAGAGA,NC_000003.12:140692562:AGAGAGAGA:AGAGAGAGAGAGA,NC_000003.12:140692562:AGAGAGAGA:AGAGAGAGAGAGAGA,NC_000003.12:140692562:AGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000003.12:140692562:AGAGAGAGA:AGAGAGAGAGATAGAGAGAGAGAGAGAGA
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
HGVS:: NC_000003.12:g.140692564GA[2], NC_000003.12:g.140692564GA[3], NC_000003.12:g.140692564GA[5], NC_000003.12:g.140692564GA[6], NC_000003.12:g.140692564GA[7], NC_000003.12:g.140692564GA[8], NC_000003.12:g.140692563_140692571AG[5]ATAGAGAGAGAGAGAGAGA[1], NC_000003.11:g.140411406GA[2], NC_000003.11:g.140411406GA[3], NC_000003.11:g.140411406GA[5], NC_000003.11:g.140411406GA[6], NC_000003.11:g.140411406GA[7], NC_000003.11:g.140411406GA[8], NC_000003.11:g.140411405_140411413AG[5]ATAGAGAGAGAGAGAGAGA[1]

Select item 14910304752.

rs1491030475 has merged into rs11369639 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 3:140681878 (GRCh38)
3:140400720 (GRCh37)
Canonical SPDI:: NC_000003.12:140681867:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:140681867:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:140681867:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:140681867:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:140681867:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:140681867:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:140681867:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1961/642 (1000Genomes)
A=0.2751/1020 (TWINSUK)
A=0.2815/1085 (ALSPAC)
HGVS:: NC_000003.12:g.140681878_140681880del, NC_000003.12:g.140681879_140681880del, NC_000003.12:g.140681880del, NC_000003.12:g.140681880dup, NC_000003.12:g.140681879_140681880dup, NC_000003.12:g.140681878_140681880dup, NC_000003.12:g.140681875_140681880dup, NC_000003.11:g.140400720_140400722del, NC_000003.11:g.140400721_140400722del, NC_000003.11:g.140400722del, NC_000003.11:g.140400722dup, NC_000003.11:g.140400721_140400722dup, NC_000003.11:g.140400720_140400722dup, NC_000003.11:g.140400717_140400722dup

Select item 14909245993.

rs1490924599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:140683215 (GRCh38)
3:140402057 (GRCh37)
Canonical SPDI:: NC_000003.12:140683214:A:G
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.140683215A>G, NC_000003.11:g.140402057A>G

Select item 14907020074.

rs1490702007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:140697408 (GRCh38)
3:140416250 (GRCh37)
Canonical SPDI:: NC_000003.12:140697407:C:A
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000885/15 (TOMMO)
HGVS:: NC_000003.12:g.140697408C>A, NC_000003.11:g.140416250C>A

Select item 14906878005.

rs1490687800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:140697322 (GRCh38)
3:140416164 (GRCh37)
Canonical SPDI:: NC_000003.12:140697321:A:G
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_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_000003.12:g.140697322A>G, NC_000003.11:g.140416164A>G

Select item 14905262196.

rs1490526219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:140681797 (GRCh38)
3:140400639 (GRCh37)
Canonical SPDI:: NC_000003.12:140681796:A:T
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_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_000003.12:g.140681797A>T, NC_000003.11:g.140400639A>T

Select item 14905228507.

rs1490522850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:140697738 (GRCh38)
3:140416580 (GRCh37)
Canonical SPDI:: NC_000003.12:140697737:C:A
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.140697738C>A, NC_000003.11:g.140416580C>A

Select item 14902638258.

rs1490263825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:140682193 (GRCh38)
3:140401035 (GRCh37)
Canonical SPDI:: NC_000003.12:140682192:T:C
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.140682193T>C, NC_000003.11:g.140401035T>C

Select item 14899312829.

rs1489931282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:140689966 (GRCh38)
3:140408808 (GRCh37)
Canonical SPDI:: NC_000003.12:140689965:T:G
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.140689966T>G, NC_000003.11:g.140408808T>G

Select item 148980372010.

rs1489803720 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148974609911.

rs1489746099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:140699257 (GRCh38)
3:140418099 (GRCh37)
Canonical SPDI:: NC_000003.12:140699256:A:G
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.140699257A>G, NC_000003.11:g.140418099A>G

Select item 148964700512.

rs1489647005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:140682964 (GRCh38)
3:140401806 (GRCh37)
Canonical SPDI:: NC_000003.12:140682963:G:A,NC_000003.12:140682963:G:C
Gene:: TRIM42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000109/3 (ALFA)
A=0.000016/4 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.140682964G>A, NC_000003.12:g.140682964G>C, NC_000003.11:g.140401806G>A, NC_000003.11:g.140401806G>C, NM_152616.5:c.844G>A, NM_152616.5:c.844G>C, NM_152616.4:c.844G>A, NM_152616.4:c.844G>C, XM_011512740.4:c.844G>A, XM_011512740.4:c.844G>C, XM_011512740.3:c.844G>A, XM_011512740.3:c.844G>C, XM_011512740.2:c.844G>A, XM_011512740.2:c.844G>C, XM_011512740.1:c.844G>A, XM_011512740.1:c.844G>C, NP_689829.3:p.Ala282Thr, NP_689829.3:p.Ala282Pro, XP_011511042.1:p.Ala282Thr, XP_011511042.1:p.Ala282Pro

Select item 148963030013.

rs1489630300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:140690071 (GRCh38)
3:140408914 (GRCh37)
Canonical SPDI:: NC_000003.12:140690071:G:GG
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.140690072dup, NC_000003.11:g.140408914dup

Select item 148959391514.

rs1489593915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:140694993 (GRCh38)
3:140413835 (GRCh37)
Canonical SPDI:: NC_000003.12:140694992:C:T
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.140694993C>T, NC_000003.11:g.140413835C>T

Select item 148951417415.

rs1489514174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:140690660 (GRCh38)
3:140409502 (GRCh37)
Canonical SPDI:: NC_000003.12:140690659:G:A,NC_000003.12:140690659:G:T
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.140690660G>A, NC_000003.12:g.140690660G>T, NC_000003.11:g.140409502G>A, NC_000003.11:g.140409502G>T

Select item 148945336516.

rs1489453365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:140678438 (GRCh38)
3:140397280 (GRCh37)
Canonical SPDI:: NC_000003.12:140678437:G:A
Gene:: TRIM42 (Varview), LOC102724068 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.140678438G>A, NC_000003.11:g.140397280G>A, NM_152616.5:c.209G>A, NM_152616.4:c.209G>A, XM_011512740.4:c.209G>A, XM_011512740.3:c.209G>A, XM_011512740.2:c.209G>A, XM_011512740.1:c.209G>A, NP_689829.3:p.Trp70Ter, XP_011511042.1:p.Trp70Ter

Select item 148900921217.

rs1489009212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:140686309 (GRCh38)
3:140405151 (GRCh37)
Canonical SPDI:: NC_000003.12:140686308:C:A,NC_000003.12:140686308:C:G,NC_000003.12:140686308:C:T
Gene:: TRIM42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
A=0.00467/1 (Vietnamese)
HGVS:: NC_000003.12:g.140686309C>A, NC_000003.12:g.140686309C>G, NC_000003.12:g.140686309C>T, NC_000003.11:g.140405151C>A, NC_000003.11:g.140405151C>G, NC_000003.11:g.140405151C>T

Select item 148881580318.

rs1488815803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:140679739 (GRCh38)
3:140398581 (GRCh37)
Canonical SPDI:: NC_000003.12:140679738:A:G
Gene:: TRIM42 (Varview), LOC102724068 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.140679739A>G, NC_000003.11:g.140398581A>G

Select item 148878281019.

rs1488782810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:140701228 (GRCh38)
3:140420070 (GRCh37)
Canonical SPDI:: NC_000003.12:140701227:T:C
Gene:: TRIM42 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.140701228T>C, NC_000003.11:g.140420070T>C

Select item 148874564820.

rs1488745648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:140687906 (GRCh38)
3:140406748 (GRCh37)
Canonical SPDI:: NC_000003.12:140687905:A:C
Gene:: TRIM42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.140687906A>C, NC_000003.11:g.140406748A>C, NM_152616.5:c.1224A>C, NM_152616.4:c.1224A>C, XM_011512740.4:c.1224A>C, XM_011512740.3:c.1224A>C, XM_011512740.2:c.1224A>C, XM_011512740.1:c.1224A>C, NP_689829.3:p.Glu408Asp, XP_011511042.1:p.Glu408Asp

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