SNP Links for Gene (Select 286827) - SNP

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Select item 14915170851.

rs1491517085 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:160445773 (GRCh38)
3:160163561 (GRCh37)
Canonical SPDI:: NC_000003.12:160445772:CA:
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.160445773_160445774del, NC_000003.11:g.160163561_160163562del

Select item 14912907062.

rs1491290706 has merged into rs75175042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:160445785 (GRCh38)
3:160163573 (GRCh37)
Canonical SPDI:: NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160445773:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.160445785_160445794del, NC_000003.12:g.160445786_160445794del, NC_000003.12:g.160445787_160445794del, NC_000003.12:g.160445788_160445794del, NC_000003.12:g.160445789_160445794del, NC_000003.12:g.160445790_160445794del, NC_000003.12:g.160445791_160445794del, NC_000003.12:g.160445792_160445794del, NC_000003.12:g.160445793_160445794del, NC_000003.12:g.160445794del, NC_000003.12:g.160445794dup, NC_000003.12:g.160445793_160445794dup, NC_000003.12:g.160445792_160445794dup, NC_000003.12:g.160445788_160445794dup, NC_000003.11:g.160163573_160163582del, NC_000003.11:g.160163574_160163582del, NC_000003.11:g.160163575_160163582del, NC_000003.11:g.160163576_160163582del, NC_000003.11:g.160163577_160163582del, NC_000003.11:g.160163578_160163582del, NC_000003.11:g.160163579_160163582del, NC_000003.11:g.160163580_160163582del, NC_000003.11:g.160163581_160163582del, NC_000003.11:g.160163582del, NC_000003.11:g.160163582dup, NC_000003.11:g.160163581_160163582dup, NC_000003.11:g.160163580_160163582dup, NC_000003.11:g.160163576_160163582dup

Select item 14909701443.

rs1490970144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:160442583 (GRCh38)
3:160160371 (GRCh37)
Canonical SPDI:: NC_000003.12:160442582:A:C,NC_000003.12:160442582:A:T
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160442583A>C, NC_000003.12:g.160442583A>T, NC_000003.11:g.160160371A>C, NC_000003.11:g.160160371A>T

Select item 14907788694.

rs1490778869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160437480 (GRCh38)
3:160155268 (GRCh37)
Canonical SPDI:: NC_000003.12:160437479:A:G
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160437480A>G, NC_000003.11:g.160155268A>G, NM_173084.3:c.*492T>C, NM_173084.2:c.*492T>C

Select item 14907678205.

rs1490767820 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 3:160435728 (GRCh38)
3:160153517 (GRCh37)
Canonical SPDI:: NC_000003.12:160435728:ATATATATA:ATATATATATA
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.000007/1 (GnomAD)
AT=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.160435730TA[5], NC_000003.11:g.160153518TA[5], NG_050987.1:g.41427TA[5], NM_173084.3:c.*2236AT[5], NM_173084.2:c.*2236AT[5]

Select item 14907027666.

rs1490702766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160451456 (GRCh38)
3:160169244 (GRCh37)
Canonical SPDI:: NC_000003.12:160451455:G:A
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.160451456G>A, NC_000003.11:g.160169244G>A

Select item 14906872447.

rs1490687244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:160450517 (GRCh38)
3:160168305 (GRCh37)
Canonical SPDI:: NC_000003.12:160450516:T:G
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.160450517T>G, NC_000003.11:g.160168305T>G

Select item 14904018798.

rs1490401879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160445310 (GRCh38)
3:160163098 (GRCh37)
Canonical SPDI:: NC_000003.12:160445309:G:A
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.160445310G>A, NC_000003.11:g.160163098G>A

Select item 14901534139.

rs1490153413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:160442172 (GRCh38)
3:160159960 (GRCh37)
Canonical SPDI:: NC_000003.12:160442171:C:A
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160442172C>A, NC_000003.11:g.160159960C>A

Select item 148995982110.

rs1489959821 [Homo sapiens]

Variant type:: SNV:
Alleles:: AAGA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148906317811.

rs1489063178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160446154 (GRCh38)
3:160163942 (GRCh37)
Canonical SPDI:: NC_000003.12:160446153:G:A
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160446154G>A, NC_000003.11:g.160163942G>A

Select item 148861379412.

rs1488613794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:160446273 (GRCh38)
3:160164061 (GRCh37)
Canonical SPDI:: NC_000003.12:160446272:A:T
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_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_000003.12:g.160446273A>T, NC_000003.11:g.160164061A>T

Select item 148817704213.

rs1488177042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160441173 (GRCh38)
3:160158961 (GRCh37)
Canonical SPDI:: NC_000003.12:160441172:T:C
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.160441173T>C, NC_000003.11:g.160158961T>C

Select item 148810900614.

rs1488109006 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:160436797 (GRCh38)
3:160154585 (GRCh37)
Canonical SPDI:: NC_000003.12:160436796:C:
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.160436797del, NC_000003.11:g.160154585del, NG_050987.1:g.42494del, NM_173084.3:c.*1175del, NM_173084.2:c.*1175del

Select item 148776194715.

rs1487761947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160438815 (GRCh38)
3:160156603 (GRCh37)
Canonical SPDI:: NC_000003.12:160438814:T:C
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160438815T>C, NC_000003.11:g.160156603T>C, NM_173084.3:c.369A>G, NM_173084.2:c.369A>G, NR_148403.1:n.761A>G, NR_148402.1:n.494A>G, NR_148401.1:n.564A>G, NP_775107.1:p.Ile123Met

Select item 148768716416.

rs1487687164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160448563 (GRCh38)
3:160166351 (GRCh37)
Canonical SPDI:: NC_000003.12:160448562:T:C
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_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_000003.12:g.160448563T>C, NC_000003.11:g.160166351T>C

Select item 148756318417.

rs1487563184 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:160437484 (GRCh38)
3:160155272 (GRCh37)
Canonical SPDI:: NC_000003.12:160437483:T:
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.160437484del, NC_000003.11:g.160155272del, NM_173084.3:c.*488del, NM_173084.2:c.*488del

Select item 148751169118.

rs1487511691 has merged into rs751543768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:160436808 (GRCh38)
3:160154596 (GRCh37)
Canonical SPDI:: NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:160436797:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000003.12:g.160436808_160436825del, NC_000003.12:g.160436810_160436825del, NC_000003.12:g.160436811_160436825del, NC_000003.12:g.160436812_160436825del, NC_000003.12:g.160436813_160436825del, NC_000003.12:g.160436814_160436825del, NC_000003.12:g.160436815_160436825del, NC_000003.12:g.160436816_160436825del, NC_000003.12:g.160436817_160436825del, NC_000003.12:g.160436818_160436825del, NC_000003.12:g.160436819_160436825del, NC_000003.12:g.160436820_160436825del, NC_000003.12:g.160436821_160436825del, NC_000003.12:g.160436822_160436825del, NC_000003.12:g.160436823_160436825del, NC_000003.12:g.160436824_160436825del, NC_000003.12:g.160436825del, NC_000003.12:g.160436825dup, NC_000003.12:g.160436824_160436825dup, NC_000003.12:g.160436823_160436825dup, NC_000003.12:g.160436822_160436825dup, NC_000003.12:g.160436821_160436825dup, NC_000003.12:g.160436820_160436825dup, NC_000003.12:g.160436819_160436825dup, NC_000003.12:g.160436818_160436825dup, NC_000003.12:g.160436817_160436825dup, NC_000003.12:g.160436813_160436825dup, NC_000003.12:g.160436812_160436825dup, NC_000003.12:g.160436825_160436826insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.160436825_160436826insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.160154596_160154613del, NC_000003.11:g.160154598_160154613del, NC_000003.11:g.160154599_160154613del, NC_000003.11:g.160154600_160154613del, NC_000003.11:g.160154601_160154613del, NC_000003.11:g.160154602_160154613del, NC_000003.11:g.160154603_160154613del, NC_000003.11:g.160154604_160154613del, NC_000003.11:g.160154605_160154613del, NC_000003.11:g.160154606_160154613del, NC_000003.11:g.160154607_160154613del, NC_000003.11:g.160154608_160154613del, NC_000003.11:g.160154609_160154613del, NC_000003.11:g.160154610_160154613del, NC_000003.11:g.160154611_160154613del, NC_000003.11:g.160154612_160154613del, NC_000003.11:g.160154613del, NC_000003.11:g.160154613dup, NC_000003.11:g.160154612_160154613dup, NC_000003.11:g.160154611_160154613dup, NC_000003.11:g.160154610_160154613dup, NC_000003.11:g.160154609_160154613dup, NC_000003.11:g.160154608_160154613dup, NC_000003.11:g.160154607_160154613dup, NC_000003.11:g.160154606_160154613dup, NC_000003.11:g.160154605_160154613dup, NC_000003.11:g.160154601_160154613dup, NC_000003.11:g.160154600_160154613dup, NC_000003.11:g.160154613_160154614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.160154613_160154614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050987.1:g.42505_42522del, NG_050987.1:g.42507_42522del, NG_050987.1:g.42508_42522del, NG_050987.1:g.42509_42522del, NG_050987.1:g.42510_42522del, NG_050987.1:g.42511_42522del, NG_050987.1:g.42512_42522del, NG_050987.1:g.42513_42522del, NG_050987.1:g.42514_42522del, NG_050987.1:g.42515_42522del, NG_050987.1:g.42516_42522del, NG_050987.1:g.42517_42522del, NG_050987.1:g.42518_42522del, NG_050987.1:g.42519_42522del, NG_050987.1:g.42520_42522del, NG_050987.1:g.42521_42522del, NG_050987.1:g.42522del, NG_050987.1:g.42522dup, NG_050987.1:g.42521_42522dup, NG_050987.1:g.42520_42522dup, NG_050987.1:g.42519_42522dup, NG_050987.1:g.42518_42522dup, NG_050987.1:g.42517_42522dup, NG_050987.1:g.42516_42522dup, NG_050987.1:g.42515_42522dup, NG_050987.1:g.42514_42522dup, NG_050987.1:g.42510_42522dup, NG_050987.1:g.42509_42522dup, NG_050987.1:g.42522_42523insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050987.1:g.42522_42523insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_173084.3:c.*1157_*1174del, NM_173084.3:c.*1159_*1174del, NM_173084.3:c.*1160_*1174del, NM_173084.3:c.*1161_*1174del, NM_173084.3:c.*1162_*1174del, NM_173084.3:c.*1163_*1174del, NM_173084.3:c.*1164_*1174del, NM_173084.3:c.*1165_*1174del, NM_173084.3:c.*1166_*1174del, NM_173084.3:c.*1167_*1174del, NM_173084.3:c.*1168_*1174del, NM_173084.3:c.*1169_*1174del, NM_173084.3:c.*1170_*1174del, NM_173084.3:c.*1171_*1174del, NM_173084.3:c.*1172_*1174del, NM_173084.3:c.*1173_*1174del, NM_173084.3:c.*1174del, NM_173084.3:c.*1174dup, NM_173084.3:c.*1173_*1174dup, NM_173084.3:c.*1172_*1174dup, NM_173084.3:c.*1171_*1174dup, NM_173084.3:c.*1170_*1174dup, NM_173084.3:c.*1169_*1174dup, NM_173084.3:c.*1168_*1174dup, NM_173084.3:c.*1167_*1174dup, NM_173084.3:c.*1166_*1174dup, NM_173084.3:c.*1162_*1174dup, NM_173084.3:c.*1161_*1174dup, NM_173084.3:c.*1174_*1175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_173084.3:c.*1174_*1175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_173084.2:c.*1157_*1174del, NM_173084.2:c.*1159_*1174del, NM_173084.2:c.*1160_*1174del, NM_173084.2:c.*1161_*1174del, NM_173084.2:c.*1162_*1174del, NM_173084.2:c.*1163_*1174del, NM_173084.2:c.*1164_*1174del, NM_173084.2:c.*1165_*1174del, NM_173084.2:c.*1166_*1174del, NM_173084.2:c.*1167_*1174del, NM_173084.2:c.*1168_*1174del, NM_173084.2:c.*1169_*1174del, NM_173084.2:c.*1170_*1174del, NM_173084.2:c.*1171_*1174del, NM_173084.2:c.*1172_*1174del, NM_173084.2:c.*1173_*1174del, NM_173084.2:c.*1174del, NM_173084.2:c.*1174dup, NM_173084.2:c.*1173_*1174dup, NM_173084.2:c.*1172_*1174dup, NM_173084.2:c.*1171_*1174dup, NM_173084.2:c.*1170_*1174dup, NM_173084.2:c.*1169_*1174dup, NM_173084.2:c.*1168_*1174dup, NM_173084.2:c.*1167_*1174dup, NM_173084.2:c.*1166_*1174dup, NM_173084.2:c.*1162_*1174dup, NM_173084.2:c.*1161_*1174dup, NM_173084.2:c.*1174_*1175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_173084.2:c.*1174_*1175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148745122419.

rs1487451224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:160450857 (GRCh38)
3:160168645 (GRCh37)
Canonical SPDI:: NC_000003.12:160450856:G:T
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.160450857G>T, NC_000003.11:g.160168645G>T

Select item 148741554920.

rs1487415549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:160445747 (GRCh38)
3:160163535 (GRCh37)
Canonical SPDI:: NC_000003.12:160445746:C:G
Gene:: TRIM59 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.160445747C>G, NC_000003.11:g.160163535C>G

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