SNP Links for Gene (Select 116461) - SNP

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Select item 14914876801.

rs1491487680 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:184067924 (GRCh38)
1:184037058 (GRCh37)
Canonical SPDI:: NC_000001.11:184067923:CA:
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.184067924_184067925del, NC_000001.10:g.184037058_184037059del, NG_050569.1:g.21274_21275del

Select item 14912289552.

rs1491228955 has merged into rs200324927 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:184075917 (GRCh38)
1:184045051 (GRCh37)
Canonical SPDI:: NC_000001.11:184075910:TTTTTTTTTTT:TTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:184075910:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.184075917_184075921del, NC_000001.11:g.184075919_184075921del, NC_000001.11:g.184075920_184075921del, NC_000001.11:g.184075921del, NC_000001.11:g.184075921dup, NC_000001.11:g.184075920_184075921dup, NC_000001.11:g.184075919_184075921dup, NC_000001.11:g.184075918_184075921dup, NC_000001.11:g.184075917_184075921dup, NC_000001.11:g.184075916_184075921dup, NC_000001.11:g.184075915_184075921dup, NC_000001.10:g.184045051_184045055del, NC_000001.10:g.184045053_184045055del, NC_000001.10:g.184045054_184045055del, NC_000001.10:g.184045055del, NC_000001.10:g.184045055dup, NC_000001.10:g.184045054_184045055dup, NC_000001.10:g.184045053_184045055dup, NC_000001.10:g.184045052_184045055dup, NC_000001.10:g.184045051_184045055dup, NC_000001.10:g.184045050_184045055dup, NC_000001.10:g.184045049_184045055dup, NG_050569.1:g.29267_29271del, NG_050569.1:g.29269_29271del, NG_050569.1:g.29270_29271del, NG_050569.1:g.29271del, NG_050569.1:g.29271dup, NG_050569.1:g.29270_29271dup, NG_050569.1:g.29269_29271dup, NG_050569.1:g.29268_29271dup, NG_050569.1:g.29267_29271dup, NG_050569.1:g.29266_29271dup, NG_050569.1:g.29265_29271dup

Select item 14911646053.

rs1491164605 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:184085002 (GRCh38)
1:184054136 (GRCh37)
Canonical SPDI:: NC_000001.11:184085001:GG:
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00073/12 (ALFA)
HGVS:: NC_000001.11:g.184085002_184085003del, NC_000001.10:g.184054136_184054137del, NG_050569.1:g.38352_38353del

Select item 14911464614.

rs1491146461 has merged into rs71130650 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:184067937 (GRCh38)
1:184037071 (GRCh37)
Canonical SPDI:: NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.184067937_184067942del, NC_000001.11:g.184067938_184067942del, NC_000001.11:g.184067939_184067942del, NC_000001.11:g.184067940_184067942del, NC_000001.11:g.184067941_184067942del, NC_000001.11:g.184067942del, NC_000001.11:g.184067942dup, NC_000001.11:g.184067941_184067942dup, NC_000001.11:g.184067940_184067942dup, NC_000001.11:g.184067939_184067942dup, NC_000001.11:g.184067938_184067942dup, NC_000001.11:g.184067937_184067942dup, NC_000001.11:g.184067936_184067942dup, NC_000001.11:g.184067935_184067942dup, NC_000001.11:g.184067934_184067942dup, NC_000001.11:g.184067933_184067942dup, NC_000001.11:g.184067932_184067942dup, NC_000001.11:g.184067930_184067942dup, NC_000001.11:g.184067927_184067942dup, NC_000001.11:g.184067925_184067942dup, NC_000001.11:g.184067942_184067943insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.184067942_184067943insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.184037071_184037076del, NC_000001.10:g.184037072_184037076del, NC_000001.10:g.184037073_184037076del, NC_000001.10:g.184037074_184037076del, NC_000001.10:g.184037075_184037076del, NC_000001.10:g.184037076del, NC_000001.10:g.184037076dup, NC_000001.10:g.184037075_184037076dup, NC_000001.10:g.184037074_184037076dup, NC_000001.10:g.184037073_184037076dup, NC_000001.10:g.184037072_184037076dup, NC_000001.10:g.184037071_184037076dup, NC_000001.10:g.184037070_184037076dup, NC_000001.10:g.184037069_184037076dup, NC_000001.10:g.184037068_184037076dup, NC_000001.10:g.184037067_184037076dup, NC_000001.10:g.184037066_184037076dup, NC_000001.10:g.184037064_184037076dup, NC_000001.10:g.184037061_184037076dup, NC_000001.10:g.184037059_184037076dup, NC_000001.10:g.184037076_184037077insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.184037076_184037077insAAAAAAAAAAAAAAAAAAAAA, NG_050569.1:g.21287_21292del, NG_050569.1:g.21288_21292del, NG_050569.1:g.21289_21292del, NG_050569.1:g.21290_21292del, NG_050569.1:g.21291_21292del, NG_050569.1:g.21292del, NG_050569.1:g.21292dup, NG_050569.1:g.21291_21292dup, NG_050569.1:g.21290_21292dup, NG_050569.1:g.21289_21292dup, NG_050569.1:g.21288_21292dup, NG_050569.1:g.21287_21292dup, NG_050569.1:g.21286_21292dup, NG_050569.1:g.21285_21292dup, NG_050569.1:g.21284_21292dup, NG_050569.1:g.21283_21292dup, NG_050569.1:g.21282_21292dup, NG_050569.1:g.21280_21292dup, NG_050569.1:g.21277_21292dup, NG_050569.1:g.21275_21292dup, NG_050569.1:g.21292_21293insAAAAAAAAAAAAAAAAAAAA, NG_050569.1:g.21292_21293insAAAAAAAAAAAAAAAAAAAAA

Select item 14910739435.

rs1491073943 has merged into rs58463457 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 1:184067954 (GRCh38)
1:184037088 (GRCh37)
Canonical SPDI:: NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:184067941:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
ATAT=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.184067942AT[6], NC_000001.11:g.184067942AT[7], NC_000001.11:g.184067942AT[9], NC_000001.11:g.184067942AT[10], NC_000001.11:g.184067942AT[11], NC_000001.11:g.184067942AT[12], NC_000001.11:g.184067942AT[13], NC_000001.11:g.184067942AT[14], NC_000001.11:g.184067942AT[16], NC_000001.11:g.184067942AT[17], NC_000001.11:g.184067942AT[18], NC_000001.11:g.184067942AT[19], NC_000001.11:g.184067942AT[20], NC_000001.11:g.184067942AT[21], NC_000001.11:g.184067942AT[22], NC_000001.10:g.184037076AT[6], NC_000001.10:g.184037076AT[7], NC_000001.10:g.184037076AT[9], NC_000001.10:g.184037076AT[10], NC_000001.10:g.184037076AT[11], NC_000001.10:g.184037076AT[12], NC_000001.10:g.184037076AT[13], NC_000001.10:g.184037076AT[14], NC_000001.10:g.184037076AT[16], NC_000001.10:g.184037076AT[17], NC_000001.10:g.184037076AT[18], NC_000001.10:g.184037076AT[19], NC_000001.10:g.184037076AT[20], NC_000001.10:g.184037076AT[21], NC_000001.10:g.184037076AT[22], NG_050569.1:g.21292AT[6], NG_050569.1:g.21292AT[7], NG_050569.1:g.21292AT[9], NG_050569.1:g.21292AT[10], NG_050569.1:g.21292AT[11], NG_050569.1:g.21292AT[12], NG_050569.1:g.21292AT[13], NG_050569.1:g.21292AT[14], NG_050569.1:g.21292AT[16], NG_050569.1:g.21292AT[17], NG_050569.1:g.21292AT[18], NG_050569.1:g.21292AT[19], NG_050569.1:g.21292AT[20], NG_050569.1:g.21292AT[21], NG_050569.1:g.21292AT[22]

Select item 14909516006.

rs1490951600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:184088000 (GRCh38)
1:184057134 (GRCh37)
Canonical SPDI:: NC_000001.11:184087999:C:T
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.184088000C>T, NC_000001.10:g.184057134C>T, NG_050569.1:g.41350C>T

Select item 14908286807.

rs1490828680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:184070573 (GRCh38)
1:184039707 (GRCh37)
Canonical SPDI:: NC_000001.11:184070572:A:T
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.184070573A>T, NC_000001.10:g.184039707A>T, NG_050569.1:g.23923A>T

Select item 14907176708.

rs1490717670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:184070560 (GRCh38)
1:184039694 (GRCh37)
Canonical SPDI:: NC_000001.11:184070559:T:G
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.184070560T>G, NC_000001.10:g.184039694T>G, NG_050569.1:g.23910T>G

Select item 14905738779.

rs1490573877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:184083179 (GRCh38)
1:184052313 (GRCh37)
Canonical SPDI:: NC_000001.11:184083178:A:G
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.184083179A>G, NC_000001.10:g.184052313A>G, NG_050569.1:g.36529A>G

Select item 149051258510.

rs1490512585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:184051539 (GRCh38)
1:184020673 (GRCh37)
Canonical SPDI:: NC_000001.11:184051538:C:T
Gene:: TSEN15 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.184051539C>T, NC_000001.10:g.184020673C>T, NG_050569.1:g.4889C>T, NG_060370.1:g.125C>T

Select item 149050449311.

rs1490504493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:184090864 (GRCh38)
1:184059998 (GRCh37)
Canonical SPDI:: NC_000001.11:184090863:G:A
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.184090864G>A, NC_000001.10:g.184059998G>A, NG_050569.1:g.44214G>A

Select item 149048489512.

rs1490484895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:184089149 (GRCh38)
1:184058283 (GRCh37)
Canonical SPDI:: NC_000001.11:184089148:A:C,NC_000001.11:184089148:A:G
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.184089149A>C, NC_000001.11:g.184089149A>G, NC_000001.10:g.184058283A>C, NC_000001.10:g.184058283A>G, NG_050569.1:g.42499A>C, NG_050569.1:g.42499A>G

Select item 149046560913.

rs1490465609 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTACGTGTCTTAAGTAAC>- [Show Flanks]
Chromosome:: 1:184073442 (GRCh38)
1:184042576 (GRCh37)
Canonical SPDI:: NC_000001.11:184073427:GTGTCTTAAGTAACTTACGTGTCTTAAGTAAC:GTGTCTTAAGTAAC
Gene:: TSEN15 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTCTTAAGTAAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.184073442_184073459del, NC_000001.10:g.184042576_184042593del, NG_050569.1:g.26792_26809del, NM_052965.4:c.*595_*612del, NM_052965.3:c.*595_*612del, NM_052965.2:c.*595_*612del, NM_001127394.4:c.*579_*596del, NM_001127394.3:c.*579_*596del, NM_001127394.2:c.*579_*596del, NR_023349.3:n.1254_1271del, NR_023349.2:n.1333_1350del, NR_023349.1:n.1308_1325del, NR_125335.2:n.1217_1234del, NR_125335.1:n.1296_1313del, NM_001300764.2:c.*595_*612del, NM_001300764.1:c.*595_*612del, NM_001300766.2:c.*602_*619del, NM_001300766.1:c.*602_*619del

Select item 149045790114.

rs1490457901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:184058496 (GRCh38)
1:184027630 (GRCh37)
Canonical SPDI:: NC_000001.11:184058495:G:A
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_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_000001.11:g.184058496G>A, NC_000001.10:g.184027630G>A, NG_050569.1:g.11846G>A

Select item 149031825515.

rs1490318255 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 1:184075910 (GRCh38)
1:184045044 (GRCh37)
Canonical SPDI:: NC_000001.11:184075908:TATT:T
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00007/6 (GnomAD)
HGVS:: NC_000001.11:g.184075910_184075912del, NC_000001.10:g.184045044_184045046del, NG_050569.1:g.29260_29262del

Select item 149026433316.

rs1490264333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:184093466 (GRCh38)
1:184062600 (GRCh37)
Canonical SPDI:: NC_000001.11:184093465:A:G
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000001.11:g.184093466A>G, NC_000001.10:g.184062600A>G, NG_050569.1:g.46816A>G

Select item 149023007717.

rs1490230077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:184068684 (GRCh38)
1:184037818 (GRCh37)
Canonical SPDI:: NC_000001.11:184068683:T:A
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.184068684T>A, NC_000001.10:g.184037818T>A, NG_050569.1:g.22034T>A

Select item 149009637918.

rs1490096379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:184057762 (GRCh38)
1:184026896 (GRCh37)
Canonical SPDI:: NC_000001.11:184057761:T:C
Gene:: TSEN15 (Varview)
Functional Consequence:: 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_000001.11:g.184057762T>C, NC_000001.10:g.184026896T>C, NG_050569.1:g.11112T>C

Select item 148994685919.

rs1489946859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:184084902 (GRCh38)
1:184054036 (GRCh37)
Canonical SPDI:: NC_000001.11:184084901:G:T
Gene:: TSEN15 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.184084902G>T, NC_000001.10:g.184054036G>T, NG_050569.1:g.38252G>T

Select item 148977223720.

rs1489772237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:184049509 (GRCh38)
1:184018643 (GRCh37)
Canonical SPDI:: NC_000001.11:184049508:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.184049509T>C, NC_000001.10:g.184018643T>C, NG_050569.1:g.2859T>C

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