SNP Links for Gene (Select 349633) - SNP

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Select item 14913588831.

rs1491358883 has merged into rs796868680 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:112254537 (GRCh38)
11:112125260 (GRCh37)
Canonical SPDI:: NC_000011.10:112254535:TAT:T
Gene:: PLET1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001602/19 (ALFA)
-=0.000689/11 (TOMMO)
-=0.001781/206 (GnomAD)
HGVS:: NC_000011.10:g.112254537_112254538del, NC_000011.9:g.112125260_112125261del

Select item 14913233952.

rs1491323395 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:112250220 (GRCh38)
11:112120943 (GRCh37)
Canonical SPDI:: NC_000011.10:112250219:CT:
Gene:: PLET1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.112250220_112250221del, NC_000011.9:g.112120943_112120944del

Select item 14913108983.

rs1491310898 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACACACACACACAC,ACACACACACACACACACACAC [Show Flanks]
Chromosome:: 11:112261450 (GRCh38)
11:112132174 (GRCh37)
Canonical SPDI:: NC_000011.10:112261450::ACACACACACACACAC,NC_000011.10:112261450::ACACACACACACACACACACAC
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.112261450_112261451insACACACACACACACAC, NC_000011.10:g.112261450_112261451insACACACACACACACACACACAC, NC_000011.9:g.112132173_112132174insACACACACACACACAC, NC_000011.9:g.112132173_112132174insACACACACACACACACACACAC

Select item 14912630314.

rs1491263031 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACA,CACACACACACA [Show Flanks]
Chromosome:: 11:112247882 (GRCh38)
11:112118606 (GRCh37)
Canonical SPDI:: NC_000011.10:112247882:A:ACA,NC_000011.10:112247882:A:ACACA,NC_000011.10:112247882:A:ACACACA,NC_000011.10:112247882:A:ACACACACA,NC_000011.10:112247882:A:ACACACACACACA
Gene:: PLET1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
HGVS:: NC_000011.10:g.112247883_112247884insCA, NC_000011.10:g.112247883_112247884insCACA, NC_000011.10:g.112247884CA[3], NC_000011.10:g.112247884CA[4], NC_000011.10:g.112247884CA[6], NC_000011.9:g.112118606_112118607insCA, NC_000011.9:g.112118606_112118607insCACA, NC_000011.9:g.112118607CA[3], NC_000011.9:g.112118607CA[4], NC_000011.9:g.112118607CA[6]

Select item 14912265435.

rs1491226543 has merged into rs36024686 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:112261471 (GRCh38)
11:112132194 (GRCh37)
Canonical SPDI:: NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:112261449:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.07497/278 (TWINSUK)
-=0.11339/437 (ALSPAC)
HGVS:: NC_000011.10:g.112261451GT[10], NC_000011.10:g.112261451GT[12], NC_000011.10:g.112261451GT[13], NC_000011.10:g.112261451GT[14], NC_000011.10:g.112261451GT[15], NC_000011.10:g.112261451GT[17], NC_000011.10:g.112261451GT[18], NC_000011.10:g.112261451GT[19], NC_000011.10:g.112261451GT[20], NC_000011.10:g.112261451GT[21], NC_000011.10:g.112261451GT[22], NC_000011.10:g.112261451GT[23], NC_000011.10:g.112261451GT[24], NC_000011.10:g.112261451GT[25], NC_000011.10:g.112261451GT[26], NC_000011.9:g.112132174GT[10], NC_000011.9:g.112132174GT[12], NC_000011.9:g.112132174GT[13], NC_000011.9:g.112132174GT[14], NC_000011.9:g.112132174GT[15], NC_000011.9:g.112132174GT[17], NC_000011.9:g.112132174GT[18], NC_000011.9:g.112132174GT[19], NC_000011.9:g.112132174GT[20], NC_000011.9:g.112132174GT[21], NC_000011.9:g.112132174GT[22], NC_000011.9:g.112132174GT[23], NC_000011.9:g.112132174GT[24], NC_000011.9:g.112132174GT[25], NC_000011.9:g.112132174GT[26]

Select item 14911698866.

rs1491169886 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:112261867 (GRCh38)
11:112132590 (GRCh37)
Canonical SPDI:: NC_000011.10:112261865:ACA:A
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/1 (GnomAD)
HGVS:: NC_000011.10:g.112261867_112261868del, NC_000011.9:g.112132590_112132591del

Select item 14910691077.

rs1491069107 has merged into rs113302549 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG [Show Flanks]
Chromosome:: 11:112254350 (GRCh38)
11:112125073 (GRCh37)
Canonical SPDI:: NC_000011.10:112254340:GTGTGTGTGTG:GTGTGTGTG,NC_000011.10:112254340:GTGTGTGTGTG:GTGTGTGTGTGTG,NC_000011.10:112254340:GTGTGTGTGTG:GTGTGTGTGTGTGTG
Gene:: PLET1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.17976/3011 (TOMMO)
-=0.26699/990 (TWINSUK)
-=0.26954/269 (GoNL)
-=0.26959/1039 (ALSPAC)
-=0.27815/1393 (1000Genomes)
-=0.31167/187 (NorthernSweden)
HGVS:: NC_000011.10:g.112254342TG[4], NC_000011.10:g.112254342TG[6], NC_000011.10:g.112254342TG[7], NC_000011.9:g.112125065TG[4], NC_000011.9:g.112125065TG[6], NC_000011.9:g.112125065TG[7]

Select item 14910637958.

rs1491063795 has merged into rs1211726288 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGT>-,ATGTATGT [Show Flanks]
Chromosome:: 11:112254921 (GRCh38)
11:112125644 (GRCh37)
Canonical SPDI:: NC_000011.10:112254914:GTATGTATGT:GTATGT,NC_000011.10:112254914:GTATGTATGT:GTATGTATGTATGT
Gene:: PLET1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTATGTATGTATGT=0./0 (ALFA)
-=0.000107/12 (GnomAD)
HGVS:: NC_000011.10:g.112254917ATGT[1], NC_000011.10:g.112254917ATGT[3], NC_000011.9:g.112125640ATGT[1], NC_000011.9:g.112125640ATGT[3]

Select item 14910437019.

rs1491043701 has merged into rs149956623 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGGTGTGTGCTGTGTGTGTG,TGTGGTGTGTGTG [Show Flanks]
Chromosome:: 11:112254644 (GRCh38)
11:112125367 (GRCh37)
Canonical SPDI:: NC_000011.10:112254638:GTGTGTG:GTGTG,NC_000011.10:112254638:GTGTGTG:GTGTGTGTG,NC_000011.10:112254638:GTGTGTG:GTGTGTGTGGTGTGTGCTGTGTGTGTG,NC_000011.10:112254638:GTGTGTG:GTGTGTGTGGTGTGTGTG
Gene:: PLET1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGGTGTGTGCTGTGTGTGTG=0./0 (ALFA)
-=0.18969/3125 (TOMMO)
TG=0.26336/1015 (ALSPAC)
TG=0.26402/979 (TWINSUK)
-=0.26854/268 (GoNL)
-=0.33779/202 (NorthernSweden)
-=0.42292/2118 (1000Genomes)
HGVS:: NC_000011.10:g.112254640TG[2], NC_000011.10:g.112254640TG[4], NC_000011.10:g.112254639_112254645GT[4]GGTGTGTGCTGTGTGTGTG[1], NC_000011.10:g.112254645_112254646insTGGTGTGTGTG, NC_000011.9:g.112125363TG[2], NC_000011.9:g.112125363TG[4], NC_000011.9:g.112125362_112125368GT[4]GGTGTGTGCTGTGTGTGTG[1], NC_000011.9:g.112125368_112125369insTGGTGTGTGTG

Select item 149097638110.

rs1490976381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:112259268 (GRCh38)
11:112129991 (GRCh37)
Canonical SPDI:: NC_000011.10:112259267:A:G
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: intron_variant,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.112259268A>G, NC_000011.9:g.112129991A>G

Select item 149093111411.

rs1490931114 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:112260325 (GRCh38)
11:112131048 (GRCh37)
Canonical SPDI:: NC_000011.10:112260324:G:
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.112260325del, NC_000011.9:g.112131048del, NR_133566.1:n.61del

Select item 149083438212.

rs1490834382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:112260282 (GRCh38)
11:112131005 (GRCh37)
Canonical SPDI:: NC_000011.10:112260281:C:A
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.112260282C>A, NC_000011.9:g.112131005C>A, NR_133566.1:n.18C>A

Select item 149080634213.

rs1490806342 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 11:112262725 (GRCh38)
11:112133448 (GRCh37)
Canonical SPDI:: NC_000011.10:112262722:TTGTT:TT
Gene:: PLET1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.112262725_112262727del, NC_000011.9:g.112133448_112133450del

Select item 149080537114.

rs1490805371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:112255465 (GRCh38)
11:112126188 (GRCh37)
Canonical SPDI:: NC_000011.10:112255464:C:A
Gene:: PLET1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.112255465C>A, NC_000011.9:g.112126188C>A, NM_001145024.1:c.309G>T

Select item 149067139915.

rs1490671399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>- [Show Flanks]
Chromosome:: 11:112261380 (GRCh38)
11:112132103 (GRCh37)
Canonical SPDI:: NC_000011.10:112261377:AAAGAA:AA
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.112261380_112261383del, NC_000011.9:g.112132103_112132106del, NR_133566.1:n.1116_1119del

Select item 149064226916.

rs1490642269 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGCTGCTGAAGACTTGGTTTGCC [Show Flanks]
Chromosome:: 11:112248877 (GRCh38)
11:112119601 (GRCh37)
Canonical SPDI:: NC_000011.10:112248877:GCC:GCCGGGGCTGCTGAAGACTTGGTTTGCC
Gene:: PLET1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCCGGGGCTGCTGAAGACTTGGTTTGCC=0./0 (ALFA)
GCCGGGGCTGCTGAAGACTTGGTTT=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.112248880_112248881insGGGGCTGCTGAAGACTTGGTTTGCC, NC_000011.9:g.112119603_112119604insGGGGCTGCTGAAGACTTGGTTTGCC, NM_001145024.1:c.545_546insAAACCAAGTCTTCAGCAGCCCCGGC, NP_001138496.1:p.Ile190fs

Select item 149052434017.

rs1490524340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:112260622 (GRCh38)
11:112131345 (GRCh37)
Canonical SPDI:: NC_000011.10:112260621:G:T
Gene:: PLET1 (Varview), LOC100132686 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.112260622G>T, NC_000011.9:g.112131345G>T, NM_001145024.1:c.-33C>A, NR_133566.1:n.358G>T

Select item 149040059518.

rs1490400595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:112253392 (GRCh38)
11:112124115 (GRCh37)
Canonical SPDI:: NC_000011.10:112253391:T:C
Gene:: PLET1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.112253392T>C, NC_000011.9:g.112124115T>C

Select item 149018727319.

rs1490187273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:112247890 (GRCh38)
11:112118613 (GRCh37)
Canonical SPDI:: NC_000011.10:112247889:C:T
Gene:: PLET1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00202/24 (ALFA)
T=0.01561/227 (GnomAD)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000011.10:g.112247890C>T, NC_000011.9:g.112118613C>T

Select item 149004285520.

rs1490042855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:112254670 (GRCh38)
11:112125393 (GRCh37)
Canonical SPDI:: NC_000011.10:112254669:A:G
Gene:: PLET1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00514/61 (ALFA)
G=0.00033/22 (GnomAD)
G=0.00089/15 (TOMMO)
G=0.00754/22 (KOREAN)
HGVS:: NC_000011.10:g.112254670A>G, NC_000011.9:g.112125393A>G

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