SNP Links for Gene (Select 100132832) - SNP

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Select item 14915870001.

rs1491587000 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:77049224 (GRCh38)
7:76678542 (GRCh37)
Canonical SPDI:: NC_000007.14:77049224::C
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.77049224_77049225insC, NC_000007.13:g.76678541_76678542insC

Select item 14915311682.

rs1491531168 has merged into rs1195545393 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:77042888 (GRCh38)
7:76672205 (GRCh37)
Canonical SPDI:: NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:77042880:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00633/7 (Korea1K)
HGVS:: NC_000007.14:g.77042888_77042893del, NC_000007.14:g.77042890_77042893del, NC_000007.14:g.77042891_77042893del, NC_000007.14:g.77042892_77042893del, NC_000007.14:g.77042893del, NC_000007.14:g.77042893dup, NC_000007.14:g.77042892_77042893dup, NC_000007.14:g.77042891_77042893dup, NC_000007.14:g.77042888_77042893dup, NC_000007.13:g.76672205_76672210del, NC_000007.13:g.76672207_76672210del, NC_000007.13:g.76672208_76672210del, NC_000007.13:g.76672209_76672210del, NC_000007.13:g.76672210del, NC_000007.13:g.76672210dup, NC_000007.13:g.76672209_76672210dup, NC_000007.13:g.76672208_76672210dup, NC_000007.13:g.76672205_76672210dup

Select item 14914920003.

rs1491492000 has merged into rs58883383 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TATATA,TATATATATA,TATATATATATATA,TATATATATATATATA [Show Flanks]
Chromosome:: 7:77042775 (GRCh38)
7:76672092 (GRCh37)
Canonical SPDI:: NC_000007.14:77042773:ATATATATA:A,NC_000007.14:77042773:ATATATATA:ATATATA,NC_000007.14:77042773:ATATATATA:ATATATATATA,NC_000007.14:77042773:ATATATATA:ATATATATATATATA,NC_000007.14:77042773:ATATATATA:ATATATATATATATATA
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
-=0.03073/364 (TOMMO)
-=0.04344/55 (Korea1K)
HGVS:: NC_000007.14:g.77042775_77042782del, NC_000007.14:g.77042775TA[3], NC_000007.14:g.77042775TA[5], NC_000007.14:g.77042775TA[7], NC_000007.14:g.77042775TA[8], NC_000007.13:g.76672092_76672099del, NC_000007.13:g.76672092TA[3], NC_000007.13:g.76672092TA[5], NC_000007.13:g.76672092TA[7], NC_000007.13:g.76672092TA[8]

Select item 14914595354.

rs1491459535 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,ATAC [Show Flanks]
Chromosome:: 7:77042767 (GRCh38)
7:76672085 (GRCh37)
Canonical SPDI:: NC_000007.14:77042767::AC,NC_000007.14:77042767::ATAC
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.77042767_77042768insAC, NC_000007.14:g.77042767_77042768insATAC, NC_000007.13:g.76672084_76672085insAC, NC_000007.13:g.76672084_76672085insATAC

Select item 14913670665.

rs1491367066 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACA,ACAC,ACACA,ACACATATATATA,ACATATATATGG,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA [Show Flanks]
Chromosome:: 7:77042881 (GRCh38)
7:76672199 (GRCh37)
Canonical SPDI:: NC_000007.14:77042881::A,NC_000007.14:77042881::ACA,NC_000007.14:77042881::ACAC,NC_000007.14:77042881::ACACA,NC_000007.14:77042881::ACACATATATATA,NC_000007.14:77042881::ACATATATATGG,NC_000007.14:77042881::ATA,NC_000007.14:77042881::ATATA,NC_000007.14:77042881::ATATATA,NC_000007.14:77042881::ATATATATA,NC_000007.14:77042881::ATATATATATA
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000007.14:g.77042881_77042882insA, NC_000007.14:g.77042881_77042882insACA, NC_000007.14:g.77042881_77042882insACAC, NC_000007.14:g.77042881_77042882insACACA, NC_000007.14:g.77042881_77042882insACACATATATATA, NC_000007.14:g.77042881_77042882insACATATATATGG, NC_000007.14:g.77042881_77042882insATA, NC_000007.14:g.77042881_77042882insATATA, NC_000007.14:g.77042881_77042882insATATATA, NC_000007.14:g.77042881_77042882insATATATATA, NC_000007.14:g.77042881_77042882insATATATATATA, NC_000007.13:g.76672198_76672199insA, NC_000007.13:g.76672198_76672199insACA, NC_000007.13:g.76672198_76672199insACAC, NC_000007.13:g.76672198_76672199insACACA, NC_000007.13:g.76672198_76672199insACACATATATATA, NC_000007.13:g.76672198_76672199insACATATATATGG, NC_000007.13:g.76672198_76672199insATA, NC_000007.13:g.76672198_76672199insATATA, NC_000007.13:g.76672198_76672199insATATATA, NC_000007.13:g.76672198_76672199insATATATATA, NC_000007.13:g.76672198_76672199insATATATATATA

Select item 14912972456.

rs1491297245 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,ACAC [Show Flanks]
Chromosome:: 7:77042789 (GRCh38)
7:76672107 (GRCh37)
Canonical SPDI:: NC_000007.14:77042789::AC,NC_000007.14:77042789::ACAC
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0.00245/28 (ALFA)
HGVS:: NC_000007.14:g.77042789_77042790insAC, NC_000007.14:g.77042789_77042790insACAC, NC_000007.13:g.76672106_76672107insAC, NC_000007.13:g.76672106_76672107insACAC

Select item 14912318757.

rs1491231875 has merged into rs1474150993 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 7:77042723 (GRCh38)
7:76672040 (GRCh37)
Canonical SPDI:: NC_000007.14:77042714:CACACACACA:CACACACA,NC_000007.14:77042714:CACACACACA:CACACACACACA
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
-=0.00203/13 (1000Genomes)
-=0.00296/35 (TOMMO)
-=0.00348/2 (NorthernSweden)
HGVS:: NC_000007.14:g.77042715CA[4], NC_000007.14:g.77042715CA[6], NC_000007.13:g.76672032CA[4], NC_000007.13:g.76672032CA[6]

Select item 14912186708.

rs1491218670 [Homo sapiens]

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

Select item 14912028539.

rs1491202853 has merged into rs1317939726 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGTGT [Show Flanks]
Chromosome:: 7:77042790 (GRCh38)
7:76672107 (GRCh37)
Canonical SPDI:: NC_000007.14:77042788:TGT:T,NC_000007.14:77042788:TGT:TGTGTGT
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.00218/128 (GnomAD)
-=0.00943/108 (TOMMO)
HGVS:: NC_000007.14:g.77042790_77042791del, NC_000007.14:g.77042790GT[3], NC_000007.13:g.76672107_76672108del, NC_000007.13:g.76672107GT[3]

Select item 149113334210.

rs1491133342 has merged into rs1405862250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 7:77049234 (GRCh38)
7:76678551 (GRCh37)
Canonical SPDI:: NC_000007.14:77049223:AAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:77049223:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:77049223:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.00383/7 (Korea1K)
HGVS:: NC_000007.14:g.77049234_77049235del, NC_000007.14:g.77049235del, NC_000007.14:g.77049235dup, NC_000007.13:g.76678551_76678552del, NC_000007.13:g.76678552del, NC_000007.13:g.76678552dup

Select item 149109241211.

rs1491092412 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:77042714 (GRCh38)
7:76672031 (GRCh37)
Canonical SPDI:: NC_000007.14:77042713:GC:
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000109/13 (GnomAD)
HGVS:: NC_000007.14:g.77042714_77042715del, NC_000007.13:g.76672031_76672032del

Select item 149072203312.

rs1490722033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:77051458 (GRCh38)
7:76680775 (GRCh37)
Canonical SPDI:: NC_000007.14:77051457:C:A
Gene:: PMS2P9 (Varview), SPDYE18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000396/6 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.77051458C>A, NC_000007.13:g.76680775C>A, NM_001394953.1:c.*467G>T

Select item 149066712413.

rs1490667124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:77048649 (GRCh38)
7:76677966 (GRCh37)
Canonical SPDI:: NC_000007.14:77048648:G:C
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.77048649G>C, NC_000007.13:g.76677966G>C

Select item 149060049214.

rs1490600492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:77049525 (GRCh38)
7:76678842 (GRCh37)
Canonical SPDI:: NC_000007.14:77049524:T:A,NC_000007.14:77049524:T:C
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000017/2 (GnomAD)
HGVS:: NC_000007.14:g.77049525T>A, NC_000007.14:g.77049525T>C, NC_000007.13:g.76678842T>A, NC_000007.13:g.76678842T>C

Select item 149049875715.

rs1490498757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:77044931 (GRCh38)
7:76674248 (GRCh37)
Canonical SPDI:: NC_000007.14:77044930:T:C
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.77044931T>C, NC_000007.13:g.76674248T>C

Select item 149028295816.

rs1490282958 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 7:77050893 (GRCh38)
7:76680210 (GRCh37)
Canonical SPDI:: NC_000007.14:77050884:TAATAATAATA:TAATAATA
Gene:: PMS2P9 (Varview), SPDYE18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAATA=0.03229/383 (ALFA)
-=0.00202/34 (TOMMO)
-=0.00357/6 (Korea1K)
-=0.05059/324 (1000Genomes)
HGVS:: NC_000007.14:g.77050887ATA[2], NC_000007.13:g.76680204ATA[2], NM_001394953.1:c.*1032TTA[2]

Select item 149022703817.

rs1490227038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:77046961 (GRCh38)
7:76676278 (GRCh37)
Canonical SPDI:: NC_000007.14:77046960:C:G,NC_000007.14:77046960:C:T
Gene:: PMS2P9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.77046961C>G, NC_000007.14:g.77046961C>T, NC_000007.13:g.76676278C>G, NC_000007.13:g.76676278C>T

Select item 149013431818.

rs1490134318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:77051370 (GRCh38)
7:76680687 (GRCh37)
Canonical SPDI:: NC_000007.14:77051369:C:T
Gene:: PMS2P9 (Varview), SPDYE18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.77051370C>T, NC_000007.13:g.76680687C>T, NM_001394953.1:c.*555G>A

Select item 148968544819.

rs1489685448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:77039805 (GRCh38)
7:76669122 (GRCh37)
Canonical SPDI:: NC_000007.14:77039804:A:G
Gene:: PMS2P9 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/2 (ALFA)
G=0.000017/2 (GnomAD)
G=0.000036/1 (TOMMO)
HGVS:: NC_000007.14:g.77039805A>G, NC_000007.13:g.76669122A>G, NR_028058.1:n.326A>G, NM_001129851.1:c.-337A>G

Select item 148968169420.

rs1489681694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:77039709 (GRCh38)
7:76669026 (GRCh37)
Canonical SPDI:: NC_000007.14:77039708:A:G,NC_000007.14:77039708:A:T
Gene:: PMS2P9 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.77039709A>G, NC_000007.14:g.77039709A>T, NC_000007.13:g.76669026A>G, NC_000007.13:g.76669026A>T, NR_028058.1:n.230A>G, NR_028058.1:n.230A>T, NM_001129851.1:c.-433A>G, NM_001129851.1:c.-433A>T

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