SNP Links for Gene (Select 158471) - SNP

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Select item 14915889381.

rs1491588938 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:76881621 (GRCh38)
9:79496538 (GRCh37)
Canonical SPDI:: NC_000009.12:76881621::A
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.76881621_76881622insA, NC_000009.11:g.79496537_79496538insA

Select item 14915871122.

rs1491587112 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:76835738 (GRCh38)
9:79450654 (GRCh37)
Canonical SPDI:: NC_000009.12:76835737:AA:
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.76835738_76835739del, NC_000009.11:g.79450654_79450655del

Select item 14915507613.

rs1491550761 has merged into rs55702049 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:76897403 (GRCh38)
9:79512319 (GRCh37)
Canonical SPDI:: NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76897390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0002/1 (1000Genomes)
-=0.0053/3 (NorthernSweden)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000009.12:g.76897403_76897427del, NC_000009.12:g.76897404_76897427del, NC_000009.12:g.76897405_76897427del, NC_000009.12:g.76897406_76897427del, NC_000009.12:g.76897407_76897427del, NC_000009.12:g.76897408_76897427del, NC_000009.12:g.76897409_76897427del, NC_000009.12:g.76897410_76897427del, NC_000009.12:g.76897411_76897427del, NC_000009.12:g.76897412_76897427del, NC_000009.12:g.76897413_76897427del, NC_000009.12:g.76897414_76897427del, NC_000009.12:g.76897415_76897427del, NC_000009.12:g.76897416_76897427del, NC_000009.12:g.76897417_76897427del, NC_000009.12:g.76897418_76897427del, NC_000009.12:g.76897419_76897427del, NC_000009.12:g.76897420_76897427del, NC_000009.12:g.76897421_76897427del, NC_000009.12:g.76897422_76897427del, NC_000009.12:g.76897423_76897427del, NC_000009.12:g.76897424_76897427del, NC_000009.12:g.76897425_76897427del, NC_000009.12:g.76897426_76897427del, NC_000009.12:g.76897427del, NC_000009.12:g.76897427dup, NC_000009.12:g.76897426_76897427dup, NC_000009.12:g.76897425_76897427dup, NC_000009.12:g.76897424_76897427dup, NC_000009.12:g.76897423_76897427dup, NC_000009.12:g.76897422_76897427dup, NC_000009.12:g.76897421_76897427dup, NC_000009.12:g.76897420_76897427dup, NC_000009.11:g.79512319_79512343del, NC_000009.11:g.79512320_79512343del, NC_000009.11:g.79512321_79512343del, NC_000009.11:g.79512322_79512343del, NC_000009.11:g.79512323_79512343del, NC_000009.11:g.79512324_79512343del, NC_000009.11:g.79512325_79512343del, NC_000009.11:g.79512326_79512343del, NC_000009.11:g.79512327_79512343del, NC_000009.11:g.79512328_79512343del, NC_000009.11:g.79512329_79512343del, NC_000009.11:g.79512330_79512343del, NC_000009.11:g.79512331_79512343del, NC_000009.11:g.79512332_79512343del, NC_000009.11:g.79512333_79512343del, NC_000009.11:g.79512334_79512343del, NC_000009.11:g.79512335_79512343del, NC_000009.11:g.79512336_79512343del, NC_000009.11:g.79512337_79512343del, NC_000009.11:g.79512338_79512343del, NC_000009.11:g.79512339_79512343del, NC_000009.11:g.79512340_79512343del, NC_000009.11:g.79512341_79512343del, NC_000009.11:g.79512342_79512343del, NC_000009.11:g.79512343del, NC_000009.11:g.79512343dup, NC_000009.11:g.79512342_79512343dup, NC_000009.11:g.79512341_79512343dup, NC_000009.11:g.79512340_79512343dup, NC_000009.11:g.79512339_79512343dup, NC_000009.11:g.79512338_79512343dup, NC_000009.11:g.79512337_79512343dup, NC_000009.11:g.79512336_79512343dup

Select item 14915481514.

rs1491548151 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:76754964 (GRCh38)
9:79369880 (GRCh37)
Canonical SPDI:: NC_000009.12:76754963:CA:
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.76754964_76754965del, NC_000009.11:g.79369880_79369881del

Select item 14915474885.

rs1491547488 has merged into rs59939233 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 9:76768583 (GRCh38)
9:79383499 (GRCh37)
Canonical SPDI:: NC_000009.12:76768581:TAT:T,NC_000009.12:76768581:TAT:TATAT
Gene:: PCA3 (Varview), PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00084/10 (ALFA)
-=0.12453/2055 (TOMMO)
-=0.14405/259 (Korea1K)
-=0.225/9 (GENOME_DK)
-=0.23193/22117 (GnomAD)
-=0.25606/148 (NorthernSweden)
HGVS:: NC_000009.12:g.76768583_76768584del, NC_000009.12:g.76768583_76768584dup, NC_000009.11:g.79383499_79383500del, NC_000009.11:g.79383499_79383500dup

Select item 14915327696.

rs1491532769 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:76837445 (GRCh38)
9:79452361 (GRCh37)
Canonical SPDI:: NC_000009.12:76837444:AA:
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.76837445_76837446del, NC_000009.11:g.79452361_79452362del

Select item 14915201387.

rs1491520138 [Homo sapiens]

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

Select item 14915025978.

rs1491502597 has merged into rs111357062 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 9:76868845 (GRCh38)
9:79483761 (GRCh37)
Canonical SPDI:: NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:76868837:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: PRUNE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
GGG=0.125/5 (GENOME_DK)
-=0.3151/1578 (1000Genomes)
HGVS:: NC_000009.12:g.76868845_76868848del, NC_000009.12:g.76868846_76868848del, NC_000009.12:g.76868847_76868848del, NC_000009.12:g.76868848del, NC_000009.12:g.76868848dup, NC_000009.12:g.76868847_76868848dup, NC_000009.12:g.76868846_76868848dup, NC_000009.12:g.76868845_76868848dup, NC_000009.12:g.76868844_76868848dup, NC_000009.12:g.76868843_76868848dup, NC_000009.12:g.76868842_76868848dup, NC_000009.12:g.76868841_76868848dup, NC_000009.12:g.76868840_76868848dup, NC_000009.12:g.76868839_76868848dup, NC_000009.12:g.76868838_76868848dup, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGGGGGGGGGG, NC_000009.12:g.76868848_76868849insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000009.11:g.79483761_79483764del, NC_000009.11:g.79483762_79483764del, NC_000009.11:g.79483763_79483764del, NC_000009.11:g.79483764del, NC_000009.11:g.79483764dup, NC_000009.11:g.79483763_79483764dup, NC_000009.11:g.79483762_79483764dup, NC_000009.11:g.79483761_79483764dup, NC_000009.11:g.79483760_79483764dup, NC_000009.11:g.79483759_79483764dup, NC_000009.11:g.79483758_79483764dup, NC_000009.11:g.79483757_79483764dup, NC_000009.11:g.79483756_79483764dup, NC_000009.11:g.79483755_79483764dup, NC_000009.11:g.79483754_79483764dup, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGGGGGGGGGG, NC_000009.11:g.79483764_79483765insGGGGGGGGGGGGGGGGGGGGGGGGGGG

Select item 14914948689.

rs1491494868 has merged into rs11292120 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:76754976 (GRCh38)
9:79369892 (GRCh37)
Canonical SPDI:: NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:76754964:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000009.12:g.76754976_76754988del, NC_000009.12:g.76754977_76754988del, NC_000009.12:g.76754978_76754988del, NC_000009.12:g.76754979_76754988del, NC_000009.12:g.76754980_76754988del, NC_000009.12:g.76754981_76754988del, NC_000009.12:g.76754982_76754988del, NC_000009.12:g.76754983_76754988del, NC_000009.12:g.76754984_76754988del, NC_000009.12:g.76754985_76754988del, NC_000009.12:g.76754986_76754988del, NC_000009.12:g.76754987_76754988del, NC_000009.12:g.76754988del, NC_000009.12:g.76754988dup, NC_000009.12:g.76754987_76754988dup, NC_000009.12:g.76754986_76754988dup, NC_000009.12:g.76754985_76754988dup, NC_000009.12:g.76754984_76754988dup, NC_000009.12:g.76754983_76754988dup, NC_000009.12:g.76754982_76754988dup, NC_000009.12:g.76754970_76754988dup, NC_000009.12:g.76754988_76754989insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.79369892_79369904del, NC_000009.11:g.79369893_79369904del, NC_000009.11:g.79369894_79369904del, NC_000009.11:g.79369895_79369904del, NC_000009.11:g.79369896_79369904del, NC_000009.11:g.79369897_79369904del, NC_000009.11:g.79369898_79369904del, NC_000009.11:g.79369899_79369904del, NC_000009.11:g.79369900_79369904del, NC_000009.11:g.79369901_79369904del, NC_000009.11:g.79369902_79369904del, NC_000009.11:g.79369903_79369904del, NC_000009.11:g.79369904del, NC_000009.11:g.79369904dup, NC_000009.11:g.79369903_79369904dup, NC_000009.11:g.79369902_79369904dup, NC_000009.11:g.79369901_79369904dup, NC_000009.11:g.79369900_79369904dup, NC_000009.11:g.79369899_79369904dup, NC_000009.11:g.79369898_79369904dup, NC_000009.11:g.79369886_79369904dup, NC_000009.11:g.79369904_79369905insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149147195910.

rs1491471959 has merged into rs1286084067 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 9:76869404 (GRCh38)
9:79484320 (GRCh37)
Canonical SPDI:: NC_000009.12:76869398:TGTGTGT:TGTGT,NC_000009.12:76869398:TGTGTGT:TGTGTGTGT
Gene:: PRUNE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000546/1 (Korea1K)
-=0.000955/16 (TOMMO)
HGVS:: NC_000009.12:g.76869400GT[2], NC_000009.12:g.76869400GT[4], NC_000009.11:g.79484316GT[2], NC_000009.11:g.79484316GT[4]

Select item 149144374111.

rs1491443741 has merged into rs1411263754 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 9:76752113 (GRCh38)
9:79367029 (GRCh37)
Canonical SPDI:: NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRUNE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.00106/5 (TOMMO)
HGVS:: NC_000009.12:g.76752113_76752115del, NC_000009.12:g.76752114_76752115del, NC_000009.12:g.76752115del, NC_000009.12:g.76752115dup, NC_000009.12:g.76752114_76752115dup, NC_000009.12:g.76752113_76752115dup, NC_000009.12:g.76752108_76752115dup, NC_000009.11:g.79367029_79367031del, NC_000009.11:g.79367030_79367031del, NC_000009.11:g.79367031del, NC_000009.11:g.79367031dup, NC_000009.11:g.79367030_79367031dup, NC_000009.11:g.79367029_79367031dup, NC_000009.11:g.79367024_79367031dup

Select item 149143234512.

rs1491432345 [Homo sapiens]

Variant type:: INS
Alleles:: ->CGCGCA,CGCGCT [Show Flanks]
Chromosome:: 9:76807062 (GRCh38)
9:79421979 (GRCh37)
Canonical SPDI:: NC_000009.12:76807062::CGCGCA,NC_000009.12:76807062::CGCGCT
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCA=0./0 (ALFA)
HGVS:: NC_000009.12:g.76807062_76807063insCGCGCA, NC_000009.12:g.76807062_76807063insCGCGCT, NC_000009.11:g.79421978_79421979insCGCGCA, NC_000009.11:g.79421978_79421979insCGCGCT

Select item 149143141913.

rs1491431419 has merged into rs897421389 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 9:76751273 (GRCh38)
9:79366189 (GRCh37)
Canonical SPDI:: NC_000009.12:76751271:AGA:A,NC_000009.12:76751271:AGA:AGAGA
Gene:: PRUNE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
AG=0.000022/3 (GnomAD)
HGVS:: NC_000009.12:g.76751273_76751274del, NC_000009.12:g.76751273_76751274dup, NC_000009.11:g.79366189_79366190del, NC_000009.11:g.79366189_79366190dup

Select item 149141875914.

rs1491418759 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:76627106 (GRCh38)
9:79242022 (GRCh37)
Canonical SPDI:: NC_000009.12:76627104:TCT:T
Gene:: PRUNE2 (Varview), LOC105376095 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.0001/5 (GnomAD)
HGVS:: NC_000009.12:g.76627106_76627107del, NC_000009.11:g.79242022_79242023del, XM_017014353.3:c.*684_*685del, XM_017014353.1:c.*684_*685del

Select item 149141576015.

rs1491415760 has merged into rs59132509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 9:76885856 (GRCh38)
9:79500772 (GRCh37)
Canonical SPDI:: NC_000009.12:76885847:TTTTTTTTTT:TTTTTTTT,NC_000009.12:76885847:TTTTTTTTTT:TTTTTTTTT,NC_000009.12:76885847:TTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:76885847:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.283843/520 (Korea1K)
-=0.358333/215 (NorthernSweden)
-=0.386275/102243 (TOPMED)
-=0.394759/1868 (1000Genomes)
-=0.4/16 (GENOME_DK)
-=0.403571/1808 (Estonian)
-=0.436874/436 (GoNL)
HGVS:: NC_000009.12:g.76885856_76885857del, NC_000009.12:g.76885857del, NC_000009.12:g.76885857dup, NC_000009.12:g.76885856_76885857dup, NC_000009.11:g.79500772_79500773del, NC_000009.11:g.79500773del, NC_000009.11:g.79500773dup, NC_000009.11:g.79500772_79500773dup

Select item 149140461816.

rs1491404618 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATACATATATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 9:76879904 (GRCh38)
9:79494821 (GRCh37)
Canonical SPDI:: NC_000009.12:76879904::A,NC_000009.12:76879904::ATA,NC_000009.12:76879904::ATATA,NC_000009.12:76879904::ATATATA,NC_000009.12:76879904::ATATATATA,NC_000009.12:76879904::ATATATATATA,NC_000009.12:76879904::ATATATATATATA,NC_000009.12:76879904::ATATATATATATACATATATATATATATATA,NC_000009.12:76879904::ATATATATATATATA,NC_000009.12:76879904::ATATATATATATATATA,NC_000009.12:76879904::ATATATATATATATATATA,NC_000009.12:76879904::ATATATATATATATATATATATA,NC_000009.12:76879904::ATATATATATATATATATATATATATA
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.01556/23 (Korea1K)
HGVS:: NC_000009.12:g.76879904_76879905insA, NC_000009.12:g.76879904_76879905insATA, NC_000009.12:g.76879904_76879905insATATA, NC_000009.12:g.76879904_76879905insATATATA, NC_000009.12:g.76879904_76879905insATATATATA, NC_000009.12:g.76879904_76879905insATATATATATA, NC_000009.12:g.76879904_76879905insATATATATATATA, NC_000009.12:g.76879904_76879905insATATATATATATACATATATATATATATATA, NC_000009.12:g.76879904_76879905insATATATATATATATA, NC_000009.12:g.76879904_76879905insATATATATATATATATA, NC_000009.12:g.76879904_76879905insATATATATATATATATATA, NC_000009.12:g.76879904_76879905insATATATATATATATATATATATA, NC_000009.12:g.76879904_76879905insATATATATATATATATATATATATATA, NC_000009.11:g.79494820_79494821insA, NC_000009.11:g.79494820_79494821insATA, NC_000009.11:g.79494820_79494821insATATA, NC_000009.11:g.79494820_79494821insATATATA, NC_000009.11:g.79494820_79494821insATATATATA, NC_000009.11:g.79494820_79494821insATATATATATA, NC_000009.11:g.79494820_79494821insATATATATATATA, NC_000009.11:g.79494820_79494821insATATATATATATACATATATATATATATATA, NC_000009.11:g.79494820_79494821insATATATATATATATA, NC_000009.11:g.79494820_79494821insATATATATATATATATA, NC_000009.11:g.79494820_79494821insATATATATATATATATATA, NC_000009.11:g.79494820_79494821insATATATATATATATATATATATA, NC_000009.11:g.79494820_79494821insATATATATATATATATATATATATATA

Select item 149140280817.

rs1491402808 has merged into rs139801181 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCGCG>-,CG,CGCG,CGCGCGCG,CGCGCGCGCGCG,CGCGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCG [Show Flanks]
Chromosome:: 9:76807053 (GRCh38)
9:79421969 (GRCh37)
Canonical SPDI:: NC_000009.12:76807051:GCGCGCGCGCG:G,NC_000009.12:76807051:GCGCGCGCGCG:GCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCGCGCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCGCGCGCGCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCGCGCGCGCGCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCG,NC_000009.12:76807051:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCG
Gene:: PRUNE2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GCGCGC=0.007148/120 (TOMMO)
GCGCGC=0.051724/9 (Vietnamese)
HGVS:: NC_000009.12:g.76807053_76807062del, NC_000009.12:g.76807053CG[1], NC_000009.12:g.76807053CG[2], NC_000009.12:g.76807053CG[4], NC_000009.12:g.76807053CG[6], NC_000009.12:g.76807053CG[7], NC_000009.12:g.76807053CG[8], NC_000009.12:g.76807053CG[9], NC_000009.12:g.76807053CG[10], NC_000009.12:g.76807053CG[11], NC_000009.11:g.79421969_79421978del, NC_000009.11:g.79421969CG[1], NC_000009.11:g.79421969CG[2], NC_000009.11:g.79421969CG[4], NC_000009.11:g.79421969CG[6], NC_000009.11:g.79421969CG[7], NC_000009.11:g.79421969CG[8], NC_000009.11:g.79421969CG[9], NC_000009.11:g.79421969CG[10], NC_000009.11:g.79421969CG[11]

Select item 149139660318.

rs1491396603 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:76752097 (GRCh38)
9:79367013 (GRCh37)
Canonical SPDI:: NC_000009.12:76752096:GT:
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/1 (GnomAD)
HGVS:: NC_000009.12:g.76752097_76752098del, NC_000009.11:g.79367013_79367014del

Select item 149139634819.

rs1491396348 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 9:76722225 (GRCh38)
9:79337142 (GRCh37)
Canonical SPDI:: NC_000009.12:76722225:T:TGT
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00012/8 (GnomAD)
HGVS:: NC_000009.12:g.76722226_76722227insGT, NC_000009.11:g.79337142_79337143insGT

Select item 149138297720.

rs1491382977 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 9:76727646 (GRCh38)
9:79342563 (GRCh37)
Canonical SPDI:: NC_000009.12:76727646:T:TCT
Gene:: PRUNE2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.000071/1 (TOMMO)
TC=0.000133/14 (GnomAD)
HGVS:: NC_000009.12:g.76727647_76727648insCT, NC_000009.11:g.79342563_79342564insCT

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