SNP Links for Gene (Select 8499) - SNP

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Select item 14915841651.

rs1491584165 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:81683349 (GRCh38)
12:82077128 (GRCh37)
Canonical SPDI:: NC_000012.12:81683348:AA:
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.81683349_81683350del, NC_000012.11:g.82077128_82077129del

Select item 14915828432.

rs1491582843 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CATACA,CATGCA,CATGTATGTATGTATTATATACATGCATGTACA [Show Flanks]
Chromosome:: 12:81642676 (GRCh38)
12:82036456 (GRCh37)
Canonical SPDI:: NC_000012.12:81642676:A:ACA,NC_000012.12:81642676:A:ACATACA,NC_000012.12:81642676:A:ACATGCA,NC_000012.12:81642676:A:ACATGTATGTATGTATTATATACATGCATGTACA
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACATACA=0./0 (ALFA)
ACATGTATGTATGTATTATATACATGCATGTAC=0.00002/1 (GnomAD)
HGVS:: NC_000012.12:g.81642677_81642678insCA, NC_000012.12:g.81642677_81642678insCATACA, NC_000012.12:g.81642677_81642678insCATGCA, NC_000012.12:g.81642677_81642678insCATGTATGTATGTATTATATACATGCATGTACA, NC_000012.11:g.82036456_82036457insCA, NC_000012.11:g.82036456_82036457insCATACA, NC_000012.11:g.82036456_82036457insCATGCA, NC_000012.11:g.82036456_82036457insCATGTATGTATGTATTATATACATGCATGTACA

Select item 14915725303.

rs1491572530 has merged into rs61254401 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 12:81389140 (GRCh38)
12:81782919 (GRCh37)
Canonical SPDI:: NC_000012.12:81389125:TATATATATATATATATATA:TATATATATATATA,NC_000012.12:81389125:TATATATATATATATATATA:TATATATATATATATA,NC_000012.12:81389125:TATATATATATATATATATA:TATATATATATATATATA,NC_000012.12:81389125:TATATATATATATATATATA:TATATATATATATATATATATA,NC_000012.12:81389125:TATATATATATATATATATA:TATATATATATATATATATATATA,NC_000012.12:81389125:TATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000012.12:81389125:TATATATATATATATATATA:TATATATATATATATATATATATATATA
Gene:: PPFIA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0./0 (ALFA)
TATATATA=0.000004/1 (TOPMED)
-=0.188898/946 (1000Genomes)
-=0.277778/10 (GENOME_DK)
HGVS:: NC_000012.12:g.81389126TA[7], NC_000012.12:g.81389126TA[8], NC_000012.12:g.81389126TA[9], NC_000012.12:g.81389126TA[11], NC_000012.12:g.81389126TA[12], NC_000012.12:g.81389126TA[13], NC_000012.12:g.81389126TA[14], NC_000012.11:g.81782905TA[7], NC_000012.11:g.81782905TA[8], NC_000012.11:g.81782905TA[9], NC_000012.11:g.81782905TA[11], NC_000012.11:g.81782905TA[12], NC_000012.11:g.81782905TA[13], NC_000012.11:g.81782905TA[14]

Select item 14915594774.

rs1491559477 has merged into rs138463393 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACA,CACACACA [Show Flanks]
Chromosome:: 12:81535656 (GRCh38)
12:81929435 (GRCh37)
Canonical SPDI:: NC_000012.12:81535642:ACACACACACACACA:ACACACACACACA,NC_000012.12:81535642:ACACACACACACACA:ACACACACACACACACA,NC_000012.12:81535642:ACACACACACACACA:ACACACACACACACACACA,NC_000012.12:81535642:ACACACACACACACA:ACACACACACACACACACACA
Gene:: PPFIA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
AC=0.05/2 (GENOME_DK)
AC=0.07636/489 (1000Genomes)
AC=0.095/57 (NorthernSweden)
AC=0.12425/124 (GoNL)
HGVS:: NC_000012.12:g.81535644CA[6], NC_000012.12:g.81535644CA[8], NC_000012.12:g.81535644CA[9], NC_000012.12:g.81535644CA[10], NC_000012.11:g.81929423CA[6], NC_000012.11:g.81929423CA[8], NC_000012.11:g.81929423CA[9], NC_000012.11:g.81929423CA[10]

Select item 14915579335.

rs1491557933 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT,CTTTTT,CTTTTTT,CTTTTTTTT,CTTTTTTTTTT [Show Flanks]
Chromosome:: 12:81268132 (GRCh38)
12:81661912 (GRCh37)
Canonical SPDI:: NC_000012.12:81268132:TTT:TTTCTTTT,NC_000012.12:81268132:TTT:TTTCTTTTT,NC_000012.12:81268132:TTT:TTTCTTTTTT,NC_000012.12:81268132:TTT:TTTCTTTTTTTT,NC_000012.12:81268132:TTT:TTTCTTTTTTTTTT
Gene:: PPFIA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.81268135_81268136insCTTTT, NC_000012.12:g.81268135_81268136insCTTTTT, NC_000012.12:g.81268135_81268136insCTTTTTT, NC_000012.12:g.81268135_81268136insCTTTTTTTT, NC_000012.12:g.81268135_81268136insCTTTTTTTTTT, NC_000012.11:g.81661914_81661915insCTTTT, NC_000012.11:g.81661914_81661915insCTTTTT, NC_000012.11:g.81661914_81661915insCTTTTTT, NC_000012.11:g.81661914_81661915insCTTTTTTTT, NC_000012.11:g.81661914_81661915insCTTTTTTTTTT

Select item 14915571656.

rs1491557165 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:81741635 (GRCh38)
12:82135414 (GRCh37)
Canonical SPDI:: NC_000012.12:81741634:AT:
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00058/19 (GnomAD)
HGVS:: NC_000012.12:g.81741635_81741636del, NC_000012.11:g.82135414_82135415del

Select item 14915526217.

rs1491552621 has merged into rs11325864 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:81741647 (GRCh38)
12:82135426 (GRCh37)
Canonical SPDI:: NC_000012.12:81741635:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:81741635:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:81741635:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:81741635:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:81741635:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:81741635:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPFIA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.0021/8 (ALSPAC)
T=0.0032/12 (TWINSUK)
T=0.0693/41 (NorthernSweden)
T=0.1/4 (GENOME_DK)
T=0.3694/1850 (1000Genomes)
HGVS:: NC_000012.12:g.81741647_81741650del, NC_000012.12:g.81741648_81741650del, NC_000012.12:g.81741649_81741650del, NC_000012.12:g.81741650del, NC_000012.12:g.81741650dup, NC_000012.12:g.81741641_81741650dup, NC_000012.11:g.82135426_82135429del, NC_000012.11:g.82135427_82135429del, NC_000012.11:g.82135428_82135429del, NC_000012.11:g.82135429del, NC_000012.11:g.82135429dup, NC_000012.11:g.82135420_82135429dup

Select item 14915511968.

rs1491551196 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:81338603 (GRCh38)
12:81732383 (GRCh37)
Canonical SPDI:: NC_000012.12:81338603::A
Gene:: PPFIA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00124/5 (Estonian)
HGVS:: NC_000012.12:g.81338603_81338604insA, NC_000012.11:g.81732382_81732383insA

Select item 14915506249.

rs1491550624 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:81751533 (GRCh38)
12:82145312 (GRCh37)
Canonical SPDI:: NC_000012.12:81751532:CT:
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.81751533_81751534del, NC_000012.11:g.82145312_82145313del

Select item 149154450610.

rs1491544506 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:81732531 (GRCh38)
12:82126310 (GRCh37)
Canonical SPDI:: NC_000012.12:81732528:ACAC:AC
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
HGVS:: NC_000012.12:g.81732529AC[1], NC_000012.11:g.82126308AC[1]

Select item 149154370211.

rs1491543702 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 12:81389122 (GRCh38)
12:81782902 (GRCh37)
Canonical SPDI:: NC_000012.12:81389122:TTTT:TTTTTT
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.81389125_81389126dup, NC_000012.11:g.81782904_81782905dup

Select item 149153131012.

rs1491531310 has merged into rs1555554136 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 12:81647779 (GRCh38)
12:82041558 (GRCh37)
Canonical SPDI:: NC_000012.12:81647778:AA:A,NC_000012.12:81647778:AA:AAA,NC_000012.12:81647778:AA:AAAA
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AA=0.000018/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.81647780del, NC_000012.12:g.81647780dup, NC_000012.12:g.81647779_81647780dup, NC_000012.11:g.82041559del, NC_000012.11:g.82041559dup, NC_000012.11:g.82041558_82041559dup

Select item 149151914213.

rs1491519142 has merged into rs11365242 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 12:81658305 (GRCh38)
12:82052084 (GRCh37)
Canonical SPDI:: NC_000012.12:81658295:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:81658295:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:81658295:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:81658295:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:81658295:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PPFIA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.2105/8 (GENOME_DK)
A=0.2133/822 (ALSPAC)
A=0.2273/843 (TWINSUK)
A=0.3664/1835 (1000Genomes)
A=0.415/249 (NorthernSweden)
HGVS:: NC_000012.12:g.81658305_81658306del, NC_000012.12:g.81658306del, NC_000012.12:g.81658306dup, NC_000012.12:g.81658303_81658306dup, NC_000012.12:g.81658298_81658306dup, NC_000012.11:g.82052084_82052085del, NC_000012.11:g.82052085del, NC_000012.11:g.82052085dup, NC_000012.11:g.82052082_82052085dup, NC_000012.11:g.82052077_82052085dup

Select item 149151851814.

rs1491518518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 12:81443846 (GRCh38)
12:81837626 (GRCh37)
Canonical SPDI:: NC_000012.12:81443846:T:TCT
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TC=0.00003/2 (GnomAD)
HGVS:: NC_000012.12:g.81443847_81443848insCT, NC_000012.11:g.81837626_81837627insCT

Select item 149151817215.

rs1491518172 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAATTATATTTATATATAATATATTAATTATATTTATATATATTATATA [Show Flanks]
Chromosome:: 12:81585044 (GRCh38)
12:81978824 (GRCh37)
Canonical SPDI:: NC_000012.12:81585044:ATATATTATATA:ATATATTATATATTAATTATATTTATATATAATATATTAATTATATTTATATATATTATATA
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: ATATATTATATATTAATTATATTTATATATAATATATTAATTATATTTAT=0.00002/2 (GnomAD)
HGVS:: NC_000012.12:g.81585045_81585056ATATATT[2]AATTATATTTATATATAATATATTAATTATATTTATATATATTATATA[1], NC_000012.11:g.81978824_81978835ATATATT[2]AATTATATTTATATATAATATATTAATTATATTTATATATATTATATA[1]

Select item 149151774316.

rs1491517743 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACACA,TACA,TACACA,TAGACACA,TATACA,TATACACA,TATAGACACA,TATATACA,TATATACACA,TATATACATATACA,TATATAGACACA,TATATATACA,TATATATACACA,TATATATACATATACA,TATATATAGACACA,TATATATATACA,TATATATATAGACACA,TATATATATATACA,TATATATATATAGACACA,TATATATATATATACA,TATATATATATATATACA,TATATATATATATATATACA,TATATATATATATATATATACA,TATATATATATATATATATATACA [Show Flanks]
Chromosome:: 12:81493787 (GRCh38)
12:81887567 (GRCh37)
Canonical SPDI:: NC_000012.12:81493787:A:AGACACA,NC_000012.12:81493787:A:ATACA,NC_000012.12:81493787:A:ATACACA,NC_000012.12:81493787:A:ATAGACACA,NC_000012.12:81493787:A:ATATACA,NC_000012.12:81493787:A:ATATACACA,NC_000012.12:81493787:A:ATATAGACACA,NC_000012.12:81493787:A:ATATATACA,NC_000012.12:81493787:A:ATATATACACA,NC_000012.12:81493787:A:ATATATACATATACA,NC_000012.12:81493787:A:ATATATAGACACA,NC_000012.12:81493787:A:ATATATATACA,NC_000012.12:81493787:A:ATATATATACACA,NC_000012.12:81493787:A:ATATATATACATATACA,NC_000012.12:81493787:A:ATATATATAGACACA,NC_000012.12:81493787:A:ATATATATATACA,NC_000012.12:81493787:A:ATATATATATAGACACA,NC_000012.12:81493787:A:ATATATATATATACA,NC_000012.12:81493787:A:ATATATATATATAGACACA,NC_000012.12:81493787:A:ATATATATATATATACA,NC_000012.12:81493787:A:ATATATATATATATATACA,NC_000012.12:81493787:A:ATATATATATATATATATACA,NC_000012.12:81493787:A:ATATATATATATATATATATACA,NC_000012.12:81493787:A:ATATATATATATATATATATATACA
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACA=0./0 (ALFA)
ATAC=0.02833/17 (NorthernSweden)
HGVS:: NC_000012.12:g.81493788_81493789insGACACA, NC_000012.12:g.81493788_81493789insTACA, NC_000012.12:g.81493788_81493789insTACACA, NC_000012.12:g.81493788_81493789insTAGACACA, NC_000012.12:g.81493788AT[2]ACA[1], NC_000012.12:g.81493788AT[2]AC[2]A[1], NC_000012.12:g.81493788AT[2]AGACACA[1], NC_000012.12:g.81493788AT[3]ACA[1], NC_000012.12:g.81493788AT[3]AC[2]A[1], NC_000012.12:g.81493788AT[3]ACATATACA[1], NC_000012.12:g.81493788AT[3]AGACACA[1], NC_000012.12:g.81493788AT[4]ACA[1], NC_000012.12:g.81493788AT[4]AC[2]A[1], NC_000012.12:g.81493788AT[4]ACATATACA[1], NC_000012.12:g.81493788AT[4]AGACACA[1], NC_000012.12:g.81493788AT[5]ACA[1], NC_000012.12:g.81493788AT[5]AGACACA[1], NC_000012.12:g.81493788AT[6]ACA[1], NC_000012.12:g.81493788AT[6]AGACACA[1], NC_000012.12:g.81493788AT[7]ACA[1], NC_000012.12:g.81493788AT[8]ACA[1], NC_000012.12:g.81493788AT[9]ACA[1], NC_000012.12:g.81493788AT[10]ACA[1], NC_000012.12:g.81493788AT[11]ACA[1], NC_000012.11:g.81887567_81887568insGACACA, NC_000012.11:g.81887567_81887568insTACA, NC_000012.11:g.81887567_81887568insTACACA, NC_000012.11:g.81887567_81887568insTAGACACA, NC_000012.11:g.81887567AT[2]ACA[1], NC_000012.11:g.81887567AT[2]AC[2]A[1], NC_000012.11:g.81887567AT[2]AGACACA[1], NC_000012.11:g.81887567AT[3]ACA[1], NC_000012.11:g.81887567AT[3]AC[2]A[1], NC_000012.11:g.81887567AT[3]ACATATACA[1], NC_000012.11:g.81887567AT[3]AGACACA[1], NC_000012.11:g.81887567AT[4]ACA[1], NC_000012.11:g.81887567AT[4]AC[2]A[1], NC_000012.11:g.81887567AT[4]ACATATACA[1], NC_000012.11:g.81887567AT[4]AGACACA[1], NC_000012.11:g.81887567AT[5]ACA[1], NC_000012.11:g.81887567AT[5]AGACACA[1], NC_000012.11:g.81887567AT[6]ACA[1], NC_000012.11:g.81887567AT[6]AGACACA[1], NC_000012.11:g.81887567AT[7]ACA[1], NC_000012.11:g.81887567AT[8]ACA[1], NC_000012.11:g.81887567AT[9]ACA[1], NC_000012.11:g.81887567AT[10]ACA[1], NC_000012.11:g.81887567AT[11]ACA[1]

Select item 149151547217.

rs1491515472 has merged into rs60363527 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:81603835 (GRCh38)
12:81997614 (GRCh37)
Canonical SPDI:: NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:81603825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPFIA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3163/1584 (1000Genomes)
HGVS:: NC_000012.12:g.81603835_81603846del, NC_000012.12:g.81603840_81603846del, NC_000012.12:g.81603841_81603846del, NC_000012.12:g.81603842_81603846del, NC_000012.12:g.81603843_81603846del, NC_000012.12:g.81603844_81603846del, NC_000012.12:g.81603845_81603846del, NC_000012.12:g.81603846del, NC_000012.12:g.81603846dup, NC_000012.12:g.81603845_81603846dup, NC_000012.12:g.81603844_81603846dup, NC_000012.12:g.81603843_81603846dup, NC_000012.12:g.81603842_81603846dup, NC_000012.12:g.81603840_81603846dup, NC_000012.12:g.81603839_81603846dup, NC_000012.12:g.81603846_81603847insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.81997614_81997625del, NC_000012.11:g.81997619_81997625del, NC_000012.11:g.81997620_81997625del, NC_000012.11:g.81997621_81997625del, NC_000012.11:g.81997622_81997625del, NC_000012.11:g.81997623_81997625del, NC_000012.11:g.81997624_81997625del, NC_000012.11:g.81997625del, NC_000012.11:g.81997625dup, NC_000012.11:g.81997624_81997625dup, NC_000012.11:g.81997623_81997625dup, NC_000012.11:g.81997622_81997625dup, NC_000012.11:g.81997621_81997625dup, NC_000012.11:g.81997619_81997625dup, NC_000012.11:g.81997618_81997625dup, NC_000012.11:g.81997625_81997626insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149151281418.

rs1491512814 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 12:81442847 (GRCh38)
12:81836626 (GRCh37)
Canonical SPDI:: NC_000012.12:81442846:TC:
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
-=0.00027/23 (GnomAD)
HGVS:: NC_000012.12:g.81442847_81442848del, NC_000012.11:g.81836626_81836627del

Select item 149151171019.

rs1491511710 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:81716551 (GRCh38)
12:82110330 (GRCh37)
Canonical SPDI:: NC_000012.12:81716550:AA:
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000012.12:g.81716551_81716552del, NC_000012.11:g.82110330_82110331del

Select item 149149944920.

rs1491499449 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:81585013 (GRCh38)
12:81978793 (GRCh37)
Canonical SPDI:: NC_000012.12:81585013:A:AA
Gene:: PPFIA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000012.12:g.81585014dup, NC_000012.11:g.81978793dup

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