SNP Links for Nucleotide (Select 1027250651) - SNP

Links from Nucleotide

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Select item 14915809401.

rs1491580940 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:73479884 (GRCh38)
3:73529035 (GRCh37)
Canonical SPDI:: NC_000003.12:73479882:GCG:G
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.73479884_73479885del, NC_000003.11:g.73529035_73529036del, NG_047128.1:g.150038_150039del

Select item 14915700022.

rs1491570002 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:73424367 (GRCh38)
3:73473518 (GRCh37)
Canonical SPDI:: NC_000003.12:73424366:CA:
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.73424367_73424368del, NC_000003.11:g.73473518_73473519del, NG_047128.1:g.205554_205555del

Select item 14915397683.

rs1491539768 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:73479388 (GRCh38)
3:73528539 (GRCh37)
Canonical SPDI:: NC_000003.12:73479387:GT:
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0007/3 (ALFA)
HGVS:: NC_000003.12:g.73479388_73479389del, NC_000003.11:g.73528539_73528540del, NG_047128.1:g.150533_150534del

Select item 14915310624.

rs1491531062 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:73464703 (GRCh38)
3:73513854 (GRCh37)
Canonical SPDI:: NC_000003.12:73464702:TA:
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.73464703_73464704del, NC_000003.11:g.73513854_73513855del, NG_047128.1:g.165218_165219del

Select item 14915197815.

rs1491519781 has merged into rs374408287 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 3:73466335 (GRCh38)
3:73515486 (GRCh37)
Canonical SPDI:: NC_000003.12:73466334:GGGGGGG:GGGGGG,NC_000003.12:73466334:GGGGGGG:GGGGGGGG
Gene:: PDZRN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.05028/683 (ALFA)
-=0.05568/102 (Korea1K)
-=0.12375/74 (NorthernSweden)
-=0.26418/1323 (1000Genomes)
HGVS:: NC_000003.12:g.73466341del, NC_000003.12:g.73466341dup, NC_000003.11:g.73515492del, NC_000003.11:g.73515492dup, NG_047128.1:g.163587del, NG_047128.1:g.163587dup

Select item 14915173966.

rs1491517396 has merged into rs1303709177 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 3:73603886 (GRCh38)
3:73653037 (GRCh37)
Canonical SPDI:: NC_000003.12:73603884:ATA:A,NC_000003.12:73603884:ATA:ATATA
Gene:: PDZRN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
-=0.001892/31 (TOMMO)
-=0.003448/2 (NorthernSweden)
-=0.011551/21 (Korea1K)
-=0.056565/218 (ALSPAC)
-=0.058252/216 (TWINSUK)
HGVS:: NC_000003.12:g.73603886_73603887del, NC_000003.12:g.73603886_73603887dup, NC_000003.11:g.73653037_73653038del, NC_000003.11:g.73653037_73653038dup, NG_047128.1:g.26036_26037del, NG_047128.1:g.26036_26037dup

Select item 14915101527.

rs1491510152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCT [Show Flanks]
Chromosome:: 3:73386260 (GRCh38)
3:73435412 (GRCh37)
Canonical SPDI:: NC_000003.12:73386260:TCTGTCT:TCTGTCTGTCT
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTGTCTGTCT=0./0 (ALFA)
TCTG=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.73386264_73386267dup, NC_000003.11:g.73435415_73435418dup, NG_047128.1:g.243658_243661dup

Select item 14915019758.

rs1491501975 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:73390956 (GRCh38)
3:73440107 (GRCh37)
Canonical SPDI:: NC_000003.12:73390955:TG:
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0007/3 (ALFA)
-=0.0007/3 (Estonian)
HGVS:: NC_000003.12:g.73390956_73390957del, NC_000003.11:g.73440107_73440108del, NG_047128.1:g.238965_238966del

Select item 14914679649.

rs1491467964 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:73467534 (GRCh38)
3:73516686 (GRCh37)
Canonical SPDI:: NC_000003.12:73467534:T:TT
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.73467535dup, NC_000003.11:g.73516686dup, NG_047128.1:g.162387dup

Select item 149146591810.

rs1491465918 has merged into rs1168662549 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:73540098 (GRCh38)
3:73589249 (GRCh37)
Canonical SPDI:: NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73540087:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDZRN3 (Varview), LOC101927296 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.73540098_73540111del, NC_000003.12:g.73540099_73540111del, NC_000003.12:g.73540102_73540111del, NC_000003.12:g.73540103_73540111del, NC_000003.12:g.73540104_73540111del, NC_000003.12:g.73540105_73540111del, NC_000003.12:g.73540106_73540111del, NC_000003.12:g.73540107_73540111del, NC_000003.12:g.73540108_73540111del, NC_000003.12:g.73540109_73540111del, NC_000003.12:g.73540110_73540111del, NC_000003.12:g.73540111del, NC_000003.12:g.73540111dup, NC_000003.12:g.73540110_73540111dup, NC_000003.12:g.73540109_73540111dup, NC_000003.12:g.73540108_73540111dup, NC_000003.12:g.73540107_73540111dup, NC_000003.12:g.73540106_73540111dup, NC_000003.12:g.73540105_73540111dup, NC_000003.12:g.73540097_73540111dup, NC_000003.12:g.73540088_73540111A[30]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.73540088_73540111A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.73540088_73540111A[27]TAAAAAAAAA[2]A[18], NC_000003.12:g.73540088_73540111A[27]TTATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.73589249_73589262del, NC_000003.11:g.73589250_73589262del, NC_000003.11:g.73589253_73589262del, NC_000003.11:g.73589254_73589262del, NC_000003.11:g.73589255_73589262del, NC_000003.11:g.73589256_73589262del, NC_000003.11:g.73589257_73589262del, NC_000003.11:g.73589258_73589262del, NC_000003.11:g.73589259_73589262del, NC_000003.11:g.73589260_73589262del, NC_000003.11:g.73589261_73589262del, NC_000003.11:g.73589262del, NC_000003.11:g.73589262dup, NC_000003.11:g.73589261_73589262dup, NC_000003.11:g.73589260_73589262dup, NC_000003.11:g.73589259_73589262dup, NC_000003.11:g.73589258_73589262dup, NC_000003.11:g.73589257_73589262dup, NC_000003.11:g.73589256_73589262dup, NC_000003.11:g.73589248_73589262dup, NC_000003.11:g.73589239_73589262A[30]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.73589239_73589262A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.73589239_73589262A[27]TAAAAAAAAA[2]A[18], NC_000003.11:g.73589239_73589262A[27]TTATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_047128.1:g.89821_89834del, NG_047128.1:g.89822_89834del, NG_047128.1:g.89825_89834del, NG_047128.1:g.89826_89834del, NG_047128.1:g.89827_89834del, NG_047128.1:g.89828_89834del, NG_047128.1:g.89829_89834del, NG_047128.1:g.89830_89834del, NG_047128.1:g.89831_89834del, NG_047128.1:g.89832_89834del, NG_047128.1:g.89833_89834del, NG_047128.1:g.89834del, NG_047128.1:g.89834dup, NG_047128.1:g.89833_89834dup, NG_047128.1:g.89832_89834dup, NG_047128.1:g.89831_89834dup, NG_047128.1:g.89830_89834dup, NG_047128.1:g.89829_89834dup, NG_047128.1:g.89828_89834dup, NG_047128.1:g.89820_89834dup, NG_047128.1:g.89811_89834T[25]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_047128.1:g.89811_89834T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_047128.1:g.89811_89834T[27]ATTTTTTTTT[2]T[18], NG_047128.1:g.89811_89834T[25]ATAATTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149145092011.

rs1491450920 has merged into rs1184407369 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:73453419 (GRCh38)
3:73502570 (GRCh37)
Canonical SPDI:: NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73453404:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDZRN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.73453419_73453423del, NC_000003.12:g.73453420_73453423del, NC_000003.12:g.73453421_73453423del, NC_000003.12:g.73453422_73453423del, NC_000003.12:g.73453423del, NC_000003.12:g.73453423dup, NC_000003.12:g.73453422_73453423dup, NC_000003.12:g.73453421_73453423dup, NC_000003.12:g.73453420_73453423dup, NC_000003.12:g.73453419_73453423dup, NC_000003.12:g.73453418_73453423dup, NC_000003.12:g.73453417_73453423dup, NC_000003.12:g.73453416_73453423dup, NC_000003.12:g.73453415_73453423dup, NC_000003.12:g.73453414_73453423dup, NC_000003.12:g.73453413_73453423dup, NC_000003.12:g.73453412_73453423dup, NC_000003.12:g.73453411_73453423dup, NC_000003.12:g.73453410_73453423dup, NC_000003.12:g.73453409_73453423dup, NC_000003.12:g.73453407_73453423dup, NC_000003.12:g.73453406_73453423dup, NC_000003.12:g.73453405_73453423dup, NC_000003.12:g.73453423_73453424insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.73453423_73453424insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.73453423_73453424insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.73453423_73453424insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.73502570_73502574del, NC_000003.11:g.73502571_73502574del, NC_000003.11:g.73502572_73502574del, NC_000003.11:g.73502573_73502574del, NC_000003.11:g.73502574del, NC_000003.11:g.73502574dup, NC_000003.11:g.73502573_73502574dup, NC_000003.11:g.73502572_73502574dup, NC_000003.11:g.73502571_73502574dup, NC_000003.11:g.73502570_73502574dup, NC_000003.11:g.73502569_73502574dup, NC_000003.11:g.73502568_73502574dup, NC_000003.11:g.73502567_73502574dup, NC_000003.11:g.73502566_73502574dup, NC_000003.11:g.73502565_73502574dup, NC_000003.11:g.73502564_73502574dup, NC_000003.11:g.73502563_73502574dup, NC_000003.11:g.73502562_73502574dup, NC_000003.11:g.73502561_73502574dup, NC_000003.11:g.73502560_73502574dup, NC_000003.11:g.73502558_73502574dup, NC_000003.11:g.73502557_73502574dup, NC_000003.11:g.73502556_73502574dup, NC_000003.11:g.73502574_73502575insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.73502574_73502575insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.73502574_73502575insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.73502574_73502575insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.176513_176517del, NG_047128.1:g.176514_176517del, NG_047128.1:g.176515_176517del, NG_047128.1:g.176516_176517del, NG_047128.1:g.176517del, NG_047128.1:g.176517dup, NG_047128.1:g.176516_176517dup, NG_047128.1:g.176515_176517dup, NG_047128.1:g.176514_176517dup, NG_047128.1:g.176513_176517dup, NG_047128.1:g.176512_176517dup, NG_047128.1:g.176511_176517dup, NG_047128.1:g.176510_176517dup, NG_047128.1:g.176509_176517dup, NG_047128.1:g.176508_176517dup, NG_047128.1:g.176507_176517dup, NG_047128.1:g.176506_176517dup, NG_047128.1:g.176505_176517dup, NG_047128.1:g.176504_176517dup, NG_047128.1:g.176503_176517dup, NG_047128.1:g.176501_176517dup, NG_047128.1:g.176500_176517dup, NG_047128.1:g.176499_176517dup, NG_047128.1:g.176517_176518insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047128.1:g.176517_176518insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047128.1:g.176517_176518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047128.1:g.176517_176518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149144825012.

rs1491448250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 3:73453425 (GRCh38)
3:73502577 (GRCh37)
Canonical SPDI:: NC_000003.12:73453425:AA:AACAA
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACAA=0.00337/40 (ALFA)
AAC=0.00025/2 (GnomAD)
HGVS:: NC_000003.12:g.73453427_73453428insCAA, NC_000003.11:g.73502578_73502579insCAA, NG_047128.1:g.176496_176497insGTT

Select item 149144158913.

rs1491441589 has merged into rs56095919 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 3:73442709 (GRCh38)
3:73491860 (GRCh37)
Canonical SPDI:: NC_000003.12:73442697:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:73442697:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:73442697:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:73442697:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:73442697:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:73442697:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:73442697:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: PDZRN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.73442709_73442711del, NC_000003.12:g.73442710_73442711del, NC_000003.12:g.73442711del, NC_000003.12:g.73442711dup, NC_000003.12:g.73442710_73442711dup, NC_000003.12:g.73442709_73442711dup, NC_000003.12:g.73442708_73442711dup, NC_000003.11:g.73491860_73491862del, NC_000003.11:g.73491861_73491862del, NC_000003.11:g.73491862del, NC_000003.11:g.73491862dup, NC_000003.11:g.73491861_73491862dup, NC_000003.11:g.73491860_73491862dup, NC_000003.11:g.73491859_73491862dup, NG_047128.1:g.187222_187224del, NG_047128.1:g.187223_187224del, NG_047128.1:g.187224del, NG_047128.1:g.187224dup, NG_047128.1:g.187223_187224dup, NG_047128.1:g.187222_187224dup, NG_047128.1:g.187221_187224dup

Select item 149143843914.

rs1491438439 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:73402961 (GRCh38)
3:73452112 (GRCh37)
Canonical SPDI:: NC_000003.12:73402960:TG:
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.73402961_73402962del, NC_000003.11:g.73452112_73452113del, NG_047128.1:g.226960_226961del

Select item 149143258715.

rs1491432587 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA,ATATATGTATATATA,ATATG [Show Flanks]
Chromosome:: 3:73563014 (GRCh38)
3:73612166 (GRCh37)
Canonical SPDI:: NC_000003.12:73563014::A,NC_000003.12:73563014::ATA,NC_000003.12:73563014::ATATA,NC_000003.12:73563014::ATATATA,NC_000003.12:73563014::ATATATATA,NC_000003.12:73563014::ATATATATATA,NC_000003.12:73563014::ATATATATATATA,NC_000003.12:73563014::ATATATATATATATA,NC_000003.12:73563014::ATATATATATATATATA,NC_000003.12:73563014::ATATATATATATATATATA,NC_000003.12:73563014::ATATATATATATATATATATA,NC_000003.12:73563014::ATATATATATATATATATATATA,NC_000003.12:73563014::ATATATATATATATATATATATATA,NC_000003.12:73563014::ATATATATATATATATATATATATATA,NC_000003.12:73563014::ATATATATATATATATATATATATATATATA,NC_000003.12:73563014::ATATATGTATATATA,NC_000003.12:73563014::ATATG
Gene:: PDZRN3 (Varview), LOC101927296 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000003.12:g.73563014_73563015insA, NC_000003.12:g.73563014_73563015insATA, NC_000003.12:g.73563014_73563015insATATA, NC_000003.12:g.73563014_73563015insATATATA, NC_000003.12:g.73563014_73563015insATATATATA, NC_000003.12:g.73563014_73563015insATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATATATATATATATATATATATATATA, NC_000003.12:g.73563014_73563015insATATATGTATATATA, NC_000003.12:g.73563014_73563015insATATG, NC_000003.11:g.73612165_73612166insA, NC_000003.11:g.73612165_73612166insATA, NC_000003.11:g.73612165_73612166insATATA, NC_000003.11:g.73612165_73612166insATATATA, NC_000003.11:g.73612165_73612166insATATATATA, NC_000003.11:g.73612165_73612166insATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATATATATATATATATATATATATATA, NC_000003.11:g.73612165_73612166insATATATGTATATATA, NC_000003.11:g.73612165_73612166insATATG, NG_047128.1:g.66907_66908insT, NG_047128.1:g.66907_66908insTAT, NG_047128.1:g.66907_66908insTATAT, NG_047128.1:g.66907_66908insTATATAT, NG_047128.1:g.66907_66908insTATATATAT, NG_047128.1:g.66907_66908insTATATATATAT, NG_047128.1:g.66907_66908insTATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATATATATATATATAT, NG_047128.1:g.66907_66908insTATATATATATATATATATATATATATATAT, NG_047128.1:g.66907_66908insTATATATACATATAT, NG_047128.1:g.66907_66908insCATAT

Select item 149142346116.

rs1491423461 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:73464703 (GRCh38)
3:73513855 (GRCh37)
Canonical SPDI:: NC_000003.12:73464703:AAAAAAA:AAAAAAAA
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.73464710dup, NC_000003.11:g.73513861dup, NG_047128.1:g.165218dup

Select item 149141288817.

rs1491412888 has merged into rs371602592 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:73489585 (GRCh38)
3:73538736 (GRCh37)
Canonical SPDI:: NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:73489575:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PDZRN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000003.12:g.73489585_73489590del, NC_000003.12:g.73489586_73489590del, NC_000003.12:g.73489587_73489590del, NC_000003.12:g.73489588_73489590del, NC_000003.12:g.73489589_73489590del, NC_000003.12:g.73489590del, NC_000003.12:g.73489590dup, NC_000003.12:g.73489589_73489590dup, NC_000003.12:g.73489588_73489590dup, NC_000003.12:g.73489587_73489590dup, NC_000003.12:g.73489576_73489590T[19]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.73489586_73489590dup, NC_000003.12:g.73489585_73489590dup, NC_000003.12:g.73489584_73489590dup, NC_000003.12:g.73489583_73489590dup, NC_000003.12:g.73489582_73489590dup, NC_000003.12:g.73489581_73489590dup, NC_000003.12:g.73489580_73489590dup, NC_000003.12:g.73489579_73489590dup, NC_000003.12:g.73489578_73489590dup, NC_000003.12:g.73489577_73489590dup, NC_000003.12:g.73489576_73489590dup, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.73489590_73489591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538736_73538741del, NC_000003.11:g.73538737_73538741del, NC_000003.11:g.73538738_73538741del, NC_000003.11:g.73538739_73538741del, NC_000003.11:g.73538740_73538741del, NC_000003.11:g.73538741del, NC_000003.11:g.73538741dup, NC_000003.11:g.73538740_73538741dup, NC_000003.11:g.73538739_73538741dup, NC_000003.11:g.73538738_73538741dup, NC_000003.11:g.73538727_73538741T[19]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.73538737_73538741dup, NC_000003.11:g.73538736_73538741dup, NC_000003.11:g.73538735_73538741dup, NC_000003.11:g.73538734_73538741dup, NC_000003.11:g.73538733_73538741dup, NC_000003.11:g.73538732_73538741dup, NC_000003.11:g.73538731_73538741dup, NC_000003.11:g.73538730_73538741dup, NC_000003.11:g.73538729_73538741dup, NC_000003.11:g.73538728_73538741dup, NC_000003.11:g.73538727_73538741dup, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.73538741_73538742insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047128.1:g.140341_140346del, NG_047128.1:g.140342_140346del, NG_047128.1:g.140343_140346del, NG_047128.1:g.140344_140346del, NG_047128.1:g.140345_140346del, NG_047128.1:g.140346del, NG_047128.1:g.140346dup, NG_047128.1:g.140345_140346dup, NG_047128.1:g.140344_140346dup, NG_047128.1:g.140343_140346dup, NG_047128.1:g.140332_140346A[26]GAAAAAAAAAAAAAAAAAAA[1], NG_047128.1:g.140342_140346dup, NG_047128.1:g.140341_140346dup, NG_047128.1:g.140340_140346dup, NG_047128.1:g.140339_140346dup, NG_047128.1:g.140338_140346dup, NG_047128.1:g.140337_140346dup, NG_047128.1:g.140336_140346dup, NG_047128.1:g.140335_140346dup, NG_047128.1:g.140334_140346dup, NG_047128.1:g.140333_140346dup, NG_047128.1:g.140332_140346dup, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047128.1:g.140346_140347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149140455918.

rs1491404559 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT [Show Flanks]
Chromosome:: 3:73452833 (GRCh38)
3:73501985 (GRCh37)
Canonical SPDI:: NC_000003.12:73452833:T:TGTGT
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
TGTG=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.73452834_73452835insGTGT, NC_000003.11:g.73501985_73501986insGTGT, NG_047128.1:g.177088_177089insCACA

Select item 149139588319.

rs1491395883 has merged into rs141660921 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 3:73523463 (GRCh38)
3:73572614 (GRCh37)
Canonical SPDI:: NC_000003.12:73523453:TATATATATATAT:TATATATAT,NC_000003.12:73523453:TATATATATATAT:TATATATATAT,NC_000003.12:73523453:TATATATATATAT:TATATATATATATAT,NC_000003.12:73523453:TATATATATATAT:TATATATATATATATAT,NC_000003.12:73523453:TATATATATATAT:TATATATATATATATATAT
Gene:: PDZRN3 (Varview), LOC101927296 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.125/5 (GENOME_DK)
TA=0.15192/680 (Estonian)
TA=0.15431/154 (GoNL)
TA=0.17167/103 (NorthernSweden)
TA=0.18071/905 (1000Genomes)
HGVS:: NC_000003.12:g.73523455AT[4], NC_000003.12:g.73523455AT[5], NC_000003.12:g.73523455AT[7], NC_000003.12:g.73523455AT[8], NC_000003.12:g.73523455AT[9], NC_000003.11:g.73572606AT[4], NC_000003.11:g.73572606AT[5], NC_000003.11:g.73572606AT[7], NC_000003.11:g.73572606AT[8], NC_000003.11:g.73572606AT[9], NG_047128.1:g.106457TA[4], NG_047128.1:g.106457TA[5], NG_047128.1:g.106457TA[7], NG_047128.1:g.106457TA[8], NG_047128.1:g.106457TA[9]

Select item 149137984820.

rs1491379848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:73453405 (GRCh38)
3:73502557 (GRCh37)
Canonical SPDI:: NC_000003.12:73453405:AAAAAAAAAAAAAA:AAAAAAAAAAAAAACAAAAAAAAAAAAAA
Gene:: PDZRN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AAAAAAAAAAAAAAC=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.73453406_73453419A[14]CAAAAAAAAAAAAAA[1], NC_000003.11:g.73502557_73502570A[14]CAAAAAAAAAAAAAA[1], NG_047128.1:g.176503_176516T[14]GTTTTTTTTTTTTTT[1]

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