SNP Links for Gene (Select 118987) - SNP

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Select item 14915641281.

rs1491564128 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:117368875 (GRCh38)
10:119128386 (GRCh37)
Canonical SPDI:: NC_000010.11:117368874:TG:
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003397/50 (ALFA)
-=0.001066/132 (GnomAD)
-=0.003468/58 (TOMMO)
HGVS:: NC_000010.11:g.117368875_117368876del, NC_000010.10:g.119128386_119128387del

Select item 14914669242.

rs1491466924 has merged into rs11313668 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 10:117365132 (GRCh38)
10:119124643 (GRCh37)
Canonical SPDI:: NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAA,NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAAA,NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3723/1553 (1000Genomes)
HGVS:: NC_000010.11:g.117365132_117365133del, NC_000010.11:g.117365133del, NC_000010.11:g.117365133dup, NC_000010.11:g.117365132_117365133dup, NC_000010.10:g.119124643_119124644del, NC_000010.10:g.119124644del, NC_000010.10:g.119124644dup, NC_000010.10:g.119124643_119124644dup

Select item 14913101073.

rs1491310107 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAAAA [Show Flanks]
Chromosome:: 10:117333118 (GRCh38)
10:119092630 (GRCh37)
Canonical SPDI:: NC_000010.11:117333118:AAAAAAAAAA:AAAAAAAAAACAAAAAAAAAA
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAACAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAC=0.00001/1 (GnomAD)
HGVS:: NC_000010.11:g.117333119_117333128A[10]CAAAAAAAAAA[1], NC_000010.10:g.119092630_119092639A[10]CAAAAAAAAAA[1]

Select item 14913010304.

rs1491301030 has merged into rs60898350 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:117324217 (GRCh38)
10:119083728 (GRCh37)
Canonical SPDI:: NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117324208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.117324217_117324234del, NC_000010.11:g.117324219_117324234del, NC_000010.11:g.117324220_117324234del, NC_000010.11:g.117324221_117324234del, NC_000010.11:g.117324222_117324234del, NC_000010.11:g.117324223_117324234del, NC_000010.11:g.117324224_117324234del, NC_000010.11:g.117324227_117324234del, NC_000010.11:g.117324228_117324234del, NC_000010.11:g.117324229_117324234del, NC_000010.11:g.117324230_117324234del, NC_000010.11:g.117324231_117324234del, NC_000010.11:g.117324232_117324234del, NC_000010.11:g.117324233_117324234del, NC_000010.11:g.117324234del, NC_000010.11:g.117324234dup, NC_000010.11:g.117324233_117324234dup, NC_000010.11:g.117324232_117324234dup, NC_000010.11:g.117324231_117324234dup, NC_000010.11:g.117324230_117324234dup, NC_000010.11:g.117324229_117324234dup, NC_000010.11:g.117324228_117324234dup, NC_000010.11:g.117324227_117324234dup, NC_000010.11:g.117324226_117324234dup, NC_000010.11:g.117324216_117324234dup, NC_000010.11:g.117324234_117324235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.119083728_119083745del, NC_000010.10:g.119083730_119083745del, NC_000010.10:g.119083731_119083745del, NC_000010.10:g.119083732_119083745del, NC_000010.10:g.119083733_119083745del, NC_000010.10:g.119083734_119083745del, NC_000010.10:g.119083735_119083745del, NC_000010.10:g.119083738_119083745del, NC_000010.10:g.119083739_119083745del, NC_000010.10:g.119083740_119083745del, NC_000010.10:g.119083741_119083745del, NC_000010.10:g.119083742_119083745del, NC_000010.10:g.119083743_119083745del, NC_000010.10:g.119083744_119083745del, NC_000010.10:g.119083745del, NC_000010.10:g.119083745dup, NC_000010.10:g.119083744_119083745dup, NC_000010.10:g.119083743_119083745dup, NC_000010.10:g.119083742_119083745dup, NC_000010.10:g.119083741_119083745dup, NC_000010.10:g.119083740_119083745dup, NC_000010.10:g.119083739_119083745dup, NC_000010.10:g.119083738_119083745dup, NC_000010.10:g.119083737_119083745dup, NC_000010.10:g.119083727_119083745dup, NC_000010.10:g.119083745_119083746insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912646185.

rs1491264618 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:117357844 (GRCh38)
10:119117355 (GRCh37)
Canonical SPDI:: NC_000010.11:117357841:TGTG:TG
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0.000071/1 (ALFA)
-=0.000052/7 (GnomAD)
HGVS:: NC_000010.11:g.117357842TG[1], NC_000010.10:g.119117353TG[1]

Select item 14912243366.

rs1491224336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 10:117294337 (GRCh38)
10:119053849 (GRCh37)
Canonical SPDI:: NC_000010.11:117294337:A:ACA
Gene:: PDZD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.00011/2 (TOMMO)
HGVS:: NC_000010.11:g.117294338_117294339insCA, NC_000010.10:g.119053849_119053850insCA, XM_047424576.1:c.*3842_*3843insGT, XR_007061943.1:n.2652_2653insGT

Select item 14912188777.

rs1491218877 has merged into rs55833923 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:117350276 (GRCh38)
10:119109787 (GRCh37)
Canonical SPDI:: NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:117350268:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.117350276_117350284del, NC_000010.11:g.117350280_117350284del, NC_000010.11:g.117350281_117350284del, NC_000010.11:g.117350282_117350284del, NC_000010.11:g.117350283_117350284del, NC_000010.11:g.117350284del, NC_000010.11:g.117350284dup, NC_000010.11:g.117350283_117350284dup, NC_000010.11:g.117350282_117350284dup, NC_000010.11:g.117350276_117350284dup, NC_000010.10:g.119109787_119109795del, NC_000010.10:g.119109791_119109795del, NC_000010.10:g.119109792_119109795del, NC_000010.10:g.119109793_119109795del, NC_000010.10:g.119109794_119109795del, NC_000010.10:g.119109795del, NC_000010.10:g.119109795dup, NC_000010.10:g.119109794_119109795dup, NC_000010.10:g.119109793_119109795dup, NC_000010.10:g.119109787_119109795dup

Select item 14911924178.

rs1491192417 has merged into rs752527474 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:117333128 (GRCh38)
10:119092639 (GRCh37)
Canonical SPDI:: NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:117333117:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.117333128_117333143del, NC_000010.11:g.117333129_117333143del, NC_000010.11:g.117333130_117333143del, NC_000010.11:g.117333131_117333143del, NC_000010.11:g.117333132_117333143del, NC_000010.11:g.117333133_117333143del, NC_000010.11:g.117333134_117333143del, NC_000010.11:g.117333137_117333143del, NC_000010.11:g.117333138_117333143del, NC_000010.11:g.117333139_117333143del, NC_000010.11:g.117333140_117333143del, NC_000010.11:g.117333141_117333143del, NC_000010.11:g.117333142_117333143del, NC_000010.11:g.117333143del, NC_000010.11:g.117333143dup, NC_000010.11:g.117333142_117333143dup, NC_000010.11:g.117333141_117333143dup, NC_000010.11:g.117333140_117333143dup, NC_000010.11:g.117333139_117333143dup, NC_000010.11:g.117333138_117333143dup, NC_000010.11:g.117333137_117333143dup, NC_000010.11:g.117333136_117333143dup, NC_000010.11:g.117333135_117333143dup, NC_000010.11:g.117333134_117333143dup, NC_000010.11:g.117333133_117333143dup, NC_000010.11:g.117333132_117333143dup, NC_000010.10:g.119092639_119092654del, NC_000010.10:g.119092640_119092654del, NC_000010.10:g.119092641_119092654del, NC_000010.10:g.119092642_119092654del, NC_000010.10:g.119092643_119092654del, NC_000010.10:g.119092644_119092654del, NC_000010.10:g.119092645_119092654del, NC_000010.10:g.119092648_119092654del, NC_000010.10:g.119092649_119092654del, NC_000010.10:g.119092650_119092654del, NC_000010.10:g.119092651_119092654del, NC_000010.10:g.119092652_119092654del, NC_000010.10:g.119092653_119092654del, NC_000010.10:g.119092654del, NC_000010.10:g.119092654dup, NC_000010.10:g.119092653_119092654dup, NC_000010.10:g.119092652_119092654dup, NC_000010.10:g.119092651_119092654dup, NC_000010.10:g.119092650_119092654dup, NC_000010.10:g.119092649_119092654dup, NC_000010.10:g.119092648_119092654dup, NC_000010.10:g.119092647_119092654dup, NC_000010.10:g.119092646_119092654dup, NC_000010.10:g.119092645_119092654dup, NC_000010.10:g.119092644_119092654dup, NC_000010.10:g.119092643_119092654dup

Select item 14911876179.

rs1491187617 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:117324208 (GRCh38)
10:119083719 (GRCh37)
Canonical SPDI:: NC_000010.11:117324207:CA:
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.117324208_117324209del, NC_000010.10:g.119083719_119083720del

Select item 149115083810.

rs1491150838 [Homo sapiens]

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

Select item 149108463011.

rs1491084630 has merged into rs57766522 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAA [Show Flanks]
Chromosome:: 10:117309407 (GRCh38)
10:119068918 (GRCh37)
Canonical SPDI:: NC_000010.11:117309394:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:117309394:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:117309394:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:117309394:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.014925/6 (NorthernSweden)
-=0.047561/12589 (TOPMED)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000010.11:g.117309407_117309408del, NC_000010.11:g.117309408del, NC_000010.11:g.117309408dup, NC_000010.11:g.117309406_117309408dup, NC_000010.10:g.119068918_119068919del, NC_000010.10:g.119068919del, NC_000010.10:g.119068919dup, NC_000010.10:g.119068917_119068919dup

Select item 149106535912.

rs1491065359 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 10:117350270 (GRCh38)
10:119109782 (GRCh37)
Canonical SPDI:: NC_000010.11:117350270:T:TCT
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.00015/5 (GnomAD)
HGVS:: NC_000010.11:g.117350271_117350272insCT, NC_000010.10:g.119109782_119109783insCT

Select item 149103112813.

rs1491031128 has merged into rs11313668 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 10:117365132 (GRCh38)
10:119124643 (GRCh37)
Canonical SPDI:: NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAA,NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAAA,NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:117365123:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3723/1553 (1000Genomes)
HGVS:: NC_000010.11:g.117365132_117365133del, NC_000010.11:g.117365133del, NC_000010.11:g.117365133dup, NC_000010.11:g.117365132_117365133dup, NC_000010.10:g.119124643_119124644del, NC_000010.10:g.119124644del, NC_000010.10:g.119124644dup, NC_000010.10:g.119124643_119124644dup

Select item 149100935014.

rs1491009350 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 10:117364184 (GRCh38)
10:119123696 (GRCh37)
Canonical SPDI:: NC_000010.11:117364184:T:TCT
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.117364185_117364186insCT, NC_000010.10:g.119123696_119123697insCT

Select item 149096810415.

rs1490968104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:117295929 (GRCh38)
10:119055440 (GRCh37)
Canonical SPDI:: NC_000010.11:117295928:G:A
Gene:: PDZD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000010.11:g.117295929G>A, NC_000010.10:g.119055440G>A, XM_047424576.1:c.*2251C>T

Select item 149094781516.

rs1490947815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:117317116 (GRCh38)
10:119076627 (GRCh37)
Canonical SPDI:: NC_000010.11:117317115:G:A
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.117317116G>A, NC_000010.10:g.119076627G>A

Select item 149092482417.

rs1490924824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:117353720 (GRCh38)
10:119113231 (GRCh37)
Canonical SPDI:: NC_000010.11:117353719:G:C
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.117353720G>C, NC_000010.10:g.119113231G>C

Select item 149090131618.

rs1490901316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:117314461 (GRCh38)
10:119073972 (GRCh37)
Canonical SPDI:: NC_000010.11:117314460:C:T
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.117314461C>T, NC_000010.10:g.119073972C>T

Select item 149086680819.

rs1490866808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:117311782 (GRCh38)
10:119071293 (GRCh37)
Canonical SPDI:: NC_000010.11:117311781:T:A
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.117311782T>A, NC_000010.10:g.119071293T>A

Select item 149085924320.

rs1490859243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:117345238 (GRCh38)
10:119104749 (GRCh37)
Canonical SPDI:: NC_000010.11:117345237:G:A,NC_000010.11:117345237:G:T
Gene:: PDZD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.117345238G>A, NC_000010.11:g.117345238G>T, NC_000010.10:g.119104749G>A, NC_000010.10:g.119104749G>T

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