SNP Links for Gene (Select 84271) - SNP

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Select item 14915573951.

rs1491557395 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:42598249 (GRCh38)
22:42994255 (GRCh37)
Canonical SPDI:: NC_000022.11:42598246:ATAT:AT
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000032/4 (GnomAD)
HGVS:: NC_000022.11:g.42598247AT[1], NC_000022.10:g.42994253AT[1]

Select item 14914697382.

rs1491469738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:42598247 (GRCh38)
22:42994254 (GRCh37)
Canonical SPDI:: NC_000022.11:42598247:T:TT
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42598248dup, NC_000022.10:g.42994254dup

Select item 14913909543.

rs1491390954 has merged into rs200089986 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 22:42608262 (GRCh38)
22:43004268 (GRCh37)
Canonical SPDI:: NC_000022.11:42608253:CCCCCCCCCCC:CCCCCCCC,NC_000022.11:42608253:CCCCCCCCCCC:CCCCCCCCC,NC_000022.11:42608253:CCCCCCCCCCC:CCCCCCCCCC,NC_000022.11:42608253:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:42608253:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000022.11:42608253:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: POLDIP3 (Varview), LOC124905127 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
-=0.11866/440 (TWINSUK)
-=0.125/5 (GENOME_DK)
-=0.12844/495 (ALSPAC)
-=0.1723/102 (NorthernSweden)
-=0.33906/1698 (1000Genomes)
HGVS:: NC_000022.11:g.42608262_42608264del, NC_000022.11:g.42608263_42608264del, NC_000022.11:g.42608264del, NC_000022.11:g.42608264dup, NC_000022.11:g.42608263_42608264dup, NC_000022.11:g.42608262_42608264dup, NC_000022.10:g.43004268_43004270del, NC_000022.10:g.43004269_43004270del, NC_000022.10:g.43004270del, NC_000022.10:g.43004270dup, NC_000022.10:g.43004269_43004270dup, NC_000022.10:g.43004268_43004270dup

Select item 14912428154.

rs1491242815 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:42608264 (GRCh38)
22:43004270 (GRCh37)
Canonical SPDI:: NC_000022.11:42608263:CA:
Gene:: POLDIP3 (Varview), LOC124905127 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.42608264_42608265del, NC_000022.10:g.43004270_43004271del

Select item 14912005885.

rs1491200588 has merged into rs150085059 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:42583690 (GRCh38)
22:42979696 (GRCh37)
Canonical SPDI:: NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42583681:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POLDIP3 (Varview), RRP7BP (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.42583690_42583707del, NC_000022.11:g.42583692_42583707del, NC_000022.11:g.42583695_42583707del, NC_000022.11:g.42583696_42583707del, NC_000022.11:g.42583697_42583707del, NC_000022.11:g.42583698_42583707del, NC_000022.11:g.42583699_42583707del, NC_000022.11:g.42583700_42583707del, NC_000022.11:g.42583701_42583707del, NC_000022.11:g.42583702_42583707del, NC_000022.11:g.42583703_42583707del, NC_000022.11:g.42583704_42583707del, NC_000022.11:g.42583705_42583707del, NC_000022.11:g.42583706_42583707del, NC_000022.11:g.42583707del, NC_000022.11:g.42583707dup, NC_000022.11:g.42583706_42583707dup, NC_000022.11:g.42583705_42583707dup, NC_000022.11:g.42583704_42583707dup, NC_000022.11:g.42583700_42583707dup, NC_000022.11:g.42583699_42583707dup, NC_000022.11:g.42583696_42583707dup, NC_000022.11:g.42583707_42583708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.42979696_42979713del, NC_000022.10:g.42979698_42979713del, NC_000022.10:g.42979701_42979713del, NC_000022.10:g.42979702_42979713del, NC_000022.10:g.42979703_42979713del, NC_000022.10:g.42979704_42979713del, NC_000022.10:g.42979705_42979713del, NC_000022.10:g.42979706_42979713del, NC_000022.10:g.42979707_42979713del, NC_000022.10:g.42979708_42979713del, NC_000022.10:g.42979709_42979713del, NC_000022.10:g.42979710_42979713del, NC_000022.10:g.42979711_42979713del, NC_000022.10:g.42979712_42979713del, NC_000022.10:g.42979713del, NC_000022.10:g.42979713dup, NC_000022.10:g.42979712_42979713dup, NC_000022.10:g.42979711_42979713dup, NC_000022.10:g.42979710_42979713dup, NC_000022.10:g.42979706_42979713dup, NC_000022.10:g.42979705_42979713dup, NC_000022.10:g.42979702_42979713dup, NC_000022.10:g.42979713_42979714insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911485476.

rs1491148547 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:42588456 (GRCh38)
22:42984462 (GRCh37)
Canonical SPDI:: NC_000022.11:42588455:CA:
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00093/11 (ALFA)
-=0.00202/57 (TOMMO)
HGVS:: NC_000022.11:g.42588456_42588457del, NC_000022.10:g.42984462_42984463del

Select item 14911097367.

rs1491109736 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:42583681 (GRCh38)
22:42979687 (GRCh37)
Canonical SPDI:: NC_000022.11:42583680:CA:
Gene:: POLDIP3 (Varview), RRP7BP (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.42583681_42583682del, NC_000022.10:g.42979687_42979688del

Select item 14910916978.

rs1491091697 has merged into rs137093 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:42588465 (GRCh38)
22:42984471 (GRCh37)
Canonical SPDI:: NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42588456:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAA=0.4525/2266 (1000Genomes)
HGVS:: NC_000022.11:g.42588465_42588474del, NC_000022.11:g.42588468_42588474del, NC_000022.11:g.42588470_42588474del, NC_000022.11:g.42588471_42588474del, NC_000022.11:g.42588472_42588474del, NC_000022.11:g.42588473_42588474del, NC_000022.11:g.42588474del, NC_000022.11:g.42588474dup, NC_000022.11:g.42588473_42588474dup, NC_000022.11:g.42588472_42588474dup, NC_000022.11:g.42588471_42588474dup, NC_000022.11:g.42588470_42588474dup, NC_000022.11:g.42588468_42588474dup, NC_000022.11:g.42588466_42588474dup, NC_000022.10:g.42984471_42984480del, NC_000022.10:g.42984474_42984480del, NC_000022.10:g.42984476_42984480del, NC_000022.10:g.42984477_42984480del, NC_000022.10:g.42984478_42984480del, NC_000022.10:g.42984479_42984480del, NC_000022.10:g.42984480del, NC_000022.10:g.42984480dup, NC_000022.10:g.42984479_42984480dup, NC_000022.10:g.42984478_42984480dup, NC_000022.10:g.42984477_42984480dup, NC_000022.10:g.42984476_42984480dup, NC_000022.10:g.42984474_42984480dup, NC_000022.10:g.42984472_42984480dup

Select item 14909781819.

rs1490978181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:42608708 (GRCh38)
22:43004714 (GRCh37)
Canonical SPDI:: NC_000022.11:42608707:G:C
Gene:: POLDIP3 (Varview), LOC124905127 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.42608708G>C, NC_000022.10:g.43004714G>C

Select item 149078490610.

rs1490784906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:42583422 (GRCh38)
22:42979428 (GRCh37)
Canonical SPDI:: NC_000022.11:42583421:G:A,NC_000022.11:42583421:G:T
Gene:: POLDIP3 (Varview), RRP7BP (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.42583422G>A, NC_000022.11:g.42583422G>T, NC_000022.10:g.42979428G>A, NC_000022.10:g.42979428G>T

Select item 149062325911.

rs1490623259 has merged into rs1452863889 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 22:42594263 (GRCh38)
22:42990269 (GRCh37)
Canonical SPDI:: NC_000022.11:42594262:AAAAAAAA:AAAAAAA,NC_000022.11:42594262:AAAAAAAA:AAAAAAAAA
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000022.11:g.42594270del, NC_000022.11:g.42594270dup, NC_000022.10:g.42990276del, NC_000022.10:g.42990276dup

Select item 149049728212.

rs1490497282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42603359 (GRCh38)
22:42999365 (GRCh37)
Canonical SPDI:: NC_000022.11:42603358:T:C
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.42603359T>C, NC_000022.10:g.42999365T>C

Select item 149046754813.

rs1490467548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42609490 (GRCh38)
22:43005496 (GRCh37)
Canonical SPDI:: NC_000022.11:42609489:T:C
Gene:: POLDIP3 (Varview), LOC124905127 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.42609490T>C, NC_000022.10:g.43005496T>C

Select item 149046633914.

rs1490466339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42604236 (GRCh38)
22:43000242 (GRCh37)
Canonical SPDI:: NC_000022.11:42604235:C:T
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.42604236C>T, NC_000022.10:g.43000242C>T

Select item 149035684515.

rs1490356845 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 22:42615289 (GRCh38)
22:43011295 (GRCh37)
Canonical SPDI:: NC_000022.11:42615288:CCC:CC
Gene:: POLDIP3 (Varview), RNU12 (Varview), LOC124905127 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42615291del, NC_000022.10:g.43011297del, NR_029422.2:n.48del, NR_029422.1:n.47del

Select item 149026164716.

rs1490261647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42598070 (GRCh38)
22:42994076 (GRCh37)
Canonical SPDI:: NC_000022.11:42598069:G:A
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000043/6 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000022.11:g.42598070G>A, NC_000022.10:g.42994076G>A

Select item 149021040117.

rs1490210401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:42608413 (GRCh38)
22:43004419 (GRCh37)
Canonical SPDI:: NC_000022.11:42608412:A:C
Gene:: POLDIP3 (Varview), LOC124905127 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42608413A>C, NC_000022.10:g.43004419A>C

Select item 149017038018.

rs1490170380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42602373 (GRCh38)
22:42998379 (GRCh37)
Canonical SPDI:: NC_000022.11:42602372:G:A
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.42602373G>A, NC_000022.10:g.42998379G>A, NG_076152.1:g.271G>A

Select item 149010947419.

rs1490109474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42611602 (GRCh38)
22:43007608 (GRCh37)
Canonical SPDI:: NC_000022.11:42611601:T:C
Gene:: POLDIP3 (Varview), LOC124905127 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.42611602T>C, NC_000022.10:g.43007608T>C

Select item 148997945620.

rs1489979456 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 22:42590696 (GRCh38)
22:42986702 (GRCh37)
Canonical SPDI:: NC_000022.11:42590695:A:
Gene:: POLDIP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.42590696del, NC_000022.10:g.42986702del

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