SNP Links for Gene (Select 442421) - SNP

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Select item 14915017821.

rs1491501782 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,GTT [Show Flanks]
Chromosome:: 9:62840374 (GRCh38)
9:66496199 (GRCh37)
Canonical SPDI:: NC_000009.12:62840374:TT:TTCTT,NC_000009.12:62840374:TT:TTGTT
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTGTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.62840376_62840377insCTT, NC_000009.12:g.62840376_62840377insGTT, NC_000009.11:g.66496200_66496201insCTT, NC_000009.11:g.66496200_66496201insGTT

Select item 14913147212.

rs1491314721 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:62846448 (GRCh38)
9:66502272 (GRCh37)
Canonical SPDI:: NC_000009.12:62846447:GA:
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.15175/1800 (ALFA)
-=0.25851/7305 (TOMMO)
HGVS:: NC_000009.12:g.62846448_62846449del, NC_000009.11:g.66502272_66502273del, NR_024496.1:n.2947_2948del, NR_135010.1:n.2366_2367del

Select item 14911635033.

rs1491163503 has merged into rs5897916 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 9:62846458 (GRCh38)
9:66502282 (GRCh37)
Canonical SPDI:: NC_000009.12:62846448:AAAAAAAAAAA:AAAAAAAAA,NC_000009.12:62846448:AAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:62846448:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.62846458_62846459del, NC_000009.12:g.62846459del, NC_000009.12:g.62846459dup, NC_000009.11:g.66502282_66502283del, NC_000009.11:g.66502283del, NC_000009.11:g.66502283dup, NR_024496.1:n.2957_2958del, NR_024496.1:n.2958del, NR_024496.1:n.2958dup, NR_135010.1:n.2376_2377del, NR_135010.1:n.2377del, NR_135010.1:n.2377dup

Select item 14910555894.

rs1491055589 has merged into rs5897916 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 9:62846458 (GRCh38)
9:66502282 (GRCh37)
Canonical SPDI:: NC_000009.12:62846448:AAAAAAAAAAA:AAAAAAAAA,NC_000009.12:62846448:AAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:62846448:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.62846458_62846459del, NC_000009.12:g.62846459del, NC_000009.12:g.62846459dup, NC_000009.11:g.66502282_66502283del, NC_000009.11:g.66502283del, NC_000009.11:g.66502283dup, NR_024496.1:n.2957_2958del, NR_024496.1:n.2958del, NR_024496.1:n.2958dup, NR_135010.1:n.2376_2377del, NR_135010.1:n.2377del, NR_135010.1:n.2377dup

Select item 14907415305.

rs1490741530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:62847213 (GRCh38)
9:66503037 (GRCh37)
Canonical SPDI:: NC_000009.12:62847212:C:T
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000264/37 (GnomAD)
T=0.007183/46 (1000Genomes)
T=0.043668/80 (Korea1K)
T=0.044521/130 (KOREAN)
T=0.049083/823 (TOMMO)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000009.12:g.62847213C>T, NC_000009.11:g.66503037C>T

Select item 14907365786.

rs1490736578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:62843721 (GRCh38)
9:66499545 (GRCh37)
Canonical SPDI:: NC_000009.12:62843720:A:T
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.62843721A>T, NC_000009.11:g.66499545A>T, NG_046646.1:g.33A>T

Select item 14905728207.

rs1490572820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:62843896 (GRCh38)
9:66499720 (GRCh37)
Canonical SPDI:: NC_000009.12:62843895:T:C
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000009.12:g.62843896T>C, NC_000009.11:g.66499720T>C, NG_046646.1:g.208T>C, NR_024496.1:n.395T>C, NR_135010.1:n.250T>C

Select item 14903799248.

rs1490379924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:62840395 (GRCh38)
9:66496219 (GRCh37)
Canonical SPDI:: NC_000009.12:62840394:C:T
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000164/2 (ALFA)
T=0.0002/28 (GnomAD)
HGVS:: NC_000009.12:g.62840395C>T, NC_000009.11:g.66496219C>T

Select item 14900864659.

rs1490086465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:62838160 (GRCh38)
9:66493984 (GRCh37)
Canonical SPDI:: NC_000009.12:62838159:C:A
Gene:: PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00843/100 (ALFA)
A=0.03825/1081 (TOMMO)
A=0.14897/435 (KOREAN)
HGVS:: NC_000009.12:g.62838160C>A, NC_000009.11:g.66493984C>A, NG_078826.1:g.156C>A, NR_135128.1:n.187G>T

Select item 148950884410.

rs1489508844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:62838315 (GRCh38)
9:66494140 (GRCh37)
Canonical SPDI:: NC_000009.12:62838315:G:GG
Gene:: PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000207/29 (GnomAD)
HGVS:: NC_000009.12:g.62838316dup, NC_000009.11:g.66494140dup, NG_078826.1:g.312dup, NR_135128.1:n.31dup

Select item 148942204411.

rs1489422044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:62844642 (GRCh38)
9:66500466 (GRCh37)
Canonical SPDI:: NC_000009.12:62844641:T:C
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000759/9 (ALFA)
C=0.000458/64 (GnomAD)
HGVS:: NC_000009.12:g.62844642T>C, NC_000009.11:g.66500466T>C, NG_046643.2:g.5T>C, NR_024496.1:n.1141T>C, NR_135010.1:n.560T>C

Select item 148938681712.

rs1489386817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:62846584 (GRCh38)
9:66502408 (GRCh37)
Canonical SPDI:: NC_000009.12:62846583:A:G
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000064/9 (GnomAD)
HGVS:: NC_000009.12:g.62846584A>G, NC_000009.11:g.66502408A>G, NR_024496.1:n.3083A>G, NR_135010.1:n.2502A>G

Select item 148928171213.

rs1489281712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:62843060 (GRCh38)
9:66498884 (GRCh37)
Canonical SPDI:: NC_000009.12:62843059:G:A
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.62843060G>A, NC_000009.11:g.66498884G>A

Select item 148914137514.

rs1489141375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:62844082 (GRCh38)
9:66499906 (GRCh37)
Canonical SPDI:: NC_000009.12:62844081:G:A
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.62844082G>A, NC_000009.11:g.66499906G>A, NG_046646.1:g.394G>A, NR_024496.1:n.581G>A, NR_135010.1:n.436G>A

Select item 148910772315.

rs1489107723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:62845460 (GRCh38)
9:66501284 (GRCh37)
Canonical SPDI:: NC_000009.12:62845459:G:A
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.62845460G>A, NC_000009.11:g.66501284G>A, NG_046643.2:g.823G>A, NR_024496.1:n.1959G>A, NR_135010.1:n.1378G>A

Select item 148905641116.

rs1489056411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:62846207 (GRCh38)
9:66502031 (GRCh37)
Canonical SPDI:: NC_000009.12:62846206:A:G
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00007/1 (TOMMO)
G=0.00109/2 (Korea1K)
G=0.00137/4 (KOREAN)
HGVS:: NC_000009.12:g.62846207A>G, NC_000009.11:g.66502031A>G, NR_024496.1:n.2706A>G, NR_135010.1:n.2125A>G

Select item 148901387717.

rs1489013877 [Homo sapiens]

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

Select item 148894165318.

rs1488941653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:62836719 (GRCh38)
9:66492543 (GRCh37)
Canonical SPDI:: NC_000009.12:62836718:T:A
Gene:: PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.62836719T>A, NC_000009.11:g.66492543T>A, NR_135128.1:n.1628A>T

Select item 148891742719.

rs1488917427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:62844280 (GRCh38)
9:66500104 (GRCh37)
Canonical SPDI:: NC_000009.12:62844279:C:G,NC_000009.12:62844279:C:T
Gene:: PTGER4P2-CDK2AP2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000372/52 (GnomAD)
HGVS:: NC_000009.12:g.62844280C>G, NC_000009.12:g.62844280C>T, NC_000009.11:g.66500104C>G, NC_000009.11:g.66500104C>T, NR_024496.1:n.779C>G, NR_024496.1:n.779C>T

Select item 148889277520.

rs1488892775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:62837502 (GRCh38)
9:66493326 (GRCh37)
Canonical SPDI:: NC_000009.12:62837501:C:G
Gene:: PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.62837502C>G, NC_000009.11:g.66493326C>G, NR_135128.1:n.845G>C

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