SNP Links for Gene (Select 79660) - SNP

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Select item 14904730021.

rs1490473002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9152376 (GRCh38)
8:9009886 (GRCh37)
Canonical SPDI:: NC_000008.11:9152375:G:A
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9152376G>A, NC_000008.10:g.9009886G>A, NG_028089.1:g.4267C>T, NW_018654717.1:g.4199253C>T

Select item 14901413902.

rs1490141390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:9141156 (GRCh38)
8:8998666 (GRCh37)
Canonical SPDI:: NC_000008.11:9141155:A:C,NC_000008.11:9141155:A:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9141156A>C, NC_000008.11:g.9141156A>T, NC_000008.10:g.8998666A>C, NC_000008.10:g.8998666A>T, NG_028089.1:g.15487T>G, NG_028089.1:g.15487T>A, NM_024607.4:c.496T>G, NM_024607.4:c.496T>A, NM_024607.3:c.496T>G, NM_024607.3:c.496T>A, NM_001201329.2:c.496T>G, NM_001201329.2:c.496T>A, NM_001201329.1:c.496T>G, NM_001201329.1:c.496T>A, NW_018654717.1:g.4210474T>G, NW_018654717.1:g.4210474T>A, XM_006716253.4:c.496T>G, XM_006716253.4:c.496T>A, XM_006716253.3:c.496T>G, XM_006716253.3:c.496T>A, XM_006716253.2:c.496T>G, XM_006716253.2:c.496T>A, XM_006716253.1:c.496T>G, XM_006716253.1:c.496T>A, XM_047422235.1:c.496T>G, XM_047422235.1:c.496T>A, NP_078883.2:p.Phe166Val, NP_078883.2:p.Phe166Ile, NP_001188258.1:p.Phe166Val, NP_001188258.1:p.Phe166Ile, XP_006716316.1:p.Phe166Val, XP_006716316.1:p.Phe166Ile, XP_047278191.1:p.Phe166Val, XP_047278191.1:p.Phe166Ile

Select item 14900537693.

rs1490053769 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:9149075 (GRCh38)
8:9006585 (GRCh37)
Canonical SPDI:: NC_000008.11:9149074:CCC:CC
Gene:: PPP1R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.9149077del, NC_000008.10:g.9006587del, NG_028089.1:g.7568del, NW_018654717.1:g.4202554del

Select item 14900293674.

rs1490029367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:9141881 (GRCh38)
8:8999391 (GRCh37)
Canonical SPDI:: NC_000008.11:9141880:G:A,NC_000008.11:9141880:G:C,NC_000008.11:9141880:G:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.9141881G>A, NC_000008.11:g.9141881G>C, NC_000008.11:g.9141881G>T, NC_000008.10:g.8999391G>A, NC_000008.10:g.8999391G>C, NC_000008.10:g.8999391G>T, NG_028089.1:g.14762C>T, NG_028089.1:g.14762C>G, NG_028089.1:g.14762C>A, NW_018654717.1:g.4209749C>T, NW_018654717.1:g.4209749C>G, NW_018654717.1:g.4209749C>A

Select item 14899865005.

rs1489986500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:9152738 (GRCh38)
8:9010248 (GRCh37)
Canonical SPDI:: NC_000008.11:9152737:A:C,NC_000008.11:9152737:A:G
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9152738A>C, NC_000008.11:g.9152738A>G, NC_000008.10:g.9010248A>C, NC_000008.10:g.9010248A>G, NG_028089.1:g.3905T>G, NG_028089.1:g.3905T>C, NW_018654717.1:g.4198891T>G, NW_018654717.1:g.4198891T>C

Select item 14899408756.

rs1489940875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:9146870 (GRCh38)
8:9004380 (GRCh37)
Canonical SPDI:: NC_000008.11:9146869:C:G,NC_000008.11:9146869:C:T
Gene:: PPP1R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.9146870C>G, NC_000008.11:g.9146870C>T, NC_000008.10:g.9004380C>G, NC_000008.10:g.9004380C>T, NG_028089.1:g.9773G>C, NG_028089.1:g.9773G>A, NW_018654717.1:g.4204759G>C, NW_018654717.1:g.4204759G>A

Select item 14897655977.

rs1489765597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:9152818 (GRCh38)
8:9010328 (GRCh37)
Canonical SPDI:: NC_000008.11:9152817:G:A,NC_000008.11:9152817:G:C,NC_000008.11:9152817:G:T
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.9152818G>A, NC_000008.11:g.9152818G>C, NC_000008.11:g.9152818G>T, NC_000008.10:g.9010328G>A, NC_000008.10:g.9010328G>C, NC_000008.10:g.9010328G>T, NG_028089.1:g.3825C>T, NG_028089.1:g.3825C>G, NG_028089.1:g.3825C>A, NW_018654717.1:g.4198811C>T, NW_018654717.1:g.4198811C>G, NW_018654717.1:g.4198811C>A

Select item 14896272688.

rs1489627268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9148432 (GRCh38)
8:9005942 (GRCh37)
Canonical SPDI:: NC_000008.11:9148431:G:A
Gene:: PPP1R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.9148432G>A, NC_000008.10:g.9005942G>A, NG_028089.1:g.8211C>T, NW_018654717.1:g.4203197C>T

Select item 14894467079.

rs1489446707 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:9140296 (GRCh38)
8:8997806 (GRCh37)
Canonical SPDI:: NC_000008.11:9140291:GTGTGT:GTGT
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0.000142/2 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.9140292GT[2], NC_000008.10:g.8997802GT[2], NG_028089.1:g.16346AC[2], NM_024607.4:c.*497AC[2], NM_024607.3:c.*497AC[2], NM_001201329.2:c.*497AC[2], NM_001201329.1:c.*497AC[2], NW_018654717.1:g.4211333AC[2], XM_006716253.4:c.*497AC[2], XM_006716253.3:c.*497AC[2], XM_006716253.2:c.*497AC[2], XM_006716253.1:c.*497AC[2], XM_047422235.1:c.*497AC[2]

Select item 148934019210.

rs1489340192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9152526 (GRCh38)
8:9010036 (GRCh37)
Canonical SPDI:: NC_000008.11:9152525:G:A
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.9152526G>A, NC_000008.10:g.9010036G>A, NG_028089.1:g.4117C>T, NW_018654717.1:g.4199103C>T

Select item 148904334711.

rs1489043347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:9150224 (GRCh38)
8:9007734 (GRCh37)
Canonical SPDI:: NC_000008.11:9150223:C:T
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.9150224C>T, NC_000008.10:g.9007734C>T, NG_028089.1:g.6419G>A, NW_018654717.1:g.4201405G>A

Select item 148890641912.

rs1488906419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:9153320 (GRCh38)
8:9010830 (GRCh37)
Canonical SPDI:: NC_000008.11:9153319:G:C,NC_000008.11:9153319:G:T
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00047/3 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.9153320G>C, NC_000008.11:g.9153320G>T, NC_000008.10:g.9010830G>C, NC_000008.10:g.9010830G>T, NG_028089.1:g.3323C>G, NG_028089.1:g.3323C>A, NW_018654717.1:g.4198309C>G, NW_018654717.1:g.4198309C>A

Select item 148853560213.

rs1488535602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:9152290 (GRCh38)
8:9009800 (GRCh37)
Canonical SPDI:: NC_000008.11:9152289:T:C
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.9152290T>C, NC_000008.10:g.9009800T>C, NG_028089.1:g.4353A>G, NW_018654717.1:g.4199339A>G

Select item 148840941214.

rs1488409412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:9145973 (GRCh38)
8:9003483 (GRCh37)
Canonical SPDI:: NC_000008.11:9145972:A:T
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.9145973A>T, NC_000008.10:g.9003483A>T, NG_028089.1:g.10670T>A, NW_018654717.1:g.4205656T>A

Select item 148830976515.

rs1488309765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:9148375 (GRCh38)
8:9005885 (GRCh37)
Canonical SPDI:: NC_000008.11:9148374:A:G
Gene:: PPP1R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.9148375A>G, NC_000008.10:g.9005885A>G, NG_028089.1:g.8268T>C, NW_018654717.1:g.4203254T>C

Select item 148813547016.

rs1488135470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:9139759 (GRCh38)
8:8997269 (GRCh37)
Canonical SPDI:: NC_000008.11:9139758:C:A,NC_000008.11:9139758:C:G
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.9139759C>A, NC_000008.11:g.9139759C>G, NC_000008.10:g.8997269C>A, NC_000008.10:g.8997269C>G, NG_028089.1:g.16884G>T, NG_028089.1:g.16884G>C, NM_024607.4:c.*1035G>T, NM_024607.4:c.*1035G>C, NM_024607.3:c.*1035G>T, NM_024607.3:c.*1035G>C, NM_001201329.2:c.*1035G>T, NM_001201329.2:c.*1035G>C, NM_001201329.1:c.*1035G>T, NM_001201329.1:c.*1035G>C, NW_018654717.1:g.4211871G>T, NW_018654717.1:g.4211871G>C, XM_006716253.4:c.*1035G>T, XM_006716253.4:c.*1035G>C, XM_006716253.3:c.*1035G>T, XM_006716253.3:c.*1035G>C, XM_006716253.2:c.*1035G>T, XM_006716253.2:c.*1035G>C, XM_006716253.1:c.*1035G>T, XM_006716253.1:c.*1035G>C, XM_047422235.1:c.*1035G>T, XM_047422235.1:c.*1035G>C

Select item 148803967817.

rs1488039678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:9150718 (GRCh38)
8:9008228 (GRCh37)
Canonical SPDI:: NC_000008.11:9150717:A:G
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9150718A>G, NC_000008.10:g.9008228A>G, NG_028089.1:g.5925T>C, NW_018654717.1:g.4200911T>C

Select item 148800234318.

rs1488002343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9140409 (GRCh38)
8:8997919 (GRCh37)
Canonical SPDI:: NC_000008.11:9140408:G:A
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.9140409G>A, NC_000008.10:g.8997919G>A, NG_028089.1:g.16234C>T, NM_024607.4:c.*385C>T, NM_024607.3:c.*385C>T, NM_001201329.2:c.*385C>T, NM_001201329.1:c.*385C>T, NW_018654717.1:g.4211221C>T, XM_006716253.4:c.*385C>T, XM_006716253.3:c.*385C>T, XM_006716253.2:c.*385C>T, XM_006716253.1:c.*385C>T, XM_047422235.1:c.*385C>T

Select item 148794112219.

rs1487941122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:9137944 (GRCh38)
8:8995454 (GRCh37)
Canonical SPDI:: NC_000008.11:9137943:C:T
Gene:: PPP1R3B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.9137944C>T, NC_000008.10:g.8995454C>T, NG_028089.1:g.18699G>A, NM_024607.4:c.*2850G>A, NM_024607.3:c.*2850G>A, NM_001201329.2:c.*2850G>A, NM_001201329.1:c.*2850G>A, NW_018654717.1:g.4213686G>A, XM_006716253.4:c.*2850G>A, XM_006716253.3:c.*2850G>A, XM_006716253.2:c.*2850G>A, XM_006716253.1:c.*2850G>A, XM_047422235.1:c.*2850G>A

Select item 148787721420.

rs1487877214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:9142614 (GRCh38)
8:9000124 (GRCh37)
Canonical SPDI:: NC_000008.11:9142613:T:C
Gene:: PPP1R3B (Varview), LOC124901882 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9142614T>C, NC_000008.10:g.9000124T>C, NG_028089.1:g.14029A>G, NW_018654717.1:g.4209016A>G

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