SNP Links for Gene (Select 153743) - SNP

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Select item 14896379791.

rs1489637979 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAACA [Show Flanks]
Chromosome:: 5:156848947 (GRCh38)
5:156275959 (GRCh37)
Canonical SPDI:: NC_000005.10:156848947:AAAACAAAACAAAACA:AAAACAAAACAAAACAAAACA
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAACAAAACAAAACA=0.000084/1 (ALFA)
AAAAC=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.156848949AAACA[4], NC_000005.9:g.156275960AAACA[4]

Select item 14890098272.

rs1489009827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:156849920 (GRCh38)
5:156276931 (GRCh37)
Canonical SPDI:: NC_000005.10:156849919:G:A
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.156849920G>A, NC_000005.9:g.156276931G>A

Select item 14869823903.

rs1486982390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:156850573 (GRCh38)
5:156277584 (GRCh37)
Canonical SPDI:: NC_000005.10:156850572:C:G,NC_000005.10:156850572:C:T
Gene:: PPP1R2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.156850573C>G, NC_000005.10:g.156850573C>T, NC_000005.9:g.156277584C>G, NC_000005.9:g.156277584C>T, NM_206858.3:c.11C>G, NM_206858.3:c.11C>T, NM_206858.2:c.11C>G, NM_206858.2:c.11C>T, NM_206858.1:c.11C>G, NM_206858.1:c.11C>T, NR_038443.1:n.36C>G, NR_038443.1:n.36C>T, NR_002168.1:n.36C>G, NR_002168.1:n.36C>T, NP_996740.2:p.Ser4Trp, NP_996740.2:p.Ser4Leu

Select item 14857517554.

rs1485751755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:156851758 (GRCh38)
5:156278769 (GRCh37)
Canonical SPDI:: NC_000005.10:156851757:A:G
Gene:: PPP1R2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.156851758A>G, NC_000005.9:g.156278769A>G, NM_206858.3:c.*578A>G, NM_206858.2:c.*578A>G, NM_206858.1:c.*578A>G, NR_038443.1:n.1221A>G, NR_002168.1:n.1221A>G

Select item 14856817005.

rs1485681700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:156849699 (GRCh38)
5:156276710 (GRCh37)
Canonical SPDI:: NC_000005.10:156849698:C:A
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.156849699C>A, NC_000005.9:g.156276710C>A

Select item 14854982526.

rs1485498252 has merged into rs1279305838 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG,GGGG [Show Flanks]
Chromosome:: 5:156850097 (GRCh38)
5:156277108 (GRCh37)
Canonical SPDI:: NC_000005.10:156850093:GGGGGG:GGG,NC_000005.10:156850093:GGGGGG:GGGGG,NC_000005.10:156850093:GGGGGG:GGGGGGG
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.156850097_156850099del, NC_000005.10:g.156850099del, NC_000005.10:g.156850099dup, NC_000005.9:g.156277108_156277110del, NC_000005.9:g.156277110del, NC_000005.9:g.156277110dup

Select item 14854641887.

rs1485464188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:156852597 (GRCh38)
5:156279608 (GRCh37)
Canonical SPDI:: NC_000005.10:156852596:T:G
Gene:: PPP1R2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000005.10:g.156852597T>G, NC_000005.9:g.156279608T>G

Select item 14853945598.

rs1485394559 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:156849156 (GRCh38)
5:156276167 (GRCh37)
Canonical SPDI:: NC_000005.10:156849155:G:
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.156849156del, NC_000005.9:g.156276167del

Select item 14853504479.

rs1485350447 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATAAATA [Show Flanks]
Chromosome:: 5:156848624 (GRCh38)
5:156275636 (GRCh37)
Canonical SPDI:: NC_000005.10:156848624:ATAAATA:ATAAATAGATAAATA
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAATAGATAAATA=0.000084/1 (ALFA)
ATAAATAG=0.000017/2 (GnomAD)
HGVS:: NC_000005.10:g.156848631_156848632insGATAAATA, NC_000005.9:g.156275642_156275643insGATAAATA

Select item 148521377510.

rs1485213775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:156849056 (GRCh38)
5:156276067 (GRCh37)
Canonical SPDI:: NC_000005.10:156849055:A:C
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.156849056A>C, NC_000005.9:g.156276067A>C

Select item 148493711811.

rs1484937118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:156850088 (GRCh38)
5:156277099 (GRCh37)
Canonical SPDI:: NC_000005.10:156850087:T:C
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.156850088T>C, NC_000005.9:g.156277099T>C

Select item 148441343812.

rs1484413438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:156848670 (GRCh38)
5:156275681 (GRCh37)
Canonical SPDI:: NC_000005.10:156848669:A:G
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.156848670A>G, NC_000005.9:g.156275681A>G

Select item 148397262913.

rs1483972629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:156850676 (GRCh38)
5:156277687 (GRCh37)
Canonical SPDI:: NC_000005.10:156850675:G:C,NC_000005.10:156850675:G:T
Gene:: PPP1R2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.156850676G>C, NC_000005.10:g.156850676G>T, NC_000005.9:g.156277687G>C, NC_000005.9:g.156277687G>T, NM_206858.3:c.114G>C, NM_206858.3:c.114G>T, NM_206858.2:c.114G>C, NM_206858.2:c.114G>T, NM_206858.1:c.114G>C, NM_206858.1:c.114G>T, NR_038443.1:n.139G>C, NR_038443.1:n.139G>T, NR_002168.1:n.139G>C, NR_002168.1:n.139G>T, NP_996740.2:p.Glu38Asp, NP_996740.2:p.Glu38Asp

Select item 148350199814.

rs1483501998 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:156851776 (GRCh38)
5:156278787 (GRCh37)
Canonical SPDI:: NC_000005.10:156851775:T:
Gene:: PPP1R2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.156851776del, NC_000005.9:g.156278787del, NM_206858.3:c.*596del, NM_206858.2:c.*596del, NM_206858.1:c.*596del, NR_038443.1:n.1239del, NR_002168.1:n.1239del

Select item 148345385815.

rs1483453858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:156850700 (GRCh38)
5:156277711 (GRCh37)
Canonical SPDI:: NC_000005.10:156850699:G:A
Gene:: PPP1R2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.156850700G>A, NC_000005.9:g.156277711G>A, NM_206858.3:c.138G>A, NM_206858.2:c.138G>A, NM_206858.1:c.138G>A, NR_038443.1:n.163G>A, NR_002168.1:n.163G>A

Select item 148310404116.

rs1483104041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:156852837 (GRCh38)
5:156279848 (GRCh37)
Canonical SPDI:: NC_000005.10:156852836:G:A
Gene:: PPP1R2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.156852837G>A, NC_000005.9:g.156279848G>A

Select item 148296531517.

rs1482965315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:156851042 (GRCh38)
5:156278053 (GRCh37)
Canonical SPDI:: NC_000005.10:156851041:A:C
Gene:: PPP1R2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.156851042A>C, NC_000005.9:g.156278053A>C, NM_206858.3:c.480A>C, NM_206858.2:c.480A>C, NM_206858.1:c.480A>C, NR_038443.1:n.505A>C, NR_002168.1:n.505A>C, NP_996740.2:p.Leu160Phe

Select item 148250704618.

rs1482507046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:156848792 (GRCh38)
5:156275803 (GRCh37)
Canonical SPDI:: NC_000005.10:156848791:A:T
Gene:: PPP1R2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.156848792A>T, NC_000005.9:g.156275803A>T

Select item 148235002119.

rs1482350021 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 5:156852540 (GRCh38)
5:156279552 (GRCh37)
Canonical SPDI:: NC_000005.10:156852540:TTT:TTTTT
Gene:: PPP1R2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0.000142/2 (ALFA)
TT=0.000021/3 (GnomAD)
TT=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.156852542_156852543dup, NC_000005.9:g.156279553_156279554dup

Select item 148162060520.

rs1481620605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:156852480 (GRCh38)
5:156279491 (GRCh37)
Canonical SPDI:: NC_000005.10:156852479:A:G
Gene:: PPP1R2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.156852480A>G, NC_000005.9:g.156279491A>G, NM_206858.3:c.*1300A>G, NM_206858.2:c.*1300A>G, NM_206858.1:c.*1300A>G, NR_038443.1:n.1943A>G, NR_002168.1:n.1943A>G

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