SNP Links for Gene (Select 5501) - SNP

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Select item 14915471491.

rs1491547149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:110741772 (GRCh38)
12:111179578 (GRCh37)
Canonical SPDI:: NC_000012.12:110741772:A:AA
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000064/17 (TOPMED)
A=0.000086/12 (GnomAD)
HGVS:: NC_000012.12:g.110741773dup, NC_000012.11:g.111179578dup, NG_030325.1:g.6206dup

Select item 14915345492.

rs1491534549 [Homo sapiens]

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

Select item 14911273373.

rs1491127337 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:110716375 (GRCh38)
12:111154180 (GRCh37)
Canonical SPDI:: NC_000012.12:110716373:ATA:A
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.110716375_110716376del, NC_000012.11:g.111154180_111154181del

Select item 14911257914.

rs1491125791 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:110741772 (GRCh38)
12:111179577 (GRCh37)
Canonical SPDI:: NC_000012.12:110741771:CA:
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.110741772_110741773del, NC_000012.11:g.111179577_111179578del, NG_030325.1:g.6206_6207del

Select item 14909092375.

rs1490909237 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14908740446.

rs1490874044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:110723332 (GRCh38)
12:111161137 (GRCh37)
Canonical SPDI:: NC_000012.12:110723331:G:T
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110723332G>T, NC_000012.11:g.111161137G>T, NG_030325.1:g.24647C>A

Select item 14908632167.

rs1490863216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110741879 (GRCh38)
12:111179684 (GRCh37)
Canonical SPDI:: NC_000012.12:110741878:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.110741879C>T, NC_000012.11:g.111179684C>T, NG_030325.1:g.6100G>A

Select item 14906710618.

rs1490671061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:110734214 (GRCh38)
12:111172019 (GRCh37)
Canonical SPDI:: NC_000012.12:110734213:T:A,NC_000012.12:110734213:T:C
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110734214T>A, NC_000012.12:g.110734214T>C, NC_000012.11:g.111172019T>A, NC_000012.11:g.111172019T>C, NG_030325.1:g.13765A>T, NG_030325.1:g.13765A>G

Select item 14906708909.

rs1490670890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110740853 (GRCh38)
12:111178658 (GRCh37)
Canonical SPDI:: NC_000012.12:110740852:T:C
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.110740853T>C, NC_000012.11:g.111178658T>C, NG_030325.1:g.7126A>G

Select item 149065473510.

rs1490654735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:110708750 (GRCh38)
12:111146555 (GRCh37)
Canonical SPDI:: NC_000012.12:110708749:G:C
Gene:: PPP1CC (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000012.12:g.110708750G>C, NC_000012.11:g.111146555G>C, XM_011538504.4:c.*285C>G, XM_011538504.3:c.*285C>G, XM_011538504.2:c.*285C>G, XM_011538505.4:c.*235C>G, XM_011538505.3:c.*235C>G, XM_011538505.2:c.*235C>G, XR_007063094.1:n.1671C>G

Select item 149034359211.

rs1490343592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:110711812 (GRCh38)
12:111149617 (GRCh37)
Canonical SPDI:: NC_000012.12:110711811:C:A
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.110711812C>A, NC_000012.11:g.111149617C>A

Select item 149027378912.

rs1490273789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110726670 (GRCh38)
12:111164475 (GRCh37)
Canonical SPDI:: NC_000012.12:110726669:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.110726670C>T, NC_000012.11:g.111164475C>T, NG_030325.1:g.21309G>A

Select item 149026992013.

rs1490269920 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:110726539 (GRCh38)
12:111164345 (GRCh37)
Canonical SPDI:: NC_000012.12:110726539::G
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110726539_110726540insG, NC_000012.11:g.111164344_111164345insG, NG_030325.1:g.21439_21440insC

Select item 149017113814.

rs1490171138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:110741935 (GRCh38)
12:111179740 (GRCh37)
Canonical SPDI:: NC_000012.12:110741934:G:C
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.110741935G>C, NC_000012.11:g.111179740G>C, NG_030325.1:g.6044C>G

Select item 149004836115.

rs1490048361 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:110732734 (GRCh38)
12:111170540 (GRCh37)
Canonical SPDI:: NC_000012.12:110732734:A:AA
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000012.12:g.110732735dup, NC_000012.11:g.111170540dup, NG_030325.1:g.15244dup

Select item 149003300916.

rs1490033009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110743911 (GRCh38)
12:111181716 (GRCh37)
Canonical SPDI:: NC_000012.12:110743910:A:G
Gene:: PPP1CC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110743911A>G, NC_000012.11:g.111181716A>G, NG_030325.1:g.4068T>C

Select item 148995892017.

rs1489958920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110717647 (GRCh38)
12:111155452 (GRCh37)
Canonical SPDI:: NC_000012.12:110717646:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.110717647C>T, NC_000012.11:g.111155452C>T

Select item 148989087518.

rs1489890875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110725564 (GRCh38)
12:111163369 (GRCh37)
Canonical SPDI:: NC_000012.12:110725563:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110725564C>T, NC_000012.11:g.111163369C>T, NG_030325.1:g.22415G>A

Select item 148980967519.

rs1489809675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110738798 (GRCh38)
12:111176603 (GRCh37)
Canonical SPDI:: NC_000012.12:110738797:G:A
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_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_000012.12:g.110738798G>A, NC_000012.11:g.111176603G>A, NG_030325.1:g.9181C>T

Select item 148976275820.

rs1489762758 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGGGTAATCGCCTAGC>- [Show Flanks]
Chromosome:: 12:110727447 (GRCh38)
12:111165252 (GRCh37)
Canonical SPDI:: NC_000012.12:110727442:TAGCCAGGGTAATCGCCTAGC:TAGC
Gene:: PPP1CC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGC=0.000066/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.110727447_110727463del, NC_000012.11:g.111165252_111165268del, NG_030325.1:g.20520_20536del

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