SNP Links for Gene (Select 5511) - SNP

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Select item 14914473911.

rs1491447391 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:27849371 (GRCh38)
1:28175882 (GRCh37)
Canonical SPDI:: NC_000001.11:27849370:CA:
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.27849371_27849372del, NC_000001.10:g.28175882_28175883del

Select item 14912816932.

rs1491281693 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:27830169 (GRCh38)
1:28156680 (GRCh37)
Canonical SPDI:: NC_000001.11:27830168:TG:
Gene:: PPP1R8 (Varview), LOC124903885 (Varview)
Functional Consequence:: intron_variant,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_000001.11:g.27830169_27830170del, NC_000001.10:g.28156680_28156681del

Select item 14910998623.

rs1491099862 has merged into rs544902286 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:27849381 (GRCh38)
1:28175892 (GRCh37)
Canonical SPDI:: NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27849371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000091/24 (TOPMED)
HGVS:: NC_000001.11:g.27849381_27849392del, NC_000001.11:g.27849384_27849392del, NC_000001.11:g.27849385_27849392del, NC_000001.11:g.27849386_27849392del, NC_000001.11:g.27849387_27849392del, NC_000001.11:g.27849389_27849392del, NC_000001.11:g.27849390_27849392del, NC_000001.11:g.27849391_27849392del, NC_000001.11:g.27849392del, NC_000001.11:g.27849392dup, NC_000001.11:g.27849391_27849392dup, NC_000001.11:g.27849390_27849392dup, NC_000001.10:g.28175892_28175903del, NC_000001.10:g.28175895_28175903del, NC_000001.10:g.28175896_28175903del, NC_000001.10:g.28175897_28175903del, NC_000001.10:g.28175898_28175903del, NC_000001.10:g.28175900_28175903del, NC_000001.10:g.28175901_28175903del, NC_000001.10:g.28175902_28175903del, NC_000001.10:g.28175903del, NC_000001.10:g.28175903dup, NC_000001.10:g.28175902_28175903dup, NC_000001.10:g.28175901_28175903dup

Select item 14909765904.

rs1490976590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27834489 (GRCh38)
1:28161000 (GRCh37)
Canonical SPDI:: NC_000001.11:27834488:A:G
Gene:: PPP1R8 (Varview), SCARNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27834489A>G, NC_000001.10:g.28161000A>G, NR_002997.1:n.89A>G

Select item 14909735655.

rs1490973565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:27848392 (GRCh38)
1:28174903 (GRCh37)
Canonical SPDI:: NC_000001.11:27848391:G:C,NC_000001.11:27848391:G:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.27848392G>C, NC_000001.11:g.27848392G>T, NC_000001.10:g.28174903G>C, NC_000001.10:g.28174903G>T

Select item 14907077156.

rs1490707715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27849361 (GRCh38)
1:28175872 (GRCh37)
Canonical SPDI:: NC_000001.11:27849360:A:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_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_000001.11:g.27849361A>G, NC_000001.10:g.28175872A>G

Select item 14904391607.

rs1490439160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:27838236 (GRCh38)
1:28164747 (GRCh37)
Canonical SPDI:: NC_000001.11:27838235:T:C,NC_000001.11:27838235:T:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.022245/65 (KOREAN)
HGVS:: NC_000001.11:g.27838236T>C, NC_000001.11:g.27838236T>G, NC_000001.10:g.28164747T>C, NC_000001.10:g.28164747T>G

Select item 14904037168.

rs1490403716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:27840824 (GRCh38)
1:28167335 (GRCh37)
Canonical SPDI:: NC_000001.11:27840823:A:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27840824A>T, NC_000001.10:g.28167335A>T

Select item 14901106409.

rs1490110640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:27844373 (GRCh38)
1:28170884 (GRCh37)
Canonical SPDI:: NC_000001.11:27844372:G:C
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_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_000001.11:g.27844373G>C, NC_000001.10:g.28170884G>C

Select item 148993749810.

rs1489937498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27842932 (GRCh38)
1:28169443 (GRCh37)
Canonical SPDI:: NC_000001.11:27842931:G:A
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_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_000001.11:g.27842932G>A, NC_000001.10:g.28169443G>A

Select item 148983570811.

rs1489835708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:27835027 (GRCh38)
1:28161538 (GRCh37)
Canonical SPDI:: NC_000001.11:27835026:A:T
Gene:: PPP1R8 (Varview), SCARNA1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27835027A>T, NC_000001.10:g.28161538A>T

Select item 148982845612.

rs1489828456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27848894 (GRCh38)
1:28175405 (GRCh37)
Canonical SPDI:: NC_000001.11:27848893:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.27848894C>T, NC_000001.10:g.28175405C>T

Select item 148977129413.

rs1489771294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27835791 (GRCh38)
1:28162302 (GRCh37)
Canonical SPDI:: NC_000001.11:27835790:A:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27835791A>G, NC_000001.10:g.28162302A>G

Select item 148956985914.

rs1489569859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27846550 (GRCh38)
1:28173061 (GRCh37)
Canonical SPDI:: NC_000001.11:27846549:A:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.27846550A>G, NC_000001.10:g.28173061A>G

Select item 148954916915.

rs1489549169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27833455 (GRCh38)
1:28159966 (GRCh37)
Canonical SPDI:: NC_000001.11:27833454:T:C
Gene:: PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27833455T>C, NC_000001.10:g.28159966T>C

Select item 148928125616.

rs1489281256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27850192 (GRCh38)
1:28176703 (GRCh37)
Canonical SPDI:: NC_000001.11:27850191:C:T
Gene:: PPP1R8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27850192C>T, NC_000001.10:g.28176703C>T, NM_014110.5:c.802C>T, NM_014110.4:c.802C>T, NM_002713.4:c.130C>T, NM_002713.3:c.130C>T, NM_138558.3:c.376C>T, NM_138558.2:c.376C>T, NP_054829.2:p.Pro268Ser, NP_002704.1:p.Pro44Ser, NP_612568.1:p.Pro126Ser

Select item 148926264017.

rs1489262640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27851892 (GRCh38)
1:28178403 (GRCh37)
Canonical SPDI:: NC_000001.11:27851891:A:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.27851892A>G, NC_000001.10:g.28178403A>G

Select item 148925357118.

rs1489253571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27837209 (GRCh38)
1:28163720 (GRCh37)
Canonical SPDI:: NC_000001.11:27837208:A:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.27837209A>G, NC_000001.10:g.28163720A>G

Select item 148910920719.

rs1489109207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27845144 (GRCh38)
1:28171655 (GRCh37)
Canonical SPDI:: NC_000001.11:27845143:A:G
Gene:: PPP1R8 (Varview)
Functional Consequence:: intron_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_000001.11:g.27845144A>G, NC_000001.10:g.28171655A>G

Select item 148902580120.

rs1489025801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27850969 (GRCh38)
1:28177480 (GRCh37)
Canonical SPDI:: NC_000001.11:27850968:T:C
Gene:: PPP1R8 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.27850969T>C, NC_000001.10:g.28177480T>C, NM_014110.5:c.*523T>C, NM_014110.4:c.*523T>C, NM_002713.4:c.*523T>C, NM_002713.3:c.*523T>C, NM_138558.3:c.*523T>C, NM_138558.2:c.*523T>C

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