SNP Links for Gene (Select 151242) - SNP

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Select item 14915778631.

rs1491577863 has merged into rs554848749 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:182074050 (GRCh38)
2:182938777 (GRCh37)
Canonical SPDI:: NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:182074041:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.323482/1620 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000002.12:g.182074050_182074059del, NC_000002.12:g.182074053_182074059del, NC_000002.12:g.182074054_182074059del, NC_000002.12:g.182074055_182074059del, NC_000002.12:g.182074056_182074059del, NC_000002.12:g.182074057_182074059del, NC_000002.12:g.182074058_182074059del, NC_000002.12:g.182074059del, NC_000002.12:g.182074059dup, NC_000002.12:g.182074058_182074059dup, NC_000002.12:g.182074057_182074059dup, NC_000002.12:g.182074052_182074059dup, NC_000002.11:g.182938777_182938786del, NC_000002.11:g.182938780_182938786del, NC_000002.11:g.182938781_182938786del, NC_000002.11:g.182938782_182938786del, NC_000002.11:g.182938783_182938786del, NC_000002.11:g.182938784_182938786del, NC_000002.11:g.182938785_182938786del, NC_000002.11:g.182938786del, NC_000002.11:g.182938786dup, NC_000002.11:g.182938785_182938786dup, NC_000002.11:g.182938784_182938786dup, NC_000002.11:g.182938779_182938786dup

Select item 14915353842.

rs1491535384 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:182074042 (GRCh38)
2:182938770 (GRCh37)
Canonical SPDI:: NC_000002.12:182074042:T:TCT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.182074043_182074044insCT, NC_000002.11:g.182938770_182938771insCT

Select item 14915247723.

rs1491524772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:182116459 (GRCh38)
2:182981187 (GRCh37)
Canonical SPDI:: NC_000002.12:182116459:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TG=0.000029/4 (GnomAD)
TG=0.000049/13 (TOPMED)
HGVS:: NC_000002.12:g.182116461GT[6], NC_000002.11:g.182981188GT[6]

Select item 14915184174.

rs1491518417 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:181972508 (GRCh38)
2:182837235 (GRCh37)
Canonical SPDI:: NC_000002.12:181972504:ACACA:ACA
Gene:: PPP1R1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.000253/3 (ALFA)
-=0.000078/11 (GnomAD)
-=0.001093/5 (1000Genomes)
HGVS:: NC_000002.12:g.181972506CA[1], NC_000002.11:g.182837233CA[1]

Select item 14914871995.

rs1491487199 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:182090317 (GRCh38)
2:182955044 (GRCh37)
Canonical SPDI:: NC_000002.12:182090316:CA:
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.025045/3492 (GnomAD)
-=0.028107/180 (1000Genomes)
HGVS:: NC_000002.12:g.182090317_182090318del, NC_000002.11:g.182955044_182955045del

Select item 14914370156.

rs1491437015 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:181954299 (GRCh38)
2:182819027 (GRCh37)
Canonical SPDI:: NC_000002.12:181954299::T
Gene:: PPP1R1C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000671/3 (ALFA)
T=0.00076/104 (GnomAD)
HGVS:: NC_000002.12:g.181954299_181954300insT, NC_000002.11:g.182819026_182819027insT, NR_048567.1:n.59_60insT

Select item 14914191657.

rs1491419165 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:182020788 (GRCh38)
2:182885516 (GRCh37)
Canonical SPDI:: NC_000002.12:182020788:T:TT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.182020789dup, NC_000002.11:g.182885516dup

Select item 14913964668.

rs1491396466 has merged into rs558576219 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 2:182066968 (GRCh38)
2:182931695 (GRCh37)
Canonical SPDI:: NC_000002.12:182066966:TTT:T,NC_000002.12:182066966:TTT:TT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.439218/5210 (ALFA)
TT=0.162141/812 (1000Genomes)
TT=0.26/156 (NorthernSweden)
TT=0.367179/49130 (GnomAD)
TT=0.425/17 (GENOME_DK)
TT=0.467741/7838 (TOMMO)
HGVS:: NC_000002.12:g.182066968_182066969del, NC_000002.12:g.182066969del, NC_000002.11:g.182931695_182931696del, NC_000002.11:g.182931696del

Select item 14913638099.

rs1491363809 has merged into rs3064017 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:182066988 (GRCh38)
2:182931715 (GRCh37)
Canonical SPDI:: NC_000002.12:182066968:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:182066968:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182066968:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182066968:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182066968:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182066968:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182066968:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.02048/12 (NorthernSweden)
HGVS:: NC_000002.12:g.182066970GT[9], NC_000002.12:g.182066970GT[10], NC_000002.12:g.182066970GT[11], NC_000002.12:g.182066970GT[12], NC_000002.12:g.182066970GT[14], NC_000002.12:g.182066970GT[15], NC_000002.12:g.182066970GT[17], NC_000002.11:g.182931697GT[9], NC_000002.11:g.182931697GT[10], NC_000002.11:g.182931697GT[11], NC_000002.11:g.182931697GT[12], NC_000002.11:g.182931697GT[14], NC_000002.11:g.182931697GT[15], NC_000002.11:g.182931697GT[17]

Select item 149135540610.

rs1491355406 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 2:182002928 (GRCh38)
2:182867655 (GRCh37)
Canonical SPDI:: NC_000002.12:182002927:CC:
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0887/329 (TWINSUK)
-=0.0926/357 (ALSPAC)
HGVS:: NC_000002.12:g.182002928_182002929del, NC_000002.11:g.182867655_182867656del

Select item 149133640211.

rs1491336402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:182090317 (GRCh38)
2:182955045 (GRCh37)
Canonical SPDI:: NC_000002.12:182090317:A:AA
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000035/3 (GnomAD)
A=0.000071/2 (TOMMO)
HGVS:: NC_000002.12:g.182090318dup, NC_000002.11:g.182955045dup

Select item 149124234012.

rs1491242340 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:182086930 (GRCh38)
2:182951658 (GRCh37)
Canonical SPDI:: NC_000002.12:182086930::A
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.182086930_182086931insA, NC_000002.11:g.182951657_182951658insA

Select item 149119656813.

rs1491196568 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 2:182086930 (GRCh38)
2:182951657 (GRCh37)
Canonical SPDI:: NC_000002.12:182086929:CC:
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000002.12:g.182086930_182086931del, NC_000002.11:g.182951657_182951658del

Select item 149110391814.

rs1491103918 has merged into rs56977896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:182008096 (GRCh38)
2:182872823 (GRCh37)
Canonical SPDI:: NC_000002.12:182008094:ATA:A
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.182008096_182008097del, NC_000002.11:g.182872823_182872824del

Select item 149109076215.

rs1491090762 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:182020788 (GRCh38)
2:182885515 (GRCh37)
Canonical SPDI:: NC_000002.12:182020787:GT:
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.182020788_182020789del, NC_000002.11:g.182885515_182885516del

Select item 149107326616.

rs1491073266 has merged into rs61015359 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:181997236 (GRCh38)
2:182861963 (GRCh37)
Canonical SPDI:: NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:181997228:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.181997236_181997245del, NC_000002.12:g.181997239_181997245del, NC_000002.12:g.181997240_181997245del, NC_000002.12:g.181997242_181997245del, NC_000002.12:g.181997243_181997245del, NC_000002.12:g.181997244_181997245del, NC_000002.12:g.181997245del, NC_000002.12:g.181997245dup, NC_000002.12:g.181997244_181997245dup, NC_000002.12:g.181997243_181997245dup, NC_000002.12:g.181997242_181997245dup, NC_000002.12:g.181997241_181997245dup, NC_000002.12:g.181997239_181997245dup, NC_000002.12:g.181997238_181997245dup, NC_000002.11:g.182861963_182861972del, NC_000002.11:g.182861966_182861972del, NC_000002.11:g.182861967_182861972del, NC_000002.11:g.182861969_182861972del, NC_000002.11:g.182861970_182861972del, NC_000002.11:g.182861971_182861972del, NC_000002.11:g.182861972del, NC_000002.11:g.182861972dup, NC_000002.11:g.182861971_182861972dup, NC_000002.11:g.182861970_182861972dup, NC_000002.11:g.182861969_182861972dup, NC_000002.11:g.182861968_182861972dup, NC_000002.11:g.182861966_182861972dup, NC_000002.11:g.182861965_182861972dup

Select item 149104570317.

rs1491045703 has merged into rs3063151 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 2:182117704 (GRCh38)
2:182982431 (GRCh37)
Canonical SPDI:: NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:182117692:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: PPP1R1C (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
-=0.4319/1325 (1000Genomes)
HGVS:: NC_000002.12:g.182117694TG[5], NC_000002.12:g.182117694TG[6], NC_000002.12:g.182117694TG[7], NC_000002.12:g.182117694TG[8], NC_000002.12:g.182117694TG[9], NC_000002.12:g.182117694TG[11], NC_000002.12:g.182117694TG[12], NC_000002.12:g.182117694TG[13], NC_000002.12:g.182117694TG[14], NC_000002.12:g.182117694TG[15], NC_000002.11:g.182982421TG[5], NC_000002.11:g.182982421TG[6], NC_000002.11:g.182982421TG[7], NC_000002.11:g.182982421TG[8], NC_000002.11:g.182982421TG[9], NC_000002.11:g.182982421TG[11], NC_000002.11:g.182982421TG[12], NC_000002.11:g.182982421TG[13], NC_000002.11:g.182982421TG[14], NC_000002.11:g.182982421TG[15], NM_001080545.3:c.*399TG[5], NM_001080545.3:c.*399TG[6], NM_001080545.3:c.*399TG[7], NM_001080545.3:c.*399TG[8], NM_001080545.3:c.*399TG[9], NM_001080545.3:c.*399TG[11], NM_001080545.3:c.*399TG[12], NM_001080545.3:c.*399TG[13], NM_001080545.3:c.*399TG[14], NM_001080545.3:c.*399TG[15], NM_001080545.2:c.*399TG[5], NM_001080545.2:c.*399TG[6], NM_001080545.2:c.*399TG[7], NM_001080545.2:c.*399TG[8], NM_001080545.2:c.*399TG[9], NM_001080545.2:c.*399TG[11], NM_001080545.2:c.*399TG[12], NM_001080545.2:c.*399TG[13], NM_001080545.2:c.*399TG[14], NM_001080545.2:c.*399TG[15], NR_048567.2:n.788TG[5], NR_048567.2:n.788TG[6], NR_048567.2:n.788TG[7], NR_048567.2:n.788TG[8], NR_048567.2:n.788TG[9], NR_048567.2:n.788TG[11], NR_048567.2:n.788TG[12], NR_048567.2:n.788TG[13], NR_048567.2:n.788TG[14], NR_048567.2:n.788TG[15], NR_048567.1:n.1027TG[5], NR_048567.1:n.1027TG[6], NR_048567.1:n.1027TG[7], NR_048567.1:n.1027TG[8], NR_048567.1:n.1027TG[9], NR_048567.1:n.1027TG[11], NR_048567.1:n.1027TG[12], NR_048567.1:n.1027TG[13], NR_048567.1:n.1027TG[14], NR_048567.1:n.1027TG[15], XM_017003451.1:c.*399TG[5], XM_017003451.1:c.*399TG[6], XM_017003451.1:c.*399TG[7], XM_017003451.1:c.*399TG[8], XM_017003451.1:c.*399TG[9], XM_017003451.1:c.*399TG[11], XM_017003451.1:c.*399TG[12], XM_017003451.1:c.*399TG[13], XM_017003451.1:c.*399TG[14], XM_017003451.1:c.*399TG[15]

Select item 149104551918.

rs1491045519 has merged into rs3064024 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:182049345 (GRCh38)
2:182914072 (GRCh37)
Canonical SPDI:: NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:182049332:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.182049345_182049351del, NC_000002.12:g.182049346_182049351del, NC_000002.12:g.182049347_182049351del, NC_000002.12:g.182049349_182049351del, NC_000002.12:g.182049350_182049351del, NC_000002.12:g.182049351del, NC_000002.12:g.182049351dup, NC_000002.12:g.182049350_182049351dup, NC_000002.12:g.182049349_182049351dup, NC_000002.12:g.182049348_182049351dup, NC_000002.12:g.182049347_182049351dup, NC_000002.12:g.182049346_182049351dup, NC_000002.11:g.182914072_182914078del, NC_000002.11:g.182914073_182914078del, NC_000002.11:g.182914074_182914078del, NC_000002.11:g.182914076_182914078del, NC_000002.11:g.182914077_182914078del, NC_000002.11:g.182914078del, NC_000002.11:g.182914078dup, NC_000002.11:g.182914077_182914078dup, NC_000002.11:g.182914076_182914078dup, NC_000002.11:g.182914075_182914078dup, NC_000002.11:g.182914074_182914078dup, NC_000002.11:g.182914073_182914078dup

Select item 149103096319.

rs1491030963 has merged into rs113337793 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:182003703 (GRCh38)
2:182868430 (GRCh37)
Canonical SPDI:: NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182003687:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTG=0.0651/326 (1000Genomes)
HGVS:: NC_000002.12:g.182003689GT[7], NC_000002.12:g.182003689GT[8], NC_000002.12:g.182003689GT[9], NC_000002.12:g.182003689GT[11], NC_000002.12:g.182003689GT[12], NC_000002.12:g.182003689GT[13], NC_000002.12:g.182003689GT[14], NC_000002.12:g.182003689GT[15], NC_000002.12:g.182003689GT[16], NC_000002.11:g.182868416GT[7], NC_000002.11:g.182868416GT[8], NC_000002.11:g.182868416GT[9], NC_000002.11:g.182868416GT[11], NC_000002.11:g.182868416GT[12], NC_000002.11:g.182868416GT[13], NC_000002.11:g.182868416GT[14], NC_000002.11:g.182868416GT[15], NC_000002.11:g.182868416GT[16]

Select item 149102672720.

rs1491026727 has merged into rs142618201 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:182090309 (GRCh38)
2:182955036 (GRCh37)
Canonical SPDI:: NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:182090289:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PPP1R1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.025/125 (1000Genomes)
HGVS:: NC_000002.12:g.182090291GT[9], NC_000002.12:g.182090291GT[10], NC_000002.12:g.182090291GT[11], NC_000002.12:g.182090291GT[12], NC_000002.12:g.182090291GT[14], NC_000002.12:g.182090291GT[15], NC_000002.12:g.182090291GT[16], NC_000002.12:g.182090291GT[17], NC_000002.12:g.182090291GT[18], NC_000002.12:g.182090291GT[19], NC_000002.12:g.182090291GT[20], NC_000002.12:g.182090291GT[21], NC_000002.12:g.182090291GT[22], NC_000002.12:g.182090291GT[23], NC_000002.12:g.182090291GT[24], NC_000002.12:g.182090291GT[25], NC_000002.12:g.182090291GT[26], NC_000002.12:g.182090291GT[27], NC_000002.12:g.182090291GT[28], NC_000002.12:g.182090291GT[29], NC_000002.12:g.182090291GT[30], NC_000002.11:g.182955018GT[9], NC_000002.11:g.182955018GT[10], NC_000002.11:g.182955018GT[11], NC_000002.11:g.182955018GT[12], NC_000002.11:g.182955018GT[14], NC_000002.11:g.182955018GT[15], NC_000002.11:g.182955018GT[16], NC_000002.11:g.182955018GT[17], NC_000002.11:g.182955018GT[18], NC_000002.11:g.182955018GT[19], NC_000002.11:g.182955018GT[20], NC_000002.11:g.182955018GT[21], NC_000002.11:g.182955018GT[22], NC_000002.11:g.182955018GT[23], NC_000002.11:g.182955018GT[24], NC_000002.11:g.182955018GT[25], NC_000002.11:g.182955018GT[26], NC_000002.11:g.182955018GT[27], NC_000002.11:g.182955018GT[28], NC_000002.11:g.182955018GT[29], NC_000002.11:g.182955018GT[30]

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