SNP Links for Gene (Select 26051) - SNP

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Select item 14915772041.

rs1491577204 has merged into rs58456397 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:38912514 (GRCh38)
20:37541157 (GRCh37)
Canonical SPDI:: NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP1R16B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38912514_38912523del, NC_000020.11:g.38912515_38912523del, NC_000020.11:g.38912516_38912523del, NC_000020.11:g.38912518_38912523del, NC_000020.11:g.38912519_38912523del, NC_000020.11:g.38912520_38912523del, NC_000020.11:g.38912521_38912523del, NC_000020.11:g.38912522_38912523del, NC_000020.11:g.38912523del, NC_000020.11:g.38912523dup, NC_000020.11:g.38912522_38912523dup, NC_000020.11:g.38912521_38912523dup, NC_000020.11:g.38912520_38912523dup, NC_000020.11:g.38912519_38912523dup, NC_000020.11:g.38912518_38912523dup, NC_000020.11:g.38912517_38912523dup, NC_000020.11:g.38912516_38912523dup, NC_000020.10:g.37541157_37541166del, NC_000020.10:g.37541158_37541166del, NC_000020.10:g.37541159_37541166del, NC_000020.10:g.37541161_37541166del, NC_000020.10:g.37541162_37541166del, NC_000020.10:g.37541163_37541166del, NC_000020.10:g.37541164_37541166del, NC_000020.10:g.37541165_37541166del, NC_000020.10:g.37541166del, NC_000020.10:g.37541166dup, NC_000020.10:g.37541165_37541166dup, NC_000020.10:g.37541164_37541166dup, NC_000020.10:g.37541163_37541166dup, NC_000020.10:g.37541162_37541166dup, NC_000020.10:g.37541161_37541166dup, NC_000020.10:g.37541160_37541166dup, NC_000020.10:g.37541159_37541166dup

Select item 14915762882.

rs1491576288 has merged into rs35869936 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 20:38919017 (GRCh38)
20:37547660 (GRCh37)
Canonical SPDI:: NC_000020.11:38919001:ACACACACACACACACACA:ACACACACACACACA,NC_000020.11:38919001:ACACACACACACACACACA:ACACACACACACACACA,NC_000020.11:38919001:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000020.11:38919001:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000020.11:38919001:ACACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: PPP1R16B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACACA=0./0 (ALFA)
ACACAC=0.000246/65 (TOPMED)
AC=0.240815/1206 (1000Genomes)
HGVS:: NC_000020.11:g.38919003CA[7], NC_000020.11:g.38919003CA[8], NC_000020.11:g.38919003CA[10], NC_000020.11:g.38919003CA[11], NC_000020.11:g.38919003CA[12], NC_000020.10:g.37547646CA[7], NC_000020.10:g.37547646CA[8], NC_000020.10:g.37547646CA[10], NC_000020.10:g.37547646CA[11], NC_000020.10:g.37547646CA[12], XM_011528768.4:c.*337CA[7], XM_011528768.4:c.*337CA[8], XM_011528768.4:c.*337CA[10], XM_011528768.4:c.*337CA[11], XM_011528768.4:c.*337CA[12], XM_011528768.3:c.*337CA[7], XM_011528768.3:c.*337CA[8], XM_011528768.3:c.*337CA[10], XM_011528768.3:c.*337CA[11], XM_011528768.3:c.*337CA[12], XM_011528768.2:c.*337CA[7], XM_011528768.2:c.*337CA[8], XM_011528768.2:c.*337CA[10], XM_011528768.2:c.*337CA[11], XM_011528768.2:c.*337CA[12], XM_011528768.1:c.*337CA[7], XM_011528768.1:c.*337CA[8], XM_011528768.1:c.*337CA[10], XM_011528768.1:c.*337CA[11], XM_011528768.1:c.*337CA[12], NM_015568.4:c.*337CA[7], NM_015568.4:c.*337CA[8], NM_015568.4:c.*337CA[10], NM_015568.4:c.*337CA[11], NM_015568.4:c.*337CA[12], NM_015568.3:c.*337CA[7], NM_015568.3:c.*337CA[8], NM_015568.3:c.*337CA[10], NM_015568.3:c.*337CA[11], NM_015568.3:c.*337CA[12], NM_015568.2:c.*337CA[7], NM_015568.2:c.*337CA[8], NM_015568.2:c.*337CA[10], NM_015568.2:c.*337CA[11], NM_015568.2:c.*337CA[12], NM_001172735.3:c.*337CA[7], NM_001172735.3:c.*337CA[8], NM_001172735.3:c.*337CA[10], NM_001172735.3:c.*337CA[11], NM_001172735.3:c.*337CA[12], NM_001172735.2:c.*337CA[7], NM_001172735.2:c.*337CA[8], NM_001172735.2:c.*337CA[10], NM_001172735.2:c.*337CA[11], NM_001172735.2:c.*337CA[12], NM_001172735.1:c.*337CA[7], NM_001172735.1:c.*337CA[8], NM_001172735.1:c.*337CA[10], NM_001172735.1:c.*337CA[11], NM_001172735.1:c.*337CA[12], XM_047440086.1:c.*337CA[7], XM_047440086.1:c.*337CA[8], XM_047440086.1:c.*337CA[10], XM_047440086.1:c.*337CA[11], XM_047440086.1:c.*337CA[12]

Select item 14915387493.

rs1491538749 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 20:38849682 (GRCh38)
20:37478326 (GRCh37)
Canonical SPDI:: NC_000020.11:38849682:AA:AAA,NC_000020.11:38849682:AA:AAAA,NC_000020.11:38849682:AA:AAAAA
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
A=0.001664/21 (TOMMO)
A=0.013636/6 (NorthernSweden)
HGVS:: NC_000020.11:g.38849684dup, NC_000020.11:g.38849683_38849684dup, NC_000020.11:g.38849684_38849685insAAA, NC_000020.10:g.37478327dup, NC_000020.10:g.37478326_37478327dup, NC_000020.10:g.37478327_37478328insAAA

Select item 14915165884.

rs1491516588 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:38810006 (GRCh38)
20:37438650 (GRCh37)
Canonical SPDI:: NC_000020.11:38810006:C:CC
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000020.11:g.38810007dup, NC_000020.10:g.37438650dup

Select item 14915000765.

rs1491500076 has merged into rs869187206 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:38861682 (GRCh38)
20:37490325 (GRCh37)
Canonical SPDI:: NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38861673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.38861682_38861694del, NC_000020.11:g.38861683_38861694del, NC_000020.11:g.38861684_38861694del, NC_000020.11:g.38861685_38861694del, NC_000020.11:g.38861687_38861694del, NC_000020.11:g.38861688_38861694del, NC_000020.11:g.38861691_38861694del, NC_000020.11:g.38861692_38861694del, NC_000020.11:g.38861693_38861694del, NC_000020.11:g.38861694del, NC_000020.11:g.38861694dup, NC_000020.11:g.38861693_38861694dup, NC_000020.11:g.38861692_38861694dup, NC_000020.11:g.38861691_38861694dup, NC_000020.11:g.38861690_38861694dup, NC_000020.11:g.38861689_38861694dup, NC_000020.11:g.38861688_38861694dup, NC_000020.11:g.38861687_38861694dup, NC_000020.10:g.37490325_37490337del, NC_000020.10:g.37490326_37490337del, NC_000020.10:g.37490327_37490337del, NC_000020.10:g.37490328_37490337del, NC_000020.10:g.37490330_37490337del, NC_000020.10:g.37490331_37490337del, NC_000020.10:g.37490334_37490337del, NC_000020.10:g.37490335_37490337del, NC_000020.10:g.37490336_37490337del, NC_000020.10:g.37490337del, NC_000020.10:g.37490337dup, NC_000020.10:g.37490336_37490337dup, NC_000020.10:g.37490335_37490337dup, NC_000020.10:g.37490334_37490337dup, NC_000020.10:g.37490333_37490337dup, NC_000020.10:g.37490332_37490337dup, NC_000020.10:g.37490331_37490337dup, NC_000020.10:g.37490330_37490337dup

Select item 14914900186.

rs1491490018 has merged into rs76331088 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:38849682 (GRCh38)
20:37478325 (GRCh37)
Canonical SPDI:: NC_000020.11:38849680:ACA:A
Gene:: PPP1R16B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.43829/5199 (ALFA)
HGVS:: NC_000020.11:g.38849682_38849683del, NC_000020.10:g.37478325_37478326del

Select item 14914746987.

rs1491474698 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 20:38861674 (GRCh38)
20:37490318 (GRCh37)
Canonical SPDI:: NC_000020.11:38861674:T:TCT
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38861675_38861676insCT, NC_000020.10:g.37490318_37490319insCT

Select item 14914322628.

rs1491432262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 20:38849686 (GRCh38)
20:37478330 (GRCh37)
Canonical SPDI:: NC_000020.11:38849686:A:ACA
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.38849687_38849688insCA, NC_000020.10:g.37478330_37478331insCA

Select item 14914200499.

rs1491420049 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 20:38916292 (GRCh38)
20:37544936 (GRCh37)
Canonical SPDI:: NC_000020.11:38916292:AA:AAAA
Gene:: PPP1R16B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
AA=0.000031/4 (GnomAD)
HGVS:: NC_000020.11:g.38916293_38916294dup, NC_000020.10:g.37544936_37544937dup

Select item 149140976510.

rs1491409765 has merged into rs1026446125 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATGT>-,TATATATGTTATATATGT [Show Flanks]
Chromosome:: 20:38916315 (GRCh38)
20:37544958 (GRCh37)
Canonical SPDI:: NC_000020.11:38916296:TATATATGTTATATATGTTATATATGT:TATATATGTTATATATGT,NC_000020.11:38916296:TATATATGTTATATATGTTATATATGT:TATATATGTTATATATGTTATATATGTTATATATGT
Gene:: PPP1R16B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATGTTATATATGTTATATATGTTATATATGT=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000020.11:g.38916297TATATATGT[2], NC_000020.11:g.38916297TATATATGT[4], NC_000020.10:g.37544940TATATATGT[2], NC_000020.10:g.37544940TATATATGT[4]

Select item 149139141611.

rs1491391416 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT,TATTAT,TATTATTAT [Show Flanks]
Chromosome:: 20:38813764 (GRCh38)
20:37442408 (GRCh37)
Canonical SPDI:: NC_000020.11:38813764:AT:ATTAT,NC_000020.11:38813764:AT:ATTATTAT,NC_000020.11:38813764:AT:ATTATTATTAT
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATTATTAT=0./0 (ALFA)
HGVS:: NC_000020.11:g.38813766_38813767insTAT, NC_000020.11:g.38813766_38813767insTATTAT, NC_000020.11:g.38813767TAT[3], NC_000020.10:g.37442409_37442410insTAT, NC_000020.10:g.37442409_37442410insTATTAT, NC_000020.10:g.37442410TAT[3]

Select item 149128565312.

rs1491285653 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:38844273 (GRCh38)
20:37472916 (GRCh37)
Canonical SPDI:: NC_000020.11:38844271:TGT:T
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.38844273_38844274del, NC_000020.10:g.37472916_37472917del

Select item 149123819913.

rs1491238199 has merged into rs1185726609 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:38852758 (GRCh38)
20:37481401 (GRCh37)
Canonical SPDI:: NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38852747:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R16B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.38852758_38852768del, NC_000020.11:g.38852759_38852768del, NC_000020.11:g.38852761_38852768del, NC_000020.11:g.38852762_38852768del, NC_000020.11:g.38852763_38852768del, NC_000020.11:g.38852764_38852768del, NC_000020.11:g.38852765_38852768del, NC_000020.11:g.38852766_38852768del, NC_000020.11:g.38852767_38852768del, NC_000020.11:g.38852768del, NC_000020.11:g.38852768dup, NC_000020.11:g.38852767_38852768dup, NC_000020.11:g.38852766_38852768dup, NC_000020.11:g.38852765_38852768dup, NC_000020.11:g.38852764_38852768dup, NC_000020.11:g.38852763_38852768dup, NC_000020.11:g.38852761_38852768dup, NC_000020.11:g.38852760_38852768dup, NC_000020.11:g.38852759_38852768dup, NC_000020.11:g.38852758_38852768dup, NC_000020.10:g.37481401_37481411del, NC_000020.10:g.37481402_37481411del, NC_000020.10:g.37481404_37481411del, NC_000020.10:g.37481405_37481411del, NC_000020.10:g.37481406_37481411del, NC_000020.10:g.37481407_37481411del, NC_000020.10:g.37481408_37481411del, NC_000020.10:g.37481409_37481411del, NC_000020.10:g.37481410_37481411del, NC_000020.10:g.37481411del, NC_000020.10:g.37481411dup, NC_000020.10:g.37481410_37481411dup, NC_000020.10:g.37481409_37481411dup, NC_000020.10:g.37481408_37481411dup, NC_000020.10:g.37481407_37481411dup, NC_000020.10:g.37481406_37481411dup, NC_000020.10:g.37481404_37481411dup, NC_000020.10:g.37481403_37481411dup, NC_000020.10:g.37481402_37481411dup, NC_000020.10:g.37481401_37481411dup

Select item 149115606414.

rs1491156064 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:38810007 (GRCh38)
20:37438650 (GRCh37)
Canonical SPDI:: NC_000020.11:38810005:ACA:A
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000337/4 (ALFA)
-=0.000618/86 (GnomAD)
HGVS:: NC_000020.11:g.38810007_38810008del, NC_000020.10:g.37438650_37438651del

Select item 149111884615.

rs1491118846 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:38813764 (GRCh38)
20:37442407 (GRCh37)
Canonical SPDI:: NC_000020.11:38813763:CA:
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000142/2 (TOMMO)
-=0.000184/22 (GnomAD)
HGVS:: NC_000020.11:g.38813764_38813765del, NC_000020.10:g.37442407_37442408del

Select item 149104968716.

rs1491049687 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:38910539 (GRCh38)
20:37539182 (GRCh37)
Canonical SPDI:: NC_000020.11:38910537:TGT:T
Gene:: PPP1R16B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000074/10 (GnomAD)
-=0.005482/10 (Korea1K)
HGVS:: NC_000020.11:g.38910539_38910540del, NC_000020.10:g.37539182_37539183del

Select item 149102783717.

rs1491027837 has merged into rs34445273 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:38875986 (GRCh38)
20:37504629 (GRCh37)
Canonical SPDI:: NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38875970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R16B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.38875986_38875990del, NC_000020.11:g.38875987_38875990del, NC_000020.11:g.38875988_38875990del, NC_000020.11:g.38875989_38875990del, NC_000020.11:g.38875990del, NC_000020.11:g.38875990dup, NC_000020.11:g.38875989_38875990dup, NC_000020.11:g.38875988_38875990dup, NC_000020.11:g.38875987_38875990dup, NC_000020.11:g.38875986_38875990dup, NC_000020.11:g.38875985_38875990dup, NC_000020.11:g.38875984_38875990dup, NC_000020.11:g.38875990_38875991insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.37504629_37504633del, NC_000020.10:g.37504630_37504633del, NC_000020.10:g.37504631_37504633del, NC_000020.10:g.37504632_37504633del, NC_000020.10:g.37504633del, NC_000020.10:g.37504633dup, NC_000020.10:g.37504632_37504633dup, NC_000020.10:g.37504631_37504633dup, NC_000020.10:g.37504630_37504633dup, NC_000020.10:g.37504629_37504633dup, NC_000020.10:g.37504628_37504633dup, NC_000020.10:g.37504627_37504633dup, NC_000020.10:g.37504633_37504634insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149102306518.

rs1491023065 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:38885060 (GRCh38)
20:37513703 (GRCh37)
Canonical SPDI:: NC_000020.11:38885058:AGA:A
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
-=0.00047/3 (1000Genomes)
HGVS:: NC_000020.11:g.38885060_38885061del, NC_000020.10:g.37513703_37513704del

Select item 149099910019.

rs1490999100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:38876902 (GRCh38)
20:37505545 (GRCh37)
Canonical SPDI:: NC_000020.11:38876901:C:G
Gene:: PPP1R16B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.38876902C>G, NC_000020.10:g.37505545C>G

Select item 149099826720.

rs1490998267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38804603 (GRCh38)
20:37433246 (GRCh37)
Canonical SPDI:: NC_000020.11:38804602:G:A
Gene:: PPP1R16B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000020.11:g.38804603G>A, NC_000020.10:g.37433246G>A

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