SNP Links for Nucleotide (Select 345478658) - SNP

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Select item 14915854481.

rs1491585448 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:151252755 (GRCh38)
6:151573890 (GRCh37)
Canonical SPDI:: NC_000006.12:151252753:AGA:A
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.151252755_151252756del, NC_000006.11:g.151573890_151573891del, NG_029875.1:g.17757_17758del

Select item 14915508972.

rs1491550897 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:151298807 (GRCh38)
6:151619943 (GRCh37)
Canonical SPDI:: NC_000006.12:151298807::G
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.151298807_151298808insG, NC_000006.11:g.151619942_151619943insG, NG_029875.1:g.63809_63810insG, NG_016636.1:g.226_227insC

Select item 14915424463.

rs1491542446 [Homo sapiens]

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

Select item 14915362854.

rs1491536285 has merged into rs146314242 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATAGATATATATATAGATATATATATATATA,TATATATATATATAGATATATATATATAGATATATATATATATA,TATATATATATATAGATATATATATATATA,TATATATATATATAGATATATATATATATATA,TATATATATATATAGATATATCTCTATATAGATATATATATATATA,TATATATATATATAGATATATCTCTATATAGATATATATATATATAGATATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 6:151319529 (GRCh38)
6:151640664 (GRCh37)
Canonical SPDI:: NC_000006.12:151319527:ATATATATATATA:A,NC_000006.12:151319527:ATATATATATATA:ATA,NC_000006.12:151319527:ATATATATATATA:ATATA,NC_000006.12:151319527:ATATATATATATA:ATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATAGATATATATATAGATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATAGATATATATATATAGATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATAGATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATAGATATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATAGATATATCTCTATATAGATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATAGATATATCTCTATATAGATATATATATATATAGATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATATATATATATATA,NC_000006.12:151319527:ATATATATATATA:ATATATATATATATATATATATATATATA
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
AT=0.135/81 (NorthernSweden)
HGVS:: NC_000006.12:g.151319529_151319540del, NC_000006.12:g.151319529TA[1], NC_000006.12:g.151319529TA[2], NC_000006.12:g.151319529TA[3], NC_000006.12:g.151319529TA[4], NC_000006.12:g.151319529TA[5], NC_000006.12:g.151319529TA[7], NC_000006.12:g.151319528_151319540AT[7]AGATATATATAT[2]AT[2]A[1], NC_000006.12:g.151319528_151319540AT[7]AGATATATATATAT[2]ATA[1], NC_000006.12:g.151319528_151319540AT[7]AGATATATATATATATA[1], NC_000006.12:g.151319528_151319540AT[7]AGATATATATATATATATA[1], NC_000006.12:g.151319528_151319540AT[7]AGATATATCTCTATATAGATATATATATATATA[1], NC_000006.12:g.151319528_151319540AT[7]AGATATATCTCTATATAGATATATATATATATAGATATATATATATATA[1], NC_000006.12:g.151319529TA[8], NC_000006.12:g.151319529TA[9], NC_000006.12:g.151319529TA[10], NC_000006.12:g.151319529TA[11], NC_000006.12:g.151319529TA[12], NC_000006.12:g.151319529TA[13], NC_000006.12:g.151319529TA[14], NC_000006.11:g.151640664_151640675del, NC_000006.11:g.151640664TA[1], NC_000006.11:g.151640664TA[2], NC_000006.11:g.151640664TA[3], NC_000006.11:g.151640664TA[4], NC_000006.11:g.151640664TA[5], NC_000006.11:g.151640664TA[7], NC_000006.11:g.151640663_151640675AT[7]AGATATATATAT[2]AT[2]A[1], NC_000006.11:g.151640663_151640675AT[7]AGATATATATATAT[2]ATA[1], NC_000006.11:g.151640663_151640675AT[7]AGATATATATATATATA[1], NC_000006.11:g.151640663_151640675AT[7]AGATATATATATATATATA[1], NC_000006.11:g.151640663_151640675AT[7]AGATATATCTCTATATAGATATATATATATATA[1], NC_000006.11:g.151640663_151640675AT[7]AGATATATCTCTATATAGATATATATATATATAGATATATATATATATA[1], NC_000006.11:g.151640664TA[8], NC_000006.11:g.151640664TA[9], NC_000006.11:g.151640664TA[10], NC_000006.11:g.151640664TA[11], NC_000006.11:g.151640664TA[12], NC_000006.11:g.151640664TA[13], NC_000006.11:g.151640664TA[14], NG_029875.1:g.84531_84542del, NG_029875.1:g.84531TA[1], NG_029875.1:g.84531TA[2], NG_029875.1:g.84531TA[3], NG_029875.1:g.84531TA[4], NG_029875.1:g.84531TA[5], NG_029875.1:g.84531TA[7], NG_029875.1:g.84530_84542AT[7]AGATATATATAT[2]AT[2]A[1], NG_029875.1:g.84530_84542AT[7]AGATATATATATAT[2]ATA[1], NG_029875.1:g.84530_84542AT[7]AGATATATATATATATA[1], NG_029875.1:g.84530_84542AT[7]AGATATATATATATATATA[1], NG_029875.1:g.84530_84542AT[7]AGATATATCTCTATATAGATATATATATATATA[1], NG_029875.1:g.84530_84542AT[7]AGATATATCTCTATATAGATATATATATATATAGATATATATATATATA[1], NG_029875.1:g.84531TA[8], NG_029875.1:g.84531TA[9], NG_029875.1:g.84531TA[10], NG_029875.1:g.84531TA[11], NG_029875.1:g.84531TA[12], NG_029875.1:g.84531TA[13], NG_029875.1:g.84531TA[14]

Select item 14915229225.

rs1491522922 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTTGT,GTTGTTTTTTGT [Show Flanks]
Chromosome:: 6:151321904 (GRCh38)
6:151643040 (GRCh37)
Canonical SPDI:: NC_000006.12:151321904:T:TGT,NC_000006.12:151321904:T:TGTTGT,NC_000006.12:151321904:T:TGTTGTTTTTTGT
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGT=0./0 (ALFA)
HGVS:: NC_000006.12:g.151321905_151321906insGT, NC_000006.12:g.151321905_151321906insGTTGT, NC_000006.12:g.151321905TGT[2]T[5]GT[1], NC_000006.11:g.151643040_151643041insGT, NC_000006.11:g.151643040_151643041insGTTGT, NC_000006.11:g.151643040TGT[2]T[5]GT[1], NG_029875.1:g.86907_86908insGT, NG_029875.1:g.86907_86908insGTTGT, NG_029875.1:g.86907TGT[2]T[5]GT[1]

Select item 14915186166.

rs1491518616 has merged into rs979438335 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 6:151286952 (GRCh38)
6:151608087 (GRCh37)
Canonical SPDI:: NC_000006.12:151286943:TTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:151286943:TTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:151286943:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:151286943:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:151286943:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:151286943:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:151286943:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.00099/17 (TOMMO)
HGVS:: NC_000006.12:g.151286952_151286956del, NC_000006.12:g.151286953_151286956del, NC_000006.12:g.151286954_151286956del, NC_000006.12:g.151286955_151286956del, NC_000006.12:g.151286956del, NC_000006.12:g.151286956dup, NC_000006.12:g.151286955_151286956dup, NC_000006.11:g.151608087_151608091del, NC_000006.11:g.151608088_151608091del, NC_000006.11:g.151608089_151608091del, NC_000006.11:g.151608090_151608091del, NC_000006.11:g.151608091del, NC_000006.11:g.151608091dup, NC_000006.11:g.151608090_151608091dup, NG_029875.1:g.51954_51958del, NG_029875.1:g.51955_51958del, NG_029875.1:g.51956_51958del, NG_029875.1:g.51957_51958del, NG_029875.1:g.51958del, NG_029875.1:g.51958dup, NG_029875.1:g.51957_51958dup

Select item 14915154567.

rs1491515456 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:151309972 (GRCh38)
6:151631107 (GRCh37)
Canonical SPDI:: NC_000006.12:151309971:GA:
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000026/3 (GnomAD)
HGVS:: NC_000006.12:g.151309972_151309973del, NC_000006.11:g.151631107_151631108del, NG_029875.1:g.74974_74975del

Select item 14915124918.

rs1491512491 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATC [Show Flanks]
Chromosome:: 6:151319466 (GRCh38)
6:151640602 (GRCh37)
Canonical SPDI:: NC_000006.12:151319466:ATC:ATCATC
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATCATC=0./0 (ALFA)
HGVS:: NC_000006.12:g.151319467_151319469dup, NC_000006.11:g.151640602_151640604dup, NG_029875.1:g.84469_84471dup

Select item 14915075449.

rs1491507544 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:151299756 (GRCh38)
6:151620891 (GRCh37)
Canonical SPDI:: NC_000006.12:151299755:GT:
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.151299756_151299757del, NC_000006.11:g.151620891_151620892del, NG_029875.1:g.64758_64759del

Select item 149150440110.

rs1491504401 has merged into rs59482970 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:151241836 (GRCh38)
6:151562971 (GRCh37)
Canonical SPDI:: NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.151241836_151241843del, NC_000006.12:g.151241838_151241843del, NC_000006.12:g.151241839_151241843del, NC_000006.12:g.151241840_151241843del, NC_000006.12:g.151241841_151241843del, NC_000006.12:g.151241842_151241843del, NC_000006.12:g.151241843del, NC_000006.12:g.151241843dup, NC_000006.12:g.151241842_151241843dup, NC_000006.12:g.151241841_151241843dup, NC_000006.12:g.151241840_151241843dup, NC_000006.12:g.151241839_151241843dup, NC_000006.12:g.151241834_151241843dup, NC_000006.11:g.151562971_151562978del, NC_000006.11:g.151562973_151562978del, NC_000006.11:g.151562974_151562978del, NC_000006.11:g.151562975_151562978del, NC_000006.11:g.151562976_151562978del, NC_000006.11:g.151562977_151562978del, NC_000006.11:g.151562978del, NC_000006.11:g.151562978dup, NC_000006.11:g.151562977_151562978dup, NC_000006.11:g.151562976_151562978dup, NC_000006.11:g.151562975_151562978dup, NC_000006.11:g.151562974_151562978dup, NC_000006.11:g.151562969_151562978dup, NG_029875.1:g.6838_6845del, NG_029875.1:g.6840_6845del, NG_029875.1:g.6841_6845del, NG_029875.1:g.6842_6845del, NG_029875.1:g.6843_6845del, NG_029875.1:g.6844_6845del, NG_029875.1:g.6845del, NG_029875.1:g.6845dup, NG_029875.1:g.6844_6845dup, NG_029875.1:g.6843_6845dup, NG_029875.1:g.6842_6845dup, NG_029875.1:g.6841_6845dup, NG_029875.1:g.6836_6845dup

Select item 149149449711.

rs1491494497 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:151331239 (GRCh38)
6:151652374 (GRCh37)
Canonical SPDI:: NC_000006.12:151331238:CT:
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/6 (GnomAD)
HGVS:: NC_000006.12:g.151331239_151331240del, NC_000006.11:g.151652374_151652375del, NG_029875.1:g.96241_96242del

Select item 149148411112.

rs1491484111 has merged into rs11415941 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:151321915 (GRCh38)
6:151643050 (GRCh37)
Canonical SPDI:: NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:151321903:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.151321915_151321928del, NC_000006.12:g.151321917_151321928del, NC_000006.12:g.151321918_151321928del, NC_000006.12:g.151321919_151321928del, NC_000006.12:g.151321920_151321928del, NC_000006.12:g.151321921_151321928del, NC_000006.12:g.151321922_151321928del, NC_000006.12:g.151321923_151321928del, NC_000006.12:g.151321924_151321928del, NC_000006.12:g.151321925_151321928del, NC_000006.12:g.151321926_151321928del, NC_000006.12:g.151321927_151321928del, NC_000006.12:g.151321928del, NC_000006.12:g.151321928dup, NC_000006.12:g.151321927_151321928dup, NC_000006.12:g.151321926_151321928dup, NC_000006.12:g.151321925_151321928dup, NC_000006.12:g.151321924_151321928dup, NC_000006.12:g.151321923_151321928dup, NC_000006.12:g.151321922_151321928dup, NC_000006.12:g.151321921_151321928dup, NC_000006.12:g.151321920_151321928dup, NC_000006.12:g.151321919_151321928dup, NC_000006.12:g.151321918_151321928dup, NC_000006.12:g.151321917_151321928dup, NC_000006.12:g.151321916_151321928dup, NC_000006.12:g.151321915_151321928dup, NC_000006.12:g.151321912_151321928dup, NC_000006.12:g.151321928_151321929insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.151643050_151643063del, NC_000006.11:g.151643052_151643063del, NC_000006.11:g.151643053_151643063del, NC_000006.11:g.151643054_151643063del, NC_000006.11:g.151643055_151643063del, NC_000006.11:g.151643056_151643063del, NC_000006.11:g.151643057_151643063del, NC_000006.11:g.151643058_151643063del, NC_000006.11:g.151643059_151643063del, NC_000006.11:g.151643060_151643063del, NC_000006.11:g.151643061_151643063del, NC_000006.11:g.151643062_151643063del, NC_000006.11:g.151643063del, NC_000006.11:g.151643063dup, NC_000006.11:g.151643062_151643063dup, NC_000006.11:g.151643061_151643063dup, NC_000006.11:g.151643060_151643063dup, NC_000006.11:g.151643059_151643063dup, NC_000006.11:g.151643058_151643063dup, NC_000006.11:g.151643057_151643063dup, NC_000006.11:g.151643056_151643063dup, NC_000006.11:g.151643055_151643063dup, NC_000006.11:g.151643054_151643063dup, NC_000006.11:g.151643053_151643063dup, NC_000006.11:g.151643052_151643063dup, NC_000006.11:g.151643051_151643063dup, NC_000006.11:g.151643050_151643063dup, NC_000006.11:g.151643047_151643063dup, NC_000006.11:g.151643063_151643064insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029875.1:g.86917_86930del, NG_029875.1:g.86919_86930del, NG_029875.1:g.86920_86930del, NG_029875.1:g.86921_86930del, NG_029875.1:g.86922_86930del, NG_029875.1:g.86923_86930del, NG_029875.1:g.86924_86930del, NG_029875.1:g.86925_86930del, NG_029875.1:g.86926_86930del, NG_029875.1:g.86927_86930del, NG_029875.1:g.86928_86930del, NG_029875.1:g.86929_86930del, NG_029875.1:g.86930del, NG_029875.1:g.86930dup, NG_029875.1:g.86929_86930dup, NG_029875.1:g.86928_86930dup, NG_029875.1:g.86927_86930dup, NG_029875.1:g.86926_86930dup, NG_029875.1:g.86925_86930dup, NG_029875.1:g.86924_86930dup, NG_029875.1:g.86923_86930dup, NG_029875.1:g.86922_86930dup, NG_029875.1:g.86921_86930dup, NG_029875.1:g.86920_86930dup, NG_029875.1:g.86919_86930dup, NG_029875.1:g.86918_86930dup, NG_029875.1:g.86917_86930dup, NG_029875.1:g.86914_86930dup, NG_029875.1:g.86930_86931insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149148219713.

rs1491482197 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:151241827 (GRCh38)
6:151562963 (GRCh37)
Canonical SPDI:: NC_000006.12:151241827::G
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000043/1 (GnomAD)
HGVS:: NC_000006.12:g.151241827_151241828insG, NC_000006.11:g.151562962_151562963insG, NG_029875.1:g.6829_6830insG

Select item 149148022514.

rs1491480225 has merged into rs5880922 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 6:151240792 (GRCh38)
6:151561927 (GRCh37)
Canonical SPDI:: NC_000006.12:151240786:GGGGGGG:GGGGG,NC_000006.12:151240786:GGGGGGG:GGGGGG,NC_000006.12:151240786:GGGGGGG:GGGGGGGG
Gene:: AKAP12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.35/14 (GENOME_DK)
G=0.4126/1530 (TWINSUK)
G=0.4131/1592 (ALSPAC)
G=0.4224/245 (NorthernSweden)
HGVS:: NC_000006.12:g.151240792_151240793del, NC_000006.12:g.151240793del, NC_000006.12:g.151240793dup, NC_000006.11:g.151561927_151561928del, NC_000006.11:g.151561928del, NC_000006.11:g.151561928dup, NG_029875.1:g.5794_5795del, NG_029875.1:g.5795del, NG_029875.1:g.5795dup

Select item 149146899115.

rs1491468991 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:151314029 (GRCh38)
6:151635164 (GRCh37)
Canonical SPDI:: NC_000006.12:151314028:AT:
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.151314029_151314030del, NC_000006.11:g.151635164_151635165del, NG_029875.1:g.79031_79032del

Select item 149145241516.

rs1491452415 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:151285422 (GRCh38)
6:151606557 (GRCh37)
Canonical SPDI:: NC_000006.12:151285420:TCT:T
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0067/25 (TWINSUK)
-=0.0093/36 (ALSPAC)
HGVS:: NC_000006.12:g.151285422_151285423del, NC_000006.11:g.151606557_151606558del, NG_029875.1:g.50424_50425del

Select item 149144775117.

rs1491447751 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:151245656 (GRCh38)
6:151566791 (GRCh37)
Canonical SPDI:: NC_000006.12:151245655:CA:
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00059/1 (Korea1K)
HGVS:: NC_000006.12:g.151245656_151245657del, NC_000006.11:g.151566791_151566792del, NG_029875.1:g.10658_10659del

Select item 149144484118.

rs1491444841 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:151252754 (GRCh38)
6:151573890 (GRCh37)
Canonical SPDI:: NC_000006.12:151252754:G:GG
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.151252755dup, NC_000006.11:g.151573890dup, NG_029875.1:g.17757dup

Select item 149144018519.

rs1491440185 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:151286944 (GRCh38)
6:151608080 (GRCh37)
Canonical SPDI:: NC_000006.12:151286944::G
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.151286944_151286945insG, NC_000006.11:g.151608079_151608080insG, NG_029875.1:g.51946_51947insG

Select item 149142026820.

rs1491420268 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:151278673 (GRCh38)
6:151599808 (GRCh37)
Canonical SPDI:: NC_000006.12:151278672:GT:
Gene:: AKAP12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.151278673_151278674del, NC_000006.11:g.151599808_151599809del, NG_029875.1:g.43675_43676del

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