SNP Links for Gene (Select 286205) - SNP

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Select item 14915483871.

rs1491548387 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 9:125126567 (GRCh38)
9:127888846 (GRCh37)
Canonical SPDI:: NC_000009.12:125126565:GGG:G,NC_000009.12:125126565:GGG:GGGGG
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/2 (ALFA)
-=0.000153/18 (GnomAD)
-=0.000425/7 (TOMMO)
-=0.001094/2 (Korea1K)
HGVS:: NC_000009.12:g.125126567_125126568del, NC_000009.12:g.125126567_125126568dup, NC_000009.11:g.127888846_127888847del, NC_000009.11:g.127888846_127888847dup, NG_016620.1:g.21993_21994del, NG_016620.1:g.21993_21994dup

Select item 14915282992.

rs1491528299 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:125126566 (GRCh38)
9:127888846 (GRCh37)
Canonical SPDI:: NC_000009.12:125126566::T
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000035/1 (TOMMO)
T=0.001452/170 (GnomAD)
T=0.002186/14 (1000Genomes)
HGVS:: NC_000009.12:g.125126566_125126567insT, NC_000009.11:g.127888845_127888846insT, NG_016620.1:g.21993_21994insA

Select item 14915280633.

rs1491528063 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:125042858 (GRCh38)
9:127805137 (GRCh37)
Canonical SPDI:: NC_000009.12:125042857:CT:
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.125042858_125042859del, NC_000009.11:g.127805137_127805138del, NG_016620.1:g.105701_105702del

Select item 14915247704.

rs1491524770 has merged into rs143876924 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 9:125126468 (GRCh38)
9:127888747 (GRCh37)
Canonical SPDI:: NC_000009.12:125126458:AGAGAGAGAGAGA:AGAGAGAGA,NC_000009.12:125126458:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000009.12:125126458:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000009.12:125126458:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0.00379/61 (ALFA)
AG=0.00401/4 (GoNL)
AG=0.01228/55 (Estonian)
AG=0.18777/3138 (TOMMO)
AG=0.21421/392 (Korea1K)
HGVS:: NC_000009.12:g.125126460GA[4], NC_000009.12:g.125126460GA[5], NC_000009.12:g.125126460GA[7], NC_000009.12:g.125126460GA[8], NC_000009.11:g.127888739GA[4], NC_000009.11:g.127888739GA[5], NC_000009.11:g.127888739GA[7], NC_000009.11:g.127888739GA[8], NG_016620.1:g.22090CT[4], NG_016620.1:g.22090CT[5], NG_016620.1:g.22090CT[7], NG_016620.1:g.22090CT[8]

Select item 14914996165.

rs1491499616 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:125069640 (GRCh38)
9:127831919 (GRCh37)
Canonical SPDI:: NC_000009.12:125069639:TG:
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000009.12:g.125069640_125069641del, NC_000009.11:g.127831919_127831920del, NG_016620.1:g.78919_78920del

Select item 14914897086.

rs1491489708 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT [Show Flanks]
Chromosome:: 9:125145172 (GRCh38)
9:127907452 (GRCh37)
Canonical SPDI:: NC_000009.12:125145172:TGTGT:TGTGTGTGT
Gene:: SCAI (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGT=0./0 (ALFA)
TGTG=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.125145174GT[4], NC_000009.11:g.127907453GT[4], NG_016620.1:g.3384CA[4]

Select item 14914661437.

rs1491466143 has merged into rs35467160 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:124982691 (GRCh38)
9:127744970 (GRCh37)
Canonical SPDI:: NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124982679:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.124982691_124982702del, NC_000009.12:g.124982695_124982702del, NC_000009.12:g.124982696_124982702del, NC_000009.12:g.124982700_124982702del, NC_000009.12:g.124982701_124982702del, NC_000009.12:g.124982702del, NC_000009.12:g.124982702dup, NC_000009.12:g.124982701_124982702dup, NC_000009.12:g.124982700_124982702dup, NC_000009.12:g.124982699_124982702dup, NC_000009.12:g.124982698_124982702dup, NC_000009.12:g.124982695_124982702dup, NC_000009.11:g.127744970_127744981del, NC_000009.11:g.127744974_127744981del, NC_000009.11:g.127744975_127744981del, NC_000009.11:g.127744979_127744981del, NC_000009.11:g.127744980_127744981del, NC_000009.11:g.127744981del, NC_000009.11:g.127744981dup, NC_000009.11:g.127744980_127744981dup, NC_000009.11:g.127744979_127744981dup, NC_000009.11:g.127744978_127744981dup, NC_000009.11:g.127744977_127744981dup, NC_000009.11:g.127744974_127744981dup, NG_016620.1:g.165869_165880del, NG_016620.1:g.165873_165880del, NG_016620.1:g.165874_165880del, NG_016620.1:g.165878_165880del, NG_016620.1:g.165879_165880del, NG_016620.1:g.165880del, NG_016620.1:g.165880dup, NG_016620.1:g.165879_165880dup, NG_016620.1:g.165878_165880dup, NG_016620.1:g.165877_165880dup, NG_016620.1:g.165876_165880dup, NG_016620.1:g.165873_165880dup

Select item 14914601668.

rs1491460166 has merged into rs3222316 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTG>-,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 9:125126402 (GRCh38)
9:127888681 (GRCh37)
Canonical SPDI:: NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:125126392:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
-=0.13042/3683 (TOMMO)
HGVS:: NC_000009.12:g.125126394TG[4], NC_000009.12:g.125126394TG[6], NC_000009.12:g.125126394TG[8], NC_000009.12:g.125126394TG[9], NC_000009.12:g.125126394TG[10], NC_000009.12:g.125126394TG[11], NC_000009.12:g.125126394TG[12], NC_000009.12:g.125126394TG[13], NC_000009.12:g.125126394TG[14], NC_000009.12:g.125126394TG[16], NC_000009.12:g.125126394TG[17], NC_000009.12:g.125126394TG[18], NC_000009.11:g.127888673TG[4], NC_000009.11:g.127888673TG[6], NC_000009.11:g.127888673TG[8], NC_000009.11:g.127888673TG[9], NC_000009.11:g.127888673TG[10], NC_000009.11:g.127888673TG[11], NC_000009.11:g.127888673TG[12], NC_000009.11:g.127888673TG[13], NC_000009.11:g.127888673TG[14], NC_000009.11:g.127888673TG[16], NC_000009.11:g.127888673TG[17], NC_000009.11:g.127888673TG[18], NG_016620.1:g.22138AC[4], NG_016620.1:g.22138AC[6], NG_016620.1:g.22138AC[8], NG_016620.1:g.22138AC[9], NG_016620.1:g.22138AC[10], NG_016620.1:g.22138AC[11], NG_016620.1:g.22138AC[12], NG_016620.1:g.22138AC[13], NG_016620.1:g.22138AC[14], NG_016620.1:g.22138AC[16], NG_016620.1:g.22138AC[17], NG_016620.1:g.22138AC[18]

Select item 14914177639.

rs1491417763 has merged into rs55938057 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:124951071 (GRCh38)
9:127713350 (GRCh37)
Canonical SPDI:: NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124951059:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCAI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3596/1801 (1000Genomes)
HGVS:: NC_000009.12:g.124951071_124951079del, NC_000009.12:g.124951072_124951079del, NC_000009.12:g.124951075_124951079del, NC_000009.12:g.124951076_124951079del, NC_000009.12:g.124951077_124951079del, NC_000009.12:g.124951078_124951079del, NC_000009.12:g.124951079del, NC_000009.12:g.124951079dup, NC_000009.12:g.124951078_124951079dup, NC_000009.12:g.124951077_124951079dup, NC_000009.12:g.124951075_124951079dup, NC_000009.12:g.124951073_124951079dup, NC_000009.11:g.127713350_127713358del, NC_000009.11:g.127713351_127713358del, NC_000009.11:g.127713354_127713358del, NC_000009.11:g.127713355_127713358del, NC_000009.11:g.127713356_127713358del, NC_000009.11:g.127713357_127713358del, NC_000009.11:g.127713358del, NC_000009.11:g.127713358dup, NC_000009.11:g.127713357_127713358dup, NC_000009.11:g.127713356_127713358dup, NC_000009.11:g.127713354_127713358dup, NC_000009.11:g.127713352_127713358dup, NG_016620.1:g.197492_197500del, NG_016620.1:g.197493_197500del, NG_016620.1:g.197496_197500del, NG_016620.1:g.197497_197500del, NG_016620.1:g.197498_197500del, NG_016620.1:g.197499_197500del, NG_016620.1:g.197500del, NG_016620.1:g.197500dup, NG_016620.1:g.197499_197500dup, NG_016620.1:g.197498_197500dup, NG_016620.1:g.197496_197500dup, NG_016620.1:g.197494_197500dup, NM_173690.5:c.*1739_*1747del, NM_173690.5:c.*1740_*1747del, NM_173690.5:c.*1743_*1747del, NM_173690.5:c.*1744_*1747del, NM_173690.5:c.*1745_*1747del, NM_173690.5:c.*1746_*1747del, NM_173690.5:c.*1747del, NM_173690.5:c.*1747dup, NM_173690.5:c.*1746_*1747dup, NM_173690.5:c.*1745_*1747dup, NM_173690.5:c.*1743_*1747dup, NM_173690.5:c.*1741_*1747dup, NM_173690.4:c.*1739_*1747del, NM_173690.4:c.*1740_*1747del, NM_173690.4:c.*1743_*1747del, NM_173690.4:c.*1744_*1747del, NM_173690.4:c.*1745_*1747del, NM_173690.4:c.*1746_*1747del, NM_173690.4:c.*1747del, NM_173690.4:c.*1747dup, NM_173690.4:c.*1746_*1747dup, NM_173690.4:c.*1745_*1747dup, NM_173690.4:c.*1743_*1747dup, NM_173690.4:c.*1741_*1747dup, NM_001144877.3:c.*1739_*1747del, NM_001144877.3:c.*1740_*1747del, NM_001144877.3:c.*1743_*1747del, NM_001144877.3:c.*1744_*1747del, NM_001144877.3:c.*1745_*1747del, NM_001144877.3:c.*1746_*1747del, NM_001144877.3:c.*1747del, NM_001144877.3:c.*1747dup, NM_001144877.3:c.*1746_*1747dup, NM_001144877.3:c.*1745_*1747dup, NM_001144877.3:c.*1743_*1747dup, NM_001144877.3:c.*1741_*1747dup, NM_001144877.2:c.*1739_*1747del, NM_001144877.2:c.*1740_*1747del, NM_001144877.2:c.*1743_*1747del, NM_001144877.2:c.*1744_*1747del, NM_001144877.2:c.*1745_*1747del, NM_001144877.2:c.*1746_*1747del, NM_001144877.2:c.*1747del, NM_001144877.2:c.*1747dup, NM_001144877.2:c.*1746_*1747dup, NM_001144877.2:c.*1745_*1747dup, NM_001144877.2:c.*1743_*1747dup, NM_001144877.2:c.*1741_*1747dup

Select item 149139251510.

rs1491392515 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:125125517 (GRCh38)
9:127887796 (GRCh37)
Canonical SPDI:: NC_000009.12:125125515:ATA:A
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000009.12:g.125125517_125125518del, NC_000009.11:g.127887796_127887797del, NG_016620.1:g.23043_23044del

Select item 149138185011.

rs1491381850 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:124987333 (GRCh38)
9:127749612 (GRCh37)
Canonical SPDI:: NC_000009.12:124987331:TAT:T
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.124987333_124987334del, NC_000009.11:g.127749612_127749613del, NG_016620.1:g.161227_161228del

Select item 149137265312.

rs1491372653 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:124982679 (GRCh38)
9:127744958 (GRCh37)
Canonical SPDI:: NC_000009.12:124982678:CA:
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00012/7 (GnomAD)
-=0.00042/12 (TOMMO)
HGVS:: NC_000009.12:g.124982679_124982680del, NC_000009.11:g.127744958_127744959del, NG_016620.1:g.165880_165881del

Select item 149135772213.

rs1491357722 [Homo sapiens]

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

Select item 149135757814.

rs1491357578 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:124962170 (GRCh38)
9:127724449 (GRCh37)
Canonical SPDI:: NC_000009.12:124962169:TG:
Gene:: SCAI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000009.12:g.124962170_124962171del, NC_000009.11:g.127724449_127724450del, NG_016620.1:g.186389_186390del

Select item 149135756115.

rs1491357561 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:125046317 (GRCh38)
9:127808597 (GRCh37)
Canonical SPDI:: NC_000009.12:125046317::T
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0359/225 (GnomAD)
HGVS:: NC_000009.12:g.125046317_125046318insT, NC_000009.11:g.127808596_127808597insT, NG_016620.1:g.102242_102243insA

Select item 149135437316.

rs1491354373 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTGTGTACACACAAACAC [Show Flanks]
Chromosome:: 9:125042635 (GRCh38)
9:127804915 (GRCh37)
Canonical SPDI:: NC_000009.12:125042635::TGTGTGTACACACAAACAC
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.125042635_125042636insTGTGTGTACACACAAACAC, NC_000009.11:g.127804914_127804915insTGTGTGTACACACAAACAC, NG_016620.1:g.105924_105925insGTGTTTGTGTGTACACACA

Select item 149135316017.

rs1491353160 has merged into rs770118712 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:125042870 (GRCh38)
9:127805149 (GRCh37)
Canonical SPDI:: NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125042858:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000009.12:g.125042870_125042888del, NC_000009.12:g.125042871_125042888del, NC_000009.12:g.125042872_125042888del, NC_000009.12:g.125042873_125042888del, NC_000009.12:g.125042874_125042888del, NC_000009.12:g.125042875_125042888del, NC_000009.12:g.125042876_125042888del, NC_000009.12:g.125042877_125042888del, NC_000009.12:g.125042878_125042888del, NC_000009.12:g.125042879_125042888del, NC_000009.12:g.125042880_125042888del, NC_000009.12:g.125042881_125042888del, NC_000009.12:g.125042882_125042888del, NC_000009.12:g.125042883_125042888del, NC_000009.12:g.125042884_125042888del, NC_000009.12:g.125042885_125042888del, NC_000009.12:g.125042886_125042888del, NC_000009.12:g.125042887_125042888del, NC_000009.12:g.125042888del, NC_000009.12:g.125042888dup, NC_000009.12:g.125042887_125042888dup, NC_000009.12:g.125042886_125042888dup, NC_000009.12:g.125042885_125042888dup, NC_000009.12:g.125042884_125042888dup, NC_000009.12:g.125042883_125042888dup, NC_000009.12:g.125042882_125042888dup, NC_000009.12:g.125042881_125042888dup, NC_000009.11:g.127805149_127805167del, NC_000009.11:g.127805150_127805167del, NC_000009.11:g.127805151_127805167del, NC_000009.11:g.127805152_127805167del, NC_000009.11:g.127805153_127805167del, NC_000009.11:g.127805154_127805167del, NC_000009.11:g.127805155_127805167del, NC_000009.11:g.127805156_127805167del, NC_000009.11:g.127805157_127805167del, NC_000009.11:g.127805158_127805167del, NC_000009.11:g.127805159_127805167del, NC_000009.11:g.127805160_127805167del, NC_000009.11:g.127805161_127805167del, NC_000009.11:g.127805162_127805167del, NC_000009.11:g.127805163_127805167del, NC_000009.11:g.127805164_127805167del, NC_000009.11:g.127805165_127805167del, NC_000009.11:g.127805166_127805167del, NC_000009.11:g.127805167del, NC_000009.11:g.127805167dup, NC_000009.11:g.127805166_127805167dup, NC_000009.11:g.127805165_127805167dup, NC_000009.11:g.127805164_127805167dup, NC_000009.11:g.127805163_127805167dup, NC_000009.11:g.127805162_127805167dup, NC_000009.11:g.127805161_127805167dup, NC_000009.11:g.127805160_127805167dup, NG_016620.1:g.105683_105701del, NG_016620.1:g.105684_105701del, NG_016620.1:g.105685_105701del, NG_016620.1:g.105686_105701del, NG_016620.1:g.105687_105701del, NG_016620.1:g.105688_105701del, NG_016620.1:g.105689_105701del, NG_016620.1:g.105690_105701del, NG_016620.1:g.105691_105701del, NG_016620.1:g.105692_105701del, NG_016620.1:g.105693_105701del, NG_016620.1:g.105694_105701del, NG_016620.1:g.105695_105701del, NG_016620.1:g.105696_105701del, NG_016620.1:g.105697_105701del, NG_016620.1:g.105698_105701del, NG_016620.1:g.105699_105701del, NG_016620.1:g.105700_105701del, NG_016620.1:g.105701del, NG_016620.1:g.105701dup, NG_016620.1:g.105700_105701dup, NG_016620.1:g.105699_105701dup, NG_016620.1:g.105698_105701dup, NG_016620.1:g.105697_105701dup, NG_016620.1:g.105696_105701dup, NG_016620.1:g.105695_105701dup, NG_016620.1:g.105694_105701dup

Select item 149133805118.

rs1491338051 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATAAATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATATA,ATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 9:125032196 (GRCh38)
9:127794476 (GRCh37)
Canonical SPDI:: NC_000009.12:125032196::A,NC_000009.12:125032196::ATA,NC_000009.12:125032196::ATAAATA,NC_000009.12:125032196::ATATA,NC_000009.12:125032196::ATATATA,NC_000009.12:125032196::ATATATATA,NC_000009.12:125032196::ATATATATATA,NC_000009.12:125032196::ATATATATATATA,NC_000009.12:125032196::ATATATATATATATATA,NC_000009.12:125032196::ATATATATATATATATATATATATA
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.04172/61 (Korea1K)
HGVS:: NC_000009.12:g.125032196_125032197insA, NC_000009.12:g.125032196_125032197insATA, NC_000009.12:g.125032196_125032197insATAAATA, NC_000009.12:g.125032196_125032197insATATA, NC_000009.12:g.125032196_125032197insATATATA, NC_000009.12:g.125032196_125032197insATATATATA, NC_000009.12:g.125032196_125032197insATATATATATA, NC_000009.12:g.125032196_125032197insATATATATATATA, NC_000009.12:g.125032196_125032197insATATATATATATATATA, NC_000009.12:g.125032196_125032197insATATATATATATATATATATATATA, NC_000009.11:g.127794475_127794476insA, NC_000009.11:g.127794475_127794476insATA, NC_000009.11:g.127794475_127794476insATAAATA, NC_000009.11:g.127794475_127794476insATATA, NC_000009.11:g.127794475_127794476insATATATA, NC_000009.11:g.127794475_127794476insATATATATA, NC_000009.11:g.127794475_127794476insATATATATATA, NC_000009.11:g.127794475_127794476insATATATATATATA, NC_000009.11:g.127794475_127794476insATATATATATATATATA, NC_000009.11:g.127794475_127794476insATATATATATATATATATATATATA, NG_016620.1:g.116363_116364insT, NG_016620.1:g.116363_116364insTAT, NG_016620.1:g.116363_116364insTATTTAT, NG_016620.1:g.116363_116364insTATAT, NG_016620.1:g.116363_116364insTATATAT, NG_016620.1:g.116363_116364insTATATATAT, NG_016620.1:g.116363_116364insTATATATATAT, NG_016620.1:g.116363_116364insTATATATATATAT, NG_016620.1:g.116363_116364insTATATATATATATATAT, NG_016620.1:g.116363_116364insTATATATATATATATATATATATAT

Select item 149133293419.

rs1491332934 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:125052872 (GRCh38)
9:127815151 (GRCh37)
Canonical SPDI:: NC_000009.12:125052871:CA:
Gene:: SCAI (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001281/18 (ALFA)
-=0.001198/6 (1000Genomes)
-=0.001232/326 (TOPMED)
-=0.001575/161 (GnomAD)
HGVS:: NC_000009.12:g.125052872_125052873del, NC_000009.11:g.127815151_127815152del, NG_016620.1:g.95687_95688del

Select item 149132137120.

rs1491321371 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:124951059 (GRCh38)
9:127713338 (GRCh37)
Canonical SPDI:: NC_000009.12:124951058:TA:
Gene:: SCAI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.124951059_124951060del, NC_000009.11:g.127713338_127713339del, NG_016620.1:g.197500_197501del, NM_173690.5:c.*1747_*1748del, NM_173690.4:c.*1747_*1748del, NM_001144877.3:c.*1747_*1748del, NM_001144877.2:c.*1747_*1748del

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