SNP Links for Gene (Select 6482) - SNP

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Select item 14915863191.

rs1491586319 has merged into rs58705195 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 8:133525875 (GRCh38)
8:134538118 (GRCh37)
Canonical SPDI:: NC_000008.11:133525874:GGGGGG:GGGGG,NC_000008.11:133525874:GGGGGG:GGGGGGG
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.00782/29 (TWINSUK)
-=0.01116/43 (ALSPAC)
-=0.015/9 (NorthernSweden)
-=0.01787/80 (Estonian)
-=0.02204/22 (GoNL)
HGVS:: NC_000008.11:g.133525880del, NC_000008.11:g.133525880dup, NC_000008.10:g.134538123del, NC_000008.10:g.134538123dup, NM_018395.1:c.297del, NM_018395.1:c.297dup

Select item 14915627122.

rs1491562712 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:133551566 (GRCh38)
8:134563809 (GRCh37)
Canonical SPDI:: NC_000008.11:133551564:AGA:A
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.133551566_133551567del, NC_000008.10:g.134563809_134563810del

Select item 14915428183.

rs1491542818 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:133542112 (GRCh38)
8:134554356 (GRCh37)
Canonical SPDI:: NC_000008.11:133542112::A
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00195/33 (TOMMO)
A=0.01247/1025 (GnomAD)
HGVS:: NC_000008.11:g.133542112_133542113insA, NC_000008.10:g.134554355_134554356insA

Select item 14915362924.

rs1491536292 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 8:133562841 (GRCh38)
8:134575084 (GRCh37)
Canonical SPDI:: NC_000008.11:133562840:CC:
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.133562841_133562842del, NC_000008.10:g.134575084_134575085del

Select item 14915352265.

rs1491535226 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAG [Show Flanks]
Chromosome:: 8:133551555 (GRCh38)
8:134563799 (GRCh37)
Canonical SPDI:: NC_000008.11:133551555:AAG:AAGGAAG
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAG=0./0 (ALFA)
HGVS:: NC_000008.11:g.133551558_133551559insGAAG, NC_000008.10:g.134563801_134563802insGAAG

Select item 14915289966.

rs1491528996 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTTTTTCTT [Show Flanks]
Chromosome:: 8:133562837 (GRCh38)
8:134575081 (GRCh37)
Canonical SPDI:: NC_000008.11:133562837:CTT:CTTTCTTTTTCTT
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTTTCTT=0.00202/24 (ALFA)
HGVS:: NC_000008.11:g.133562838_133562840CTTT[2]TTCTT[1], NC_000008.10:g.134575081_134575083CTTT[2]TTCTT[1]

Select item 14915243587.

rs1491524358 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:133497456 (GRCh38)
8:134509699 (GRCh37)
Canonical SPDI:: NC_000008.11:133497455:AT:
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03962/470 (ALFA)
-=0.0448/641 (TOMMO)
-=0.10687/10059 (GnomAD)
HGVS:: NC_000008.11:g.133497456_133497457del, NC_000008.10:g.134509699_134509700del

Select item 14915202678.

rs1491520267 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:133487979 (GRCh38)
8:134500222 (GRCh37)
Canonical SPDI:: NC_000008.11:133487978:AG:
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000008.11:g.133487979_133487980del, NC_000008.10:g.134500222_134500223del

Select item 14915182539.

rs1491518253 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:133546478 (GRCh38)
8:134558721 (GRCh37)
Canonical SPDI:: NC_000008.11:133546477:CA:
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00371/44 (ALFA)
-=0.00202/57 (TOMMO)
HGVS:: NC_000008.11:g.133546478_133546479del, NC_000008.10:g.134558721_134558722del

Select item 149150894510.

rs1491508945 has merged into rs34571050 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 8:133559050 (GRCh38)
8:134571293 (GRCh37)
Canonical SPDI:: NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:133559035:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000008.11:g.133559036TG[7], NC_000008.11:g.133559036TG[8], NC_000008.11:g.133559036TG[9], NC_000008.11:g.133559036TG[10], NC_000008.11:g.133559036TG[11], NC_000008.11:g.133559036TG[12], NC_000008.11:g.133559036TG[14], NC_000008.11:g.133559036TG[15], NC_000008.11:g.133559036TG[16], NC_000008.11:g.133559036TG[17], NC_000008.11:g.133559036TG[18], NC_000008.11:g.133559036TG[19], NC_000008.10:g.134571279TG[7], NC_000008.10:g.134571279TG[8], NC_000008.10:g.134571279TG[9], NC_000008.10:g.134571279TG[10], NC_000008.10:g.134571279TG[11], NC_000008.10:g.134571279TG[12], NC_000008.10:g.134571279TG[14], NC_000008.10:g.134571279TG[15], NC_000008.10:g.134571279TG[16], NC_000008.10:g.134571279TG[17], NC_000008.10:g.134571279TG[18], NC_000008.10:g.134571279TG[19]

Select item 149150013811.

rs1491500138 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:133494936 (GRCh38)
8:134507179 (GRCh37)
Canonical SPDI:: NC_000008.11:133494935:TG:
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.022/359 (ALFA)
-=0.000178/5 (TOMMO)
-=0.001232/134 (GnomAD)
HGVS:: NC_000008.11:g.133494936_133494937del, NC_000008.10:g.134507179_134507180del

Select item 149149599712.

rs1491495997 has merged into rs35321251 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:133542790 (GRCh38)
8:134555033 (GRCh37)
Canonical SPDI:: NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:133542779:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAA=0.3592/1799 (1000Genomes)
HGVS:: NC_000008.11:g.133542790_133542801del, NC_000008.11:g.133542791_133542801del, NC_000008.11:g.133542792_133542801del, NC_000008.11:g.133542795_133542801del, NC_000008.11:g.133542796_133542801del, NC_000008.11:g.133542797_133542801del, NC_000008.11:g.133542798_133542801del, NC_000008.11:g.133542799_133542801del, NC_000008.11:g.133542800_133542801del, NC_000008.11:g.133542801del, NC_000008.11:g.133542801dup, NC_000008.11:g.133542800_133542801dup, NC_000008.11:g.133542799_133542801dup, NC_000008.11:g.133542798_133542801dup, NC_000008.11:g.133542797_133542801dup, NC_000008.11:g.133542796_133542801dup, NC_000008.11:g.133542795_133542801dup, NC_000008.11:g.133542794_133542801dup, NC_000008.11:g.133542793_133542801dup, NC_000008.11:g.133542792_133542801dup, NC_000008.11:g.133542801_133542802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.134555033_134555044del, NC_000008.10:g.134555034_134555044del, NC_000008.10:g.134555035_134555044del, NC_000008.10:g.134555038_134555044del, NC_000008.10:g.134555039_134555044del, NC_000008.10:g.134555040_134555044del, NC_000008.10:g.134555041_134555044del, NC_000008.10:g.134555042_134555044del, NC_000008.10:g.134555043_134555044del, NC_000008.10:g.134555044del, NC_000008.10:g.134555044dup, NC_000008.10:g.134555043_134555044dup, NC_000008.10:g.134555042_134555044dup, NC_000008.10:g.134555041_134555044dup, NC_000008.10:g.134555040_134555044dup, NC_000008.10:g.134555039_134555044dup, NC_000008.10:g.134555038_134555044dup, NC_000008.10:g.134555037_134555044dup, NC_000008.10:g.134555036_134555044dup, NC_000008.10:g.134555035_134555044dup, NC_000008.10:g.134555044_134555045insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149149396813.

rs1491493968 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:133551565 (GRCh38)
8:134563809 (GRCh37)
Canonical SPDI:: NC_000008.11:133551565:G:GG
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000857/116 (GnomAD)
HGVS:: NC_000008.11:g.133551566dup, NC_000008.10:g.134563809dup

Select item 149148026314.

rs1491480263 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAGGA [Show Flanks]
Chromosome:: 8:133551557 (GRCh38)
8:134563801 (GRCh37)
Canonical SPDI:: NC_000008.11:133551557:GA:GAGAAGGA
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGAAGGA=0./0 (ALFA)
HGVS:: NC_000008.11:g.133551558_133551559GA[2]AGGA[1], NC_000008.10:g.134563801_134563802GA[2]AGGA[1]

Select item 149145325015.

rs1491453250 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:133542779 (GRCh38)
8:134555022 (GRCh37)
Canonical SPDI:: NC_000008.11:133542778:CA:
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.133542779_133542780del, NC_000008.10:g.134555022_134555023del

Select item 149145164016.

rs1491451640 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:133551563 (GRCh38)
8:134563807 (GRCh37)
Canonical SPDI:: NC_000008.11:133551563::G
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000854/115 (GnomAD)
HGVS:: NC_000008.11:g.133551563_133551564insG, NC_000008.10:g.134563806_134563807insG

Select item 149144105417.

rs1491441054 has merged into rs11374505 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:133562860 (GRCh38)
8:134575103 (GRCh37)
Canonical SPDI:: NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:133562850:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000008.11:g.133562860_133562867del, NC_000008.11:g.133562861_133562867del, NC_000008.11:g.133562862_133562867del, NC_000008.11:g.133562863_133562867del, NC_000008.11:g.133562864_133562867del, NC_000008.11:g.133562865_133562867del, NC_000008.11:g.133562866_133562867del, NC_000008.11:g.133562867del, NC_000008.11:g.133562867dup, NC_000008.11:g.133562866_133562867dup, NC_000008.11:g.133562859_133562867dup, NC_000008.11:g.133562851_133562867dup, NC_000008.10:g.134575103_134575110del, NC_000008.10:g.134575104_134575110del, NC_000008.10:g.134575105_134575110del, NC_000008.10:g.134575106_134575110del, NC_000008.10:g.134575107_134575110del, NC_000008.10:g.134575108_134575110del, NC_000008.10:g.134575109_134575110del, NC_000008.10:g.134575110del, NC_000008.10:g.134575110dup, NC_000008.10:g.134575109_134575110dup, NC_000008.10:g.134575102_134575110dup, NC_000008.10:g.134575094_134575110dup

Select item 149139475718.

rs1491394757 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 8:133562837 (GRCh38)
8:134575080 (GRCh37)
Canonical SPDI:: NC_000008.11:133562836:CC:
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000821/14 (TOMMO)
-=0.005051/3 (NorthernSweden)
-=0.007304/774 (GnomAD)
HGVS:: NC_000008.11:g.133562837_133562838del, NC_000008.10:g.134575080_134575081del

Select item 149137221019.

rs1491372210 has merged into rs1278765126 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGACAGA [Show Flanks]
Chromosome:: 8:133551558 (GRCh38)
8:134563801 (GRCh37)
Canonical SPDI:: NC_000008.11:133551556:AGA:A,NC_000008.11:133551556:AGA:AGAGA,NC_000008.11:133551556:AGA:AGAGACAGA
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000008.11:g.133551558_133551559del, NC_000008.11:g.133551558_133551559dup, NC_000008.11:g.133551557_133551559AG[2]ACAGA[1], NC_000008.10:g.134563801_134563802del, NC_000008.10:g.134563801_134563802dup, NC_000008.10:g.134563800_134563802AG[2]ACAGA[1]

Select item 149134273020.

rs1491342730 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAGAAAGAAAG [Show Flanks]
Chromosome:: 8:133551603 (GRCh38)
8:134563847 (GRCh37)
Canonical SPDI:: NC_000008.11:133551603:AAGAAAGAAAG:AAGAAAGAAAGGAAGAAAGAAAG
Gene:: ST3GAL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAAGGAAGAAAGAAAG=0.000169/2 (ALFA)
AAGAAAGAAAGG=0.002623/361 (GnomAD)
HGVS:: NC_000008.11:g.133551604_133551614AAGA[2]AAGGAAGAAAGAAAG[1], NC_000008.10:g.134563847_134563857AAGA[2]AAGGAAGAAAGAAAG[1]

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