SNP Links for Gene (Select 148281) - SNP

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Select item 14915720031.

rs1491572003 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:114129523 (GRCh38)
1:114672146 (GRCh37)
Canonical SPDI:: NC_000001.11:114129523:C:CC
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.114129524dup, NC_000001.10:g.114672146dup, NG_050730.1:g.29327dup

Select item 14915675182.

rs1491567518 has merged into rs1037370449 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:114143574 (GRCh38)
1:114686196 (GRCh37)
Canonical SPDI:: NC_000001.11:114143558:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:114143558:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:114143558:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:114143558:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.00036/6 (TOMMO)
HGVS:: NC_000001.11:g.114143560GT[7], NC_000001.11:g.114143560GT[9], NC_000001.11:g.114143560GT[10], NC_000001.11:g.114143560GT[13], NC_000001.10:g.114686182GT[7], NC_000001.10:g.114686182GT[9], NC_000001.10:g.114686182GT[10], NC_000001.10:g.114686182GT[13], NG_050730.1:g.15277CA[7], NG_050730.1:g.15277CA[9], NG_050730.1:g.15277CA[10], NG_050730.1:g.15277CA[13]

Select item 14915633133.

rs1491563313 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 1:114149216 (GRCh38)
1:114691839 (GRCh37)
Canonical SPDI:: NC_000001.11:114149216:TT:TTTT
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TT=0.00101/16 (GnomAD)
HGVS:: NC_000001.11:g.114149217_114149218dup, NC_000001.10:g.114691839_114691840dup, NG_050730.1:g.9633_9634dup

Select item 14915422014.

rs1491542201 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:114129628 (GRCh38)
1:114672251 (GRCh37)
Canonical SPDI:: NC_000001.11:114129628:C:CC
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00005/1 (TOMMO)
HGVS:: NC_000001.11:g.114129629dup, NC_000001.10:g.114672251dup, NG_050730.1:g.29222dup

Select item 14915150535.

rs1491515053 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:114143558 (GRCh38)
1:114686180 (GRCh37)
Canonical SPDI:: NC_000001.11:114143557:AT:
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.005733/68 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000551/1 (Korea1K)
-=0.007191/974 (GnomAD)
HGVS:: NC_000001.11:g.114143558_114143559del, NC_000001.10:g.114686180_114686181del, NG_050730.1:g.15292_15293del

Select item 14914619746.

rs1491461974 has merged into rs149451162 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC [Show Flanks]
Chromosome:: 1:114122511 (GRCh38)
1:114665133 (GRCh37)
Canonical SPDI:: NC_000001.11:114122506:GCGCGC:GCGC,NC_000001.11:114122506:GCGCGC:GCGCGCGC,NC_000001.11:114122506:GCGCGC:GCGCGCGCGC,NC_000001.11:114122506:GCGCGC:GCGCGCGCGCGC,NC_000001.11:114122506:GCGCGC:GCGCGCGCGCGCGC,NC_000001.11:114122506:GCGCGC:GCGCGCGCGCGCGCGC
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.114122507GC[2], NC_000001.11:g.114122507GC[4], NC_000001.11:g.114122507GC[5], NC_000001.11:g.114122507GC[6], NC_000001.11:g.114122507GC[7], NC_000001.11:g.114122507GC[8], NC_000001.10:g.114665129GC[2], NC_000001.10:g.114665129GC[4], NC_000001.10:g.114665129GC[5], NC_000001.10:g.114665129GC[6], NC_000001.10:g.114665129GC[7], NC_000001.10:g.114665129GC[8], NG_050730.1:g.36339GC[2], NG_050730.1:g.36339GC[4], NG_050730.1:g.36339GC[5], NG_050730.1:g.36339GC[6], NG_050730.1:g.36339GC[7], NG_050730.1:g.36339GC[8]

Select item 14913231797.

rs1491323179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 1:114143559 (GRCh38)
1:114686182 (GRCh37)
Canonical SPDI:: NC_000001.11:114143559:G:GCG
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GC=0.000097/13 (GnomAD)
HGVS:: NC_000001.11:g.114143560_114143561insCG, NC_000001.10:g.114686182_114686183insCG, NG_050730.1:g.15291_15292insGC

Select item 14913169718.

rs1491316971 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:114092311 (GRCh38)
1:114634933 (GRCh37)
Canonical SPDI:: NC_000001.11:114092310:AC:
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00071/20 (TOMMO)
HGVS:: NC_000001.11:g.114092311_114092312del, NC_000001.10:g.114634933_114634934del, NG_050730.1:g.66539_66540del

Select item 14912654899.

rs1491265489 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:114149216 (GRCh38)
1:114691838 (GRCh37)
Canonical SPDI:: NC_000001.11:114149215:AT:
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000224/1 (ALFA)
-=0.001537/209 (GnomAD)
HGVS:: NC_000001.11:g.114149216_114149217del, NC_000001.10:g.114691838_114691839del, NG_050730.1:g.9634_9635del

Select item 149125126410.

rs1491251264 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 1:114129629 (GRCh38)
1:114672251 (GRCh37)
Canonical SPDI:: NC_000001.11:114129627:TCT:T,NC_000001.11:114129627:TCT:TCTCT
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000001.11:g.114129629_114129630del, NC_000001.11:g.114129629_114129630dup, NC_000001.10:g.114672251_114672252del, NC_000001.10:g.114672251_114672252dup, NG_050730.1:g.29222_29223del, NG_050730.1:g.29222_29223dup

Select item 149118797511.

rs1491187975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 1:114122482 (GRCh38)
1:114665105 (GRCh37)
Canonical SPDI:: NC_000001.11:114122482:G:GGG
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GG=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.114122483_114122484insGG, NC_000001.10:g.114665105_114665106insGG, NG_050730.1:g.36368_36369insCC

Select item 149118197112.

rs1491181971 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:114143557 (GRCh38)
1:114686179 (GRCh37)
Canonical SPDI:: NC_000001.11:114143556:CA:
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00003/3 (GnomAD)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.114143557_114143558del, NC_000001.10:g.114686179_114686180del, NG_050730.1:g.15293_15294del

Select item 149111543013.

rs1491115430 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:114129526 (GRCh38)
1:114672148 (GRCh37)
Canonical SPDI:: NC_000001.11:114129522:TCTCT:TCT
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.114129524CT[1], NC_000001.10:g.114672146CT[1], NG_050730.1:g.29325GA[1]

Select item 149107372614.

rs1491073726 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 1:114129633 (GRCh38)
1:114672255 (GRCh37)
Canonical SPDI:: NC_000001.11:114129631:TCT:T,NC_000001.11:114129631:TCT:TCTCT
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0.000122/2 (ALFA)
TC=0.000048/1 (TOMMO)
TC=0.001064/134 (GnomAD)
HGVS:: NC_000001.11:g.114129633_114129634del, NC_000001.11:g.114129633_114129634dup, NC_000001.10:g.114672255_114672256del, NC_000001.10:g.114672255_114672256dup, NG_050730.1:g.29218_29219del, NG_050730.1:g.29218_29219dup

Select item 149102062015.

rs1491020620 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTTTG,GTTTGTTTG,GTTTGTTTTTTTTTTTG [Show Flanks]
Chromosome:: 1:114145504 (GRCh38)
1:114688127 (GRCh37)
Canonical SPDI:: NC_000001.11:114145504::G,NC_000001.11:114145504::GTTTG,NC_000001.11:114145504::GTTTGTTTG,NC_000001.11:114145504::GTTTGTTTTTTTTTTTG
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTGTTTG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.114145504_114145505insG, NC_000001.11:g.114145504_114145505insGTTTG, NC_000001.11:g.114145504_114145505insGTTTGTTTG, NC_000001.11:g.114145504_114145505insGTTTGTTTTTTTTTTTG, NC_000001.10:g.114688126_114688127insG, NC_000001.10:g.114688126_114688127insGTTTG, NC_000001.10:g.114688126_114688127insGTTTGTTTG, NC_000001.10:g.114688126_114688127insGTTTGTTTTTTTTTTTG, NG_050730.1:g.13346_13347insC, NG_050730.1:g.13346_13347insCAAAC, NG_050730.1:g.13346_13347insCAAACAAAC, NG_050730.1:g.13346_13347insCAAAAAAAAAAACAAAC

Select item 149086995116.

rs1490869951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:114107008 (GRCh38)
1:114649630 (GRCh37)
Canonical SPDI:: NC_000001.11:114107007:C:A,NC_000001.11:114107007:C:T
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.114107008C>A, NC_000001.11:g.114107008C>T, NC_000001.10:g.114649630C>A, NC_000001.10:g.114649630C>T, NG_050730.1:g.51843G>T, NG_050730.1:g.51843G>A

Select item 149076556817.

rs1490765568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:114127790 (GRCh38)
1:114670412 (GRCh37)
Canonical SPDI:: NC_000001.11:114127789:T:C,NC_000001.11:114127789:T:G
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.114127790T>C, NC_000001.11:g.114127790T>G, NC_000001.10:g.114670412T>C, NC_000001.10:g.114670412T>G, NG_050730.1:g.31061A>G, NG_050730.1:g.31061A>C

Select item 149072388618.

rs1490723886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:114109775 (GRCh38)
1:114652397 (GRCh37)
Canonical SPDI:: NC_000001.11:114109774:C:T
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.114109775C>T, NC_000001.10:g.114652397C>T, NG_050730.1:g.49076G>A

Select item 149070051519.

rs1490700515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114145460 (GRCh38)
1:114688082 (GRCh37)
Canonical SPDI:: NC_000001.11:114145459:T:C
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.114145460T>C, NC_000001.10:g.114688082T>C, NG_050730.1:g.13391A>G

Select item 149067846320.

rs1490678463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114143137 (GRCh38)
1:114685759 (GRCh37)
Canonical SPDI:: NC_000001.11:114143136:T:C
Gene:: SYT6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.114143137T>C, NC_000001.10:g.114685759T>C, NG_050730.1:g.15714A>G