SNP Links for Gene (Select 84958) - SNP

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Select item 14914829411.

rs1491482941 has merged into rs35304590 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:27344853 (GRCh38)
1:27671344 (GRCh37)
Canonical SPDI:: NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:27344842:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3158/12 (GENOME_DK)
HGVS:: NC_000001.11:g.27344853_27344868del, NC_000001.11:g.27344856_27344868del, NC_000001.11:g.27344857_27344868del, NC_000001.11:g.27344858_27344868del, NC_000001.11:g.27344859_27344868del, NC_000001.11:g.27344860_27344868del, NC_000001.11:g.27344861_27344868del, NC_000001.11:g.27344862_27344868del, NC_000001.11:g.27344863_27344868del, NC_000001.11:g.27344865_27344868del, NC_000001.11:g.27344866_27344868del, NC_000001.11:g.27344867_27344868del, NC_000001.11:g.27344868del, NC_000001.11:g.27344868dup, NC_000001.11:g.27344867_27344868dup, NC_000001.11:g.27344866_27344868dup, NC_000001.11:g.27344865_27344868dup, NC_000001.11:g.27344864_27344868dup, NC_000001.11:g.27344863_27344868dup, NC_000001.11:g.27344860_27344868dup, NC_000001.11:g.27344859_27344868dup, NC_000001.10:g.27671344_27671359del, NC_000001.10:g.27671347_27671359del, NC_000001.10:g.27671348_27671359del, NC_000001.10:g.27671349_27671359del, NC_000001.10:g.27671350_27671359del, NC_000001.10:g.27671351_27671359del, NC_000001.10:g.27671352_27671359del, NC_000001.10:g.27671353_27671359del, NC_000001.10:g.27671354_27671359del, NC_000001.10:g.27671356_27671359del, NC_000001.10:g.27671357_27671359del, NC_000001.10:g.27671358_27671359del, NC_000001.10:g.27671359del, NC_000001.10:g.27671359dup, NC_000001.10:g.27671358_27671359dup, NC_000001.10:g.27671357_27671359dup, NC_000001.10:g.27671356_27671359dup, NC_000001.10:g.27671355_27671359dup, NC_000001.10:g.27671354_27671359dup, NC_000001.10:g.27671351_27671359dup, NC_000001.10:g.27671350_27671359dup

Select item 14913990192.

rs1491399019 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:27343589 (GRCh38)
1:27670081 (GRCh37)
Canonical SPDI:: NC_000001.11:27343589:GTGTGTGTGTGTACGTGTGTGTGTGT:GTGTGTGTGTGTACGTGTGTGTGTGTACGTGTGTGTGTGT
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGTGTGTACGTGTGTGTGTGTACGTGTGTGTGTGT=0./0 (ALFA)
GTGTGTGTGTGTAC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27343602_27343615dup, NC_000001.10:g.27670093_27670106dup

Select item 14913244193.

rs1491324419 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:27344842 (GRCh38)
1:27671333 (GRCh37)
Canonical SPDI:: NC_000001.11:27344841:CA:
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.27344842_27344843del, NC_000001.10:g.27671333_27671334del

Select item 14909516704.

rs1490951670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:27348419 (GRCh38)
1:27674910 (GRCh37)
Canonical SPDI:: NC_000001.11:27348418:T:A
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.27348419T>A, NC_000001.10:g.27674910T>A

Select item 14907931815.

rs1490793181 has merged into rs146612829 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:27343612 (GRCh38)
1:27670103 (GRCh37)
Canonical SPDI:: NC_000001.11:27343603:GTGTGTGTGTGTGTGT:GTGTGTGT,NC_000001.11:27343603:GTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000001.11:27343603:GTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000001.11:27343603:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000001.11:27343603:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:27343603:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.27343604GT[4], NC_000001.11:g.27343604GT[5], NC_000001.11:g.27343604GT[6], NC_000001.11:g.27343604GT[7], NC_000001.11:g.27343604GT[9], NC_000001.11:g.27343604GT[10], NC_000001.10:g.27670095GT[4], NC_000001.10:g.27670095GT[5], NC_000001.10:g.27670095GT[6], NC_000001.10:g.27670095GT[7], NC_000001.10:g.27670095GT[9], NC_000001.10:g.27670095GT[10]

Select item 14902427996.

rs1490242799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27353077 (GRCh38)
1:27679568 (GRCh37)
Canonical SPDI:: NC_000001.11:27353076:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.27353077C>T, NC_000001.10:g.27679568C>T

Select item 14902013637.

rs1490201363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27349096 (GRCh38)
1:27675587 (GRCh37)
Canonical SPDI:: NC_000001.11:27349095:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.27349096C>T, NC_000001.10:g.27675587C>T, XM_005246022.4:c.572C>T, XM_005246022.3:c.572C>T, XM_005246022.2:c.572C>T, XM_005246022.1:c.572C>T, NM_001193308.2:c.476C>T, NM_001193308.1:c.476C>T, XM_047432563.1:c.572C>T, XP_005246079.1:p.Ser191Leu, NP_001180237.1:p.Ser159Leu, XP_047288519.1:p.Ser191Leu

Select item 14900083678.

rs1490008367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27345475 (GRCh38)
1:27671966 (GRCh37)
Canonical SPDI:: NC_000001.11:27345474:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000024/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27345475C>T, NC_000001.10:g.27671966C>T, XM_005246022.4:c.237C>T, XM_005246022.3:c.237C>T, XM_005246022.2:c.237C>T, XM_005246022.1:c.237C>T, NM_032872.3:c.141C>T, NM_032872.2:c.141C>T, XM_006710990.2:c.237C>T, XM_006710990.1:c.237C>T, NM_001193308.2:c.141C>T, NM_001193308.1:c.141C>T, XM_047432563.1:c.237C>T

Select item 14899754729.

rs1489975472 has merged into rs1384873454 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:27344115 (GRCh38)
1:27670606 (GRCh37)
Canonical SPDI:: NC_000001.11:27344114:TTTTTTTT:TTTTTTT,NC_000001.11:27344114:TTTTTTTT:TTTTTTTTT
Gene:: SYTL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00072/12 (TOMMO)
-=0.00164/3 (Korea1K)
HGVS:: NC_000001.11:g.27344122del, NC_000001.11:g.27344122dup, NC_000001.10:g.27670613del, NC_000001.10:g.27670613dup

Select item 148979242410.

rs1489792424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27349597 (GRCh38)
1:27676088 (GRCh37)
Canonical SPDI:: NC_000001.11:27349596:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27349597G>A, NC_000001.10:g.27676088G>A

Select item 148974121911.

rs1489741219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27348090 (GRCh38)
1:27674581 (GRCh37)
Canonical SPDI:: NC_000001.11:27348089:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.27348090C>T, NC_000001.10:g.27674581C>T

Select item 148941034512.

rs1489410345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27351353 (GRCh38)
1:27677844 (GRCh37)
Canonical SPDI:: NC_000001.11:27351352:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.27351353G>A, NC_000001.10:g.27677844G>A

Select item 148939798913.

rs1489397989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27349461 (GRCh38)
1:27675952 (GRCh37)
Canonical SPDI:: NC_000001.11:27349460:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.27349461C>T, NC_000001.10:g.27675952C>T, XM_005246022.4:c.692C>T, XM_005246022.3:c.692C>T, XM_005246022.2:c.692C>T, XM_005246022.1:c.692C>T, NM_032872.3:c.560C>T, NM_032872.2:c.560C>T, XM_006710990.2:c.656C>T, XM_006710990.1:c.656C>T, NM_001193308.2:c.596C>T, NM_001193308.1:c.596C>T, XM_047432563.1:c.692C>T, XM_047432574.1:c.136C>T, XM_047432582.1:c.136C>T, XP_005246079.1:p.Ser231Leu, NP_116261.1:p.Ser187Leu, XP_006711053.1:p.Ser219Leu, NP_001180237.1:p.Ser199Leu, XP_047288519.1:p.Ser231Leu, XP_047288530.1:p.Arg46Trp, XP_047288538.1:p.Arg46Trp

Select item 148926051014.

rs1489260510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27347567 (GRCh38)
1:27674058 (GRCh37)
Canonical SPDI:: NC_000001.11:27347566:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27347567G>A, NC_000001.10:g.27674058G>A, XM_005246022.4:c.434G>A, XM_005246022.3:c.434G>A, XM_005246022.2:c.434G>A, XM_005246022.1:c.434G>A, NM_032872.3:c.338G>A, NM_032872.2:c.338G>A, XM_006710990.2:c.434G>A, XM_006710990.1:c.434G>A, NM_001193308.2:c.338G>A, NM_001193308.1:c.338G>A, XM_047432563.1:c.434G>A, XP_005246079.1:p.Arg145Lys, NP_116261.1:p.Arg113Lys, XP_006711053.1:p.Arg145Lys, NP_001180237.1:p.Arg113Lys, XP_047288519.1:p.Arg145Lys

Select item 148914944615.

rs1489149446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:27341295 (GRCh38)
1:27667786 (GRCh37)
Canonical SPDI:: NC_000001.11:27341294:G:A,NC_000001.11:27341294:G:T
Gene:: SYTL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
A=0.000019/5 (TOPMED)
T=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.27341295G>A, NC_000001.11:g.27341295G>T, NC_000001.10:g.27667786G>A, NC_000001.10:g.27667786G>T

Select item 148870132216.

rs1488701322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:27348263 (GRCh38)
1:27674754 (GRCh37)
Canonical SPDI:: NC_000001.11:27348262:G:C
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27348263G>C, NC_000001.10:g.27674754G>C

Select item 148822912617.

rs1488229126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:27347935 (GRCh38)
1:27674426 (GRCh37)
Canonical SPDI:: NC_000001.11:27347934:T:A
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27347935T>A, NC_000001.10:g.27674426T>A

Select item 148801151018.

rs1488011510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27342647 (GRCh38)
1:27669138 (GRCh37)
Canonical SPDI:: NC_000001.11:27342646:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27342647C>T, NC_000001.10:g.27669138C>T

Select item 148785280719.

rs1487852807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27345464 (GRCh38)
1:27671955 (GRCh37)
Canonical SPDI:: NC_000001.11:27345463:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27345464G>A, NC_000001.10:g.27671955G>A, XM_005246022.4:c.226G>A, XM_005246022.3:c.226G>A, XM_005246022.2:c.226G>A, XM_005246022.1:c.226G>A, NM_032872.3:c.130G>A, NM_032872.2:c.130G>A, XM_006710990.2:c.226G>A, XM_006710990.1:c.226G>A, NM_001193308.2:c.130G>A, NM_001193308.1:c.130G>A, XM_047432563.1:c.226G>A, XP_005246079.1:p.Ala76Thr, NP_116261.1:p.Ala44Thr, XP_006711053.1:p.Ala76Thr, NP_001180237.1:p.Ala44Thr, XP_047288519.1:p.Ala76Thr

Select item 148776343220.

rs1487763432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27346164 (GRCh38)
1:27672655 (GRCh37)
Canonical SPDI:: NC_000001.11:27346163:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.27346164C>T, NC_000001.10:g.27672655C>T

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