SNP Links for Gene (Select 140688) - SNP

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Select item 14915880171.

rs1491588017 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,CTTTCTT [Show Flanks]
Chromosome:: 20:32488826 (GRCh38)
20:31076630 (GRCh37)
Canonical SPDI:: NC_000020.11:32488826:TT:TTCTT,NC_000020.11:32488826:TT:TTCTTTCTT
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTCTTTC=0.00008/1 (GnomAD)
HGVS:: NC_000020.11:g.32488828_32488829insCTT, NC_000020.11:g.32488827_32488828TTCT[2]T[1], NC_000020.10:g.31076631_31076632insCTT, NC_000020.10:g.31076630_31076631TTCT[2]T[1]

Select item 14915498742.

rs1491549874 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTCTTTCTTTC [Show Flanks]
Chromosome:: 20:32488874 (GRCh38)
20:31076678 (GRCh37)
Canonical SPDI:: NC_000020.11:32488874:CTTTCTTTCTTTC:CTTTCTTTCTTTCCTTTCTTTCTTTC
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTCTTTCCTTTCTTTCTTTC=0./0 (ALFA)
HGVS:: NC_000020.11:g.32488875_32488887dup, NC_000020.10:g.31076678_31076690dup

Select item 14915456483.

rs1491545648 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,GTC [Show Flanks]
Chromosome:: 20:32488880 (GRCh38)
20:31076684 (GRCh37)
Canonical SPDI:: NC_000020.11:32488880::C,NC_000020.11:32488880::GTC
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTC=0./0 (ALFA)
HGVS:: NC_000020.11:g.32488880_32488881insC, NC_000020.11:g.32488880_32488881insGTC, NC_000020.10:g.31076683_31076684insC, NC_000020.10:g.31076683_31076684insGTC

Select item 14915311224.

rs1491531122 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:32536058 (GRCh38)
20:31123861 (GRCh37)
Canonical SPDI:: NC_000020.11:32536057:CT:
Gene:: NOL4L (Varview), LOC105372592 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.32536058_32536059del, NC_000020.10:g.31123861_31123862del

Select item 14915249445.

rs1491524944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:32488866 (GRCh38)
20:31076670 (GRCh37)
Canonical SPDI:: NC_000020.11:32488866:C:CC
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000020.11:g.32488867dup, NC_000020.10:g.31076670dup

Select item 14915166156.

rs1491516615 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:32488878 (GRCh38)
20:31076682 (GRCh37)
Canonical SPDI:: NC_000020.11:32488878:C:CC
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000020.11:g.32488879dup, NC_000020.10:g.31076682dup

Select item 14915007837.

rs1491500783 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:32488846 (GRCh38)
20:31076650 (GRCh37)
Canonical SPDI:: NC_000020.11:32488846:C:CC
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000020.11:g.32488847dup, NC_000020.10:g.31076650dup

Select item 14914984338.

rs1491498433 has merged into rs372938511 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 20:32581900 (GRCh38)
20:31169702 (GRCh37)
Canonical SPDI:: NC_000020.11:32581885:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000020.11:32581885:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000020.11:32581885:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000020.11:32581885:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:32581885:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:32581885:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NOL4L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.00006/16 (TOPMED)
GT=0.002029/34 (TOMMO)
GT=0.043333/26 (NorthernSweden)
GT=0.089058/446 (1000Genomes)
HGVS:: NC_000020.11:g.32581886GT[7], NC_000020.11:g.32581886GT[8], NC_000020.11:g.32581886GT[9], NC_000020.11:g.32581886GT[11], NC_000020.11:g.32581886GT[12], NC_000020.11:g.32581886GT[13], NC_000020.10:g.31169688GT[7], NC_000020.10:g.31169688GT[8], NC_000020.10:g.31169688GT[9], NC_000020.10:g.31169688GT[11], NC_000020.10:g.31169688GT[12], NC_000020.10:g.31169688GT[13]

Select item 14914982139.

rs1491498213 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAA,CAAAAAA [Show Flanks]
Chromosome:: 20:32485058 (GRCh38)
20:31072862 (GRCh37)
Canonical SPDI:: NC_000020.11:32485058:A:ACAAAA,NC_000020.11:32485058:A:ACAAAAAA
Gene:: NOL4L (Varview), LOC124904886 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAAAA=0./0 (ALFA)
ACAAA=0.000004/1 (TOPMED)
ACAAAAA=0.000059/1 (GnomAD)
HGVS:: NC_000020.11:g.32485059_32485060insCAAAA, NC_000020.11:g.32485059_32485060insCAAAAAA, NC_000020.10:g.31072862_31072863insCAAAA, NC_000020.10:g.31072862_31072863insCAAAAAA

Select item 149149386810.

rs1491493868 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>-,CTTCTT [Show Flanks]
Chromosome:: 20:32488859 (GRCh38)
20:31076662 (GRCh37)
Canonical SPDI:: NC_000020.11:32488856:TTCTT:TT,NC_000020.11:32488856:TTCTT:TTCTTCTT
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTTCTT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000020.11:g.32488859_32488861del, NC_000020.11:g.32488859_32488861dup, NC_000020.10:g.31076662_31076664del, NC_000020.10:g.31076662_31076664dup

Select item 149146460011.

rs1491464600 has merged into rs3078261 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:32573048 (GRCh38)
20:31160850 (GRCh37)
Canonical SPDI:: NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:32573039:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: NOL4L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000020.11:g.32573048_32573055del, NC_000020.11:g.32573051_32573055del, NC_000020.11:g.32573052_32573055del, NC_000020.11:g.32573053_32573055del, NC_000020.11:g.32573054_32573055del, NC_000020.11:g.32573055del, NC_000020.11:g.32573055dup, NC_000020.11:g.32573054_32573055dup, NC_000020.11:g.32573053_32573055dup, NC_000020.11:g.32573051_32573055dup, NC_000020.10:g.31160850_31160857del, NC_000020.10:g.31160853_31160857del, NC_000020.10:g.31160854_31160857del, NC_000020.10:g.31160855_31160857del, NC_000020.10:g.31160856_31160857del, NC_000020.10:g.31160857del, NC_000020.10:g.31160857dup, NC_000020.10:g.31160856_31160857dup, NC_000020.10:g.31160855_31160857dup, NC_000020.10:g.31160853_31160857dup

Select item 149145511812.

rs1491455118 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCTTTCCTTC [Show Flanks]
Chromosome:: 20:32488854 (GRCh38)
20:31076658 (GRCh37)
Canonical SPDI:: NC_000020.11:32488854::TCTTTCCTTC
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTTCCTTC=0./0 (ALFA)
HGVS:: NC_000020.11:g.32488854_32488855insTCTTTCCTTC, NC_000020.10:g.31076657_31076658insTCTTTCCTTC

Select item 149145446213.

rs1491454462 has merged into rs11327665 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:32545956 (GRCh38)
20:31133758 (GRCh37)
Canonical SPDI:: NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:32545950:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NOL4L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.02508/15 (NorthernSweden)
-=0.2/8 (GENOME_DK)
-=0.32548/1630 (1000Genomes)
HGVS:: NC_000020.11:g.32545956_32545965del, NC_000020.11:g.32545957_32545965del, NC_000020.11:g.32545959_32545965del, NC_000020.11:g.32545960_32545965del, NC_000020.11:g.32545962_32545965del, NC_000020.11:g.32545963_32545965del, NC_000020.11:g.32545964_32545965del, NC_000020.11:g.32545965del, NC_000020.11:g.32545965dup, NC_000020.11:g.32545964_32545965dup, NC_000020.11:g.32545963_32545965dup, NC_000020.11:g.32545962_32545965dup, NC_000020.11:g.32545957_32545965dup, NC_000020.10:g.31133758_31133767del, NC_000020.10:g.31133759_31133767del, NC_000020.10:g.31133761_31133767del, NC_000020.10:g.31133762_31133767del, NC_000020.10:g.31133764_31133767del, NC_000020.10:g.31133765_31133767del, NC_000020.10:g.31133766_31133767del, NC_000020.10:g.31133767del, NC_000020.10:g.31133767dup, NC_000020.10:g.31133766_31133767dup, NC_000020.10:g.31133765_31133767dup, NC_000020.10:g.31133764_31133767dup, NC_000020.10:g.31133759_31133767dup

Select item 149145294314.

rs1491452943 has merged into rs1315042922 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 20:32536810 (GRCh38)
20:31124613 (GRCh37)
Canonical SPDI:: NC_000020.11:32536799:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000020.11:32536799:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000020.11:32536799:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000020.11:32536799:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000020.11:32536799:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000020.11:32536799:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000020.11:32536799:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: NOL4L (Varview), LOC105372592 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000020.11:g.32536810_32536812del, NC_000020.11:g.32536811_32536812del, NC_000020.11:g.32536812del, NC_000020.11:g.32536812dup, NC_000020.11:g.32536811_32536812dup, NC_000020.11:g.32536810_32536812dup, NC_000020.11:g.32536809_32536812dup, NC_000020.10:g.31124613_31124615del, NC_000020.10:g.31124614_31124615del, NC_000020.10:g.31124615del, NC_000020.10:g.31124615dup, NC_000020.10:g.31124614_31124615dup, NC_000020.10:g.31124613_31124615dup, NC_000020.10:g.31124612_31124615dup

Select item 149145022215.

rs1491450222 has merged into rs11475052 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 20:32488881 (GRCh38)
20:31076684 (GRCh37)
Canonical SPDI:: NC_000020.11:32488879:TTT:T,NC_000020.11:32488879:TTT:TT,NC_000020.11:32488879:TTT:TTTT,NC_000020.11:32488879:TTT:TTTTT
Gene:: NOL4L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.027/48 (Korea1K)
-=0.03086/504 (TOMMO)
-=0.0658/244 (TWINSUK)
-=0.06876/265 (ALSPAC)
HGVS:: NC_000020.11:g.32488881_32488882del, NC_000020.11:g.32488882del, NC_000020.11:g.32488882dup, NC_000020.11:g.32488881_32488882dup, NC_000020.10:g.31076684_31076685del, NC_000020.10:g.31076685del, NC_000020.10:g.31076685dup, NC_000020.10:g.31076684_31076685dup

Select item 149142963616.

rs1491429636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG [Show Flanks]
Chromosome:: 20:32536800 (GRCh38)
20:31124604 (GRCh37)
Canonical SPDI:: NC_000020.11:32536800:GG:GGCGG
Gene:: NOL4L (Varview), LOC105372592 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGCGG=0.00017/2 (ALFA)
GGC=0.00067/10 (GnomAD)
HGVS:: NC_000020.11:g.32536802_32536803insCGG, NC_000020.10:g.31124605_31124606insCGG

Select item 149141728017.

rs1491417280 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:32485058 (GRCh38)
20:31072861 (GRCh37)
Canonical SPDI:: NC_000020.11:32485057:CA:
Gene:: NOL4L (Varview), LOC124904886 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00046/8 (GnomAD)
HGVS:: NC_000020.11:g.32485058_32485059del, NC_000020.10:g.31072861_31072862del

Select item 149141256518.

rs1491412565 has merged into rs1444036349 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 20:32488847 (GRCh38)
20:31076650 (GRCh37)
Canonical SPDI:: NC_000020.11:32488845:TCT:T,NC_000020.11:32488845:TCT:TCTCT
Gene:: NOL4L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
-=0.000025/2 (GnomAD)
HGVS:: NC_000020.11:g.32488847_32488848del, NC_000020.11:g.32488847_32488848dup, NC_000020.10:g.31076650_31076651del, NC_000020.10:g.31076650_31076651dup

Select item 149140502519.

rs1491405025 has merged into rs1295381617 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 20:32488857 (GRCh38)
20:31076660 (GRCh37)
Canonical SPDI:: NC_000020.11:32488855:TTT:T,NC_000020.11:32488855:TTT:TT,NC_000020.11:32488855:TTT:TTTT,NC_000020.11:32488855:TTT:TTTTT
Gene:: NOL4L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00002/1 (GnomAD)
T=0.0001/2 (TOMMO)
HGVS:: NC_000020.11:g.32488857_32488858del, NC_000020.11:g.32488858del, NC_000020.11:g.32488858dup, NC_000020.11:g.32488857_32488858dup, NC_000020.10:g.31076660_31076661del, NC_000020.10:g.31076661del, NC_000020.10:g.31076661dup, NC_000020.10:g.31076660_31076661dup

Select item 149139484220.

rs1491394842 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:32494253 (GRCh38)
20:31082056 (GRCh37)
Canonical SPDI:: NC_000020.11:32494252:GA:
Gene:: NOL4L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01332/158 (ALFA)
-=0.00004/1 (GnomAD)
-=0.00028/6 (TOMMO)
HGVS:: NC_000020.11:g.32494253_32494254del, NC_000020.10:g.31082056_31082057del

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