SNP Links for Gene (Select 106660613) - SNP

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Select item 14915884411.

rs1491588441 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:57926915 (GRCh38)
6:58253193 (GRCh37)
Canonical SPDI:: NC_000006.12:57926913:ACA:A
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00034/4 (ALFA)
HGVS:: NC_000006.12:g.57926915_57926916del, NC_000006.11:g.58253193_58253194del

Select item 14915086912.

rs1491508691 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATGGGATT [Show Flanks]
Chromosome:: 6:57924460 (GRCh38)
6:58250739 (GRCh37)
Canonical SPDI:: NC_000006.12:57924460:TAATGGGATT:TAATGGGATTAATGGGATT
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAATGGGATTAATGGGATT=0.000111/1 (ALFA)
TAATGGGAT=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.57924462_57924470dup, NC_000006.11:g.58250740_58250748dup, NM_206908.2:c.*22_*30dup, NR_003660.2:n.679_687dup, NR_132999.1:n.439_447dup, NR_132997.1:n.938_946dup, NM_206908.1:c.*22_*30dup, NM_206912.1:c.*22_*30dup, NR_132998.1:n.606_614dup, NR_133000.1:n.439_447dup

Select item 14914983413.

rs1491498341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 6:57961787 (GRCh38)
6:58288066 (GRCh37)
Canonical SPDI:: NC_000006.12:57961787:TTT:TTTGTTT
Gene:: LOC101927293 (Varview), LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTGTTT=0.00007/1 (ALFA)
TTTG=0.00003/2 (GnomAD)
HGVS:: NC_000006.12:g.57961790_57961791insGTTT, NC_000006.11:g.58288068_58288069insGTTT, XR_242044.6:n.241_242insGTTT, XR_002956353.2:n.254_255insGTTT, XR_007059624.1:n.241_242insGTTT

Select item 14914964304.

rs1491496430 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTTG [Show Flanks]
Chromosome:: 6:57941754 (GRCh38)
6:58268033 (GRCh37)
Canonical SPDI:: NC_000006.12:57941754::TA,NC_000006.12:57941754::TTTG
Gene:: LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTG=0./0 (ALFA)
TA=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.57941754_57941755insTA, NC_000006.12:g.57941754_57941755insTTTG, NC_000006.11:g.58268032_58268033insTA, NC_000006.11:g.58268032_58268033insTTTG

Select item 14914388165.

rs1491438816 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:57947807 (GRCh38)
6:58274085 (GRCh37)
Canonical SPDI:: NC_000006.12:57947804:AAAA:AA
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000006.12:g.57947807_57947808del, NC_000006.11:g.58274085_58274086del

Select item 14914330946.

rs1491433094 [Homo sapiens]

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

Select item 14914231507.

rs1491423150 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:57955177 (GRCh38)
6:58281455 (GRCh37)
Canonical SPDI:: NC_000006.12:57955176:AT:
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000059/6 (GnomAD)
-=0.001097/18 (TOMMO)
HGVS:: NC_000006.12:g.57955177_57955178del, NC_000006.11:g.58281455_58281456del

Select item 14914022328.

rs1491402232 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:57924461 (GRCh38)
6:58250739 (GRCh37)
Canonical SPDI:: NC_000006.12:57924459:ATA:A
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000082/14 (GnomAD_exomes)
-=0.000234/62 (TOPMED)
-=0.000235/33 (GnomAD)
HGVS:: NC_000006.12:g.57924461_57924462del, NC_000006.11:g.58250739_58250740del, NM_206908.2:c.*30_*31del, NR_003660.2:n.687_688del, NR_132999.1:n.447_448del, NR_132997.1:n.946_947del, NM_206908.1:c.*30_*31del, NM_206912.1:c.*30_*31del, NR_132998.1:n.614_615del, NR_133000.1:n.447_448del

Select item 14913965629.

rs1491396562 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:57941755 (GRCh38)
6:58268033 (GRCh37)
Canonical SPDI:: NC_000006.12:57941753:TGT:T
Gene:: LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00035/5 (TOMMO)
-=0.00057/35 (GnomAD)
HGVS:: NC_000006.12:g.57941755_57941756del, NC_000006.11:g.58268033_58268034del

Select item 149138041410.

rs1491380414 has merged into rs70993115 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 6:57961792 (GRCh38)
6:58288070 (GRCh37)
Canonical SPDI:: NC_000006.12:57961786:TTTTTTTT:TTTTT,NC_000006.12:57961786:TTTTTTTT:TTTTTT,NC_000006.12:57961786:TTTTTTTT:TTTTTTT,NC_000006.12:57961786:TTTTTTTT:TTTTTTTTT,NC_000006.12:57961786:TTTTTTTT:TTTTTTTTTT,NC_000006.12:57961786:TTTTTTTT:TTTTTTTTTTT,NC_000006.12:57961786:TTTTTTTT:TTTTTTTTTTTTT
Gene:: LOC101927293 (Varview), LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.032548/163 (1000Genomes)
-=0.247149/65418 (TOPMED)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000006.12:g.57961792_57961794del, NC_000006.12:g.57961793_57961794del, NC_000006.12:g.57961794del, NC_000006.12:g.57961794dup, NC_000006.12:g.57961793_57961794dup, NC_000006.12:g.57961792_57961794dup, NC_000006.12:g.57961790_57961794dup, NC_000006.11:g.58288070_58288072del, NC_000006.11:g.58288071_58288072del, NC_000006.11:g.58288072del, NC_000006.11:g.58288072dup, NC_000006.11:g.58288071_58288072dup, NC_000006.11:g.58288070_58288072dup, NC_000006.11:g.58288068_58288072dup, XR_242044.6:n.243_245del, XR_242044.6:n.244_245del, XR_242044.6:n.245del, XR_242044.6:n.245dup, XR_242044.6:n.244_245dup, XR_242044.6:n.243_245dup, XR_242044.6:n.241_245dup, XR_002956353.2:n.256_258del, XR_002956353.2:n.257_258del, XR_002956353.2:n.258del, XR_002956353.2:n.258dup, XR_002956353.2:n.257_258dup, XR_002956353.2:n.256_258dup, XR_002956353.2:n.254_258dup, XR_007059624.1:n.243_245del, XR_007059624.1:n.244_245del, XR_007059624.1:n.245del, XR_007059624.1:n.245dup, XR_007059624.1:n.244_245dup, XR_007059624.1:n.243_245dup, XR_007059624.1:n.241_245dup

Select item 149135905211.

rs1491359052 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:57922064 (GRCh38)
6:58248342 (GRCh37)
Canonical SPDI:: NC_000006.12:57922063:TA:
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.57922064_57922065del, NC_000006.11:g.58248342_58248343del

Select item 149134357812.

rs1491343578 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,TA [Show Flanks]
Chromosome:: 6:57922064 (GRCh38)
6:58248343 (GRCh37)
Canonical SPDI:: NC_000006.12:57922064::G,NC_000006.12:57922064::TA
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000006.12:g.57922064_57922065insG, NC_000006.12:g.57922064_57922065insTA, NC_000006.11:g.58248342_58248343insG, NC_000006.11:g.58248342_58248343insTA

Select item 149125923613.

rs1491259236 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:57926914 (GRCh38)
6:58253193 (GRCh37)
Canonical SPDI:: NC_000006.12:57926914:C:CC
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.57926915dup, NC_000006.11:g.58253193dup

Select item 149113371514.

rs1491133715 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 6:57926916 (GRCh38)
6:58253195 (GRCh37)
Canonical SPDI:: NC_000006.12:57926916:AA:AACAA
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AACAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.57926918_57926919insCAA, NC_000006.11:g.58253196_58253197insCAA

Select item 149112538815.

rs1491125388 has merged into rs1012555851 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:57930410 (GRCh38)
6:58256688 (GRCh37)
Canonical SPDI:: NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57930400:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTT=0.0034/2 (NorthernSweden)
HGVS:: NC_000006.12:g.57930410_57930426del, NC_000006.12:g.57930411_57930426del, NC_000006.12:g.57930412_57930426del, NC_000006.12:g.57930413_57930426del, NC_000006.12:g.57930414_57930426del, NC_000006.12:g.57930415_57930426del, NC_000006.12:g.57930416_57930426del, NC_000006.12:g.57930417_57930426del, NC_000006.12:g.57930418_57930426del, NC_000006.12:g.57930419_57930426del, NC_000006.12:g.57930420_57930426del, NC_000006.12:g.57930421_57930426del, NC_000006.12:g.57930422_57930426del, NC_000006.12:g.57930423_57930426del, NC_000006.12:g.57930424_57930426del, NC_000006.12:g.57930425_57930426del, NC_000006.12:g.57930426del, NC_000006.12:g.57930426dup, NC_000006.12:g.57930425_57930426dup, NC_000006.12:g.57930424_57930426dup, NC_000006.12:g.57930423_57930426dup, NC_000006.12:g.57930422_57930426dup, NC_000006.12:g.57930420_57930426dup, NC_000006.12:g.57930418_57930426dup, NC_000006.12:g.57930409_57930426dup, NC_000006.11:g.58256688_58256704del, NC_000006.11:g.58256689_58256704del, NC_000006.11:g.58256690_58256704del, NC_000006.11:g.58256691_58256704del, NC_000006.11:g.58256692_58256704del, NC_000006.11:g.58256693_58256704del, NC_000006.11:g.58256694_58256704del, NC_000006.11:g.58256695_58256704del, NC_000006.11:g.58256696_58256704del, NC_000006.11:g.58256697_58256704del, NC_000006.11:g.58256698_58256704del, NC_000006.11:g.58256699_58256704del, NC_000006.11:g.58256700_58256704del, NC_000006.11:g.58256701_58256704del, NC_000006.11:g.58256702_58256704del, NC_000006.11:g.58256703_58256704del, NC_000006.11:g.58256704del, NC_000006.11:g.58256704dup, NC_000006.11:g.58256703_58256704dup, NC_000006.11:g.58256702_58256704dup, NC_000006.11:g.58256701_58256704dup, NC_000006.11:g.58256700_58256704dup, NC_000006.11:g.58256698_58256704dup, NC_000006.11:g.58256696_58256704dup, NC_000006.11:g.58256687_58256704dup

Select item 149109403816.

rs1491094038 has merged into rs61449721 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:57955189 (GRCh38)
6:58281467 (GRCh37)
Canonical SPDI:: NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.57955189_57955199del, NC_000006.12:g.57955190_57955199del, NC_000006.12:g.57955191_57955199del, NC_000006.12:g.57955192_57955199del, NC_000006.12:g.57955193_57955199del, NC_000006.12:g.57955194_57955199del, NC_000006.12:g.57955195_57955199del, NC_000006.12:g.57955196_57955199del, NC_000006.12:g.57955197_57955199del, NC_000006.12:g.57955198_57955199del, NC_000006.12:g.57955199del, NC_000006.12:g.57955199dup, NC_000006.12:g.57955198_57955199dup, NC_000006.12:g.57955196_57955199dup, NC_000006.11:g.58281467_58281477del, NC_000006.11:g.58281468_58281477del, NC_000006.11:g.58281469_58281477del, NC_000006.11:g.58281470_58281477del, NC_000006.11:g.58281471_58281477del, NC_000006.11:g.58281472_58281477del, NC_000006.11:g.58281473_58281477del, NC_000006.11:g.58281474_58281477del, NC_000006.11:g.58281475_58281477del, NC_000006.11:g.58281476_58281477del, NC_000006.11:g.58281477del, NC_000006.11:g.58281477dup, NC_000006.11:g.58281476_58281477dup, NC_000006.11:g.58281474_58281477dup

Select item 149101440517.

rs1491014405 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:57961786 (GRCh38)
6:58288064 (GRCh37)
Canonical SPDI:: NC_000006.12:57961784:TGT:T
Gene:: LOC101927293 (Varview), LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000337/4 (ALFA)
-=0.000574/152 (TOPMED)
-=0.000578/69 (GnomAD)
HGVS:: NC_000006.12:g.57961786_57961787del, NC_000006.11:g.58288064_58288065del, XR_242044.6:n.237_238del, XR_002956353.2:n.250_251del, XR_007059624.1:n.237_238del

Select item 149090673618.

rs1490906736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:57955839 (GRCh38)
6:58282117 (GRCh37)
Canonical SPDI:: NC_000006.12:57955838:G:A,NC_000006.12:57955838:G:C
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.57955839G>A, NC_000006.12:g.57955839G>C, NC_000006.11:g.58282117G>A, NC_000006.11:g.58282117G>C

Select item 149090577519.

rs1490905775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:57945434 (GRCh38)
6:58271712 (GRCh37)
Canonical SPDI:: NC_000006.12:57945433:G:A,NC_000006.12:57945433:G:C
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00011/2 (ALFA)
HGVS:: NC_000006.12:g.57945434G>A, NC_000006.12:g.57945434G>C, NC_000006.11:g.58271712G>A, NC_000006.11:g.58271712G>C

Select item 149086684220.

rs1490866842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:57921600 (GRCh38)
6:58247878 (GRCh37)
Canonical SPDI:: NC_000006.12:57921599:C:T
Gene:: GUSBP4 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.57921600C>T, NC_000006.11:g.58247878C>T

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