SNP Links for Gene (Select 106660612) - SNP

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Select item 14914983411.

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 14914388162.

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 14914231503.

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 14913804144.

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 14910940385.

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 14910144056.

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 14909067367.

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 14909057758.

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 14907838469.

rs1490783846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:57962246 (GRCh38)
6:58288524 (GRCh37)
Canonical SPDI:: NC_000006.12:57962245:C:A
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:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000006.12:g.57962246C>A, NC_000006.11:g.58288524C>A, XR_242044.6:n.697C>A, XR_242044.5:n.315C>A, XR_242044.4:n.104C>A, XR_242044.3:n.38C>A, XR_242044.2:n.34C>A, XR_002956353.2:n.710C>A, XR_002956353.1:n.66C>A, XR_007059624.1:n.697C>A

Select item 149077770910.

rs1490777709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:57947496 (GRCh38)
6:58273774 (GRCh37)
Canonical SPDI:: NC_000006.12:57947495:C:T
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.57947496C>T, NC_000006.11:g.58273774C>T

Select item 149060761211.

rs1490607612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:57946561 (GRCh38)
6:58272839 (GRCh37)
Canonical SPDI:: NC_000006.12:57946560:C:G
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000216/4 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.57946561C>G, NC_000006.11:g.58272839C>G, NR_132994.1:n.1750G>C, NR_125727.1:n.1249G>C, NR_132995.1:n.1204G>C, NR_125728.1:n.1096G>C, NR_125729.1:n.1051G>C, NR_132996.1:n.1023G>C, NM_206910.1:c.*1001G>C, NM_206911.1:c.*848G>C

Select item 149041060512.

rs1490410605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:57962214 (GRCh38)
6:58288492 (GRCh37)
Canonical SPDI:: NC_000006.12:57962213:T:C
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
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.57962214T>C, NC_000006.11:g.58288492T>C, XR_242044.6:n.665T>C, XR_242044.5:n.283T>C, XR_242044.4:n.72T>C, XR_242044.3:n.6T>C, XR_242044.2:n.2T>C, XR_002956353.2:n.678T>C, XR_002956353.1:n.34T>C, XR_007059624.1:n.665T>C

Select item 149036005313.

rs1490360053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:57960754 (GRCh38)
6:58287032 (GRCh37)
Canonical SPDI:: NC_000006.12:57960753:T:A
Gene:: LOC101927293 (Varview), LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000078/11 (GnomAD)
HGVS:: NC_000006.12:g.57960754T>A, NC_000006.11:g.58287032T>A

Select item 149020123514.

rs1490201235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:57949435 (GRCh38)
6:58275713 (GRCh37)
Canonical SPDI:: NC_000006.12:57949434:A:C,NC_000006.12:57949434:A:G
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.57949435A>C, NC_000006.12:g.57949435A>G, NC_000006.11:g.58275713A>C, NC_000006.11:g.58275713A>G, NR_132994.1:n.860T>G, NR_132994.1:n.860T>C

Select item 149019442515.

rs1490194425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:57959772 (GRCh38)
6:58286050 (GRCh37)
Canonical SPDI:: NC_000006.12:57959771:C:A,NC_000006.12:57959771:C:T
Gene:: LOC101927293 (Varview), LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000049/13 (TOPMED)
T=0.000057/8 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.57959772C>A, NC_000006.12:g.57959772C>T, NC_000006.11:g.58286050C>A, NC_000006.11:g.58286050C>T

Select item 149019423716.

rs1490194237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:57962215 (GRCh38)
6:58288493 (GRCh37)
Canonical SPDI:: NC_000006.12:57962214:A:G
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
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.57962215A>G, NC_000006.11:g.58288493A>G, XR_242044.6:n.666A>G, XR_242044.5:n.284A>G, XR_242044.4:n.73A>G, XR_242044.3:n.7A>G, XR_242044.2:n.3A>G, XR_002956353.2:n.679A>G, XR_002956353.1:n.35A>G, XR_007059624.1:n.666A>G

Select item 149014433717.

rs1490144337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:57955247 (GRCh38)
6:58281525 (GRCh37)
Canonical SPDI:: NC_000006.12:57955246:T:A
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.57955247T>A, NC_000006.11:g.58281525T>A

Select item 148962088518.

rs1489620885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:57948985 (GRCh38)
6:58275263 (GRCh37)
Canonical SPDI:: NC_000006.12:57948984:C:T
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.57948985C>T, NC_000006.11:g.58275263C>T, NR_132994.1:n.1021G>A, NR_125727.1:n.520G>A, NR_132995.1:n.520G>A, NR_125728.1:n.367G>A, NR_125729.1:n.367G>A, NR_132996.1:n.294G>A, NM_206910.1:c.*317G>A, NM_206911.1:c.*164G>A, NR_132997.1:n.475G>A

Select item 148943954519.

rs1489439545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:57945951 (GRCh38)
6:58272229 (GRCh37)
Canonical SPDI:: NC_000006.12:57945950:T:C
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00016/1 (1000Genomes)
HGVS:: NC_000006.12:g.57945951T>C, NC_000006.11:g.58272229T>C, NR_132994.1:n.2360A>G, NR_125727.1:n.1859A>G, NR_132995.1:n.1814A>G, NR_125728.1:n.1706A>G, NR_125729.1:n.1661A>G, NR_132996.1:n.1633A>G

Select item 148943809020.

rs1489438090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:57949309 (GRCh38)
6:58275587 (GRCh37)
Canonical SPDI:: NC_000006.12:57949308:T:C
Gene:: LINC00680 (Varview), LINC00680-GUSBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.57949309T>C, NC_000006.11:g.58275587T>C

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