SNP Links for Gene (Select 6251) - SNP

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Select item 14915792501.

rs1491579250 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:16600568 (GRCh38)
10:16642567 (GRCh37)
Canonical SPDI:: NC_000010.11:16600567:AG:
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.16600568_16600569del, NC_000010.10:g.16642567_16642568del

Select item 14915778072.

rs1491577807 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:16772641 (GRCh38)
10:16814640 (GRCh37)
Canonical SPDI:: NC_000010.11:16772640:GA:
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.16772641_16772642del, NC_000010.10:g.16814640_16814641del

Select item 14915619673.

rs1491561967 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:16723011 (GRCh38)
10:16765010 (GRCh37)
Canonical SPDI:: NC_000010.11:16723009:AAA:A
Gene:: RSU1 (Varview), LOC124902384 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.16723011_16723012del, NC_000010.10:g.16765010_16765011del, XR_007062072.1:n.12743_12744del

Select item 14915524474.

rs1491552447 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:16800609 (GRCh38)
10:16842609 (GRCh37)
Canonical SPDI:: NC_000010.11:16800609:T:TT
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.16800610dup, NC_000010.10:g.16842609dup

Select item 14915501675.

rs1491550167 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:16808022 (GRCh38)
10:16850021 (GRCh37)
Canonical SPDI:: NC_000010.11:16808021:CA:
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.16808022_16808023del, NC_000010.10:g.16850021_16850022del

Select item 14915467156.

rs1491546715 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 10:16772642 (GRCh38)
10:16814642 (GRCh37)
Canonical SPDI:: NC_000010.11:16772642:A:AGA
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16772643_16772644insGA, NC_000010.10:g.16814642_16814643insGA

Select item 14915375047.

rs1491537504 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:16800609 (GRCh38)
10:16842608 (GRCh37)
Canonical SPDI:: NC_000010.11:16800608:GT:
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.16800609_16800610del, NC_000010.10:g.16842608_16842609del

Select item 14915281008.

rs1491528100 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:16733333 (GRCh38)
10:16775332 (GRCh37)
Canonical SPDI:: NC_000010.11:16733331:ATA:A
Gene:: RSU1 (Varview), LOC124902384 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00556/66 (ALFA)
-=0.00039/11 (TOMMO)
HGVS:: NC_000010.11:g.16733333_16733334del, NC_000010.10:g.16775332_16775333del

Select item 14915222449.

rs1491522244 has merged into rs1391185919 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 10:16645894 (GRCh38)
10:16687893 (GRCh37)
Canonical SPDI:: NC_000010.11:16645892:TGT:T,NC_000010.11:16645892:TGT:TGTGT
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
-=0.00027/17 (GnomAD)
HGVS:: NC_000010.11:g.16645894_16645895del, NC_000010.11:g.16645894_16645895dup, NC_000010.10:g.16687893_16687894del, NC_000010.10:g.16687893_16687894dup

Select item 149150951910.

rs1491509519 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:16762515 (GRCh38)
10:16804515 (GRCh37)
Canonical SPDI:: NC_000010.11:16762515::G
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/1 (GnomAD)
HGVS:: NC_000010.11:g.16762515_16762516insG, NC_000010.10:g.16804514_16804515insG

Select item 149150675211.

rs1491506752 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:16624206 (GRCh38)
10:16666205 (GRCh37)
Canonical SPDI:: NC_000010.11:16624205:AT:
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.16624206_16624207del, NC_000010.10:g.16666205_16666206del

Select item 149148987912.

rs1491489879 has merged into rs796946983 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:16718998 (GRCh38)
10:16760997 (GRCh37)
Canonical SPDI:: NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:16718982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RSU1 (Varview), LOC124902384 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.16718998_16719000del, NC_000010.11:g.16718999_16719000del, NC_000010.11:g.16719000del, NC_000010.11:g.16719000dup, NC_000010.11:g.16718999_16719000dup, NC_000010.11:g.16718998_16719000dup, NC_000010.11:g.16718994_16719000dup, NC_000010.11:g.16718992_16719000dup, NC_000010.10:g.16760997_16760999del, NC_000010.10:g.16760998_16760999del, NC_000010.10:g.16760999del, NC_000010.10:g.16760999dup, NC_000010.10:g.16760998_16760999dup, NC_000010.10:g.16760997_16760999dup, NC_000010.10:g.16760993_16760999dup, NC_000010.10:g.16760991_16760999dup, XR_007062072.1:n.16769_16771del, XR_007062072.1:n.16770_16771del, XR_007062072.1:n.16771del, XR_007062072.1:n.16771dup, XR_007062072.1:n.16770_16771dup, XR_007062072.1:n.16769_16771dup, XR_007062072.1:n.16765_16771dup, XR_007062072.1:n.16763_16771dup

Select item 149148032413.

rs1491480324 [Homo sapiens]

Variant type:: INS
Alleles:: ->TACATATATG,TATC [Show Flanks]
Chromosome:: 10:16645886 (GRCh38)
10:16687886 (GRCh37)
Canonical SPDI:: NC_000010.11:16645886::TACATATATG,NC_000010.11:16645886::TATC
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATC=0./0 (ALFA)
HGVS:: NC_000010.11:g.16645886_16645887insTACATATATG, NC_000010.11:g.16645886_16645887insTATC, NC_000010.10:g.16687885_16687886insTACATATATG, NC_000010.10:g.16687885_16687886insTATC

Select item 149147857314.

rs1491478573 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:16805666 (GRCh38)
10:16847665 (GRCh37)
Canonical SPDI:: NC_000010.11:16805665:CA:
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01121/133 (ALFA)
-=0.00432/70 (TOMMO)
HGVS:: NC_000010.11:g.16805666_16805667del, NC_000010.10:g.16847665_16847666del

Select item 149146343715.

rs1491463437 has merged into rs766748303 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:16797866 (GRCh38)
10:16839865 (GRCh37)
Canonical SPDI:: NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:16797856:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTT=0.225/9 (GENOME_DK)
HGVS:: NC_000010.11:g.16797866_16797879del, NC_000010.11:g.16797867_16797879del, NC_000010.11:g.16797868_16797879del, NC_000010.11:g.16797869_16797879del, NC_000010.11:g.16797870_16797879del, NC_000010.11:g.16797872_16797879del, NC_000010.11:g.16797873_16797879del, NC_000010.11:g.16797874_16797879del, NC_000010.11:g.16797875_16797879del, NC_000010.11:g.16797876_16797879del, NC_000010.11:g.16797877_16797879del, NC_000010.11:g.16797878_16797879del, NC_000010.11:g.16797879del, NC_000010.11:g.16797879dup, NC_000010.11:g.16797878_16797879dup, NC_000010.11:g.16797877_16797879dup, NC_000010.11:g.16797876_16797879dup, NC_000010.11:g.16797875_16797879dup, NC_000010.11:g.16797874_16797879dup, NC_000010.11:g.16797873_16797879dup, NC_000010.11:g.16797872_16797879dup, NC_000010.10:g.16839865_16839878del, NC_000010.10:g.16839866_16839878del, NC_000010.10:g.16839867_16839878del, NC_000010.10:g.16839868_16839878del, NC_000010.10:g.16839869_16839878del, NC_000010.10:g.16839871_16839878del, NC_000010.10:g.16839872_16839878del, NC_000010.10:g.16839873_16839878del, NC_000010.10:g.16839874_16839878del, NC_000010.10:g.16839875_16839878del, NC_000010.10:g.16839876_16839878del, NC_000010.10:g.16839877_16839878del, NC_000010.10:g.16839878del, NC_000010.10:g.16839878dup, NC_000010.10:g.16839877_16839878dup, NC_000010.10:g.16839876_16839878dup, NC_000010.10:g.16839875_16839878dup, NC_000010.10:g.16839874_16839878dup, NC_000010.10:g.16839873_16839878dup, NC_000010.10:g.16839872_16839878dup, NC_000010.10:g.16839871_16839878dup

Select item 149145735016.

rs1491457350 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 10:16682574 (GRCh38)
10:16724573 (GRCh37)
Canonical SPDI:: NC_000010.11:16682573:GC:
Gene:: RSU1 (Varview), LOC124902385 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.16682574_16682575del, NC_000010.10:g.16724573_16724574del, XR_007062073.1:n.4919_4920del

Select item 149145552717.

rs1491455527 has merged into rs35171054 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TTT [Show Flanks]
Chromosome:: 10:16656011 (GRCh38)
10:16698010 (GRCh37)
Canonical SPDI:: NC_000010.11:16656010:TTT:TT,NC_000010.11:16656010:TTT:TTTTT
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
TT=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.16656013del, NC_000010.11:g.16656012_16656013dup, NC_000010.10:g.16698012del, NC_000010.10:g.16698011_16698012dup

Select item 149145521418.

rs1491455214 has merged into rs71200966 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 10:16682574 (GRCh38)
10:16724574 (GRCh37)
Canonical SPDI:: NC_000010.11:16682574:CA:CACA,NC_000010.11:16682574:CA:CACACA,NC_000010.11:16682574:CA:CACACACA,NC_000010.11:16682574:CA:CACACACACA,NC_000010.11:16682574:CA:CACACACACACA,NC_000010.11:16682574:CA:CACACACACACACA,NC_000010.11:16682574:CA:CACACACACACACACA,NC_000010.11:16682574:CA:CACACACACACACACACA,NC_000010.11:16682574:CA:CACACACACACACACACACA,NC_000010.11:16682574:CA:CACACACACACACACACACACA,NC_000010.11:16682574:CA:CACACACACACACACACACACACA,NC_000010.11:16682574:CA:CACACACACACACACACACACACACACA
Gene:: RSU1 (Varview), LOC124902385 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0.0195/85 (ALFA)
HGVS:: NC_000010.11:g.16682575_16682576dup, NC_000010.11:g.16682575CA[3], NC_000010.11:g.16682575CA[4], NC_000010.11:g.16682575CA[5], NC_000010.11:g.16682575CA[6], NC_000010.11:g.16682575CA[7], NC_000010.11:g.16682575CA[8], NC_000010.11:g.16682575CA[9], NC_000010.11:g.16682575CA[10], NC_000010.11:g.16682575CA[11], NC_000010.11:g.16682575CA[12], NC_000010.11:g.16682575CA[14], NC_000010.10:g.16724574_16724575dup, NC_000010.10:g.16724574CA[3], NC_000010.10:g.16724574CA[4], NC_000010.10:g.16724574CA[5], NC_000010.10:g.16724574CA[6], NC_000010.10:g.16724574CA[7], NC_000010.10:g.16724574CA[8], NC_000010.10:g.16724574CA[9], NC_000010.10:g.16724574CA[10], NC_000010.10:g.16724574CA[11], NC_000010.10:g.16724574CA[12], NC_000010.10:g.16724574CA[14], XR_007062073.1:n.4918_4919dup, XR_007062073.1:n.4918TG[3], XR_007062073.1:n.4918TG[4], XR_007062073.1:n.4918TG[5], XR_007062073.1:n.4918TG[6], XR_007062073.1:n.4918TG[7], XR_007062073.1:n.4918TG[8], XR_007062073.1:n.4918TG[9], XR_007062073.1:n.4918TG[10], XR_007062073.1:n.4918TG[11], XR_007062073.1:n.4918TG[12], XR_007062073.1:n.4918TG[14]

Select item 149145238519.

rs1491452385 has merged into rs140981728 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 10:16762525 (GRCh38)
10:16804524 (GRCh37)
Canonical SPDI:: NC_000010.11:16762514:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:16762514:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:16762514:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:16762514:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:16762514:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.125/75 (NorthernSweden)
-=0.17611/653 (TWINSUK)
-=0.17774/685 (ALSPAC)
-=0.1847/925 (1000Genomes)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000010.11:g.16762525_16762527del, NC_000010.11:g.16762526_16762527del, NC_000010.11:g.16762527del, NC_000010.11:g.16762527dup, NC_000010.11:g.16762526_16762527dup, NC_000010.10:g.16804524_16804526del, NC_000010.10:g.16804525_16804526del, NC_000010.10:g.16804526del, NC_000010.10:g.16804526dup, NC_000010.10:g.16804525_16804526dup

Select item 149144950720.

rs1491449507 has merged into rs770529236 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACA [Show Flanks]
Chromosome:: 10:16645887 (GRCh38)
10:16687886 (GRCh37)
Canonical SPDI:: NC_000010.11:16645885:ACA:A,NC_000010.11:16645885:ACA:ACACA,NC_000010.11:16645885:ACA:ACACACA
Gene:: RSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
-=0.00013/12 (GnomAD)
-=0.0006/10 (TOMMO)
HGVS:: NC_000010.11:g.16645887_16645888del, NC_000010.11:g.16645887_16645888dup, NC_000010.11:g.16645887CA[3], NC_000010.10:g.16687886_16687887del, NC_000010.10:g.16687886_16687887dup, NC_000010.10:g.16687886CA[3]

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