SNP Links for Gene (Select 23313) - SNP

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Select item 14915668471.

rs1491566847 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:45193603 (GRCh38)
22:45589484 (GRCh37)
Canonical SPDI:: NC_000022.11:45193600:CACA:CA
Gene:: KIAA0930 (Varview), LOC105373064 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.45193601CA[1], NC_000022.10:g.45589482CA[1], NM_001009880.2:c.*3572TG[1], NM_001009880.1:c.*3572TG[1], NM_015264.2:c.*3572TG[1], NM_015264.1:c.*3572TG[1]

Select item 14915420792.

rs1491542079 has merged into rs66491238 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: 22:45209321 (GRCh38)
22:45605202 (GRCh37)
Canonical SPDI:: NC_000022.11:45209320:GGGGGGG:GGGGGG,NC_000022.11:45209320:GGGGGGG:GGGGGGGG,NC_000022.11:45209320:GGGGGGG:GGGGGGGGG
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.2513/1126 (Estonian)
-=0.2594/55 (Vietnamese)
-=0.275/11 (GENOME_DK)
-=0.3046/304 (GoNL)
-=0.3204/1235 (ALSPAC)
-=0.3242/1202 (TWINSUK)
-=0.3517/211 (NorthernSweden)
-=0.4333/792 (Korea1K)
G=0.4975/2479 (1000Genomes)
HGVS:: NC_000022.11:g.45209327del, NC_000022.11:g.45209327dup, NC_000022.11:g.45209326_45209327dup, NC_000022.10:g.45605208del, NC_000022.10:g.45605208dup, NC_000022.10:g.45605207_45605208dup

Select item 14915007613.

rs1491500761 has merged into rs1474332498 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>-,CACCAC [Show Flanks]
Chromosome:: 22:45228867 (GRCh38)
22:45624748 (GRCh37)
Canonical SPDI:: NC_000022.11:45228861:ACCACCAC:ACCAC,NC_000022.11:45228861:ACCACCAC:ACCACCACCAC
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCACCACCAC=0./0 (ALFA)
ACC=0.0003/6 (GnomAD)
-=0.00037/6 (TOMMO)
HGVS:: NC_000022.11:g.45228864CAC[1], NC_000022.11:g.45228864CAC[3], NC_000022.10:g.45624745CAC[1], NC_000022.10:g.45624745CAC[3]

Select item 14914904654.

rs1491490465 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACC,CC,CCACCC,CCACTCACCCGAAAGATCCCTCTCCACCCCCACACC,CCC,CCCACCC,TC [Show Flanks]
Chromosome:: 22:45228899 (GRCh38)
22:45624781 (GRCh37)
Canonical SPDI:: NC_000022.11:45228899::CACC,NC_000022.11:45228899::CC,NC_000022.11:45228899::CCACCC,NC_000022.11:45228899::CCACTCACCCGAAAGATCCCTCTCCACCCCCACACC,NC_000022.11:45228899::CCC,NC_000022.11:45228899::CCCACCC,NC_000022.11:45228899::TC
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
CACC=0.00209/3 (GnomAD)
CC=0.02134/7 (Korea1K)
HGVS:: NC_000022.11:g.45228899_45228900insCACC, NC_000022.11:g.45228899_45228900insCC, NC_000022.11:g.45228899_45228900insCCACCC, NC_000022.11:g.45228899_45228900insCCACTCACCCGAAAGATCCCTCTCCACCCCCACACC, NC_000022.11:g.45228899_45228900insCCC, NC_000022.11:g.45228899_45228900insCCCACCC, NC_000022.11:g.45228899_45228900insTC, NC_000022.10:g.45624780_45624781insCACC, NC_000022.10:g.45624780_45624781insCC, NC_000022.10:g.45624780_45624781insCCACCC, NC_000022.10:g.45624780_45624781insCCACTCACCCGAAAGATCCCTCTCCACCCCCACACC, NC_000022.10:g.45624780_45624781insCCC, NC_000022.10:g.45624780_45624781insCCCACCC, NC_000022.10:g.45624780_45624781insTC

Select item 14914687285.

rs1491468728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:45229208 (GRCh38)
22:45625090 (GRCh37)
Canonical SPDI:: NC_000022.11:45229208:A:AA
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000022.11:g.45229209dup, NC_000022.10:g.45625090dup

Select item 14914262786.

rs1491426278 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CCCCCC [Show Flanks]
Chromosome:: 22:45228891 (GRCh38)
22:45624773 (GRCh37)
Canonical SPDI:: NC_000022.11:45228891::C,NC_000022.11:45228891::CCCCCC
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00028/1 (TOMMO)
C=0.00057/1 (GnomAD)
HGVS:: NC_000022.11:g.45228891_45228892insC, NC_000022.11:g.45228891_45228892insCCCCCC, NC_000022.10:g.45624772_45624773insC, NC_000022.10:g.45624772_45624773insCCCCCC

Select item 14914134687.

rs1491413468 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:45219581 (GRCh38)
22:45615463 (GRCh37)
Canonical SPDI:: NC_000022.11:45219581:G:GG
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.45219582dup, NC_000022.10:g.45615463dup

Select item 14913705148.

rs1491370514 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:45228891 (GRCh38)
22:45624772 (GRCh37)
Canonical SPDI:: NC_000022.11:45228890:AT:
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00435/2 (NorthernSweden)
-=0.01582/114 (TOMMO)
-=0.02623/32 (Korea1K)
HGVS:: NC_000022.11:g.45228891_45228892del, NC_000022.10:g.45624772_45624773del

Select item 14913209769.

rs1491320976 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 22:45229209 (GRCh38)
22:45625090 (GRCh37)
Canonical SPDI:: NC_000022.11:45229207:CAC:C
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00666/79 (ALFA)
-=0.00029/3 (TOMMO)
HGVS:: NC_000022.11:g.45229209_45229210del, NC_000022.10:g.45625090_45625091del

Select item 149131593410.

rs1491315934 has merged into rs10708165 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 22:45242368 (GRCh38)
22:45638249 (GRCh37)
Canonical SPDI:: NC_000022.11:45242364:AAAAAAAAA:AAA,NC_000022.11:45242364:AAAAAAAAA:AAAAAAA,NC_000022.11:45242364:AAAAAAAAA:AAAAAAAA,NC_000022.11:45242364:AAAAAAAAA:AAAAAAAAAA,NC_000022.11:45242364:AAAAAAAAA:AAAAAAAAAAA
Gene:: KIAA0930 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.445/267 (NorthernSweden)
-=0.4513/2260 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000022.11:g.45242368_45242373del, NC_000022.11:g.45242372_45242373del, NC_000022.11:g.45242373del, NC_000022.11:g.45242373dup, NC_000022.11:g.45242372_45242373dup, NC_000022.10:g.45638249_45638254del, NC_000022.10:g.45638253_45638254del, NC_000022.10:g.45638254del, NC_000022.10:g.45638254dup, NC_000022.10:g.45638253_45638254dup

Select item 149129751811.

rs1491297518 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:45228861 (GRCh38)
22:45624742 (GRCh37)
Canonical SPDI:: NC_000022.11:45228860:AA:
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00272/38 (TOMMO)
HGVS:: NC_000022.11:g.45228861_45228862del, NC_000022.10:g.45624742_45624743del

Select item 149128925612.

rs1491289256 has merged into rs35293203 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 22:45237935 (GRCh38)
22:45633816 (GRCh37)
Canonical SPDI:: NC_000022.11:45237924:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:45237924:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:45237924:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:45237924:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:45237924:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:45237924:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0.00077/8 (ALFA)
-=0.16/96 (NorthernSweden)
-=0.23404/902 (ALSPAC)
-=0.24353/903 (TWINSUK)
-=0.3/12 (GENOME_DK)
-=0.40435/2025 (1000Genomes)
HGVS:: NC_000022.11:g.45237935_45237938del, NC_000022.11:g.45237936_45237938del, NC_000022.11:g.45237937_45237938del, NC_000022.11:g.45237938del, NC_000022.11:g.45237938dup, NC_000022.11:g.45237937_45237938dup, NC_000022.10:g.45633816_45633819del, NC_000022.10:g.45633817_45633819del, NC_000022.10:g.45633818_45633819del, NC_000022.10:g.45633819del, NC_000022.10:g.45633819dup, NC_000022.10:g.45633818_45633819dup

Select item 149123869313.

rs1491238693 has merged into rs3215445 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 22:45235004 (GRCh38)
22:45630885 (GRCh37)
Canonical SPDI:: NC_000022.11:45234999:TTTTTTTTT:TTTT,NC_000022.11:45234999:TTTTTTTTT:TTTTT,NC_000022.11:45234999:TTTTTTTTT:TTTTTT,NC_000022.11:45234999:TTTTTTTTT:TTTTTTT,NC_000022.11:45234999:TTTTTTTTT:TTTTTTTT,NC_000022.11:45234999:TTTTTTTTT:TTTTTTTTTT,NC_000022.11:45234999:TTTTTTTTT:TTTTTTTTTTT
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.0063/9 (1000Genomes)
HGVS:: NC_000022.11:g.45235004_45235008del, NC_000022.11:g.45235005_45235008del, NC_000022.11:g.45235006_45235008del, NC_000022.11:g.45235007_45235008del, NC_000022.11:g.45235008del, NC_000022.11:g.45235008dup, NC_000022.11:g.45235007_45235008dup, NC_000022.10:g.45630885_45630889del, NC_000022.10:g.45630886_45630889del, NC_000022.10:g.45630887_45630889del, NC_000022.10:g.45630888_45630889del, NC_000022.10:g.45630889del, NC_000022.10:g.45630889dup, NC_000022.10:g.45630888_45630889dup

Select item 149123689114.

rs1491236891 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:45193601 (GRCh38)
22:45589483 (GRCh37)
Canonical SPDI:: NC_000022.11:45193601:A:AA
Gene:: KIAA0930 (Varview), LOC105373064 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.45193602dup, NC_000022.10:g.45589483dup, NM_001009880.2:c.*3574dup, NM_001009880.1:c.*3574dup, NM_015264.2:c.*3574dup, NM_015264.1:c.*3574dup

Select item 149123602415.

rs1491236024 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACCACCAAACAC,ACCACCAACCAC,ACCACCAC,ACCACCACCAC,C [Show Flanks]
Chromosome:: 22:45228773 (GRCh38)
22:45624655 (GRCh37)
Canonical SPDI:: NC_000022.11:45228773::ACCACCAAACAC,NC_000022.11:45228773::ACCACCAACCAC,NC_000022.11:45228773::ACCACCAC,NC_000022.11:45228773::ACCACCACCAC,NC_000022.11:45228773::C
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000022.11:g.45228773_45228774insACCACCAAACAC, NC_000022.11:g.45228773_45228774insACCACCAACCAC, NC_000022.11:g.45228773_45228774insACCACCAC, NC_000022.11:g.45228773_45228774insACCACCACCAC, NC_000022.11:g.45228773_45228774insC, NC_000022.10:g.45624654_45624655insACCACCAAACAC, NC_000022.10:g.45624654_45624655insACCACCAACCAC, NC_000022.10:g.45624654_45624655insACCACCAC, NC_000022.10:g.45624654_45624655insACCACCACCAC, NC_000022.10:g.45624654_45624655insC

Select item 149122785516.

rs1491227855 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 22:45216038 (GRCh38)
22:45611919 (GRCh37)
Canonical SPDI:: NC_000022.11:45216036:ACA:A,NC_000022.11:45216036:ACA:ACACA
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
-=0.001287/180 (GnomAD)
-=0.001562/8 (1000Genomes)
HGVS:: NC_000022.11:g.45216038_45216039del, NC_000022.11:g.45216038_45216039dup, NC_000022.10:g.45611919_45611920del, NC_000022.10:g.45611919_45611920dup

Select item 149122168117.

rs1491221681 has merged into rs35402834 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 22:45216036 (GRCh38)
22:45611917 (GRCh37)
Canonical SPDI:: NC_000022.11:45216027:AAAAAAAAAA:AAAAAAAA,NC_000022.11:45216027:AAAAAAAAAA:AAAAAAAAA,NC_000022.11:45216027:AAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:45216027:AAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:45216027:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:45216027:AAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2307/593 (1000Genomes)
HGVS:: NC_000022.11:g.45216036_45216037del, NC_000022.11:g.45216037del, NC_000022.11:g.45216037dup, NC_000022.11:g.45216036_45216037dup, NC_000022.11:g.45216035_45216037dup, NC_000022.11:g.45216034_45216037dup, NC_000022.10:g.45611917_45611918del, NC_000022.10:g.45611918del, NC_000022.10:g.45611918dup, NC_000022.10:g.45611917_45611918dup, NC_000022.10:g.45611916_45611918dup, NC_000022.10:g.45611915_45611918dup

Select item 149119098018.

rs1491190980 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:45228899 (GRCh38)
22:45624780 (GRCh37)
Canonical SPDI:: NC_000022.11:45228898:AA:
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00073/1 (Korea1K)
-=0.00875/87 (TOMMO)
HGVS:: NC_000022.11:g.45228899_45228900del, NC_000022.10:g.45624780_45624781del

Select item 149117039819.

rs1491170398 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:45228743 (GRCh38)
22:45624624 (GRCh37)
Canonical SPDI:: NC_000022.11:45228742:TA:
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000022.11:g.45228743_45228744del, NC_000022.10:g.45624624_45624625del

Select item 149115906920.

rs1491159069 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>-,CACCAC [Show Flanks]
Chromosome:: 22:45228749 (GRCh38)
22:45624630 (GRCh37)
Canonical SPDI:: NC_000022.11:45228743:ACCACCAC:ACCAC,NC_000022.11:45228743:ACCACCAC:ACCACCACCAC
Gene:: KIAA0930 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACCACCACCAC=0./0 (ALFA)
-=0.00029/3 (GnomAD)
HGVS:: NC_000022.11:g.45228746CAC[1], NC_000022.11:g.45228746CAC[3], NC_000022.10:g.45624627CAC[1], NC_000022.10:g.45624627CAC[3]

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