SNP Links for Gene (Select 9044) - SNP

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Select item 14915580061.

rs1491558006 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:91978836 (GRCh38)
10:93738593 (GRCh37)
Canonical SPDI:: NC_000010.11:91978835:TC:
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00076/9 (ALFA)
-=0.00039/11 (TOMMO)
-=0.00092/83 (GnomAD)
HGVS:: NC_000010.11:g.91978836_91978837del, NC_000010.10:g.93738593_93738594del

Select item 14915328072.

rs1491532807 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 10:91991265 (GRCh38)
10:93751022 (GRCh37)
Canonical SPDI:: NC_000010.11:91991263:AAA:A,NC_000010.11:91991263:AAA:AAAAA
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00236/28 (ALFA)
-=0.0005/14 (TOMMO)
-=0.00378/270 (GnomAD)
HGVS:: NC_000010.11:g.91991265_91991266del, NC_000010.11:g.91991265_91991266dup, NC_000010.10:g.93751022_93751023del, NC_000010.10:g.93751022_93751023dup

Select item 14915216953.

rs1491521695 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:91938975 (GRCh38)
10:93698732 (GRCh37)
Canonical SPDI:: NC_000010.11:91938974:CA:
Gene:: BTAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.91938975_91938976del, NC_000010.10:g.93698732_93698733del

Select item 14915181334.

rs1491518133 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:92012772 (GRCh38)
10:93772530 (GRCh37)
Canonical SPDI:: NC_000010.11:92012772::G
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/1 (GnomAD)
HGVS:: NC_000010.11:g.92012772_92012773insG, NC_000010.10:g.93772529_93772530insG

Select item 14915030235.

rs1491503023 has merged into rs11400019 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 10:92016495 (GRCh38)
10:93776252 (GRCh37)
Canonical SPDI:: NC_000010.11:92016483:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:92016483:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:92016483:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:92016483:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:92016483:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:92016483:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.29673/1486 (1000Genomes)
T=0.32833/197 (NorthernSweden)
T=0.36893/1368 (TWINSUK)
T=0.37286/1437 (ALSPAC)
T=0.375/15 (GENOME_DK)
HGVS:: NC_000010.11:g.92016495_92016496del, NC_000010.11:g.92016496del, NC_000010.11:g.92016496dup, NC_000010.11:g.92016495_92016496dup, NC_000010.11:g.92016494_92016496dup, NC_000010.11:g.92016493_92016496dup, NC_000010.10:g.93776252_93776253del, NC_000010.10:g.93776253del, NC_000010.10:g.93776253dup, NC_000010.10:g.93776252_93776253dup, NC_000010.10:g.93776251_93776253dup, NC_000010.10:g.93776250_93776253dup

Select item 14914709926.

rs1491470992 has merged into rs1234033242 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCT>-,ATCTATCT [Show Flanks]
Chromosome:: 10:91987753 (GRCh38)
10:93747510 (GRCh37)
Canonical SPDI:: NC_000010.11:91987749:TCTATCT:TCT,NC_000010.11:91987749:TCTATCT:TCTATCTATCT
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTATCTATCT=0./0 (ALFA)
HGVS:: NC_000010.11:g.91987753_91987756del, NC_000010.11:g.91987753_91987756dup, NC_000010.10:g.93747510_93747513del, NC_000010.10:g.93747510_93747513dup

Select item 14914563507.

rs1491456350 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:91987751 (GRCh38)
10:93747508 (GRCh37)
Canonical SPDI:: NC_000010.11:91987748:CTCT:CT
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.91987749CT[1], NC_000010.10:g.93747506CT[1]

Select item 14914516438.

rs1491451643 has merged into rs1187763232 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: 10:91950159 (GRCh38)
10:93709916 (GRCh37)
Canonical SPDI:: NC_000010.11:91950158:GGG:GG,NC_000010.11:91950158:GGG:GGGG,NC_000010.11:91950158:GGG:GGGGG
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
HGVS:: NC_000010.11:g.91950161del, NC_000010.11:g.91950161dup, NC_000010.11:g.91950160_91950161dup, NC_000010.10:g.93709918del, NC_000010.10:g.93709918dup, NC_000010.10:g.93709917_93709918dup

Select item 14914242329.

rs1491424232 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TACACA,TACACACACA,TACACACACACACACA,TATACA,TATACACA,TATATACA [Show Flanks]
Chromosome:: 10:92001985 (GRCh38)
10:93761743 (GRCh37)
Canonical SPDI:: NC_000010.11:92001985:A:ATACA,NC_000010.11:92001985:A:ATACACA,NC_000010.11:92001985:A:ATACACACACA,NC_000010.11:92001985:A:ATACACACACACACACA,NC_000010.11:92001985:A:ATATACA,NC_000010.11:92001985:A:ATATACACA,NC_000010.11:92001985:A:ATATATACA
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACA=0./0 (ALFA)
ATACACACAC=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.92001986_92001987insTACA, NC_000010.11:g.92001986_92001987insTACACA, NC_000010.11:g.92001986_92001987insTACACACACA, NC_000010.11:g.92001986_92001987insTACACACACACACACA, NC_000010.11:g.92001986AT[2]ACA[1], NC_000010.11:g.92001986AT[2]AC[2]A[1], NC_000010.11:g.92001986AT[3]ACA[1], NC_000010.10:g.93761743_93761744insTACA, NC_000010.10:g.93761743_93761744insTACACA, NC_000010.10:g.93761743_93761744insTACACACACA, NC_000010.10:g.93761743_93761744insTACACACACACACACA, NC_000010.10:g.93761743AT[2]ACA[1], NC_000010.10:g.93761743AT[2]AC[2]A[1], NC_000010.10:g.93761743AT[3]ACA[1]

Select item 149141325910.

rs1491413259 has merged into rs36056013 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 10:91985309 (GRCh38)
10:93745066 (GRCh37)
Canonical SPDI:: NC_000010.11:91985295:TATATATATATATAT:TATATATATATAT,NC_000010.11:91985295:TATATATATATATAT:TATATATATATATATAT,NC_000010.11:91985295:TATATATATATATAT:TATATATATATATATATAT,NC_000010.11:91985295:TATATATATATATAT:TATATATATATATATATATAT,NC_000010.11:91985295:TATATATATATATAT:TATATATATATATATATATATATAT
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.35/14 (GENOME_DK)
TA=0.35583/1782 (1000Genomes)
TA=0.37/222 (NorthernSweden)
TA=0.42656/1911 (Estonian)
HGVS:: NC_000010.11:g.91985297AT[6], NC_000010.11:g.91985297AT[8], NC_000010.11:g.91985297AT[9], NC_000010.11:g.91985297AT[10], NC_000010.11:g.91985297AT[12], NC_000010.10:g.93745054AT[6], NC_000010.10:g.93745054AT[8], NC_000010.10:g.93745054AT[9], NC_000010.10:g.93745054AT[10], NC_000010.10:g.93745054AT[12]

Select item 149139827511.

rs1491398275 has merged into rs56966522 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 10:91938997 (GRCh38)
10:93698754 (GRCh37)
Canonical SPDI:: NC_000010.11:91938989:GGGGGGGGGG:GGGGGGG,NC_000010.11:91938989:GGGGGGGGGG:GGGGGGGG,NC_000010.11:91938989:GGGGGGGGGG:GGGGGGGGG,NC_000010.11:91938989:GGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:91938989:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000010.11:g.91938997_91938999del, NC_000010.11:g.91938998_91938999del, NC_000010.11:g.91938999del, NC_000010.11:g.91938999dup, NC_000010.11:g.91938998_91938999dup, NC_000010.10:g.93698754_93698756del, NC_000010.10:g.93698755_93698756del, NC_000010.10:g.93698756del, NC_000010.10:g.93698756dup, NC_000010.10:g.93698755_93698756dup

Select item 149138778012.

rs1491387780 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:92001969 (GRCh38)
10:93761726 (GRCh37)
Canonical SPDI:: NC_000010.11:92001968:CA:
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
-=0.00061/21 (GnomAD)
HGVS:: NC_000010.11:g.92001969_92001970del, NC_000010.10:g.93761726_93761727del

Select item 149138303413.

rs1491383034 has merged into rs202198347 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:92012779 (GRCh38)
10:93772536 (GRCh37)
Canonical SPDI:: NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92012770:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.4643/2325 (1000Genomes)
HGVS:: NC_000010.11:g.92012779_92012790del, NC_000010.11:g.92012781_92012790del, NC_000010.11:g.92012783_92012790del, NC_000010.11:g.92012785_92012790del, NC_000010.11:g.92012786_92012790del, NC_000010.11:g.92012787_92012790del, NC_000010.11:g.92012788_92012790del, NC_000010.11:g.92012789_92012790del, NC_000010.11:g.92012790del, NC_000010.11:g.92012790dup, NC_000010.11:g.92012789_92012790dup, NC_000010.11:g.92012788_92012790dup, NC_000010.11:g.92012787_92012790dup, NC_000010.11:g.92012786_92012790dup, NC_000010.11:g.92012785_92012790dup, NC_000010.11:g.92012784_92012790dup, NC_000010.10:g.93772536_93772547del, NC_000010.10:g.93772538_93772547del, NC_000010.10:g.93772540_93772547del, NC_000010.10:g.93772542_93772547del, NC_000010.10:g.93772543_93772547del, NC_000010.10:g.93772544_93772547del, NC_000010.10:g.93772545_93772547del, NC_000010.10:g.93772546_93772547del, NC_000010.10:g.93772547del, NC_000010.10:g.93772547dup, NC_000010.10:g.93772546_93772547dup, NC_000010.10:g.93772545_93772547dup, NC_000010.10:g.93772544_93772547dup, NC_000010.10:g.93772543_93772547dup, NC_000010.10:g.93772542_93772547dup, NC_000010.10:g.93772541_93772547dup

Select item 149137579614.

rs1491375796 has merged into rs10622641 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:92028772 (GRCh38)
10:93788529 (GRCh37)
Canonical SPDI:: NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:92028759:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.0034/59 (ALFA)
-=0.00475/12 (1000Genomes)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000010.11:g.92028772_92028773del, NC_000010.11:g.92028773del, NC_000010.11:g.92028773dup, NC_000010.11:g.92028772_92028773dup, NC_000010.11:g.92028771_92028773dup, NC_000010.11:g.92028770_92028773dup, NC_000010.11:g.92028768_92028773dup, NC_000010.11:g.92028773_92028774insTTTTTTTTTTTTTTTT, NC_000010.11:g.92028773_92028774insTTTTTTTTTTTTTTTTTT, NC_000010.10:g.93788529_93788530del, NC_000010.10:g.93788530del, NC_000010.10:g.93788530dup, NC_000010.10:g.93788529_93788530dup, NC_000010.10:g.93788528_93788530dup, NC_000010.10:g.93788527_93788530dup, NC_000010.10:g.93788525_93788530dup, NC_000010.10:g.93788530_93788531insTTTTTTTTTTTTTTTT, NC_000010.10:g.93788530_93788531insTTTTTTTTTTTTTTTTTT

Select item 149135812115.

rs1491358121 has merged into rs10561232 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:92001959 (GRCh38)
10:93761716 (GRCh37)
Canonical SPDI:: NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92001946:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4412/15 (GENOME_DK)
-=0.4828/2418 (1000Genomes)
HGVS:: NC_000010.11:g.92001959_92001967del, NC_000010.11:g.92001960_92001967del, NC_000010.11:g.92001962_92001967del, NC_000010.11:g.92001963_92001967del, NC_000010.11:g.92001964_92001967del, NC_000010.11:g.92001965_92001967del, NC_000010.11:g.92001966_92001967del, NC_000010.11:g.92001967del, NC_000010.11:g.92001967dup, NC_000010.11:g.92001966_92001967dup, NC_000010.11:g.92001967_92001968insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.93761716_93761724del, NC_000010.10:g.93761717_93761724del, NC_000010.10:g.93761719_93761724del, NC_000010.10:g.93761720_93761724del, NC_000010.10:g.93761721_93761724del, NC_000010.10:g.93761722_93761724del, NC_000010.10:g.93761723_93761724del, NC_000010.10:g.93761724del, NC_000010.10:g.93761724dup, NC_000010.10:g.93761723_93761724dup, NC_000010.10:g.93761724_93761725insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149135167116.

rs1491351671 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTA [Show Flanks]
Chromosome:: 10:92030656 (GRCh38)
10:93790414 (GRCh37)
Canonical SPDI:: NC_000010.11:92030656:TATTTA:TATTTATTTA
Gene:: BTAF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTATTTA=0./0 (ALFA)
TATT=0.00023/61 (TOPMED)
TATT=0.000236/31 (GnomAD)
TATT=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.92030659_92030662dup, NC_000010.10:g.93790416_93790419dup, NM_003972.3:c.*1726_*1729dup, XM_011540326.3:c.*1726_*1729dup, XM_011540326.2:c.*1726_*1729dup, XM_011540326.1:c.*1726_*1729dup, XM_011540327.3:c.*1726_*1729dup, XM_011540327.2:c.*1726_*1729dup, XM_011540327.1:c.*1726_*1729dup, XM_011540328.3:c.*1726_*1729dup, XM_011540328.2:c.*1726_*1729dup, XM_011540328.1:c.*1726_*1729dup, XM_017016877.2:c.*1726_*1729dup, XM_017016877.1:c.*1726_*1729dup, NR_165093.1:n.8070_8073dup, NR_165097.1:n.7850_7853dup, NR_165091.1:n.7816_7819dup, NR_165100.1:n.7793_7796dup, NR_165099.1:n.7793_7796dup, NR_165102.1:n.7715_7718dup, NR_165095.1:n.7711_7714dup, NR_165098.1:n.7706_7709dup, NR_165104.1:n.7688_7691dup, NR_165094.1:n.7587_7590dup, NR_165103.1:n.7581_7584dup, NR_165092.1:n.7564_7567dup, NR_165101.1:n.7558_7561dup, NR_165096.1:n.7458_7461dup, NR_165090.1:n.7443_7446dup, XM_047425989.1:c.*1726_*1729dup

Select item 149135090317.

rs1491350903 has merged into rs10561233 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 10:92001977 (GRCh38)
10:93761734 (GRCh37)
Canonical SPDI:: NC_000010.11:92001969:ATATATATATATATATA:ATATATA,NC_000010.11:92001969:ATATATATATATATATA:ATATATATA,NC_000010.11:92001969:ATATATATATATATATA:ATATATATATA,NC_000010.11:92001969:ATATATATATATATATA:ATATATATATATA,NC_000010.11:92001969:ATATATATATATATATA:ATATATATATATATA,NC_000010.11:92001969:ATATATATATATATATA:ATATATATATATATATATA,NC_000010.11:92001969:ATATATATATATATATA:ATATATATATATATATATATA
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.92001971TA[3], NC_000010.11:g.92001971TA[4], NC_000010.11:g.92001971TA[5], NC_000010.11:g.92001971TA[6], NC_000010.11:g.92001971TA[7], NC_000010.11:g.92001971TA[9], NC_000010.11:g.92001971TA[10], NC_000010.10:g.93761728TA[3], NC_000010.10:g.93761728TA[4], NC_000010.10:g.93761728TA[5], NC_000010.10:g.93761728TA[6], NC_000010.10:g.93761728TA[7], NC_000010.10:g.93761728TA[9], NC_000010.10:g.93761728TA[10]

Select item 149133367318.

rs1491333673 has merged into rs34292341 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:91947746 (GRCh38)
10:93707503 (GRCh37)
Canonical SPDI:: NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:91947735:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.91947746_91947757del, NC_000010.11:g.91947747_91947757del, NC_000010.11:g.91947748_91947757del, NC_000010.11:g.91947749_91947757del, NC_000010.11:g.91947750_91947757del, NC_000010.11:g.91947751_91947757del, NC_000010.11:g.91947752_91947757del, NC_000010.11:g.91947753_91947757del, NC_000010.11:g.91947754_91947757del, NC_000010.11:g.91947755_91947757del, NC_000010.11:g.91947756_91947757del, NC_000010.11:g.91947757del, NC_000010.11:g.91947757dup, NC_000010.11:g.91947756_91947757dup, NC_000010.11:g.91947755_91947757dup, NC_000010.11:g.91947754_91947757dup, NC_000010.11:g.91947753_91947757dup, NC_000010.11:g.91947752_91947757dup, NC_000010.11:g.91947751_91947757dup, NC_000010.11:g.91947750_91947757dup, NC_000010.11:g.91947749_91947757dup, NC_000010.11:g.91947748_91947757dup, NC_000010.11:g.91947747_91947757dup, NC_000010.11:g.91947738_91947757dup, NC_000010.11:g.91947757_91947758insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.93707503_93707514del, NC_000010.10:g.93707504_93707514del, NC_000010.10:g.93707505_93707514del, NC_000010.10:g.93707506_93707514del, NC_000010.10:g.93707507_93707514del, NC_000010.10:g.93707508_93707514del, NC_000010.10:g.93707509_93707514del, NC_000010.10:g.93707510_93707514del, NC_000010.10:g.93707511_93707514del, NC_000010.10:g.93707512_93707514del, NC_000010.10:g.93707513_93707514del, NC_000010.10:g.93707514del, NC_000010.10:g.93707514dup, NC_000010.10:g.93707513_93707514dup, NC_000010.10:g.93707512_93707514dup, NC_000010.10:g.93707511_93707514dup, NC_000010.10:g.93707510_93707514dup, NC_000010.10:g.93707509_93707514dup, NC_000010.10:g.93707508_93707514dup, NC_000010.10:g.93707507_93707514dup, NC_000010.10:g.93707506_93707514dup, NC_000010.10:g.93707505_93707514dup, NC_000010.10:g.93707504_93707514dup, NC_000010.10:g.93707495_93707514dup, NC_000010.10:g.93707514_93707515insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149132630019.

rs1491326300 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:91950162 (GRCh38)
10:93709920 (GRCh37)
Canonical SPDI:: NC_000010.11:91950162::G
Gene:: BTAF1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00005/3 (GnomAD)
HGVS:: NC_000010.11:g.91950162_91950163insG, NC_000010.10:g.93709919_93709920insG

Select item 149130887620.

rs1491308876 has merged into rs71025383 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:92025819 (GRCh38)
10:93785576 (GRCh37)
Canonical SPDI:: NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:92025810:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BTAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.92025819_92025832del, NC_000010.11:g.92025820_92025832del, NC_000010.11:g.92025821_92025832del, NC_000010.11:g.92025822_92025832del, NC_000010.11:g.92025823_92025832del, NC_000010.11:g.92025825_92025832del, NC_000010.11:g.92025826_92025832del, NC_000010.11:g.92025828_92025832del, NC_000010.11:g.92025830_92025832del, NC_000010.11:g.92025831_92025832del, NC_000010.11:g.92025832del, NC_000010.11:g.92025832dup, NC_000010.11:g.92025831_92025832dup, NC_000010.11:g.92025830_92025832dup, NC_000010.11:g.92025829_92025832dup, NC_000010.11:g.92025828_92025832dup, NC_000010.11:g.92025827_92025832dup, NC_000010.11:g.92025825_92025832dup, NC_000010.11:g.92025824_92025832dup, NC_000010.11:g.92025823_92025832dup, NC_000010.11:g.92025821_92025832dup, NC_000010.11:g.92025819_92025832dup, NC_000010.11:g.92025816_92025832dup, NC_000010.11:g.92025832_92025833insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.93785576_93785589del, NC_000010.10:g.93785577_93785589del, NC_000010.10:g.93785578_93785589del, NC_000010.10:g.93785579_93785589del, NC_000010.10:g.93785580_93785589del, NC_000010.10:g.93785582_93785589del, NC_000010.10:g.93785583_93785589del, NC_000010.10:g.93785585_93785589del, NC_000010.10:g.93785587_93785589del, NC_000010.10:g.93785588_93785589del, NC_000010.10:g.93785589del, NC_000010.10:g.93785589dup, NC_000010.10:g.93785588_93785589dup, NC_000010.10:g.93785587_93785589dup, NC_000010.10:g.93785586_93785589dup, NC_000010.10:g.93785585_93785589dup, NC_000010.10:g.93785584_93785589dup, NC_000010.10:g.93785582_93785589dup, NC_000010.10:g.93785581_93785589dup, NC_000010.10:g.93785580_93785589dup, NC_000010.10:g.93785578_93785589dup, NC_000010.10:g.93785576_93785589dup, NC_000010.10:g.93785573_93785589dup, NC_000010.10:g.93785589_93785590insAAAAAAAAAAAAAAAAAAAAAAAAAA

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