SNP Links for Gene (Select 4593) - SNP

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Select item 14915814411.

rs1491581441 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATC,ATG,ATTTA,ATTTTA,G [Show Flanks]
Chromosome:: 9:110701653 (GRCh38)
9:113463934 (GRCh37)
Canonical SPDI:: NC_000009.12:110701653::A,NC_000009.12:110701653::ATC,NC_000009.12:110701653::ATG,NC_000009.12:110701653::ATTTA,NC_000009.12:110701653::ATTTTA,NC_000009.12:110701653::G
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATC=0./0 (ALFA)
ATTTA=0.00028/1 (GnomAD)
HGVS:: NC_000009.12:g.110701653_110701654insA, NC_000009.12:g.110701653_110701654insATC, NC_000009.12:g.110701653_110701654insATG, NC_000009.12:g.110701653_110701654insATTTA, NC_000009.12:g.110701653_110701654insATTTTA, NC_000009.12:g.110701653_110701654insG, NC_000009.11:g.113463933_113463934insA, NC_000009.11:g.113463933_113463934insATC, NC_000009.11:g.113463933_113463934insATG, NC_000009.11:g.113463933_113463934insATTTA, NC_000009.11:g.113463933_113463934insATTTTA, NC_000009.11:g.113463933_113463934insG, NG_016016.2:g.37863_37864insA, NG_016016.2:g.37863_37864insATC, NG_016016.2:g.37863_37864insATG, NG_016016.2:g.37863_37864insATTTA, NG_016016.2:g.37863_37864insATTTTA, NG_016016.2:g.37863_37864insG

Select item 14915600762.

rs1491560076 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATATTATATACTATATAT,TATATATTATATATTATATACTATATAT [Show Flanks]
Chromosome:: 9:110676363 (GRCh38)
9:113438644 (GRCh37)
Canonical SPDI:: NC_000009.12:110676363:TATATAT:TATATATTATATATTATATACTATATAT,NC_000009.12:110676363:TATATAT:TATATATTATATATTATATATTATATACTATATAT
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATTATATATTATATATTATATACTATATAT=0./0 (ALFA)
TATATATTATATATTATATATTATATAC=0.00125/8 (1000Genomes)
HGVS:: NC_000009.12:g.110676364_110676370TATATAT[2]TA[3]CTATATAT[1], NC_000009.12:g.110676364_110676370TATATAT[3]TA[3]CTATATAT[1], NC_000009.11:g.113438644_113438650TATATAT[2]TA[3]CTATATAT[1], NC_000009.11:g.113438644_113438650TATATAT[3]TA[3]CTATATAT[1], NG_016016.2:g.12574_12580TATATAT[2]TA[3]CTATATAT[1], NG_016016.2:g.12574_12580TATATAT[3]TA[3]CTATATAT[1]

Select item 14915491513.

rs1491549151 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATATAA,AATATATAATA,ATA,ATAAA,ATATTA [Show Flanks]
Chromosome:: 9:110681080 (GRCh38)
9:113443361 (GRCh37)
Canonical SPDI:: NC_000009.12:110681080::A,NC_000009.12:110681080::AA,NC_000009.12:110681080::AATATAA,NC_000009.12:110681080::AATATATAATA,NC_000009.12:110681080::ATA,NC_000009.12:110681080::ATAAA,NC_000009.12:110681080::ATATTA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000009.12:g.110681080_110681081insA, NC_000009.12:g.110681080_110681081insAA, NC_000009.12:g.110681080_110681081insAATATAA, NC_000009.12:g.110681080_110681081insAATATATAATA, NC_000009.12:g.110681080_110681081insATA, NC_000009.12:g.110681080_110681081insATAAA, NC_000009.12:g.110681080_110681081insATATTA, NC_000009.11:g.113443360_113443361insA, NC_000009.11:g.113443360_113443361insAA, NC_000009.11:g.113443360_113443361insAATATAA, NC_000009.11:g.113443360_113443361insAATATATAATA, NC_000009.11:g.113443360_113443361insATA, NC_000009.11:g.113443360_113443361insATAAA, NC_000009.11:g.113443360_113443361insATATTA, NG_016016.2:g.17290_17291insA, NG_016016.2:g.17290_17291insAA, NG_016016.2:g.17290_17291insAATATAA, NG_016016.2:g.17290_17291insAATATATAATA, NG_016016.2:g.17290_17291insATA, NG_016016.2:g.17290_17291insATAAA, NG_016016.2:g.17290_17291insATATTA

Select item 14915375124.

rs1491537512 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:110775669 (GRCh38)
9:113537950 (GRCh37)
Canonical SPDI:: NC_000009.12:110775669:TTTTTT:TTTTTTT
Gene:: MUSK (Varview), LOC107987115 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.110775675dup, NC_000009.11:g.113537955dup, NG_016016.2:g.111885dup

Select item 14915310585.

rs1491531058 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:110701913 (GRCh38)
9:113464194 (GRCh37)
Canonical SPDI:: NC_000009.12:110701913:A:AA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000009.12:g.110701914dup, NC_000009.11:g.113464194dup, NG_016016.2:g.38124dup

Select item 14915174696.

rs1491517469 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:110701904 (GRCh38)
9:113464184 (GRCh37)
Canonical SPDI:: NC_000009.12:110701902:TAT:T
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.110701904_110701905del, NC_000009.11:g.113464184_113464185del, NG_016016.2:g.38114_38115del

Select item 14915086737.

rs1491508673 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 9:110681064 (GRCh38)
9:113443344 (GRCh37)
Canonical SPDI:: NC_000009.12:110681057:TATATATATA:TATATA,NC_000009.12:110681057:TATATATATA:TATATATA,NC_000009.12:110681057:TATATATATA:TATATATATATA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
-=0.00191/28 (TOMMO)
-=0.00595/104 (GnomAD)
HGVS:: NC_000009.12:g.110681058TA[3], NC_000009.12:g.110681058TA[4], NC_000009.12:g.110681058TA[6], NC_000009.11:g.113443338TA[3], NC_000009.11:g.113443338TA[4], NC_000009.11:g.113443338TA[6], NG_016016.2:g.17268TA[3], NG_016016.2:g.17268TA[4], NG_016016.2:g.17268TA[6]

Select item 14915056598.

rs1491505659 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATATATAAATATATAATTATATATA [Show Flanks]
Chromosome:: 9:110689688 (GRCh38)
9:113451968 (GRCh37)
Canonical SPDI:: NC_000009.12:110689683:TATATATA:TATA,NC_000009.12:110689683:TATATATA:TATATA,NC_000009.12:110689683:TATATATA:TATATATATATATAAATATATAATTATATATA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
HGVS:: NC_000009.12:g.110689684TA[2], NC_000009.12:g.110689684TA[3], NC_000009.12:g.110689684_110689691TA[7]AATATATAATTATATATA[1], NC_000009.11:g.113451964TA[2], NC_000009.11:g.113451964TA[3], NC_000009.11:g.113451964_113451971TA[7]AATATATAATTATATATA[1], NG_016016.2:g.25894TA[2], NG_016016.2:g.25894TA[3], NG_016016.2:g.25894_25901TA[7]AATATATAATTATATATA[1]

Select item 14914987799.

rs1491498779 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,ATAA,ATAATATATATAATATATAA,ATATAATAA,ATTAATATTA [Show Flanks]
Chromosome:: 9:110681071 (GRCh38)
9:113443352 (GRCh37)
Canonical SPDI:: NC_000009.12:110681071::A,NC_000009.12:110681071::AA,NC_000009.12:110681071::ATAA,NC_000009.12:110681071::ATAATATATATAATATATAA,NC_000009.12:110681071::ATATAATAA,NC_000009.12:110681071::ATTAATATTA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000009.12:g.110681071_110681072insA, NC_000009.12:g.110681071_110681072insAA, NC_000009.12:g.110681071_110681072insATAA, NC_000009.12:g.110681071_110681072insATAATATATATAATATATAA, NC_000009.12:g.110681071_110681072insATATAATAA, NC_000009.12:g.110681071_110681072insATTAATATTA, NC_000009.11:g.113443351_113443352insA, NC_000009.11:g.113443351_113443352insAA, NC_000009.11:g.113443351_113443352insATAA, NC_000009.11:g.113443351_113443352insATAATATATATAATATATAA, NC_000009.11:g.113443351_113443352insATATAATAA, NC_000009.11:g.113443351_113443352insATTAATATTA, NG_016016.2:g.17281_17282insA, NG_016016.2:g.17281_17282insAA, NG_016016.2:g.17281_17282insATAA, NG_016016.2:g.17281_17282insATAATATATATAATATATAA, NG_016016.2:g.17281_17282insATATAATAA, NG_016016.2:g.17281_17282insATTAATATTA

Select item 149148495010.

rs1491484950 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 9:110797117 (GRCh38)
9:113559398 (GRCh37)
Canonical SPDI:: NC_000009.12:110797117:AAA:AAATAAA
Gene:: MUSK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAATAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.110797120_110797121insTAAA, NC_000009.11:g.113559400_113559401insTAAA, NG_016016.2:g.133330_133331insTAAA

Select item 149147747411.

rs1491477474 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:110701914 (GRCh38)
9:113464194 (GRCh37)
Canonical SPDI:: NC_000009.12:110701912:TAT:T
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.110701914_110701915del, NC_000009.11:g.113464194_113464195del, NG_016016.2:g.38124_38125del

Select item 149146984812.

rs1491469848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:110701903 (GRCh38)
9:113464184 (GRCh37)
Canonical SPDI:: NC_000009.12:110701903:A:AA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000009.12:g.110701904dup, NC_000009.11:g.113464184dup, NG_016016.2:g.38114dup

Select item 149146458413.

rs1491464584 has merged into rs1217917603 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:110694226 (GRCh38)
9:113456506 (GRCh37)
Canonical SPDI:: NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:110694215:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.110694226_110694236del, NC_000009.12:g.110694228_110694236del, NC_000009.12:g.110694229_110694236del, NC_000009.12:g.110694230_110694236del, NC_000009.12:g.110694231_110694236del, NC_000009.12:g.110694232_110694236del, NC_000009.12:g.110694233_110694236del, NC_000009.12:g.110694234_110694236del, NC_000009.12:g.110694235_110694236del, NC_000009.12:g.110694236del, NC_000009.12:g.110694236dup, NC_000009.12:g.110694235_110694236dup, NC_000009.12:g.110694234_110694236dup, NC_000009.12:g.110694233_110694236dup, NC_000009.12:g.110694232_110694236dup, NC_000009.12:g.110694231_110694236dup, NC_000009.12:g.110694230_110694236dup, NC_000009.12:g.110694229_110694236dup, NC_000009.12:g.110694228_110694236dup, NC_000009.12:g.110694227_110694236dup, NC_000009.12:g.110694226_110694236dup, NC_000009.12:g.110694225_110694236dup, NC_000009.12:g.110694224_110694236dup, NC_000009.12:g.110694223_110694236dup, NC_000009.11:g.113456506_113456516del, NC_000009.11:g.113456508_113456516del, NC_000009.11:g.113456509_113456516del, NC_000009.11:g.113456510_113456516del, NC_000009.11:g.113456511_113456516del, NC_000009.11:g.113456512_113456516del, NC_000009.11:g.113456513_113456516del, NC_000009.11:g.113456514_113456516del, NC_000009.11:g.113456515_113456516del, NC_000009.11:g.113456516del, NC_000009.11:g.113456516dup, NC_000009.11:g.113456515_113456516dup, NC_000009.11:g.113456514_113456516dup, NC_000009.11:g.113456513_113456516dup, NC_000009.11:g.113456512_113456516dup, NC_000009.11:g.113456511_113456516dup, NC_000009.11:g.113456510_113456516dup, NC_000009.11:g.113456509_113456516dup, NC_000009.11:g.113456508_113456516dup, NC_000009.11:g.113456507_113456516dup, NC_000009.11:g.113456506_113456516dup, NC_000009.11:g.113456505_113456516dup, NC_000009.11:g.113456504_113456516dup, NC_000009.11:g.113456503_113456516dup, NG_016016.2:g.30436_30446del, NG_016016.2:g.30438_30446del, NG_016016.2:g.30439_30446del, NG_016016.2:g.30440_30446del, NG_016016.2:g.30441_30446del, NG_016016.2:g.30442_30446del, NG_016016.2:g.30443_30446del, NG_016016.2:g.30444_30446del, NG_016016.2:g.30445_30446del, NG_016016.2:g.30446del, NG_016016.2:g.30446dup, NG_016016.2:g.30445_30446dup, NG_016016.2:g.30444_30446dup, NG_016016.2:g.30443_30446dup, NG_016016.2:g.30442_30446dup, NG_016016.2:g.30441_30446dup, NG_016016.2:g.30440_30446dup, NG_016016.2:g.30439_30446dup, NG_016016.2:g.30438_30446dup, NG_016016.2:g.30437_30446dup, NG_016016.2:g.30436_30446dup, NG_016016.2:g.30435_30446dup, NG_016016.2:g.30434_30446dup, NG_016016.2:g.30433_30446dup

Select item 149146434714.

rs1491464347 has merged into rs1290350027 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 9:110701663 (GRCh38)
9:113463943 (GRCh37)
Canonical SPDI:: NC_000009.12:110701661:TTT:T,NC_000009.12:110701661:TTT:TT,NC_000009.12:110701661:TTT:TTTT,NC_000009.12:110701661:TTT:TTTTT
Gene:: MUSK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.110701663_110701664del, NC_000009.12:g.110701664del, NC_000009.12:g.110701664dup, NC_000009.12:g.110701663_110701664dup, NC_000009.11:g.113463943_113463944del, NC_000009.11:g.113463944del, NC_000009.11:g.113463944dup, NC_000009.11:g.113463943_113463944dup, NG_016016.2:g.37873_37874del, NG_016016.2:g.37874del, NG_016016.2:g.37874dup, NG_016016.2:g.37873_37874dup

Select item 149145872615.

rs1491458726 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:110681014 (GRCh38)
9:113443294 (GRCh37)
Canonical SPDI:: NC_000009.12:110681013:AA:
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00066/21 (GnomAD)
-=0.00082/14 (TOMMO)
HGVS:: NC_000009.12:g.110681014_110681015del, NC_000009.11:g.113443294_113443295del, NG_016016.2:g.17224_17225del

Select item 149143715716.

rs1491437157 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:110761593 (GRCh38)
9:113523874 (GRCh37)
Canonical SPDI:: NC_000009.12:110761593:G:GG
Gene:: MUSK (Varview), LOC107987115 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000064/8 (GnomAD)
HGVS:: NC_000009.12:g.110761594dup, NC_000009.11:g.113523874dup, NG_016016.2:g.97804dup, XR_001746892.2:n.3501dup

Select item 149142734417.

rs1491427344 has merged into rs1433311389 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 9:110701692 (GRCh38)
9:113463972 (GRCh37)
Canonical SPDI:: NC_000009.12:110701690:TTT:T,NC_000009.12:110701690:TTT:TT,NC_000009.12:110701690:TTT:TTTT
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.0085/46 (GnomAD)
-=0.14286/12 (NorthernSweden)
HGVS:: NC_000009.12:g.110701692_110701693del, NC_000009.12:g.110701693del, NC_000009.12:g.110701693dup, NC_000009.11:g.113463972_113463973del, NC_000009.11:g.113463973del, NC_000009.11:g.113463973dup, NG_016016.2:g.37902_37903del, NG_016016.2:g.37903del, NG_016016.2:g.37903dup

Select item 149142667418.

rs1491426674 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATAATATATATA,TATAATATATATTATATTATATATATTATATATATTATATATATAATATAATATATA,TATATA [Show Flanks]
Chromosome:: 9:110681099 (GRCh38)
9:113443379 (GRCh37)
Canonical SPDI:: NC_000009.12:110681094:TATATA:TATA,NC_000009.12:110681094:TATATA:TATATATA,NC_000009.12:110681094:TATATA:TATATATAATATATATA,NC_000009.12:110681094:TATATA:TATATATAATATATATTATATTATATATATTATATATATTATATATATAATATAATATATA,NC_000009.12:110681094:TATATA:TATATATATA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATA=0./0 (ALFA)
TATATATAATATATATTATATTATATATATTATATATATTATATATATAATATAA=0.00015/2 (GnomAD)
HGVS:: NC_000009.12:g.110681095TA[2], NC_000009.12:g.110681095TA[4], NC_000009.12:g.110681095_110681100TA[4]AT[4]A[1], NC_000009.12:g.110681095_110681100TA[4]AT[4]TATATTATA[3]TA[3]ATATA[2]TA[1], NC_000009.12:g.110681095TA[5], NC_000009.11:g.113443375TA[2], NC_000009.11:g.113443375TA[4], NC_000009.11:g.113443375_113443380TA[4]AT[4]A[1], NC_000009.11:g.113443375_113443380TA[4]AT[4]TATATTATA[3]TA[3]ATATA[2]TA[1], NC_000009.11:g.113443375TA[5], NG_016016.2:g.17305TA[2], NG_016016.2:g.17305TA[4], NG_016016.2:g.17305_17310TA[4]AT[4]A[1], NG_016016.2:g.17305_17310TA[4]AT[4]TATATTATA[3]TA[3]ATATA[2]TA[1], NG_016016.2:g.17305TA[5]

Select item 149142421019.

rs1491424210 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATG,G [Show Flanks]
Chromosome:: 9:110701691 (GRCh38)
9:113463972 (GRCh37)
Canonical SPDI:: NC_000009.12:110701691::A,NC_000009.12:110701691::ATA,NC_000009.12:110701691::ATG,NC_000009.12:110701691::G
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
A=0.0099/2 (GnomAD)
HGVS:: NC_000009.12:g.110701691_110701692insA, NC_000009.12:g.110701691_110701692insATA, NC_000009.12:g.110701691_110701692insATG, NC_000009.12:g.110701691_110701692insG, NC_000009.11:g.113463971_113463972insA, NC_000009.11:g.113463971_113463972insATA, NC_000009.11:g.113463971_113463972insATG, NC_000009.11:g.113463971_113463972insG, NG_016016.2:g.37901_37902insA, NG_016016.2:g.37901_37902insATA, NG_016016.2:g.37901_37902insATG, NG_016016.2:g.37901_37902insG

Select item 149142055720.

rs1491420557 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATA,ATATATTAATATTATATATATTATATAATATTATATATATTATATAATATA,ATATATTATATATTATATTATATATATAATATA [Show Flanks]
Chromosome:: 9:110681058 (GRCh38)
9:113443339 (GRCh37)
Canonical SPDI:: NC_000009.12:110681058:ATATA:ATATAATATA,NC_000009.12:110681058:ATATA:ATATAATATATTAATATTATATATATTATATAATATTATATATATTATATAATATA,NC_000009.12:110681058:ATATA:ATATAATATATTATATATTATATTATATATATAATATA
Gene:: MUSK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: ATATAATATATTATATATTATATTATATATATA=0.00067/10 (TOMMO)
HGVS:: NC_000009.12:g.110681059_110681063dup, NC_000009.12:g.110681059_110681063ATATA[2]TTAATATTATATATATTATATAATATTATATATATTATATAATATA[1], NC_000009.12:g.110681059_110681063ATATA[2]TTATATATTATATTATATATATAATATA[1], NC_000009.11:g.113443339_113443343dup, NC_000009.11:g.113443339_113443343ATATA[2]TTAATATTATATATATTATATAATATTATATATATTATATAATATA[1], NC_000009.11:g.113443339_113443343ATATA[2]TTATATATTATATTATATATATAATATA[1], NG_016016.2:g.17269_17273dup, NG_016016.2:g.17269_17273ATATA[2]TTAATATTATATATATTATATAATATTATATATATTATATAATATA[1], NG_016016.2:g.17269_17273ATATA[2]TTATATATTATATTATATATATAATATA[1]

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