SNP Links for Gene (Select 375686) - SNP

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Select item 14915623291.

rs1491562329 has merged into rs1184651892 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:144042326 (GRCh38)
8:145097225 (GRCh37)
Canonical SPDI:: NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144042311:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.144042326_144042336del, NC_000008.11:g.144042327_144042336del, NC_000008.11:g.144042328_144042336del, NC_000008.11:g.144042329_144042336del, NC_000008.11:g.144042330_144042336del, NC_000008.11:g.144042331_144042336del, NC_000008.11:g.144042332_144042336del, NC_000008.11:g.144042333_144042336del, NC_000008.11:g.144042334_144042336del, NC_000008.11:g.144042335_144042336del, NC_000008.11:g.144042336del, NC_000008.11:g.144042336dup, NC_000008.11:g.144042335_144042336dup, NC_000008.11:g.144042334_144042336dup, NC_000008.11:g.144042333_144042336dup, NC_000008.11:g.144042332_144042336dup, NC_000008.11:g.144042331_144042336dup, NC_000008.11:g.144042330_144042336dup, NC_000008.11:g.144042329_144042336dup, NC_000008.11:g.144042328_144042336dup, NC_000008.11:g.144042327_144042336dup, NC_000008.11:g.144042326_144042336dup, NC_000008.11:g.144042325_144042336dup, NC_000008.11:g.144042324_144042336dup, NC_000008.11:g.144042323_144042336dup, NC_000008.11:g.144042322_144042336dup, NC_000008.11:g.144042321_144042336dup, NC_000008.11:g.144042319_144042336dup, NC_000008.11:g.144042317_144042336dup, NW_003315923.1:g.380971_380981del, NW_003315923.1:g.380972_380981del, NW_003315923.1:g.380973_380981del, NW_003315923.1:g.380974_380981del, NW_003315923.1:g.380975_380981del, NW_003315923.1:g.380976_380981del, NW_003315923.1:g.380977_380981del, NW_003315923.1:g.380978_380981del, NW_003315923.1:g.380979_380981del, NW_003315923.1:g.380980_380981del, NW_003315923.1:g.380981del, NW_003315923.1:g.380981dup, NW_003315923.1:g.380980_380981dup, NW_003315923.1:g.380979_380981dup, NW_003315923.1:g.380978_380981dup, NW_003315923.1:g.380977_380981dup, NW_003315923.1:g.380976_380981dup, NW_003315923.1:g.380975_380981dup, NW_003315923.1:g.380974_380981dup, NW_003315923.1:g.380973_380981dup, NW_003315923.1:g.380972_380981dup, NW_003315923.1:g.380971_380981dup, NW_003315923.1:g.380970_380981dup, NW_003315923.1:g.380969_380981dup, NW_003315923.1:g.380968_380981dup, NW_003315923.1:g.380967_380981dup, NW_003315923.1:g.380966_380981dup, NW_003315923.1:g.380964_380981dup, NW_003315923.1:g.380962_380981dup, NC_000008.10:g.145097227_145097237del, NC_000008.10:g.145097228_145097237del, NC_000008.10:g.145097229_145097237del, NC_000008.10:g.145097230_145097237del, NC_000008.10:g.145097231_145097237del, NC_000008.10:g.145097232_145097237del, NC_000008.10:g.145097233_145097237del, NC_000008.10:g.145097234_145097237del, NC_000008.10:g.145097235_145097237del, NC_000008.10:g.145097236_145097237del, NC_000008.10:g.145097237del, NC_000008.10:g.145097237dup, NC_000008.10:g.145097236_145097237dup, NC_000008.10:g.145097235_145097237dup, NC_000008.10:g.145097234_145097237dup, NC_000008.10:g.145097233_145097237dup, NC_000008.10:g.145097232_145097237dup, NC_000008.10:g.145097231_145097237dup, NC_000008.10:g.145097230_145097237dup, NC_000008.10:g.145097229_145097237dup, NC_000008.10:g.145097228_145097237dup, NC_000008.10:g.145097227_145097237dup, NC_000008.10:g.145097226_145097237dup, NC_000008.10:g.145097225_145097237dup, NC_000008.10:g.145097224_145097237dup, NC_000008.10:g.145097223_145097237dup, NC_000008.10:g.145097222_145097237dup, NC_000008.10:g.145097220_145097237dup, NC_000008.10:g.145097218_145097237dup

Select item 14915203142.

rs1491520314 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAG [Show Flanks]
Chromosome:: 8:144019063 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144019063::AAAG
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAG=0./0 (ALFA)
HGVS:: NC_000008.11:g.144019063_144019064insAAAG, NW_003315923.1:g.357708_357709insAAAG

Select item 14914447583.

rs1491444758 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:144019041 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144019040:CA:
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.144019041_144019042del, NW_003315923.1:g.357686_357687del

Select item 14914129494.

rs1491412949 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:144015740 (GRCh38)
8:145089908 (GRCh37)
Canonical SPDI:: NC_000008.11:144015739:CA:
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000008.11:g.144015740_144015741del, NW_003315923.1:g.354385_354386del, NC_000008.10:g.145089908_145089909del

Select item 14913479155.

rs1491347915 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 8:144042312 (GRCh38)
8:145097214 (GRCh37)
Canonical SPDI:: NC_000008.11:144042312::A,NC_000008.11:144042312::ATA,NC_000008.11:144042312::ATATA,NC_000008.11:144042312::ATATATA,NC_000008.11:144042312::ATATATATA,NC_000008.11:144042312::ATATATATATA,NC_000008.11:144042312::ATATATATATATA,NC_000008.11:144042312::ATATATATATATATA,NC_000008.11:144042312::ATATATATATATATATA,NC_000008.11:144042312::ATATATATATATATATATA,NC_000008.11:144042312::ATATATATATATATATATATA,NC_000008.11:144042312::ATATATATATATATATATATATATA,NC_000008.11:144042312::ATATATATATATATATATATATATATA,NC_000008.11:144042312::ATATATATATATATATATATATATATATATA
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000008.11:g.144042312_144042313insA, NC_000008.11:g.144042312_144042313insATA, NC_000008.11:g.144042312_144042313insATATA, NC_000008.11:g.144042312_144042313insATATATA, NC_000008.11:g.144042312_144042313insATATATATA, NC_000008.11:g.144042312_144042313insATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATATATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATATATATATATATATA, NC_000008.11:g.144042312_144042313insATATATATATATATATATATATATATATATA, NW_003315923.1:g.380957_380958insA, NW_003315923.1:g.380957_380958insATA, NW_003315923.1:g.380957_380958insATATA, NW_003315923.1:g.380957_380958insATATATA, NW_003315923.1:g.380957_380958insATATATATA, NW_003315923.1:g.380957_380958insATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATATATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATATATATATATATATA, NW_003315923.1:g.380957_380958insATATATATATATATATATATATATATATATA, NC_000008.10:g.145097213_145097214insA, NC_000008.10:g.145097213_145097214insATA, NC_000008.10:g.145097213_145097214insATATA, NC_000008.10:g.145097213_145097214insATATATA, NC_000008.10:g.145097213_145097214insATATATATA, NC_000008.10:g.145097213_145097214insATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATATATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATATATATATATATATA, NC_000008.10:g.145097213_145097214insATATATATATATATATATATATATATATATA

Select item 14913182016.

rs1491318201 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:144019063 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144019062:AG:
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144019063_144019064del, NW_003315923.1:g.357708_357709del

Select item 14911491967.

rs1491149196 has merged into rs1212175839 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:144019051 (GRCh38)
8:8 (GRCh37)
Canonical SPDI:: NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144019041:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPATC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.144019051_144019063del, NC_000008.11:g.144019052_144019063del, NC_000008.11:g.144019053_144019063del, NC_000008.11:g.144019054_144019063del, NC_000008.11:g.144019056_144019063del, NC_000008.11:g.144019057_144019063del, NC_000008.11:g.144019058_144019063del, NC_000008.11:g.144019059_144019063del, NC_000008.11:g.144019060_144019063del, NC_000008.11:g.144019061_144019063del, NC_000008.11:g.144019062_144019063del, NC_000008.11:g.144019063del, NC_000008.11:g.144019063dup, NC_000008.11:g.144019062_144019063dup, NC_000008.11:g.144019061_144019063dup, NC_000008.11:g.144019060_144019063dup, NC_000008.11:g.144019059_144019063dup, NC_000008.11:g.144019058_144019063dup, NC_000008.11:g.144019057_144019063dup, NW_003315923.1:g.357696_357708del, NW_003315923.1:g.357697_357708del, NW_003315923.1:g.357698_357708del, NW_003315923.1:g.357699_357708del, NW_003315923.1:g.357701_357708del, NW_003315923.1:g.357702_357708del, NW_003315923.1:g.357703_357708del, NW_003315923.1:g.357704_357708del, NW_003315923.1:g.357705_357708del, NW_003315923.1:g.357706_357708del, NW_003315923.1:g.357707_357708del, NW_003315923.1:g.357708del, NW_003315923.1:g.357708dup, NW_003315923.1:g.357707_357708dup, NW_003315923.1:g.357706_357708dup, NW_003315923.1:g.357705_357708dup, NW_003315923.1:g.357704_357708dup, NW_003315923.1:g.357703_357708dup, NW_003315923.1:g.357702_357708dup

Select item 14910852108.

rs1491085210 has merged into rs527881198 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 8:144043699 (GRCh38)
8:145098600 (GRCh37)
Canonical SPDI:: NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144043685:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.144043699_144043706del, NC_000008.11:g.144043700_144043706del, NC_000008.11:g.144043702_144043706del, NC_000008.11:g.144043703_144043706del, NC_000008.11:g.144043704_144043706del, NC_000008.11:g.144043705_144043706del, NC_000008.11:g.144043706del, NC_000008.11:g.144043706dup, NC_000008.11:g.144043705_144043706dup, NC_000008.11:g.144043704_144043706dup, NW_003315923.1:g.382344_382351del, NW_003315923.1:g.382345_382351del, NW_003315923.1:g.382347_382351del, NW_003315923.1:g.382348_382351del, NW_003315923.1:g.382349_382351del, NW_003315923.1:g.382350_382351del, NW_003315923.1:g.382351del, NW_003315923.1:g.382351dup, NW_003315923.1:g.382350_382351dup, NW_003315923.1:g.382349_382351dup, NC_000008.10:g.145098600_145098607del, NC_000008.10:g.145098601_145098607del, NC_000008.10:g.145098603_145098607del, NC_000008.10:g.145098604_145098607del, NC_000008.10:g.145098605_145098607del, NC_000008.10:g.145098606_145098607del, NC_000008.10:g.145098607del, NC_000008.10:g.145098607dup, NC_000008.10:g.145098606_145098607dup, NC_000008.10:g.145098605_145098607dup

Select item 14909656199.

rs1490965619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:144028909 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144028908:G:A,NC_000008.11:144028908:G:C
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144028909G>A, NC_000008.11:g.144028909G>C, NW_003315923.1:g.367554G>A, NW_003315923.1:g.367554G>C

Select item 149093205310.

rs1490932053 [Homo sapiens]

Variant type:: DEL
Alleles:: ATATATATATATATA>- [Show Flanks]
Chromosome:: 8:144042297 (GRCh38)
8:145097212 (GRCh37)
Canonical SPDI:: NC_000008.11:144042296:ATATATATATATATA:
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.144042297_144042311del, NW_003315923.1:g.380942_380956del, NC_000008.10:g.145097212T>A, NC_000008.10:g.145097198_145097212del

Select item 149078799311.

rs1490787993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:144009189 (GRCh38)
8:145083357 (GRCh37)
Canonical SPDI:: NC_000008.11:144009188:C:A,NC_000008.11:144009188:C:T
Gene:: PARP10 (Varview), SPATC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.144009189C>A, NC_000008.11:g.144009189C>T, NW_003315923.1:g.347834C>A, NW_003315923.1:g.347834C>T, NC_000008.10:g.145083357C>A, NC_000008.10:g.145083357C>T

Select item 149077604212.

rs1490776042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:144022662 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144022661:T:A
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.144022662T>A, NW_003315923.1:g.361307T>A

Select item 149071777113.

rs1490717771 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:144042640 (GRCh38)
8:145097541 (GRCh37)
Canonical SPDI:: NC_000008.11:144042638:AAA:A
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.144042640_144042641del, NW_003315923.1:g.381285_381286del, NC_000008.10:g.145097541_145097542del

Select item 149061428114.

rs1490614281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144022432 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144022431:A:G
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.144022432A>G, NW_003315923.1:g.361077A>G

Select item 149041739815.

rs1490417398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144035201 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144035200:C:T
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.144035201C>T, NW_003315923.1:g.373846C>T

Select item 149037901216.

rs1490379012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144023017 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144023016:T:C
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.002183/4 (Korea1K)
HGVS:: NC_000008.11:g.144023017T>C, NW_003315923.1:g.361662T>C

Select item 149036548017.

rs1490365480 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 8:144036247 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144036246:AAAAA:AAAA
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144036251del, NW_003315923.1:g.374896del

Select item 149029837518.

rs1490298375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144009664 (GRCh38)
8:145083832 (GRCh37)
Canonical SPDI:: NC_000008.11:144009663:T:C
Gene:: PARP10 (Varview), SPATC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144009664T>C, NW_003315923.1:g.348309T>C, NC_000008.10:g.145083832T>C

Select item 149028358819.

rs1490283588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:144023013 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144023012:A:C,NC_000008.11:144023012:A:G
Gene:: SPATC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.144023013A>C, NC_000008.11:g.144023013A>G, NW_003315923.1:g.361658A>C, NW_003315923.1:g.361658A>G

Select item 149004893920.

rs1490048939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144023471 (GRCh38)
8:-1 (GRCh37)
Canonical SPDI:: NC_000008.11:144023470:C:T
Gene:: SPATC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.144023471C>T, NW_003315923.1:g.362116C>T

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