SNP Links for Gene (Select 22954) - SNP

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Select item 14911850591.

rs1491185059 has merged into rs11400163 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:116696958 (GRCh38)
9:119459237 (GRCh37)
Canonical SPDI:: NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.363/1818 (1000Genomes)
HGVS:: NC_000009.12:g.116696958_116696966del, NC_000009.12:g.116696963_116696966del, NC_000009.12:g.116696964_116696966del, NC_000009.12:g.116696965_116696966del, NC_000009.12:g.116696966del, NC_000009.12:g.116696966dup, NC_000009.12:g.116696965_116696966dup, NC_000009.12:g.116696964_116696966dup, NC_000009.12:g.116696959_116696966dup, NC_000009.12:g.116696957_116696966dup, NC_000009.12:g.116696955_116696966dup, NC_000009.11:g.119459237_119459245del, NC_000009.11:g.119459242_119459245del, NC_000009.11:g.119459243_119459245del, NC_000009.11:g.119459244_119459245del, NC_000009.11:g.119459245del, NC_000009.11:g.119459245dup, NC_000009.11:g.119459244_119459245dup, NC_000009.11:g.119459243_119459245dup, NC_000009.11:g.119459238_119459245dup, NC_000009.11:g.119459236_119459245dup, NC_000009.11:g.119459234_119459245dup, NG_021409.2:g.723099_723107del, NG_021409.2:g.723104_723107del, NG_021409.2:g.723105_723107del, NG_021409.2:g.723106_723107del, NG_021409.2:g.723107del, NG_021409.2:g.723107dup, NG_021409.2:g.723106_723107dup, NG_021409.2:g.723105_723107dup, NG_021409.2:g.723100_723107dup, NG_021409.2:g.723098_723107dup, NG_021409.2:g.723096_723107dup, NG_011619.1:g.14657_14665del, NG_011619.1:g.14662_14665del, NG_011619.1:g.14663_14665del, NG_011619.1:g.14664_14665del, NG_011619.1:g.14665del, NG_011619.1:g.14665dup, NG_011619.1:g.14664_14665dup, NG_011619.1:g.14663_14665dup, NG_011619.1:g.14658_14665dup, NG_011619.1:g.14656_14665dup, NG_011619.1:g.14654_14665dup

Select item 14910464082.

rs1491046408 has merged into rs11400163 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:116696958 (GRCh38)
9:119459237 (GRCh37)
Canonical SPDI:: NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:116696950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.363/1818 (1000Genomes)
HGVS:: NC_000009.12:g.116696958_116696966del, NC_000009.12:g.116696963_116696966del, NC_000009.12:g.116696964_116696966del, NC_000009.12:g.116696965_116696966del, NC_000009.12:g.116696966del, NC_000009.12:g.116696966dup, NC_000009.12:g.116696965_116696966dup, NC_000009.12:g.116696964_116696966dup, NC_000009.12:g.116696959_116696966dup, NC_000009.12:g.116696957_116696966dup, NC_000009.12:g.116696955_116696966dup, NC_000009.11:g.119459237_119459245del, NC_000009.11:g.119459242_119459245del, NC_000009.11:g.119459243_119459245del, NC_000009.11:g.119459244_119459245del, NC_000009.11:g.119459245del, NC_000009.11:g.119459245dup, NC_000009.11:g.119459244_119459245dup, NC_000009.11:g.119459243_119459245dup, NC_000009.11:g.119459238_119459245dup, NC_000009.11:g.119459236_119459245dup, NC_000009.11:g.119459234_119459245dup, NG_021409.2:g.723099_723107del, NG_021409.2:g.723104_723107del, NG_021409.2:g.723105_723107del, NG_021409.2:g.723106_723107del, NG_021409.2:g.723107del, NG_021409.2:g.723107dup, NG_021409.2:g.723106_723107dup, NG_021409.2:g.723105_723107dup, NG_021409.2:g.723100_723107dup, NG_021409.2:g.723098_723107dup, NG_021409.2:g.723096_723107dup, NG_011619.1:g.14657_14665del, NG_011619.1:g.14662_14665del, NG_011619.1:g.14663_14665del, NG_011619.1:g.14664_14665del, NG_011619.1:g.14665del, NG_011619.1:g.14665dup, NG_011619.1:g.14664_14665dup, NG_011619.1:g.14663_14665dup, NG_011619.1:g.14658_14665dup, NG_011619.1:g.14656_14665dup, NG_011619.1:g.14654_14665dup

Select item 14910152243.

rs1491015224 has merged into rs56666915 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:116694468 (GRCh38)
9:119456747 (GRCh37)
Canonical SPDI:: NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.116694468_116694479del, NC_000009.12:g.116694469_116694479del, NC_000009.12:g.116694470_116694479del, NC_000009.12:g.116694471_116694479del, NC_000009.12:g.116694473_116694479del, NC_000009.12:g.116694474_116694479del, NC_000009.12:g.116694476_116694479del, NC_000009.12:g.116694477_116694479del, NC_000009.12:g.116694478_116694479del, NC_000009.12:g.116694479del, NC_000009.12:g.116694479dup, NC_000009.12:g.116694478_116694479dup, NC_000009.12:g.116694477_116694479dup, NC_000009.12:g.116694476_116694479dup, NC_000009.12:g.116694475_116694479dup, NC_000009.12:g.116694474_116694479dup, NC_000009.12:g.116694473_116694479dup, NC_000009.12:g.116694472_116694479dup, NC_000009.12:g.116694471_116694479dup, NC_000009.12:g.116694470_116694479dup, NC_000009.12:g.116694469_116694479dup, NC_000009.12:g.116694468_116694479dup, NC_000009.12:g.116694467_116694479dup, NC_000009.12:g.116694466_116694479dup, NC_000009.12:g.116694479_116694480insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.119456747_119456758del, NC_000009.11:g.119456748_119456758del, NC_000009.11:g.119456749_119456758del, NC_000009.11:g.119456750_119456758del, NC_000009.11:g.119456752_119456758del, NC_000009.11:g.119456753_119456758del, NC_000009.11:g.119456755_119456758del, NC_000009.11:g.119456756_119456758del, NC_000009.11:g.119456757_119456758del, NC_000009.11:g.119456758del, NC_000009.11:g.119456758dup, NC_000009.11:g.119456757_119456758dup, NC_000009.11:g.119456756_119456758dup, NC_000009.11:g.119456755_119456758dup, NC_000009.11:g.119456754_119456758dup, NC_000009.11:g.119456753_119456758dup, NC_000009.11:g.119456752_119456758dup, NC_000009.11:g.119456751_119456758dup, NC_000009.11:g.119456750_119456758dup, NC_000009.11:g.119456749_119456758dup, NC_000009.11:g.119456748_119456758dup, NC_000009.11:g.119456747_119456758dup, NC_000009.11:g.119456746_119456758dup, NC_000009.11:g.119456745_119456758dup, NC_000009.11:g.119456758_119456759insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021409.2:g.725587_725598del, NG_021409.2:g.725588_725598del, NG_021409.2:g.725589_725598del, NG_021409.2:g.725590_725598del, NG_021409.2:g.725592_725598del, NG_021409.2:g.725593_725598del, NG_021409.2:g.725595_725598del, NG_021409.2:g.725596_725598del, NG_021409.2:g.725597_725598del, NG_021409.2:g.725598del, NG_021409.2:g.725598dup, NG_021409.2:g.725597_725598dup, NG_021409.2:g.725596_725598dup, NG_021409.2:g.725595_725598dup, NG_021409.2:g.725594_725598dup, NG_021409.2:g.725593_725598dup, NG_021409.2:g.725592_725598dup, NG_021409.2:g.725591_725598dup, NG_021409.2:g.725590_725598dup, NG_021409.2:g.725589_725598dup, NG_021409.2:g.725588_725598dup, NG_021409.2:g.725587_725598dup, NG_021409.2:g.725586_725598dup, NG_021409.2:g.725585_725598dup, NG_021409.2:g.725598_725599insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011619.1:g.12167_12178del, NG_011619.1:g.12168_12178del, NG_011619.1:g.12169_12178del, NG_011619.1:g.12170_12178del, NG_011619.1:g.12172_12178del, NG_011619.1:g.12173_12178del, NG_011619.1:g.12175_12178del, NG_011619.1:g.12176_12178del, NG_011619.1:g.12177_12178del, NG_011619.1:g.12178del, NG_011619.1:g.12178dup, NG_011619.1:g.12177_12178dup, NG_011619.1:g.12176_12178dup, NG_011619.1:g.12175_12178dup, NG_011619.1:g.12174_12178dup, NG_011619.1:g.12173_12178dup, NG_011619.1:g.12172_12178dup, NG_011619.1:g.12171_12178dup, NG_011619.1:g.12170_12178dup, NG_011619.1:g.12169_12178dup, NG_011619.1:g.12168_12178dup, NG_011619.1:g.12167_12178dup, NG_011619.1:g.12166_12178dup, NG_011619.1:g.12165_12178dup, NG_011619.1:g.12178_12179insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14906718954.

rs1490671895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:116688726 (GRCh38)
9:119451005 (GRCh37)
Canonical SPDI:: NC_000009.12:116688725:C:G
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.116688726C>G, NC_000009.11:g.119451005C>G, NG_021409.2:g.731332G>C, NG_011619.1:g.6425C>G

Select item 14906511905.

rs1490651190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:116687705 (GRCh38)
9:119449984 (GRCh37)
Canonical SPDI:: NC_000009.12:116687704:T:C
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.116687705T>C, NC_000009.11:g.119449984T>C, NG_021409.2:g.732353A>G, NG_011619.1:g.5404T>C

Select item 14902427656.

rs1490242765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:116698643 (GRCh38)
9:119460922 (GRCh37)
Canonical SPDI:: NC_000009.12:116698642:G:A
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000009.12:g.116698643G>A, NC_000009.11:g.119460922G>A, NG_021409.2:g.721415C>T, NG_011619.1:g.16342G>A, NM_012210.4:c.901G>A, NM_012210.3:c.901G>A, NM_001099679.2:c.901G>A, NM_001099679.1:c.901G>A, NM_001379048.1:c.901G>A, NM_001379049.1:c.901G>A, NM_001379050.1:c.901G>A, NP_036342.2:p.Val301Ile, NP_001093149.1:p.Val301Ile, NP_001365977.1:p.Val301Ile, NP_001365978.1:p.Val301Ile, NP_001365979.1:p.Val301Ile

Select item 14897282187.

rs1489728218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:116686807 (GRCh38)
9:119449086 (GRCh37)
Canonical SPDI:: NC_000009.12:116686806:G:C
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.116686807G>C, NC_000009.11:g.119449086G>C, NG_021409.2:g.733251C>G, NM_198186.3:c.-2C>G, NG_011619.1:g.4506G>C

Select item 14890173538.

rs1489017353 has merged into rs11340280 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:116694637 (GRCh38)
9:119456916 (GRCh37)
Canonical SPDI:: NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.365/1828 (1000Genomes)
HGVS:: NC_000009.12:g.116694637_116694644del, NC_000009.12:g.116694642_116694644del, NC_000009.12:g.116694643_116694644del, NC_000009.12:g.116694644del, NC_000009.12:g.116694644dup, NC_000009.12:g.116694643_116694644dup, NC_000009.12:g.116694640_116694644dup, NC_000009.11:g.119456916_119456923del, NC_000009.11:g.119456921_119456923del, NC_000009.11:g.119456922_119456923del, NC_000009.11:g.119456923del, NC_000009.11:g.119456923dup, NC_000009.11:g.119456922_119456923dup, NC_000009.11:g.119456919_119456923dup, NG_021409.2:g.725423_725430del, NG_021409.2:g.725428_725430del, NG_021409.2:g.725429_725430del, NG_021409.2:g.725430del, NG_021409.2:g.725430dup, NG_021409.2:g.725429_725430dup, NG_021409.2:g.725426_725430dup, NG_011619.1:g.12336_12343del, NG_011619.1:g.12341_12343del, NG_011619.1:g.12342_12343del, NG_011619.1:g.12343del, NG_011619.1:g.12343dup, NG_011619.1:g.12342_12343dup, NG_011619.1:g.12339_12343dup

Select item 14884828539.

rs1488482853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:116695114 (GRCh38)
9:119457393 (GRCh37)
Canonical SPDI:: NC_000009.12:116695113:C:T
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.116695114C>T, NC_000009.11:g.119457393C>T, NG_021409.2:g.724944G>A, NG_011619.1:g.12813C>T

Select item 148841004710.

rs1488410047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:116689850 (GRCh38)
9:119452129 (GRCh37)
Canonical SPDI:: NC_000009.12:116689849:A:G
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.116689850A>G, NC_000009.11:g.119452129A>G, NG_021409.2:g.730208T>C, NG_011619.1:g.7549A>G

Select item 148803707611.

rs1488037076 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:116695100 (GRCh38)
9:119457379 (GRCh37)
Canonical SPDI:: NC_000009.12:116695099:T:
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.116695100del, NC_000009.11:g.119457379del, NG_021409.2:g.724958del, NG_011619.1:g.12799del

Select item 148785878512.

rs1487858785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:116695278 (GRCh38)
9:119457557 (GRCh37)
Canonical SPDI:: NC_000009.12:116695277:A:T
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.116695278A>T, NC_000009.11:g.119457557A>T, NG_021409.2:g.724780T>A, NG_011619.1:g.12977A>T

Select item 148780924513.

rs1487809245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:116696062 (GRCh38)
9:119458341 (GRCh37)
Canonical SPDI:: NC_000009.12:116696061:C:T
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.116696062C>T, NC_000009.11:g.119458341C>T, NG_021409.2:g.723996G>A, NG_011619.1:g.13761C>T

Select item 148753238414.

rs1487532384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:116694958 (GRCh38)
9:119457237 (GRCh37)
Canonical SPDI:: NC_000009.12:116694957:T:C
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.116694958T>C, NC_000009.11:g.119457237T>C, NG_021409.2:g.725100A>G, NG_011619.1:g.12657T>C

Select item 148729411515.

rs1487294115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:116698277 (GRCh38)
9:119460556 (GRCh37)
Canonical SPDI:: NC_000009.12:116698276:G:C
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.116698277G>C, NC_000009.11:g.119460556G>C, NG_021409.2:g.721781C>G, NG_011619.1:g.15976G>C, NM_012210.4:c.535G>C, NM_012210.3:c.535G>C, NM_001099679.2:c.535G>C, NM_001099679.1:c.535G>C, NM_001379048.1:c.535G>C, NM_001379049.1:c.535G>C, NM_001379050.1:c.535G>C, NP_036342.2:p.Ala179Pro, NP_001093149.1:p.Ala179Pro, NP_001365977.1:p.Ala179Pro, NP_001365978.1:p.Ala179Pro, NP_001365979.1:p.Ala179Pro

Select item 148720462616.

rs1487204626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:116686678 (GRCh38)
9:119448957 (GRCh37)
Canonical SPDI:: NC_000009.12:116686677:G:A,NC_000009.12:116686677:G:C
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.116686678G>A, NC_000009.12:g.116686678G>C, NC_000009.11:g.119448957G>A, NC_000009.11:g.119448957G>C, NG_021409.2:g.733380C>T, NG_021409.2:g.733380C>G, NG_011619.1:g.4377G>A, NG_011619.1:g.4377G>C

Select item 148702829217.

rs1487028292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:116700592 (GRCh38)
9:119462871 (GRCh37)
Canonical SPDI:: NC_000009.12:116700591:G:A
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.116700592G>A, NC_000009.11:g.119462871G>A, NG_021409.2:g.719466C>T, NG_011619.1:g.18291G>A, NM_012210.4:c.*888G>A, NM_012210.3:c.*888G>A, NM_001099679.2:c.*888G>A, NM_001099679.1:c.*888G>A, NM_001379048.1:c.*888G>A, NM_001379049.1:c.*888G>A, NM_001379050.1:c.*888G>A

Select item 148687806918.

rs1486878069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:116696581 (GRCh38)
9:119458860 (GRCh37)
Canonical SPDI:: NC_000009.12:116696580:C:A
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.116696581C>A, NC_000009.11:g.119458860C>A, NG_021409.2:g.723477G>T, NG_011619.1:g.14280C>A

Select item 148673838119.

rs1486738381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:116693261 (GRCh38)
9:119455540 (GRCh37)
Canonical SPDI:: NC_000009.12:116693260:C:T
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.116693261C>T, NC_000009.11:g.119455540C>T, NG_021409.2:g.726797G>A, NG_011619.1:g.10960C>T

Select item 148668665820.

rs1486686658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:116691993 (GRCh38)
9:119454272 (GRCh37)
Canonical SPDI:: NC_000009.12:116691992:G:A
Gene:: TRIM32 (Varview), ASTN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.116691993G>A, NC_000009.11:g.119454272G>A, NG_021409.2:g.728065C>T, NG_011619.1:g.9692G>A

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