SNP Links for Gene (Select 23321) - SNP

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Select item 14915838361.

rs1491583836 [Homo sapiens]

Variant type:: SNV:
Alleles:: CA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915581492.

rs1491558149 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAGA [Show Flanks]
Chromosome:: 4:153275827 (GRCh38)
4:154196980 (GRCh37)
Canonical SPDI:: NC_000004.12:153275827::GAGA
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGA=0./0 (ALFA)
GAGA=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.153275827_153275828insGAGA, NC_000004.11:g.154196979_154196980insGAGA, NG_041788.1:g.127710_127711insGAGA

Select item 14915538353.

rs1491553835 has merged into rs77308682 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: 4:153243825 (GRCh38)
4:154164977 (GRCh37)
Canonical SPDI:: NC_000004.12:153243818:CCCCCCCCCC:CCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000004.12:153243818:CCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.0632/34 (NorthernSweden)
-=0.1/4 (GENOME_DK)
-=0.1458/730 (1000Genomes)
HGVS:: NC_000004.12:g.153243825_153243828del, NC_000004.12:g.153243826_153243828del, NC_000004.12:g.153243827_153243828del, NC_000004.12:g.153243828del, NC_000004.12:g.153243828dup, NC_000004.12:g.153243827_153243828dup, NC_000004.12:g.153243826_153243828dup, NC_000004.12:g.153243825_153243828dup, NC_000004.12:g.153243824_153243828dup, NC_000004.11:g.154164977_154164980del, NC_000004.11:g.154164978_154164980del, NC_000004.11:g.154164979_154164980del, NC_000004.11:g.154164980del, NC_000004.11:g.154164980dup, NC_000004.11:g.154164979_154164980dup, NC_000004.11:g.154164978_154164980dup, NC_000004.11:g.154164977_154164980dup, NC_000004.11:g.154164976_154164980dup, NG_041788.1:g.95708_95711del, NG_041788.1:g.95709_95711del, NG_041788.1:g.95710_95711del, NG_041788.1:g.95711del, NG_041788.1:g.95711dup, NG_041788.1:g.95710_95711dup, NG_041788.1:g.95709_95711dup, NG_041788.1:g.95708_95711dup, NG_041788.1:g.95707_95711dup

Select item 14915498194.

rs1491549819 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:153172141 (GRCh38)
4:154093293 (GRCh37)
Canonical SPDI:: NC_000004.12:153172140:AT:
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00044/12 (GnomAD)
HGVS:: NC_000004.12:g.153172141_153172142del, NC_000004.11:g.154093293_154093294del, NG_041788.1:g.24024_24025del

Select item 14915436145.

rs1491543614 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:153163496 (GRCh38)
4:154084649 (GRCh37)
Canonical SPDI:: NC_000004.12:153163496::A
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.00016/7 (GnomAD)
HGVS:: NC_000004.12:g.153163496_153163497insA, NC_000004.11:g.154084648_154084649insA, NG_041788.1:g.15379_15380insA

Select item 14915261256.

rs1491526125 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:153314419 (GRCh38)
4:154235571 (GRCh37)
Canonical SPDI:: NC_000004.12:153314418:CA:
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.153314419_153314420del, NC_000004.11:g.154235571_154235572del, NG_041788.1:g.166302_166303del

Select item 14915258587.

rs1491525858 has merged into rs369342093 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 4:153336143 (GRCh38)
4:154257295 (GRCh37)
Canonical SPDI:: NC_000004.12:153336133:ACACACACACA:ACACACACA,NC_000004.12:153336133:ACACACACACA:ACACACACACACA
Gene:: TRIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0.00005/1 (ALFA)
AC=0.025/1 (GENOME_DK)
AC=0.11839/439 (TWINSUK)
AC=0.11936/460 (ALSPAC)
HGVS:: NC_000004.12:g.153336135CA[4], NC_000004.12:g.153336135CA[6], NC_000004.11:g.154257287CA[4], NC_000004.11:g.154257287CA[6], NG_041788.1:g.188018CA[4], NG_041788.1:g.188018CA[6], NM_015271.5:c.*1169CA[4], NM_015271.5:c.*1169CA[6], NM_015271.4:c.*1169CA[4], NM_015271.4:c.*1169CA[6], NM_015271.3:c.*1169CA[4], NM_015271.3:c.*1169CA[6], NM_001351056.2:c.*1169CA[4], NM_001351056.2:c.*1169CA[6], NM_001351056.1:c.*1169CA[4], NM_001351056.1:c.*1169CA[6], NM_001351054.2:c.*1169CA[4], NM_001351054.2:c.*1169CA[6], NM_001351054.1:c.*1169CA[4], NM_001351054.1:c.*1169CA[6], NM_001351055.2:c.*1169CA[4], NM_001351055.2:c.*1169CA[6], NM_001351055.1:c.*1169CA[4], NM_001351055.1:c.*1169CA[6], NM_001351057.2:c.*1169CA[4], NM_001351057.2:c.*1169CA[6], NM_001351057.1:c.*1169CA[4], NM_001351057.1:c.*1169CA[6], NM_001130067.2:c.*1169CA[4], NM_001130067.2:c.*1169CA[6], NM_001130067.1:c.*1169CA[4], NM_001130067.1:c.*1169CA[6], NM_001375512.1:c.*1169CA[4], NM_001375512.1:c.*1169CA[6], NM_001375514.1:c.*1169CA[4], NM_001375514.1:c.*1169CA[6], NM_001375513.1:c.*1169CA[4], NM_001375513.1:c.*1169CA[6], NM_001375488.1:c.*1169CA[4], NM_001375488.1:c.*1169CA[6], NM_001375489.1:c.*1169CA[4], NM_001375489.1:c.*1169CA[6], NM_001375516.1:c.*1169CA[4], NM_001375516.1:c.*1169CA[6], NM_001375515.1:c.*1169CA[4], NM_001375515.1:c.*1169CA[6], NM_001375517.1:c.*1169CA[4], NM_001375517.1:c.*1169CA[6], NM_001375523.1:c.*1169CA[4], NM_001375523.1:c.*1169CA[6], NM_001375522.1:c.*1169CA[4], NM_001375522.1:c.*1169CA[6], NM_001375490.1:c.*1169CA[4], NM_001375490.1:c.*1169CA[6], NM_001375491.1:c.*1169CA[4], NM_001375491.1:c.*1169CA[6], NM_001375525.1:c.*1169CA[4], NM_001375525.1:c.*1169CA[6], NM_001375519.1:c.*1169CA[4], NM_001375519.1:c.*1169CA[6], NM_001375520.1:c.*1169CA[4], NM_001375520.1:c.*1169CA[6], XM_006714165.4:c.*1169CA[4], XM_006714165.4:c.*1169CA[6], XM_006714165.3:c.*1169CA[4], XM_006714165.3:c.*1169CA[6], XM_006714165.2:c.*1169CA[4], XM_006714165.2:c.*1169CA[6], XM_006714165.1:c.*1169CA[4], XM_006714165.1:c.*1169CA[6], XM_011531796.4:c.*1169CA[4], XM_011531796.4:c.*1169CA[6], XM_011531796.3:c.*1169CA[4], XM_011531796.3:c.*1169CA[6], XM_011531796.2:c.*1169CA[4], XM_011531796.2:c.*1169CA[6], XM_011531796.1:c.*1169CA[4], XM_011531796.1:c.*1169CA[6], XM_017007948.3:c.*1169CA[4], XM_017007948.3:c.*1169CA[6], XM_017007948.2:c.*1169CA[4], XM_017007948.2:c.*1169CA[6], XM_017007948.1:c.*1169CA[4], XM_017007948.1:c.*1169CA[6], XM_017007953.3:c.*1169CA[4], XM_017007953.3:c.*1169CA[6], XM_017007953.2:c.*1169CA[4], XM_017007953.2:c.*1169CA[6], XM_017007953.1:c.*1169CA[4], XM_017007953.1:c.*1169CA[6], XM_006714157.2:c.*1169CA[4], XM_006714157.2:c.*1169CA[6], XM_006714157.1:c.*1169CA[4], XM_006714157.1:c.*1169CA[6], XM_006714158.2:c.*1169CA[4], XM_006714158.2:c.*1169CA[6], XM_006714158.1:c.*1169CA[4], XM_006714158.1:c.*1169CA[6], XM_017007943.2:c.*1169CA[4], XM_017007943.2:c.*1169CA[6], XM_017007943.1:c.*1169CA[4], XM_017007943.1:c.*1169CA[6], XM_047449949.1:c.*1169CA[4], XM_047449949.1:c.*1169CA[6], XM_047449952.1:c.*1169CA[4], XM_047449952.1:c.*1169CA[6], XM_047449951.1:c.*1169CA[4], XM_047449951.1:c.*1169CA[6], XM_047449953.1:c.*1169CA[4], XM_047449953.1:c.*1169CA[6], XM_047449954.1:c.*1169CA[4], XM_047449954.1:c.*1169CA[6]

Select item 14915199068.

rs1491519906 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:153243825 (GRCh38)
4:154164978 (GRCh37)
Canonical SPDI:: NC_000004.12:153243825::G
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000506/6 (ALFA)
G=0.001083/126 (GnomAD)
G=0.001405/9 (1000Genomes)
HGVS:: NC_000004.12:g.153243825_153243826insG, NC_000004.11:g.154164977_154164978insG, NG_041788.1:g.95708_95709insG

Select item 14915163389.

rs1491516338 has merged into rs71598263 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 4:153338962 (GRCh38)
4:154260114 (GRCh37)
Canonical SPDI:: NC_000004.12:153338953:TTTTTTTTTTTT:TTTTTTTT,NC_000004.12:153338953:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:153338953:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:153338953:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:153338953:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:153338953:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: TRIM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.2/8 (GENOME_DK)
T=0.214657/1075 (1000Genomes)
T=0.215478/57035 (TOPMED)
HGVS:: NC_000004.12:g.153338962_153338965del, NC_000004.12:g.153338964_153338965del, NC_000004.12:g.153338965del, NC_000004.12:g.153338965dup, NC_000004.12:g.153338964_153338965dup, NC_000004.12:g.153338963_153338965dup, NC_000004.11:g.154260114_154260117del, NC_000004.11:g.154260116_154260117del, NC_000004.11:g.154260117del, NC_000004.11:g.154260117dup, NC_000004.11:g.154260116_154260117dup, NC_000004.11:g.154260115_154260117dup, NG_041788.1:g.190845_190848del, NG_041788.1:g.190847_190848del, NG_041788.1:g.190848del, NG_041788.1:g.190848dup, NG_041788.1:g.190847_190848dup, NG_041788.1:g.190846_190848dup, NM_015271.5:c.*3996_*3999del, NM_015271.5:c.*3998_*3999del, NM_015271.5:c.*3999del, NM_015271.5:c.*3999dup, NM_015271.5:c.*3998_*3999dup, NM_015271.5:c.*3997_*3999dup, NM_015271.4:c.*3996_*3999del, NM_015271.4:c.*3998_*3999del, NM_015271.4:c.*3999del, NM_015271.4:c.*3999dup, NM_015271.4:c.*3998_*3999dup, NM_015271.4:c.*3997_*3999dup, NM_015271.3:c.*3996_*3999del, NM_015271.3:c.*3998_*3999del, NM_015271.3:c.*3999del, NM_015271.3:c.*3999dup, NM_015271.3:c.*3998_*3999dup, NM_015271.3:c.*3997_*3999dup, NM_001351056.2:c.*3996_*3999del, NM_001351056.2:c.*3998_*3999del, NM_001351056.2:c.*3999del, NM_001351056.2:c.*3999dup, NM_001351056.2:c.*3998_*3999dup, NM_001351056.2:c.*3997_*3999dup, NM_001351056.1:c.*3996_*3999del, NM_001351056.1:c.*3998_*3999del, NM_001351056.1:c.*3999del, NM_001351056.1:c.*3999dup, NM_001351056.1:c.*3998_*3999dup, NM_001351056.1:c.*3997_*3999dup, NM_001351054.2:c.*3996_*3999del, NM_001351054.2:c.*3998_*3999del, NM_001351054.2:c.*3999del, NM_001351054.2:c.*3999dup, NM_001351054.2:c.*3998_*3999dup, NM_001351054.2:c.*3997_*3999dup, NM_001351054.1:c.*3996_*3999del, NM_001351054.1:c.*3998_*3999del, NM_001351054.1:c.*3999del, NM_001351054.1:c.*3999dup, NM_001351054.1:c.*3998_*3999dup, NM_001351054.1:c.*3997_*3999dup, NM_001351055.2:c.*3996_*3999del, NM_001351055.2:c.*3998_*3999del, NM_001351055.2:c.*3999del, NM_001351055.2:c.*3999dup, NM_001351055.2:c.*3998_*3999dup, NM_001351055.2:c.*3997_*3999dup, NM_001351055.1:c.*3996_*3999del, NM_001351055.1:c.*3998_*3999del, NM_001351055.1:c.*3999del, NM_001351055.1:c.*3999dup, NM_001351055.1:c.*3998_*3999dup, NM_001351055.1:c.*3997_*3999dup, NM_001351057.2:c.*3996_*3999del, NM_001351057.2:c.*3998_*3999del, NM_001351057.2:c.*3999del, NM_001351057.2:c.*3999dup, NM_001351057.2:c.*3998_*3999dup, NM_001351057.2:c.*3997_*3999dup, NM_001351057.1:c.*3996_*3999del, NM_001351057.1:c.*3998_*3999del, NM_001351057.1:c.*3999del, NM_001351057.1:c.*3999dup, NM_001351057.1:c.*3998_*3999dup, NM_001351057.1:c.*3997_*3999dup, NM_001130067.2:c.*3996_*3999del, NM_001130067.2:c.*3998_*3999del, NM_001130067.2:c.*3999del, NM_001130067.2:c.*3999dup, NM_001130067.2:c.*3998_*3999dup, NM_001130067.2:c.*3997_*3999dup, NM_001130067.1:c.*3996_*3999del, NM_001130067.1:c.*3998_*3999del, NM_001130067.1:c.*3999del, NM_001130067.1:c.*3999dup, NM_001130067.1:c.*3998_*3999dup, NM_001130067.1:c.*3997_*3999dup, NM_001375512.1:c.*3996_*3999del, NM_001375512.1:c.*3998_*3999del, NM_001375512.1:c.*3999del, NM_001375512.1:c.*3999dup, NM_001375512.1:c.*3998_*3999dup, NM_001375512.1:c.*3997_*3999dup, NM_001375514.1:c.*3996_*3999del, NM_001375514.1:c.*3998_*3999del, NM_001375514.1:c.*3999del, NM_001375514.1:c.*3999dup, NM_001375514.1:c.*3998_*3999dup, NM_001375514.1:c.*3997_*3999dup, NM_001375513.1:c.*3996_*3999del, NM_001375513.1:c.*3998_*3999del, NM_001375513.1:c.*3999del, NM_001375513.1:c.*3999dup, NM_001375513.1:c.*3998_*3999dup, NM_001375513.1:c.*3997_*3999dup, NM_001375488.1:c.*3996_*3999del, NM_001375488.1:c.*3998_*3999del, NM_001375488.1:c.*3999del, NM_001375488.1:c.*3999dup, NM_001375488.1:c.*3998_*3999dup, NM_001375488.1:c.*3997_*3999dup, NM_001375489.1:c.*3996_*3999del, NM_001375489.1:c.*3998_*3999del, NM_001375489.1:c.*3999del, NM_001375489.1:c.*3999dup, NM_001375489.1:c.*3998_*3999dup, NM_001375489.1:c.*3997_*3999dup, NM_001375516.1:c.*3996_*3999del, NM_001375516.1:c.*3998_*3999del, NM_001375516.1:c.*3999del, NM_001375516.1:c.*3999dup, NM_001375516.1:c.*3998_*3999dup, NM_001375516.1:c.*3997_*3999dup, NM_001375515.1:c.*3996_*3999del, NM_001375515.1:c.*3998_*3999del, NM_001375515.1:c.*3999del, NM_001375515.1:c.*3999dup, NM_001375515.1:c.*3998_*3999dup, NM_001375515.1:c.*3997_*3999dup, NM_001375517.1:c.*3996_*3999del, NM_001375517.1:c.*3998_*3999del, NM_001375517.1:c.*3999del, NM_001375517.1:c.*3999dup, NM_001375517.1:c.*3998_*3999dup, NM_001375517.1:c.*3997_*3999dup, NM_001375523.1:c.*3996_*3999del, NM_001375523.1:c.*3998_*3999del, NM_001375523.1:c.*3999del, NM_001375523.1:c.*3999dup, NM_001375523.1:c.*3998_*3999dup, NM_001375523.1:c.*3997_*3999dup, NM_001375522.1:c.*3996_*3999del, NM_001375522.1:c.*3998_*3999del, NM_001375522.1:c.*3999del, NM_001375522.1:c.*3999dup, NM_001375522.1:c.*3998_*3999dup, NM_001375522.1:c.*3997_*3999dup, NM_001375490.1:c.*3996_*3999del, NM_001375490.1:c.*3998_*3999del, NM_001375490.1:c.*3999del, NM_001375490.1:c.*3999dup, NM_001375490.1:c.*3998_*3999dup, NM_001375490.1:c.*3997_*3999dup, NM_001375491.1:c.*3996_*3999del, NM_001375491.1:c.*3998_*3999del, NM_001375491.1:c.*3999del, NM_001375491.1:c.*3999dup, NM_001375491.1:c.*3998_*3999dup, NM_001375491.1:c.*3997_*3999dup, NM_001375525.1:c.*3996_*3999del, NM_001375525.1:c.*3998_*3999del, NM_001375525.1:c.*3999del, NM_001375525.1:c.*3999dup, NM_001375525.1:c.*3998_*3999dup, NM_001375525.1:c.*3997_*3999dup, NM_001375519.1:c.*3996_*3999del, NM_001375519.1:c.*3998_*3999del, NM_001375519.1:c.*3999del, NM_001375519.1:c.*3999dup, NM_001375519.1:c.*3998_*3999dup, NM_001375519.1:c.*3997_*3999dup, NM_001375520.1:c.*3996_*3999del, NM_001375520.1:c.*3998_*3999del, NM_001375520.1:c.*3999del, NM_001375520.1:c.*3999dup, NM_001375520.1:c.*3998_*3999dup, NM_001375520.1:c.*3997_*3999dup, XM_006714165.4:c.*3996_*3999del, XM_006714165.4:c.*3998_*3999del, XM_006714165.4:c.*3999del, XM_006714165.4:c.*3999dup, XM_006714165.4:c.*3998_*3999dup, XM_006714165.4:c.*3997_*3999dup, XM_006714165.3:c.*3996_*3999del, XM_006714165.3:c.*3998_*3999del, XM_006714165.3:c.*3999del, XM_006714165.3:c.*3999dup, XM_006714165.3:c.*3998_*3999dup, XM_006714165.3:c.*3997_*3999dup, XM_006714165.2:c.*3996_*3999del, XM_006714165.2:c.*3998_*3999del, XM_006714165.2:c.*3999del, XM_006714165.2:c.*3999dup, XM_006714165.2:c.*3998_*3999dup, XM_006714165.2:c.*3997_*3999dup, XM_006714165.1:c.*3996_*3999del, XM_006714165.1:c.*3998_*3999del, XM_006714165.1:c.*3999del, XM_006714165.1:c.*3999dup, XM_006714165.1:c.*3998_*3999dup, XM_006714165.1:c.*3997_*3999dup, XM_011531796.4:c.*3996_*3999del, XM_011531796.4:c.*3998_*3999del, XM_011531796.4:c.*3999del, XM_011531796.4:c.*3999dup, XM_011531796.4:c.*3998_*3999dup, XM_011531796.4:c.*3997_*3999dup, XM_011531796.3:c.*3996_*3999del, XM_011531796.3:c.*3998_*3999del, XM_011531796.3:c.*3999del, XM_011531796.3:c.*3999dup, XM_011531796.3:c.*3998_*3999dup, XM_011531796.3:c.*3997_*3999dup, XM_011531796.2:c.*3996_*3999del, XM_011531796.2:c.*3998_*3999del, XM_011531796.2:c.*3999del, XM_011531796.2:c.*3999dup, XM_011531796.2:c.*3998_*3999dup, XM_011531796.2:c.*3997_*3999dup, XM_011531796.1:c.*3996_*3999del, XM_011531796.1:c.*3998_*3999del, XM_011531796.1:c.*3999del, XM_011531796.1:c.*3999dup, XM_011531796.1:c.*3998_*3999dup, XM_011531796.1:c.*3997_*3999dup, XM_017007948.3:c.*3996_*3999del, XM_017007948.3:c.*3998_*3999del, XM_017007948.3:c.*3999del, XM_017007948.3:c.*3999dup, XM_017007948.3:c.*3998_*3999dup, XM_017007948.3:c.*3997_*3999dup, XM_017007948.2:c.*3996_*3999del, XM_017007948.2:c.*3998_*3999del, XM_017007948.2:c.*3999del, XM_017007948.2:c.*3999dup, XM_017007948.2:c.*3998_*3999dup, XM_017007948.2:c.*3997_*3999dup, XM_017007948.1:c.*3996_*3999del, XM_017007948.1:c.*3998_*3999del, XM_017007948.1:c.*3999del, XM_017007948.1:c.*3999dup, XM_017007948.1:c.*3998_*3999dup, XM_017007948.1:c.*3997_*3999dup, XM_017007953.3:c.*3996_*3999del, XM_017007953.3:c.*3998_*3999del, XM_017007953.3:c.*3999del, XM_017007953.3:c.*3999dup, XM_017007953.3:c.*3998_*3999dup, XM_017007953.3:c.*3997_*3999dup, XM_017007953.2:c.*3996_*3999del, XM_017007953.2:c.*3998_*3999del, XM_017007953.2:c.*3999del, XM_017007953.2:c.*3999dup, XM_017007953.2:c.*3998_*3999dup, XM_017007953.2:c.*3997_*3999dup, XM_017007953.1:c.*3996_*3999del, XM_017007953.1:c.*3998_*3999del, XM_017007953.1:c.*3999del, XM_017007953.1:c.*3999dup, XM_017007953.1:c.*3998_*3999dup, XM_017007953.1:c.*3997_*3999dup, XM_006714157.2:c.*3996_*3999del, XM_006714157.2:c.*3998_*3999del, XM_006714157.2:c.*3999del, XM_006714157.2:c.*3999dup, XM_006714157.2:c.*3998_*3999dup, XM_006714157.2:c.*3997_*3999dup, XM_006714157.1:c.*3996_*3999del, XM_006714157.1:c.*3998_*3999del, XM_006714157.1:c.*3999del, XM_006714157.1:c.*3999dup, XM_006714157.1:c.*3998_*3999dup, XM_006714157.1:c.*3997_*3999dup, XM_006714158.2:c.*3996_*3999del, XM_006714158.2:c.*3998_*3999del, XM_006714158.2:c.*3999del, XM_006714158.2:c.*3999dup, XM_006714158.2:c.*3998_*3999dup, XM_006714158.2:c.*3997_*3999dup, XM_006714158.1:c.*3996_*3999del, XM_006714158.1:c.*3998_*3999del, XM_006714158.1:c.*3999del, XM_006714158.1:c.*3999dup, XM_006714158.1:c.*3998_*3999dup, XM_006714158.1:c.*3997_*3999dup, XM_017007943.2:c.*3996_*3999del, XM_017007943.2:c.*3998_*3999del, XM_017007943.2:c.*3999del, XM_017007943.2:c.*3999dup, XM_017007943.2:c.*3998_*3999dup, XM_017007943.2:c.*3997_*3999dup, XM_017007943.1:c.*3996_*3999del, XM_017007943.1:c.*3998_*3999del, XM_017007943.1:c.*3999del, XM_017007943.1:c.*3999dup, XM_017007943.1:c.*3998_*3999dup, XM_017007943.1:c.*3997_*3999dup, XM_047449949.1:c.*3996_*3999del, XM_047449949.1:c.*3998_*3999del, XM_047449949.1:c.*3999del, XM_047449949.1:c.*3999dup, XM_047449949.1:c.*3998_*3999dup, XM_047449949.1:c.*3997_*3999dup, XM_047449952.1:c.*3996_*3999del, XM_047449952.1:c.*3998_*3999del, XM_047449952.1:c.*3999del, XM_047449952.1:c.*3999dup, XM_047449952.1:c.*3998_*3999dup, XM_047449952.1:c.*3997_*3999dup, XM_047449951.1:c.*3996_*3999del, XM_047449951.1:c.*3998_*3999del, XM_047449951.1:c.*3999del, XM_047449951.1:c.*3999dup, XM_047449951.1:c.*3998_*3999dup, XM_047449951.1:c.*3997_*3999dup, XM_047449953.1:c.*3996_*3999del, XM_047449953.1:c.*3998_*3999del, XM_047449953.1:c.*3999del, XM_047449953.1:c.*3999dup, XM_047449953.1:c.*3998_*3999dup, XM_047449953.1:c.*3997_*3999dup, XM_047449954.1:c.*3996_*3999del, XM_047449954.1:c.*3998_*3999del, XM_047449954.1:c.*3999del, XM_047449954.1:c.*3999dup, XM_047449954.1:c.*3998_*3999dup, XM_047449954.1:c.*3997_*3999dup

Select item 149150864910.

rs1491508649 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:153326979 (GRCh38)
4:154248131 (GRCh37)
Canonical SPDI:: NC_000004.12:153326978:CA:
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000004.12:g.153326979_153326980del, NC_000004.11:g.154248131_154248132del, NG_041788.1:g.178862_178863del

Select item 149150539311.

rs1491505393 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:153239351 (GRCh38)
4:154160503 (GRCh37)
Canonical SPDI:: NC_000004.12:153239350:CA:
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/4 (ALFA)
HGVS:: NC_000004.12:g.153239351_153239352del, NC_000004.11:g.154160503_154160504del, NG_041788.1:g.91234_91235del

Select item 149147989112.

rs1491479891 has merged into rs1553961390 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 4:153196286 (GRCh38)
4:154117438 (GRCh37)
Canonical SPDI:: NC_000004.12:153196271:CACACACACACACACACA:CACACACACACACA,NC_000004.12:153196271:CACACACACACACACACA:CACACACACACACACA,NC_000004.12:153196271:CACACACACACACACACA:CACACACACACACACACACA,NC_000004.12:153196271:CACACACACACACACACA:CACACACACACACACACACACA
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
CA=0.00032/5 (TOMMO)
-=0.00437/8 (Korea1K)
HGVS:: NC_000004.12:g.153196272CA[7], NC_000004.12:g.153196272CA[8], NC_000004.12:g.153196272CA[10], NC_000004.12:g.153196272CA[11], NC_000004.11:g.154117424CA[7], NC_000004.11:g.154117424CA[8], NC_000004.11:g.154117424CA[10], NC_000004.11:g.154117424CA[11], NG_041788.1:g.48155CA[7], NG_041788.1:g.48155CA[8], NG_041788.1:g.48155CA[10], NG_041788.1:g.48155CA[11]

Select item 149147629313.

rs1491476293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:153275828 (GRCh38)
4:154196980 (GRCh37)
Canonical SPDI:: NC_000004.12:153275826:TAT:T
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.153275828_153275829del, NC_000004.11:g.154196980_154196981del, NG_041788.1:g.127711_127712del

Select item 149146874114.

rs1491468741 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:153196272 (GRCh38)
4:154117425 (GRCh37)
Canonical SPDI:: NC_000004.12:153196272::G
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000016/2 (GnomAD)
HGVS:: NC_000004.12:g.153196272_153196273insG, NC_000004.11:g.154117424_154117425insG, NG_041788.1:g.48155_48156insG

Select item 149145494215.

rs1491454942 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:153338953 (GRCh38)
4:154260105 (GRCh37)
Canonical SPDI:: NC_000004.12:153338952:GT:
Gene:: TRIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001686/20 (ALFA)
-=0.002778/342 (GnomAD)
-=0.004393/22 (1000Genomes)
HGVS:: NC_000004.12:g.153338953_153338954del, NC_000004.11:g.154260105_154260106del, NG_041788.1:g.190836_190837del, NM_015271.5:c.*3987_*3988del, NM_015271.4:c.*3987_*3988del, NM_015271.3:c.*3987_*3988del, NM_001351056.2:c.*3987_*3988del, NM_001351056.1:c.*3987_*3988del, NM_001351054.2:c.*3987_*3988del, NM_001351054.1:c.*3987_*3988del, NM_001351055.2:c.*3987_*3988del, NM_001351055.1:c.*3987_*3988del, NM_001351057.2:c.*3987_*3988del, NM_001351057.1:c.*3987_*3988del, NM_001130067.2:c.*3987_*3988del, NM_001130067.1:c.*3987_*3988del, NM_001375512.1:c.*3987_*3988del, NM_001375514.1:c.*3987_*3988del, NM_001375513.1:c.*3987_*3988del, NM_001375488.1:c.*3987_*3988del, NM_001375489.1:c.*3987_*3988del, NM_001375516.1:c.*3987_*3988del, NM_001375515.1:c.*3987_*3988del, NM_001375517.1:c.*3987_*3988del, NM_001375523.1:c.*3987_*3988del, NM_001375522.1:c.*3987_*3988del, NM_001375490.1:c.*3987_*3988del, NM_001375491.1:c.*3987_*3988del, NM_001375525.1:c.*3987_*3988del, NM_001375519.1:c.*3987_*3988del, NM_001375520.1:c.*3987_*3988del, XM_006714165.4:c.*3987_*3988del, XM_006714165.3:c.*3987_*3988del, XM_006714165.2:c.*3987_*3988del, XM_006714165.1:c.*3987_*3988del, XM_011531796.4:c.*3987_*3988del, XM_011531796.3:c.*3987_*3988del, XM_011531796.2:c.*3987_*3988del, XM_011531796.1:c.*3987_*3988del, XM_017007948.3:c.*3987_*3988del, XM_017007948.2:c.*3987_*3988del, XM_017007948.1:c.*3987_*3988del, XM_017007953.3:c.*3987_*3988del, XM_017007953.2:c.*3987_*3988del, XM_017007953.1:c.*3987_*3988del, XM_006714157.2:c.*3987_*3988del, XM_006714157.1:c.*3987_*3988del, XM_006714158.2:c.*3987_*3988del, XM_006714158.1:c.*3987_*3988del, XM_017007943.2:c.*3987_*3988del, XM_017007943.1:c.*3987_*3988del, XM_047449949.1:c.*3987_*3988del, XM_047449952.1:c.*3987_*3988del, XM_047449951.1:c.*3987_*3988del, XM_047449953.1:c.*3987_*3988del, XM_047449954.1:c.*3987_*3988del

Select item 149145491916.

rs1491454919 has merged into rs372940429 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:153239845 (GRCh38)
4:154160997 (GRCh37)
Canonical SPDI:: NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153239834:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.153239845_153239852del, NC_000004.12:g.153239846_153239852del, NC_000004.12:g.153239847_153239852del, NC_000004.12:g.153239849_153239852del, NC_000004.12:g.153239850_153239852del, NC_000004.12:g.153239851_153239852del, NC_000004.12:g.153239852del, NC_000004.12:g.153239852dup, NC_000004.12:g.153239851_153239852dup, NC_000004.12:g.153239850_153239852dup, NC_000004.12:g.153239849_153239852dup, NC_000004.12:g.153239848_153239852dup, NC_000004.12:g.153239847_153239852dup, NC_000004.12:g.153239846_153239852dup, NC_000004.12:g.153239845_153239852dup, NC_000004.12:g.153239844_153239852dup, NC_000004.12:g.153239843_153239852dup, NC_000004.12:g.153239841_153239852dup, NC_000004.12:g.153239839_153239852dup, NC_000004.11:g.154160997_154161004del, NC_000004.11:g.154160998_154161004del, NC_000004.11:g.154160999_154161004del, NC_000004.11:g.154161001_154161004del, NC_000004.11:g.154161002_154161004del, NC_000004.11:g.154161003_154161004del, NC_000004.11:g.154161004del, NC_000004.11:g.154161004dup, NC_000004.11:g.154161003_154161004dup, NC_000004.11:g.154161002_154161004dup, NC_000004.11:g.154161001_154161004dup, NC_000004.11:g.154161000_154161004dup, NC_000004.11:g.154160999_154161004dup, NC_000004.11:g.154160998_154161004dup, NC_000004.11:g.154160997_154161004dup, NC_000004.11:g.154160996_154161004dup, NC_000004.11:g.154160995_154161004dup, NC_000004.11:g.154160993_154161004dup, NC_000004.11:g.154160991_154161004dup, NG_041788.1:g.91728_91735del, NG_041788.1:g.91729_91735del, NG_041788.1:g.91730_91735del, NG_041788.1:g.91732_91735del, NG_041788.1:g.91733_91735del, NG_041788.1:g.91734_91735del, NG_041788.1:g.91735del, NG_041788.1:g.91735dup, NG_041788.1:g.91734_91735dup, NG_041788.1:g.91733_91735dup, NG_041788.1:g.91732_91735dup, NG_041788.1:g.91731_91735dup, NG_041788.1:g.91730_91735dup, NG_041788.1:g.91729_91735dup, NG_041788.1:g.91728_91735dup, NG_041788.1:g.91727_91735dup, NG_041788.1:g.91726_91735dup, NG_041788.1:g.91724_91735dup, NG_041788.1:g.91722_91735dup

Select item 149145370017.

rs1491453700 has merged into rs562158356 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 4:153303318 (GRCh38)
4:154224470 (GRCh37)
Canonical SPDI:: NC_000004.12:153303312:ATATATA:ATATA,NC_000004.12:153303312:ATATATA:ATATATATA
Gene:: TRIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0.000071/1 (ALFA)
-=0.000666/87 (GnomAD)
HGVS:: NC_000004.12:g.153303314TA[2], NC_000004.12:g.153303314TA[4], NC_000004.11:g.154224466TA[2], NC_000004.11:g.154224466TA[4], NG_041788.1:g.155197TA[2], NG_041788.1:g.155197TA[4]

Select item 149145075018.

rs1491450750 has merged into rs3048123 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:153279954 (GRCh38)
4:154201106 (GRCh37)
Canonical SPDI:: NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:153279942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TRIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3089/1547 (1000Genomes)
HGVS:: NC_000004.12:g.153279954_153279959del, NC_000004.12:g.153279955_153279959del, NC_000004.12:g.153279956_153279959del, NC_000004.12:g.153279957_153279959del, NC_000004.12:g.153279958_153279959del, NC_000004.12:g.153279959del, NC_000004.12:g.153279959dup, NC_000004.12:g.153279958_153279959dup, NC_000004.11:g.154201106_154201111del, NC_000004.11:g.154201107_154201111del, NC_000004.11:g.154201108_154201111del, NC_000004.11:g.154201109_154201111del, NC_000004.11:g.154201110_154201111del, NC_000004.11:g.154201111del, NC_000004.11:g.154201111dup, NC_000004.11:g.154201110_154201111dup, NG_041788.1:g.131837_131842del, NG_041788.1:g.131838_131842del, NG_041788.1:g.131839_131842del, NG_041788.1:g.131840_131842del, NG_041788.1:g.131841_131842del, NG_041788.1:g.131842del, NG_041788.1:g.131842dup, NG_041788.1:g.131841_131842dup

Select item 149142839819.

rs1491428398 has merged into rs70949644 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:153163507 (GRCh38)
4:154084659 (GRCh37)
Canonical SPDI:: NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:153163495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TT=0.077739/44 (NorthernSweden)
HGVS:: NC_000004.12:g.153163507_153163519del, NC_000004.12:g.153163508_153163519del, NC_000004.12:g.153163509_153163519del, NC_000004.12:g.153163510_153163519del, NC_000004.12:g.153163512_153163519del, NC_000004.12:g.153163513_153163519del, NC_000004.12:g.153163514_153163519del, NC_000004.12:g.153163515_153163519del, NC_000004.12:g.153163517_153163519del, NC_000004.12:g.153163518_153163519del, NC_000004.12:g.153163519del, NC_000004.12:g.153163519dup, NC_000004.12:g.153163518_153163519dup, NC_000004.12:g.153163517_153163519dup, NC_000004.12:g.153163516_153163519dup, NC_000004.12:g.153163515_153163519dup, NC_000004.12:g.153163514_153163519dup, NC_000004.12:g.153163513_153163519dup, NC_000004.12:g.153163512_153163519dup, NC_000004.12:g.153163511_153163519dup, NC_000004.12:g.153163508_153163519dup, NC_000004.12:g.153163519_153163520insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.154084659_154084671del, NC_000004.11:g.154084660_154084671del, NC_000004.11:g.154084661_154084671del, NC_000004.11:g.154084662_154084671del, NC_000004.11:g.154084664_154084671del, NC_000004.11:g.154084665_154084671del, NC_000004.11:g.154084666_154084671del, NC_000004.11:g.154084667_154084671del, NC_000004.11:g.154084669_154084671del, NC_000004.11:g.154084670_154084671del, NC_000004.11:g.154084671del, NC_000004.11:g.154084671dup, NC_000004.11:g.154084670_154084671dup, NC_000004.11:g.154084669_154084671dup, NC_000004.11:g.154084668_154084671dup, NC_000004.11:g.154084667_154084671dup, NC_000004.11:g.154084666_154084671dup, NC_000004.11:g.154084665_154084671dup, NC_000004.11:g.154084664_154084671dup, NC_000004.11:g.154084663_154084671dup, NC_000004.11:g.154084660_154084671dup, NC_000004.11:g.154084671_154084672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041788.1:g.15390_15402del, NG_041788.1:g.15391_15402del, NG_041788.1:g.15392_15402del, NG_041788.1:g.15393_15402del, NG_041788.1:g.15395_15402del, NG_041788.1:g.15396_15402del, NG_041788.1:g.15397_15402del, NG_041788.1:g.15398_15402del, NG_041788.1:g.15400_15402del, NG_041788.1:g.15401_15402del, NG_041788.1:g.15402del, NG_041788.1:g.15402dup, NG_041788.1:g.15401_15402dup, NG_041788.1:g.15400_15402dup, NG_041788.1:g.15399_15402dup, NG_041788.1:g.15398_15402dup, NG_041788.1:g.15397_15402dup, NG_041788.1:g.15396_15402dup, NG_041788.1:g.15395_15402dup, NG_041788.1:g.15394_15402dup, NG_041788.1:g.15391_15402dup, NG_041788.1:g.15402_15403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149141035820.

rs1491410358 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:153318536 (GRCh38)
4:154239688 (GRCh37)
Canonical SPDI:: NC_000004.12:153318535:CT:
Gene:: TRIM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.153318536_153318537del, NC_000004.11:g.154239688_154239689del, NG_041788.1:g.170419_170420del

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