SNP Links for Gene (Select 113457) - SNP

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Select item 14915180311.

rs1491518031 has merged into rs70994777 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:131474414 (GRCh38)
2:132231987 (GRCh37)
Canonical SPDI:: NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131474405:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.131474414_131474427del, NC_000002.12:g.131474416_131474427del, NC_000002.12:g.131474417_131474427del, NC_000002.12:g.131474418_131474427del, NC_000002.12:g.131474419_131474427del, NC_000002.12:g.131474420_131474427del, NC_000002.12:g.131474421_131474427del, NC_000002.12:g.131474422_131474427del, NC_000002.12:g.131474423_131474427del, NC_000002.12:g.131474424_131474427del, NC_000002.12:g.131474425_131474427del, NC_000002.12:g.131474426_131474427del, NC_000002.12:g.131474427del, NC_000002.12:g.131474427dup, NC_000002.12:g.131474426_131474427dup, NC_000002.12:g.131474425_131474427dup, NC_000002.12:g.131474424_131474427dup, NC_000002.12:g.131474423_131474427dup, NC_000002.12:g.131474422_131474427dup, NC_000002.12:g.131474421_131474427dup, NC_000002.12:g.131474420_131474427dup, NC_000002.12:g.131474419_131474427dup, NC_000002.12:g.131474418_131474427dup, NC_000002.12:g.131474417_131474427dup, NC_000002.11:g.132231987_132232000del, NC_000002.11:g.132231989_132232000del, NC_000002.11:g.132231990_132232000del, NC_000002.11:g.132231991_132232000del, NC_000002.11:g.132231992_132232000del, NC_000002.11:g.132231993_132232000del, NC_000002.11:g.132231994_132232000del, NC_000002.11:g.132231995_132232000del, NC_000002.11:g.132231996_132232000del, NC_000002.11:g.132231997_132232000del, NC_000002.11:g.132231998_132232000del, NC_000002.11:g.132231999_132232000del, NC_000002.11:g.132232000del, NC_000002.11:g.132232000dup, NC_000002.11:g.132231999_132232000dup, NC_000002.11:g.132231998_132232000dup, NC_000002.11:g.132231997_132232000dup, NC_000002.11:g.132231996_132232000dup, NC_000002.11:g.132231995_132232000dup, NC_000002.11:g.132231994_132232000dup, NC_000002.11:g.132231993_132232000dup, NC_000002.11:g.132231992_132232000dup, NC_000002.11:g.132231991_132232000dup, NC_000002.11:g.132231990_132232000dup, NG_030320.1:g.3408_3421del, NG_030320.1:g.3410_3421del, NG_030320.1:g.3411_3421del, NG_030320.1:g.3412_3421del, NG_030320.1:g.3413_3421del, NG_030320.1:g.3414_3421del, NG_030320.1:g.3415_3421del, NG_030320.1:g.3416_3421del, NG_030320.1:g.3417_3421del, NG_030320.1:g.3418_3421del, NG_030320.1:g.3419_3421del, NG_030320.1:g.3420_3421del, NG_030320.1:g.3421del, NG_030320.1:g.3421dup, NG_030320.1:g.3420_3421dup, NG_030320.1:g.3419_3421dup, NG_030320.1:g.3418_3421dup, NG_030320.1:g.3417_3421dup, NG_030320.1:g.3416_3421dup, NG_030320.1:g.3415_3421dup, NG_030320.1:g.3414_3421dup, NG_030320.1:g.3413_3421dup, NG_030320.1:g.3412_3421dup, NG_030320.1:g.3411_3421dup

Select item 14912075142.

rs1491207514 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:131474406 (GRCh38)
2:132231980 (GRCh37)
Canonical SPDI:: NC_000002.12:131474406:T:TCT
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TCT=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.131474407_131474408insCT, NC_000002.11:g.132231980_132231981insCT, NG_030320.1:g.3401_3402insCT

Select item 14906296903.

rs1490629690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:131483256 (GRCh38)
2:132240829 (GRCh37)
Canonical SPDI:: NC_000002.12:131483255:G:C
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.131483256G>C, NC_000002.11:g.132240829G>C, NG_030320.1:g.12250G>C

Select item 14905156764.

rs1490515676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:131481061 (GRCh38)
2:132238634 (GRCh37)
Canonical SPDI:: NC_000002.12:131481060:G:A
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.131481061G>A, NC_000002.11:g.132238634G>A, NG_030320.1:g.10055G>A

Select item 14904785215.

rs1490478521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:131476181 (GRCh38)
2:132233754 (GRCh37)
Canonical SPDI:: NC_000002.12:131476180:T:C
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.131476181T>C, NC_000002.11:g.132233754T>C, NG_030320.1:g.5175T>C, NM_080386.4:c.-19T>C, NM_080386.3:c.-19T>C

Select item 14902263306.

rs1490226330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:131476934 (GRCh38)
2:132234507 (GRCh37)
Canonical SPDI:: NC_000002.12:131476933:G:A
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.013844/207 (ALFA)
A=0.000035/1 (TOMMO)
A=0.019484/2157 (GnomAD)
G=0.125/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.131476934G>A, NC_000002.11:g.132234507G>A, NG_030320.1:g.5928G>A

Select item 14901902557.

rs1490190255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:131477159 (GRCh38)
2:132234732 (GRCh37)
Canonical SPDI:: NC_000002.12:131477158:T:A
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000002.12:g.131477159T>A, NC_000002.11:g.132234732T>A, NG_030320.1:g.6153T>A

Select item 14898114728.

rs1489811472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:131482289 (GRCh38)
2:132239862 (GRCh37)
Canonical SPDI:: NC_000002.12:131482288:C:T
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.131482289C>T, NC_000002.11:g.132239862C>T, NG_030320.1:g.11283C>T

Select item 14897931789.

rs1489793178 has merged into rs551443616 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:131475328 (GRCh38)
2:132232901 (GRCh37)
Canonical SPDI:: NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:131475319:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.1881/942 (1000Genomes)
HGVS:: NC_000002.12:g.131475328_131475345del, NC_000002.12:g.131475330_131475345del, NC_000002.12:g.131475331_131475345del, NC_000002.12:g.131475332_131475345del, NC_000002.12:g.131475333_131475345del, NC_000002.12:g.131475334_131475345del, NC_000002.12:g.131475335_131475345del, NC_000002.12:g.131475336_131475345del, NC_000002.12:g.131475337_131475345del, NC_000002.12:g.131475338_131475345del, NC_000002.12:g.131475339_131475345del, NC_000002.12:g.131475340_131475345del, NC_000002.12:g.131475341_131475345del, NC_000002.12:g.131475342_131475345del, NC_000002.12:g.131475343_131475345del, NC_000002.12:g.131475344_131475345del, NC_000002.12:g.131475345del, NC_000002.12:g.131475345dup, NC_000002.12:g.131475344_131475345dup, NC_000002.12:g.131475343_131475345dup, NC_000002.12:g.131475342_131475345dup, NC_000002.12:g.131475341_131475345dup, NC_000002.12:g.131475340_131475345dup, NC_000002.12:g.131475339_131475345dup, NC_000002.12:g.131475338_131475345dup, NC_000002.12:g.131475337_131475345dup, NC_000002.12:g.131475336_131475345dup, NC_000002.11:g.132232901_132232918del, NC_000002.11:g.132232903_132232918del, NC_000002.11:g.132232904_132232918del, NC_000002.11:g.132232905_132232918del, NC_000002.11:g.132232906_132232918del, NC_000002.11:g.132232907_132232918del, NC_000002.11:g.132232908_132232918del, NC_000002.11:g.132232909_132232918del, NC_000002.11:g.132232910_132232918del, NC_000002.11:g.132232911_132232918del, NC_000002.11:g.132232912_132232918del, NC_000002.11:g.132232913_132232918del, NC_000002.11:g.132232914_132232918del, NC_000002.11:g.132232915_132232918del, NC_000002.11:g.132232916_132232918del, NC_000002.11:g.132232917_132232918del, NC_000002.11:g.132232918del, NC_000002.11:g.132232918dup, NC_000002.11:g.132232917_132232918dup, NC_000002.11:g.132232916_132232918dup, NC_000002.11:g.132232915_132232918dup, NC_000002.11:g.132232914_132232918dup, NC_000002.11:g.132232913_132232918dup, NC_000002.11:g.132232912_132232918dup, NC_000002.11:g.132232911_132232918dup, NC_000002.11:g.132232910_132232918dup, NC_000002.11:g.132232909_132232918dup, NG_030320.1:g.4322_4339del, NG_030320.1:g.4324_4339del, NG_030320.1:g.4325_4339del, NG_030320.1:g.4326_4339del, NG_030320.1:g.4327_4339del, NG_030320.1:g.4328_4339del, NG_030320.1:g.4329_4339del, NG_030320.1:g.4330_4339del, NG_030320.1:g.4331_4339del, NG_030320.1:g.4332_4339del, NG_030320.1:g.4333_4339del, NG_030320.1:g.4334_4339del, NG_030320.1:g.4335_4339del, NG_030320.1:g.4336_4339del, NG_030320.1:g.4337_4339del, NG_030320.1:g.4338_4339del, NG_030320.1:g.4339del, NG_030320.1:g.4339dup, NG_030320.1:g.4338_4339dup, NG_030320.1:g.4337_4339dup, NG_030320.1:g.4336_4339dup, NG_030320.1:g.4335_4339dup, NG_030320.1:g.4334_4339dup, NG_030320.1:g.4333_4339dup, NG_030320.1:g.4332_4339dup, NG_030320.1:g.4331_4339dup, NG_030320.1:g.4330_4339dup

Select item 148940782510.

rs1489407825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGGATCACCTGATG [Show Flanks]
Chromosome:: 2:131476705 (GRCh38)
2:132234279 (GRCh37)
Canonical SPDI:: NC_000002.12:131476705:GGCGGATCACCTGATG:GGCGGATCACCTGATGGCGGATCACCTGATG
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGATCACCTGATGGCGGATCACCTGATG=0./0 (ALFA)
GGCGGATCACCTGAT=0.000004/1 (TOPMED)
GGCGGATCACCTGAT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.131476707_131476721dup, NC_000002.11:g.132234280_132234294dup, NG_030320.1:g.5701_5715dup

Select item 148931423211.

rs1489314232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:131475869 (GRCh38)
2:132233442 (GRCh37)
Canonical SPDI:: NC_000002.12:131475868:G:T
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_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_000002.12:g.131475869G>T, NC_000002.11:g.132233442G>T, NG_030320.1:g.4863G>T

Select item 148920225812.

rs1489202258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:131475108 (GRCh38)
2:132232681 (GRCh37)
Canonical SPDI:: NC_000002.12:131475107:G:A
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.131475108G>A, NC_000002.11:g.132232681G>A, NG_030320.1:g.4102G>A

Select item 148874974713.

rs1488749747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:131480852 (GRCh38)
2:132238425 (GRCh37)
Canonical SPDI:: NC_000002.12:131480851:G:C
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000002.12:g.131480852G>C, NC_000002.11:g.132238425G>C, NG_030320.1:g.9846G>C

Select item 148856456714.

rs1488564567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:131474318 (GRCh38)
2:132231891 (GRCh37)
Canonical SPDI:: NC_000002.12:131474317:C:G,NC_000002.12:131474317:C:T
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000002.12:g.131474318C>G, NC_000002.12:g.131474318C>T, NC_000002.11:g.132231891C>G, NC_000002.11:g.132231891C>T, NG_030320.1:g.3312C>G, NG_030320.1:g.3312C>T

Select item 148815465515.

rs1488154655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:131482614 (GRCh38)
2:132240187 (GRCh37)
Canonical SPDI:: NC_000002.12:131482613:G:C
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.131482614G>C, NC_000002.11:g.132240187G>C, NG_030320.1:g.11608G>C, NM_080386.4:c.1119G>C, NM_080386.3:c.1119G>C

Select item 148767782616.

rs1487677826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:131476133 (GRCh38)
2:132233706 (GRCh37)
Canonical SPDI:: NC_000002.12:131476132:C:A,NC_000002.12:131476132:C:T
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.131476133C>A, NC_000002.12:g.131476133C>T, NC_000002.11:g.132233706C>A, NC_000002.11:g.132233706C>T, NG_030320.1:g.5127C>A, NG_030320.1:g.5127C>T, NM_080386.4:c.-67C>A, NM_080386.4:c.-67C>T, NM_080386.3:c.-67C>A, NM_080386.3:c.-67C>T

Select item 148732014517.

rs1487320145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:131477105 (GRCh38)
2:132234678 (GRCh37)
Canonical SPDI:: NC_000002.12:131477104:A:G
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.131477105A>G, NC_000002.11:g.132234678A>G, NG_030320.1:g.6099A>G

Select item 148730147518.

rs1487301475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:131477712 (GRCh38)
2:132235285 (GRCh37)
Canonical SPDI:: NC_000002.12:131477711:G:T
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.131477712G>T, NC_000002.11:g.132235285G>T, NG_030320.1:g.6706G>T

Select item 148728818219.

rs1487288182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:131483178 (GRCh38)
2:132240752 (GRCh37)
Canonical SPDI:: NC_000002.12:131483178:AA:AAA
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.131483180dup, NC_000002.11:g.132240753dup, NG_030320.1:g.12174dup

Select item 148703429920.

rs1487034299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:131474543 (GRCh38)
2:132232116 (GRCh37)
Canonical SPDI:: NC_000002.12:131474542:G:A,NC_000002.12:131474542:G:T
Gene:: TUBA3D (Varview), MZT2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.131474543G>A, NC_000002.12:g.131474543G>T, NC_000002.11:g.132232116G>A, NC_000002.11:g.132232116G>T, NG_030320.1:g.3537G>A, NG_030320.1:g.3537G>T

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