SNP Links for Gene (Select 112714) - SNP

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Items: 1 to 20 of 2334

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Select item 14908578381.

rs1490857838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:130197608 (GRCh38)
2:130955181 (GRCh37)
Canonical SPDI:: NC_000002.12:130197607:G:C
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130197608G>C, NC_000002.11:g.130955181G>C, NG_051288.1:g.5854C>G, NW_025791762.1:g.374161G>C

Select item 14901651792.

rs1490165179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130196580 (GRCh38)
2:130954153 (GRCh37)
Canonical SPDI:: NC_000002.12:130196579:T:C
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.130196580T>C, NC_000002.11:g.130954153T>C, NG_051288.1:g.6882A>G, NW_025791762.1:g.373133T>C

Select item 14895742943.

rs1489574294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130191809 (GRCh38)
2:130949382 (GRCh37)
Canonical SPDI:: NC_000002.12:130191808:G:A
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.130191809G>A, NC_000002.11:g.130949382G>A, NG_051288.1:g.11653C>T, NM_207312.3:c.*22C>T, NM_207312.2:c.*22C>T, NW_025791762.1:g.368361G>A

Select item 14886667274.

rs1488666727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130195671 (GRCh38)
2:130953244 (GRCh37)
Canonical SPDI:: NC_000002.12:130195670:G:A
Gene:: MZT2B (Varview), TUBA3E (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.130195671G>A, NC_000002.11:g.130953244G>A, NG_051288.1:g.7791C>T, NW_025791762.1:g.372224G>A

Select item 14882174635.

rs1488217463 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCCATGTG>- [Show Flanks]
Chromosome:: 2:130192648 (GRCh38)
2:130950221 (GRCh37)
Canonical SPDI:: NC_000002.12:130192644:GTGGTCCATGTG:GTG
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.130192648_130192656del, NC_000002.11:g.130950221_130950229del, NG_051288.1:g.10809_10817del, NW_025791762.1:g.369200_369208del

Select item 14870095326.

rs1487009532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:130199120 (GRCh38)
2:130956693 (GRCh37)
Canonical SPDI:: NC_000002.12:130199119:G:A,NC_000002.12:130199119:G:C
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130199120G>A, NC_000002.12:g.130199120G>C, NC_000002.11:g.130956693G>A, NC_000002.11:g.130956693G>C, NG_051288.1:g.4342C>T, NG_051288.1:g.4342C>G, NW_025791762.1:g.375673G>A, NW_025791762.1:g.375673G>C

Select item 14867081437.

rs1486708143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130194831 (GRCh38)
2:130952404 (GRCh37)
Canonical SPDI:: NC_000002.12:130194830:C:T
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.130194831C>T, NC_000002.11:g.130952404C>T, NG_051288.1:g.8631G>A, NW_025791762.1:g.371384C>T

Select item 14866306338.

rs1486630633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130191400 (GRCh38)
2:130948973 (GRCh37)
Canonical SPDI:: NC_000002.12:130191399:T:C
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,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.130191400T>C, NC_000002.11:g.130948973T>C, NG_051288.1:g.12062A>G, NW_025791762.1:g.367952T>C

Select item 14860459139.

rs1486045913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130196632 (GRCh38)
2:130954205 (GRCh37)
Canonical SPDI:: NC_000002.12:130196631:G:A
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.130196632G>A, NC_000002.11:g.130954205G>A, NG_051288.1:g.6830C>T, NW_025791762.1:g.373185G>A

Select item 148602121510.

rs1486021215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:130194943 (GRCh38)
2:130952516 (GRCh37)
Canonical SPDI:: NC_000002.12:130194942:G:A,NC_000002.12:130194942:G:T
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130194943G>A, NC_000002.12:g.130194943G>T, NC_000002.11:g.130952516G>A, NC_000002.11:g.130952516G>T, NG_051288.1:g.8519C>T, NG_051288.1:g.8519C>A, NW_025791762.1:g.371496G>A, NW_025791762.1:g.371496G>T

Select item 148585639011.

rs1485856390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130196913 (GRCh38)
2:130954486 (GRCh37)
Canonical SPDI:: NC_000002.12:130196912:C:T
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.130196913C>T, NC_000002.11:g.130954486C>T, NG_051288.1:g.6549G>A, NW_025791762.1:g.373466C>T

Select item 148491873612.

rs1484918736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:130198408 (GRCh38)
2:130955981 (GRCh37)
Canonical SPDI:: NC_000002.12:130198407:G:C
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130198408G>C, NC_000002.11:g.130955981G>C, NG_051288.1:g.5054C>G, NM_207312.3:c.-48C>G, NM_207312.2:c.-48C>G, NW_025791762.1:g.374961G>C

Select item 148486156613.

rs1484861566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:130192918 (GRCh38)
2:130950491 (GRCh37)
Canonical SPDI:: NC_000002.12:130192917:A:T
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.130192918A>T, NC_000002.11:g.130950491A>T, NG_051288.1:g.10544T>A, NW_025791762.1:g.369470A>T

Select item 148448971014.

rs1484489710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130193765 (GRCh38)
2:130951338 (GRCh37)
Canonical SPDI:: NC_000002.12:130193764:C:T
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.130193765C>T, NC_000002.11:g.130951338C>T, NG_051288.1:g.9697G>A, NW_025791762.1:g.370318C>T

Select item 148416478615.

rs1484164786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:130193359 (GRCh38)
2:130950932 (GRCh37)
Canonical SPDI:: NC_000002.12:130193358:A:C
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.130193359A>C, NC_000002.11:g.130950932A>C, NG_051288.1:g.10103T>G, NW_025791762.1:g.369911A>C

Select item 148393998316.

rs1483939983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130199779 (GRCh38)
2:130957352 (GRCh37)
Canonical SPDI:: NC_000002.12:130199778:G:A
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00015/10 (GnomAD)
HGVS:: NC_000002.12:g.130199779G>A, NC_000002.11:g.130957352G>A, NG_051288.1:g.3683C>T, NW_025791762.1:g.376332G>A

Select item 148387597017.

rs1483875970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:130195912 (GRCh38)
2:130953485 (GRCh37)
Canonical SPDI:: NC_000002.12:130195911:C:A
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130195912C>A, NC_000002.11:g.130953485C>A, NG_051288.1:g.7550G>T, NW_025791762.1:g.372465C>A

Select item 148382439218.

rs1483824392 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGTGGGTGACCTG>- [Show Flanks]
Chromosome:: 2:130197019 (GRCh38)
2:130954592 (GRCh37)
Canonical SPDI:: NC_000002.12:130197015:CTGCTGTGGGTGACCTG:CTG
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130197019_130197032del, NC_000002.11:g.130954592_130954605del, NG_051288.1:g.6433_6446del, NW_025791762.1:g.373572_373585del

Select item 148361425719.

rs1483614257 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148360269720.

rs1483602697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:130200374 (GRCh38)
2:130957947 (GRCh37)
Canonical SPDI:: NC_000002.12:130200373:C:G,NC_000002.12:130200373:C:T
Gene:: MZT2B (Varview), TUBA3E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130200374C>G, NC_000002.12:g.130200374C>T, NC_000002.11:g.130957947C>G, NC_000002.11:g.130957947C>T, NG_051288.1:g.3088G>C, NG_051288.1:g.3088G>A, NW_025791762.1:g.376927C>G, NW_025791762.1:g.376927C>T

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