SNP Links for Gene (Select 440145) - SNP

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Select item 14914229391.

rs1491422939 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:72724540 (GRCh38)
13:73298679 (GRCh37)
Canonical SPDI:: NC_000013.11:72724540::G
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.72724540_72724541insG, NC_000013.10:g.73298678_73298679insG

Select item 14913305662.

rs1491330566 has merged into rs201616341 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:72724551 (GRCh38)
13:73298689 (GRCh37)
Canonical SPDI:: NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:72724539:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000068/18 (TOPMED)
-=0.086661/434 (1000Genomes)
HGVS:: NC_000013.11:g.72724551_72724556del, NC_000013.11:g.72724552_72724556del, NC_000013.11:g.72724554_72724556del, NC_000013.11:g.72724555_72724556del, NC_000013.11:g.72724556del, NC_000013.11:g.72724556dup, NC_000013.11:g.72724555_72724556dup, NC_000013.11:g.72724554_72724556dup, NC_000013.11:g.72724551_72724556dup, NC_000013.10:g.73298689_73298694del, NC_000013.10:g.73298690_73298694del, NC_000013.10:g.73298692_73298694del, NC_000013.10:g.73298693_73298694del, NC_000013.10:g.73298694del, NC_000013.10:g.73298694dup, NC_000013.10:g.73298693_73298694dup, NC_000013.10:g.73298692_73298694dup, NC_000013.10:g.73298689_73298694dup

Select item 14913067183.

rs1491306718 has merged into rs11358027 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 13:72729292 (GRCh38)
13:73303430 (GRCh37)
Canonical SPDI:: NC_000013.11:72729284:TTTTTTTTTTTTT:TTTTTTT,NC_000013.11:72729284:TTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:72729284:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:72729284:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:72729284:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:72729284:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:72729284:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: BORA (Varview), MZT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0./0 (GENOME_DK)
T=0.0033/2 (NorthernSweden)
T=0.0057/21 (TWINSUK)
T=0.0101/39 (ALSPAC)
T=0.1366/684 (1000Genomes)
HGVS:: NC_000013.11:g.72729292_72729297del, NC_000013.11:g.72729293_72729297del, NC_000013.11:g.72729295_72729297del, NC_000013.11:g.72729296_72729297del, NC_000013.11:g.72729297del, NC_000013.11:g.72729297dup, NC_000013.11:g.72729296_72729297dup, NC_000013.10:g.73303430_73303435del, NC_000013.10:g.73303431_73303435del, NC_000013.10:g.73303433_73303435del, NC_000013.10:g.73303434_73303435del, NC_000013.10:g.73303435del, NC_000013.10:g.73303435dup, NC_000013.10:g.73303434_73303435dup

Select item 14912458204.

rs1491245820 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 13:72711699 (GRCh38)
13:73285838 (GRCh37)
Canonical SPDI:: NC_000013.11:72711699::A,NC_000013.11:72711699::AA
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00037/6 (ALFA)
HGVS:: NC_000013.11:g.72711699_72711700insA, NC_000013.11:g.72711699_72711700insAA, NC_000013.10:g.73285837_73285838insA, NC_000013.10:g.73285837_73285838insAA

Select item 14912004675.

rs1491200467 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:72711699 (GRCh38)
13:73285837 (GRCh37)
Canonical SPDI:: NC_000013.11:72711698:TT:
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000013.11:g.72711699_72711700del, NC_000013.10:g.73285837_73285838del

Select item 14911652746.

rs1491165274 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:72724718 (GRCh38)
13:73298857 (GRCh37)
Canonical SPDI:: NC_000013.11:72724718::T
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.00006/1 (GnomAD)
HGVS:: NC_000013.11:g.72724718_72724719insT, NC_000013.10:g.73298856_73298857insT

Select item 14909827567.

rs1490982756 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 13:72715481 (GRCh38)
13:73289619 (GRCh37)
Canonical SPDI:: NC_000013.11:72715476:AGAAGAA:AGAA
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000013.11:g.72715478GAA[1], NC_000013.10:g.73289616GAA[1]

Select item 14909266588.

rs1490926658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:72715166 (GRCh38)
13:73289304 (GRCh37)
Canonical SPDI:: NC_000013.11:72715165:A:C
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72715166A>C, NC_000013.10:g.73289304A>C

Select item 14908299709.

rs1490829970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:72713695 (GRCh38)
13:73287833 (GRCh37)
Canonical SPDI:: NC_000013.11:72713694:G:A,NC_000013.11:72713694:G:C
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72713695G>A, NC_000013.11:g.72713695G>C, NC_000013.10:g.73287833G>A, NC_000013.10:g.73287833G>C

Select item 149066613610.

rs1490666136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72714194 (GRCh38)
13:73288332 (GRCh37)
Canonical SPDI:: NC_000013.11:72714193:A:G
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72714194A>G, NC_000013.10:g.73288332A>G

Select item 149063655311.

rs1490636553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:72712987 (GRCh38)
13:73287125 (GRCh37)
Canonical SPDI:: NC_000013.11:72712986:T:A,NC_000013.11:72712986:T:C
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.72712987T>A, NC_000013.11:g.72712987T>C, NC_000013.10:g.73287125T>A, NC_000013.10:g.73287125T>C

Select item 149032996812.

rs1490329968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:72726492 (GRCh38)
13:73300630 (GRCh37)
Canonical SPDI:: NC_000013.11:72726491:G:A,NC_000013.11:72726491:G:C
Gene:: BORA (Varview), MZT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72726492G>A, NC_000013.11:g.72726492G>C, NC_000013.10:g.73300630G>A, NC_000013.10:g.73300630G>C

Select item 149022207813.

rs1490222078 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:72728591 (GRCh38)
13:73302729 (GRCh37)
Canonical SPDI:: NC_000013.11:72728590:A:C
Gene:: BORA (Varview), MZT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.004027/18 (ALFA)
C=0.000086/12 (GnomAD)
C=0.004018/18 (Estonian)
HGVS:: NC_000013.11:g.72728591A>C, NC_000013.10:g.73302729A>C

Select item 149009939614.

rs1490099396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:72710897 (GRCh38)
13:73285035 (GRCh37)
Canonical SPDI:: NC_000013.11:72710896:C:G,NC_000013.11:72710896:C:T
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000013.11:g.72710897C>G, NC_000013.11:g.72710897C>T, NC_000013.10:g.73285035C>G, NC_000013.10:g.73285035C>T

Select item 148993545115.

rs1489935451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:72711443 (GRCh38)
13:73285581 (GRCh37)
Canonical SPDI:: NC_000013.11:72711442:G:C
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.72711443G>C, NC_000013.10:g.73285581G>C

Select item 148985263616.

rs1489852636 [Homo sapiens]

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

Select item 148983783517.

rs1489837835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:72714459 (GRCh38)
13:73288597 (GRCh37)
Canonical SPDI:: NC_000013.11:72714458:C:A
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.72714459C>A, NC_000013.10:g.73288597C>A

Select item 148948341518.

rs1489483415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:72710056 (GRCh38)
13:73284194 (GRCh37)
Canonical SPDI:: NC_000013.11:72710055:A:C
Gene:: MZT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.72710056A>C, NC_000013.10:g.73284194A>C, NM_001071775.3:c.*266T>G, NM_001071775.2:c.*266T>G

Select item 148920087219.

rs1489200872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72728231 (GRCh38)
13:73302369 (GRCh37)
Canonical SPDI:: NC_000013.11:72728230:G:A
Gene:: BORA (Varview), MZT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.72728231G>A, NC_000013.10:g.73302369G>A, NM_001286746.3:c.-45G>A, NM_001286746.2:c.-45G>A, NM_001286746.1:c.181G>A

Select item 148915594920.

rs1489155949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:72714888 (GRCh38)
13:73289026 (GRCh37)
Canonical SPDI:: NC_000013.11:72714887:T:A,NC_000013.11:72714887:T:C
Gene:: MZT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72714888T>A, NC_000013.11:g.72714888T>C, NC_000013.10:g.73289026T>A, NC_000013.10:g.73289026T>C

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