SNP Links for Gene (Select 4535) - SNP

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Select item 10575202011.

rs1057520201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:4132 (GRCh38)
MT:4132 (GRCh37)
Canonical SPDI:: NC_012920.1:4131:G:A
Gene:: MT-CO1 (Varview), MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by cluster
HGVS:: NC_012920.1:m.4132G>A, YP_003024026.1:p.Ala276Thr

Select item 10575160582.

rs1057516058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:3624 (GRCh38)
MT:3624 (GRCh37)
Canonical SPDI:: NC_012920.1:3623:A:G
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00045/4 (ALFA)
G=0.00014/2 (TOMMO)
HGVS:: NC_012920.1:m.3624A>G

Select item 8792396953.

rs879239695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:3645 (GRCh38)
MT:3645 (GRCh37)
Canonical SPDI:: NC_012920.1:3644:T:C
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00043/42 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.0005/4 (TOMMO)
C=0.0024/7 (KOREAN)
C=0.00253/2 (PRJEB37584)
HGVS:: NC_012920.1:m.3645T>C

Select item 8792130474.

rs879213047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:3850 (GRCh38)
MT:3850 (GRCh37)
Canonical SPDI:: NC_012920.1:3849:G:A
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0001/1 (ALFA)
A=0.0001/1 (TOMMO)
A=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.3850G>A, YP_003024026.1:p.Ala182Thr

Select item 8791937275.

rs879193727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:3349 (GRCh38)
MT:3349 (GRCh37)
Canonical SPDI:: NC_012920.1:3348:A:G
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00143/64 (ALFA)
HGVS:: NC_012920.1:m.3349A>G, YP_003024026.1:p.Ile15Val

Select item 8791869006.

rs879186900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:3621 (GRCh38)
MT:3621 (GRCh37)
Canonical SPDI:: NC_012920.1:3620:T:C
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0006/5 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.0002/2 (TOMMO)
C=0.0003/1 (KOREAN)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.3621T>C

Select item 8791760557.

rs879176055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:3943 (GRCh38)
MT:3943 (GRCh37)
Canonical SPDI:: NC_012920.1:3942:A:G
Gene:: MT-CO1 (Varview), MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: G=0.0004/3 (TOMMO)
G=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.3943A>G, YP_003024026.1:p.Ile213Val

Select item 8791738248.

rs879173824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:3335 (GRCh38)
MT:3335 (GRCh37)
Canonical SPDI:: NC_012920.1:3334:T:C
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0011/10 (ALFA)
C=0.0025/21 (TOMMO)
C=0.0027/8 (KOREAN)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.3335T>C, YP_003024026.1:p.Ile10Thr

Select item 8791317819.

rs879131781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:3892 (GRCh38)
MT:3892 (GRCh37)
Canonical SPDI:: NC_012920.1:3891:A:G
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/2 (ALFA)
G=0.0001/1 (TOMMO)
G=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.3892A>G, YP_003024026.1:p.Thr196Ala

Select item 87912244710.

rs879122447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:3646 (GRCh38)
MT:3646 (GRCh37)
Canonical SPDI:: NC_012920.1:3645:T:C
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00039/13 (ALFA)
C=0.00505/4 (PRJEB37584)
HGVS:: NC_012920.1:m.3646T>C, YP_003024026.1:p.Tyr114His

Select item 87910724411.

rs879107244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: MT:3688 (GRCh38)
MT:3688 (GRCh37)
Canonical SPDI:: NC_012920.1:3687:G:C
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.0004/4 (ALFA)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.3688G>C, YP_003024026.1:p.Ala128Pro

Select item 87910278512.

rs879102785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:3342 (GRCh38)
MT:3342 (GRCh37)
Canonical SPDI:: NC_012920.1:3341:C:T
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00086/14 (ALFA)
T=0.00749/4 (MGP)
HGVS:: NC_012920.1:m.3342C>T

Select item 87908274213.

rs879082742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:3738 (GRCh38)
MT:3738 (GRCh37)
Canonical SPDI:: NC_012920.1:3737:C:T
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0009/8 (ALFA)
T=0.0002/2 (TOMMO)
T=0.0056/3 (MGP)
HGVS:: NC_012920.1:m.3738C>T

Select item 87905170514.

rs879051705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:3992 (GRCh38)
MT:3992 (GRCh37)
Canonical SPDI:: NC_012920.1:3991:C:T
Gene:: MT-CO1 (Varview), MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01362/223 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00137/4 (KOREAN)
T=0.00262/22 (TOMMO)
T=0.00494/10 (HGDP_Stanford)
HGVS:: NC_012920.1:m.3992C>T, YP_003024026.1:p.Thr229Met

Select item 87905071415.

rs879050714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:3385 (GRCh38)
MT:3385 (GRCh37)
Canonical SPDI:: NC_012920.1:3384:A:G
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_012920.1:m.3385A>G, YP_003024026.1:p.Ile27Val

Select item 87904876116.

rs879048761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:3827 (GRCh38)
MT:3827 (GRCh37)
Canonical SPDI:: NC_012920.1:3826:T:C
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00294/70 (ALFA)
HGVS:: NC_012920.1:m.3827T>C, YP_003024026.1:p.Leu174Ser

Select item 87904422417.

rs879044224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:3954 (GRCh38)
MT:3954 (GRCh37)
Canonical SPDI:: NC_012920.1:3953:C:T
Gene:: MT-CO1 (Varview), MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0003/3 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.0075/4 (MGP)
HGVS:: NC_012920.1:m.3954C>T

Select item 87904338218.

rs879043382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:4047 (GRCh38)
MT:4047 (GRCh37)
Canonical SPDI:: NC_012920.1:4046:T:C
Gene:: MT-CO1 (Varview), MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0007/6 (ALFA)
C=0.0034/10 (KOREAN)
C=0.0045/37 (TOMMO)
HGVS:: NC_012920.1:m.4047T>C

Select item 87902359819.

rs879023598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:3360 (GRCh38)
MT:3360 (GRCh37)
Canonical SPDI:: NC_012920.1:3359:A:G
Gene:: MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.0061/55 (ALFA)
G=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.3360A>G

Select item 87899980920.

rs878999809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: MT:3921 (GRCh38)
MT:3921 (GRCh37)
Canonical SPDI:: NC_012920.1:3920:C:A,NC_012920.1:3920:C:T
Gene:: MT-CO1 (Varview), MT-ND1 (Varview), MT-ND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0275/247 (ALFA)
T=0.0075/4 (MGP)
A=0.25/2 (SGDP_PRJ)
HGVS:: NC_012920.1:m.3921C>A, NC_012920.1:m.3921C>T

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