SNP Links for Gene (Select 4514) - SNP

Links from Gene

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Select item 10575160641.

rs1057516064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:9237 (GRCh38)
MT:9237 (GRCh37)
Canonical SPDI:: NC_012920.1:9236:G:A
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-pathogenic,pathogenic
Validated:: by cluster
HGVS:: NC_012920.1:m.9237G>A, YP_003024032.1:p.Val11Met

Select item 8792450052.

rs879245005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:9923 (GRCh38)
MT:9923 (GRCh37)
Canonical SPDI:: NC_012920.1:9922:C:T
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0025/22 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.0001/1 (TOMMO)
T=0.0019/1 (MGP)
HGVS:: NC_012920.1:m.9923C>T

Select item 8792373613.

rs879237361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: MT:9530 (GRCh38)
MT:9530 (GRCh37)
Canonical SPDI:: NC_012920.1:9529:T:A,NC_012920.1:9529:T:C
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0016/14 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.0004/3 (TOMMO)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.9530T>A, NC_012920.1:m.9530T>C

Select item 8792298944.

rs879229894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:9962 (GRCh38)
MT:9962 (GRCh37)
Canonical SPDI:: NC_012920.1:9961:G:A
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00184/30 (ALFA)
A=0.00375/2 (MGP)
A=0.00602/50 (TOMMO)
A=0.01916/56 (KOREAN)
HGVS:: NC_012920.1:m.9962G>A

Select item 8792140255.

rs879214025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:9785 (GRCh38)
MT:9785 (GRCh37)
Canonical SPDI:: NC_012920.1:9784:C:T
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00018/12 (ALFA)
C=0./0 (SGDP_PRJ)
HGVS:: NC_012920.1:m.9785C>T

Select item 8791850426.

rs879185042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:9218 (GRCh38)
MT:9218 (GRCh37)
Canonical SPDI:: NC_012920.1:9217:A:G
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/2 (ALFA)
G=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.9218A>G

Select item 8791767117.

rs879176711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:9459 (GRCh38)
MT:9459 (GRCh37)
Canonical SPDI:: NC_012920.1:9458:C:T
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00004/1 (ALFA)
HGVS:: NC_012920.1:m.9459C>T

Select item 8791598668.

rs879159866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:9739 (GRCh38)
MT:9739 (GRCh37)
Canonical SPDI:: NC_012920.1:9738:C:T
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: T=0.0001/1 (TOMMO)
T=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.9739C>T, YP_003024032.1:p.Ala178Val

Select item 8791431859.

rs879143185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:9541 (GRCh38)
MT:9541 (GRCh37)
Canonical SPDI:: NC_012920.1:9540:T:C
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03458/1052 (ALFA)
HGVS:: NC_012920.1:m.9541T>C, YP_003024032.1:p.Leu112Ser

Select item 87912389710.

rs879123897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:9986 (GRCh38)
MT:9986 (GRCh37)
Canonical SPDI:: NC_012920.1:9985:G:A
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/2 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.0094/5 (MGP)
HGVS:: NC_012920.1:m.9986G>A

Select item 87909179811.

rs879091798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:9951 (GRCh38)
MT:9951 (GRCh37)
Canonical SPDI:: NC_012920.1:9950:T:C
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00895/216 (ALFA)
HGVS:: NC_012920.1:m.9951T>C, YP_003024032.1:p.Trp249Arg

Select item 87908412712.

rs879084127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:9770 (GRCh38)
MT:9770 (GRCh37)
Canonical SPDI:: NC_012920.1:9769:T:C
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0004/4 (ALFA)
C=0.0003/2 (TOMMO)
C=0.0007/2 (KOREAN)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.9770T>C

Select item 87907019313.

rs879070193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:9297 (GRCh38)
MT:9297 (GRCh37)
Canonical SPDI:: NC_012920.1:9296:C:T
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_012920.1:m.9297C>T

Select item 87906529014.

rs879065290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:9371 (GRCh38)
MT:9371 (GRCh37)
Canonical SPDI:: NC_012920.1:9370:C:T
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/2 (ALFA)
T=0.0007/2 (KOREAN)
T=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.9371C>T

Select item 87905855815.

rs879058558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:9230 (GRCh38)
MT:9230 (GRCh37)
Canonical SPDI:: NC_012920.1:9229:T:C
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0007/6 (ALFA)
C=0.0008/7 (TOMMO)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.9230T>C

Select item 87902835116.

rs879028351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: MT:9758 (GRCh38)
MT:9758 (GRCh37)
Canonical SPDI:: NC_012920.1:9757:T:A,NC_012920.1:9757:T:C
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0004/4 (ALFA)
C=0.0016/13 (TOMMO)
C=0.0027/8 (KOREAN)
C=0.0037/2 (MGP)
T=0.1667/1 (SGDP_PRJ)
HGVS:: NC_012920.1:m.9758T>A, NC_012920.1:m.9758T>C

Select item 87902215517.

rs879022155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:9713 (GRCh38)
MT:9713 (GRCh37)
Canonical SPDI:: NC_012920.1:9712:G:A
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/2 (ALFA)
A=0.0001/1 (TOMMO)
A=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.9713G>A

Select item 87901584118.

rs879015841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:9468 (GRCh38)
MT:9468 (GRCh37)
Canonical SPDI:: NC_012920.1:9467:A:G
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0009/8 (ALFA)
A=0./0 (SGDP_PRJ)
G=0.0001/1 (TOMMO)
HGVS:: NC_012920.1:m.9468A>G, YP_003024032.1:p.Thr88Ala

Select item 87900195319.

rs879001953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:9851 (GRCh38)
MT:9851 (GRCh37)
Canonical SPDI:: NC_012920.1:9850:C:T
Gene:: MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.004/2 (MGP)
HGVS:: NC_012920.1:m.9851C>T

Select item 87900053120.

rs879000531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:9325 (GRCh38)
MT:9325 (GRCh37)
Canonical SPDI:: NC_012920.1:9324:T:C
Gene:: MT-ATP6 (Varview), MT-CO3 (Varview), MT-ND3 (Varview), MT-ND4 (Varview), MT-ND4L (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00022/2 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.00007/1 (TOMMO)
HGVS:: NC_012920.1:m.9325T>C, YP_003024032.1:p.Met40Thr

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