SNP Links for Gene (Select 4541) - SNP

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Select item 10575201031.

rs1057520103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: MT:14476 (GRCh38)
MT:14476 (GRCh37)
Canonical SPDI:: NC_012920.1:14475:G:A,NC_012920.1:14475:G:T
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0008/7 (ALFA)
A=0.0253/74 (KOREAN)
A=0.0414/347 (TOMMO)
HGVS:: NC_012920.1:m.14476G>A, NC_012920.1:m.14476G>T

Select item 10575188822.

rs1057518882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:14598 (GRCh38)
MT:14598 (GRCh37)
Canonical SPDI:: NC_012920.1:14597:T:C
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-pathogenic,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/2 (ALFA)
C=0.0002/2 (TOMMO)
C=0.0007/2 (KOREAN)
HGVS:: NC_012920.1:m.14598T>C, YP_003024037.1:p.Ile26Val

Select item 10575160693.

rs1057516069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:14563 (GRCh38)
MT:14563 (GRCh37)
Canonical SPDI:: NC_012920.1:14562:C:T
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
HGVS:: NC_012920.1:m.14563C>T

Select item 8794920404.

rs879492040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:16529 (GRCh38)
MT:16529 (GRCh37)
Canonical SPDI:: NC_012920.1:16528:T:C
Gene:: MT-ND6 (Varview)
Functional Consequence:: 2KB_upstream_variant
HGVS:: NC_012920.1:m.16529T>C

Select item 8792507485.

rs879250748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: MT:14494 (GRCh38)
MT:14494 (GRCh37)
Canonical SPDI:: NC_012920.1:14493:T:C,NC_012920.1:14493:T:G
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,missense_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0007/6 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.0007/2 (KOREAN)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.14494T>C, NC_012920.1:m.14494T>G, YP_003024037.1:p.Leu60Phe

Select item 8792247826.

rs879224782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:16468 (GRCh38)
MT:16468 (GRCh37)
Canonical SPDI:: NC_012920.1:16467:T:C
Gene:: MT-ND6 (Varview)
Functional Consequence:: 2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.0007/2 (KOREAN)
C=0.0011/9 (TOMMO)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.16468T>C

Select item 8792179377.

rs879217937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:14207 (GRCh38)
MT:14207 (GRCh37)
Canonical SPDI:: NC_012920.1:14206:G:A
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (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:: A=0.0009/8 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.0006/5 (TOMMO)
A=0.0019/1 (MGP)
HGVS:: NC_012920.1:m.14207G>A, YP_003024037.1:p.Thr156Ile

Select item 8792096848.

rs879209684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:14221 (GRCh38)
MT:14221 (GRCh37)
Canonical SPDI:: NC_012920.1:14220:T:C
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0004/4 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.0004/4 (TOMMO)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.14221T>C

Select item 8792084889.

rs879208488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:14323 (GRCh38)
MT:14323 (GRCh37)
Canonical SPDI:: NC_012920.1:14322:G:A
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0036/269 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00071/6 (TOMMO)
A=0.00254/2 (PRJEB37584)
A=0.00749/4 (MGP)
HGVS:: NC_012920.1:m.14323G>A

Select item 87920094510.

rs879200945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:14298 (GRCh38)
MT:14298 (GRCh37)
Canonical SPDI:: NC_012920.1:14297:T:C
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.0002/2 (TOMMO)
C=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.14298T>C, YP_003024037.1:p.Ile126Val

Select item 87917974011.

rs879179740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:14452 (GRCh38)
MT:14452 (GRCh37)
Canonical SPDI:: NC_012920.1:14451:A:G
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.0006/5 (TOMMO)
HGVS:: NC_012920.1:m.14452A>G

Select item 87916646712.

rs879166467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:14338 (GRCh38)
MT:14338 (GRCh37)
Canonical SPDI:: NC_012920.1:14337:C:T
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/2 (ALFA)
T=0.00014/1 (TOMMO)
HGVS:: NC_012920.1:m.14338C>T

Select item 87915919813.

rs879159198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:14632 (GRCh38)
MT:14632 (GRCh37)
Canonical SPDI:: NC_012920.1:14631:C:T
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0011/10 (ALFA)
T=0.0006/5 (TOMMO)
T=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.14632C>T

Select item 87914443314.

rs879144433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:14215 (GRCh38)
MT:14215 (GRCh37)
Canonical SPDI:: NC_012920.1:14214:T:C
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0003/3 (ALFA)
C=0.0001/1 (TOMMO)
C=0.0003/1 (KOREAN)
C=0.0037/2 (MGP)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_012920.1:m.14215T>C

Select item 87914173115.

rs879141731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: MT:14620 (GRCh38)
MT:14620 (GRCh37)
Canonical SPDI:: NC_012920.1:14619:C:T
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01457/131 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00007/1 (TOMMO)
T=0.02247/12 (MGP)
HGVS:: NC_012920.1:m.14620C>T

Select item 87913951316.

rs879139513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:14296 (GRCh38)
MT:14296 (GRCh37)
Canonical SPDI:: NC_012920.1:14295:A:G
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0009/8 (ALFA)
G=0.0007/2 (KOREAN)
G=0.0008/7 (TOMMO)
G=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.14296A>G

Select item 87910374417.

rs879103744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:14512 (GRCh38)
MT:14512 (GRCh37)
Canonical SPDI:: NC_012920.1:14511:T:C
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00043/32 (ALFA)
C=0.00007/1 (TOMMO)
C=0.00411/12 (KOREAN)
HGVS:: NC_012920.1:m.14512T>C

Select item 87909532218.

rs879095322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: MT:14409 (GRCh38)
MT:14409 (GRCh37)
Canonical SPDI:: NC_012920.1:14408:A:G
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (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./0 (KOREAN)
G=0.0001/1 (TOMMO)
G=0.0037/2 (MGP)
HGVS:: NC_012920.1:m.14409A>G

Select item 87908679819.

rs879086798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: MT:14364 (GRCh38)
MT:14364 (GRCh37)
Canonical SPDI:: NC_012920.1:14363:G:A
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00525/86 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00375/2 (MGP)
A=0.01677/49 (KOREAN)
A=0.06916/580 (TOMMO)
HGVS:: NC_012920.1:m.14364G>A

Select item 87904816420.

rs879048164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: MT:14503 (GRCh38)
MT:14503 (GRCh37)
Canonical SPDI:: NC_012920.1:14502:T:C
Gene:: MT-CYB (Varview), MT-ND5 (Varview), MT-ND6 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0016/10 (ALFA)
HGVS:: NC_012920.1:m.14503T>C

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