SNP Links for Gene (Select 4499) - SNP

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Select item 14909904311.

rs1490990431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:56631999 (GRCh38)
16:56665911 (GRCh37)
Canonical SPDI:: NC_000016.10:56631998:G:A,NC_000016.10:56631998:G:C
Gene:: MT1M (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.56631999G>A, NC_000016.10:g.56631999G>C, NC_000016.9:g.56665911G>A, NC_000016.9:g.56665911G>C, NG_030326.1:g.4378G>A, NG_030326.1:g.4378G>C

Select item 14906258282.

rs1490625828 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:56634175 (GRCh38)
16:56668087 (GRCh37)
Canonical SPDI:: NC_000016.10:56634174:CC:C
Gene:: MT1JP (Varview), MT1M (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.56634176del, NC_000016.9:g.56668088del, NG_030326.1:g.6555del

Select item 14901734023.

rs1490173402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56632556 (GRCh38)
16:56666468 (GRCh37)
Canonical SPDI:: NC_000016.10:56632555:G:A
Gene:: MT1M (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.56632556G>A, NC_000016.9:g.56666468G>A, NG_030326.1:g.4935G>A

Select item 14901383054.

rs1490138305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56634107 (GRCh38)
16:56668019 (GRCh37)
Canonical SPDI:: NC_000016.10:56634106:C:T
Gene:: MT1JP (Varview), MT1M (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.56634107C>T, NC_000016.9:g.56668019C>T, NG_030326.1:g.6486C>T

Select item 14896540965.

rs1489654096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56630635 (GRCh38)
16:56664547 (GRCh37)
Canonical SPDI:: NC_000016.10:56630634:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56630635T>C, NC_000016.9:g.56664547T>C, NG_030326.1:g.3014T>C

Select item 14881950006.

rs1488195000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:56632144 (GRCh38)
16:56666056 (GRCh37)
Canonical SPDI:: NC_000016.10:56632143:G:A,NC_000016.10:56632143:G:T
Gene:: MT1M (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.56632144G>A, NC_000016.10:g.56632144G>T, NC_000016.9:g.56666056G>A, NC_000016.9:g.56666056G>T, NG_030326.1:g.4523G>A, NG_030326.1:g.4523G>T

Select item 14874995747.

rs1487499574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56633488 (GRCh38)
16:56667400 (GRCh37)
Canonical SPDI:: NC_000016.10:56633487:C:T
Gene:: MT1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56633488C>T, NC_000016.9:g.56667400C>T, NG_030326.1:g.5867C>T

Select item 14874660068.

rs1487466006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56631943 (GRCh38)
16:56665855 (GRCh37)
Canonical SPDI:: NC_000016.10:56631942:C:T
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.56631943C>T, NC_000016.9:g.56665855C>T, NG_030326.1:g.4322C>T

Select item 14871120949.

rs1487112094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:56631357 (GRCh38)
16:56665269 (GRCh37)
Canonical SPDI:: NC_000016.10:56631356:C:A
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.56631357C>A, NC_000016.9:g.56665269C>A, NG_030326.1:g.3736C>A

Select item 148680523310.

rs1486805233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:56632493 (GRCh38)
16:56666405 (GRCh37)
Canonical SPDI:: NC_000016.10:56632492:C:G,NC_000016.10:56632492:C:T
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.56632493C>G, NC_000016.10:g.56632493C>T, NC_000016.9:g.56666405C>G, NC_000016.9:g.56666405C>T, NG_030326.1:g.4872C>G, NG_030326.1:g.4872C>T

Select item 148645262511.

rs1486452625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56632132 (GRCh38)
16:56666044 (GRCh37)
Canonical SPDI:: NC_000016.10:56632131:C:T
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.56632132C>T, NC_000016.9:g.56666044C>T, NG_030326.1:g.4511C>T

Select item 148642751812.

rs1486427518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:56633782 (GRCh38)
16:56667694 (GRCh37)
Canonical SPDI:: NC_000016.10:56633781:C:G
Gene:: MT1JP (Varview), MT1M (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.56633782C>G, NC_000016.9:g.56667694C>G, NG_030326.1:g.6161C>G, NM_176870.3:c.126C>G, NM_176870.2:c.126C>G

Select item 148637846213.

rs1486378462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:56631427 (GRCh38)
16:56665339 (GRCh37)
Canonical SPDI:: NC_000016.10:56631426:A:T
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.56631427A>T, NC_000016.9:g.56665339A>T, NG_030326.1:g.3806A>T

Select item 148590344014.

rs1485903440 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:56632441 (GRCh38)
16:56666354 (GRCh37)
Canonical SPDI:: NC_000016.10:56632441::T
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000016.10:g.56632441_56632442insT, NC_000016.9:g.56666353_56666354insT, NG_030326.1:g.4820_4821insT

Select item 148546817715.

rs1485468177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:56632426 (GRCh38)
16:56666338 (GRCh37)
Canonical SPDI:: NC_000016.10:56632425:C:G
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56632426C>G, NC_000016.9:g.56666338C>G, NG_030326.1:g.4805C>G

Select item 148524375316.

rs1485243753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:56633102 (GRCh38)
16:56667014 (GRCh37)
Canonical SPDI:: NC_000016.10:56633101:G:A,NC_000016.10:56633101:G:C
Gene:: MT1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.56633102G>A, NC_000016.10:g.56633102G>C, NC_000016.9:g.56667014G>A, NC_000016.9:g.56667014G>C, NG_030326.1:g.5481G>A, NG_030326.1:g.5481G>C

Select item 148492038417.

rs1484920384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56632694 (GRCh38)
16:56666606 (GRCh37)
Canonical SPDI:: NC_000016.10:56632693:T:C
Gene:: MT1M (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56632694T>C, NC_000016.9:g.56666606T>C, NG_030326.1:g.5073T>C, NM_176870.3:c.-38T>C, NM_176870.2:c.-38T>C

Select item 148431583518.

rs1484315835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56634262 (GRCh38)
16:56668174 (GRCh37)
Canonical SPDI:: NC_000016.10:56634261:G:A
Gene:: MT1JP (Varview), MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_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_000016.10:g.56634262G>A, NC_000016.9:g.56668174G>A, NG_030326.1:g.6641G>A

Select item 148367236919.

rs1483672369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:56633199 (GRCh38)
16:56667111 (GRCh37)
Canonical SPDI:: NC_000016.10:56633198:A:G
Gene:: MT1M (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.56633199A>G, NC_000016.9:g.56667111A>G, NG_030326.1:g.5578A>G

Select item 148365497320.

rs1483654973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56630861 (GRCh38)
16:56664773 (GRCh37)
Canonical SPDI:: NC_000016.10:56630860:C:T
Gene:: MT1M (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56630861C>T, NC_000016.9:g.56664773C>T, NG_030326.1:g.3240C>T

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