SNP Links for Protein (Select 578834946) - SNP

Links from Protein

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Select item 14903426581.

rs1490342658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45553531 (GRCh38)
19:46056789 (GRCh37)
Canonical SPDI:: NC_000019.10:45553530:G:C
Gene:: OPA3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45553531G>C, NC_000019.9:g.46056789G>C, NG_013332.1:g.36334C>G, NM_025136.4:c.523C>G, NM_025136.3:c.523C>G, XM_006723403.5:c.364C>G, XM_006723403.4:c.364C>G, XM_006723403.3:c.364C>G, XM_006723403.2:c.364C>G, XM_006723403.1:c.364C>G, NP_079412.1:p.Pro175Ala, XP_006723466.1:p.Pro122Ala

Select item 14898560752.

rs1489856075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:45553756 (GRCh38)
19:46057014 (GRCh37)
Canonical SPDI:: NC_000019.10:45553755:C:A
Gene:: OPA3 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45553756C>A, NC_000019.9:g.46057014C>A, NG_013332.1:g.36109G>T, NM_025136.4:c.298G>T, NM_025136.3:c.298G>T, XM_006723403.5:c.139G>T, XM_006723403.4:c.139G>T, XM_006723403.3:c.139G>T, XM_006723403.2:c.139G>T, XM_006723403.1:c.139G>T, NP_079412.1:p.Glu100Ter, XP_006723466.1:p.Glu47Ter

Select item 14850687053.

rs1485068705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:45553597 (GRCh38)
19:46056855 (GRCh37)
Canonical SPDI:: NC_000019.10:45553596:G:T
Gene:: OPA3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45553597G>T, NC_000019.9:g.46056855G>T, NG_013332.1:g.36268C>A, NM_025136.4:c.457C>A, NM_025136.3:c.457C>A, XM_006723403.5:c.298C>A, XM_006723403.4:c.298C>A, XM_006723403.3:c.298C>A, XM_006723403.2:c.298C>A, XM_006723403.1:c.298C>A, NP_079412.1:p.Arg153Ser, XP_006723466.1:p.Arg100Ser

Select item 14788950444.

rs1478895044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:45553772 (GRCh38)
19:46057030 (GRCh37)
Canonical SPDI:: NC_000019.10:45553771:G:A,NC_000019.10:45553771:G:T
Gene:: OPA3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45553772G>A, NC_000019.10:g.45553772G>T, NC_000019.9:g.46057030G>A, NC_000019.9:g.46057030G>T, NG_013332.1:g.36093C>T, NG_013332.1:g.36093C>A, NM_025136.4:c.282C>T, NM_025136.4:c.282C>A, NM_025136.3:c.282C>T, NM_025136.3:c.282C>A, XM_006723403.5:c.123C>T, XM_006723403.5:c.123C>A, XM_006723403.4:c.123C>T, XM_006723403.4:c.123C>A, XM_006723403.3:c.123C>T, XM_006723403.3:c.123C>A, XM_006723403.2:c.123C>T, XM_006723403.2:c.123C>A, XM_006723403.1:c.123C>T, XM_006723403.1:c.123C>A

Select item 14755685265.

rs1475568526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45553837 (GRCh38)
19:46057095 (GRCh37)
Canonical SPDI:: NC_000019.10:45553836:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45553837C>T, NC_000019.9:g.46057095C>T, NG_013332.1:g.36028G>A, NM_025136.4:c.217G>A, NM_025136.3:c.217G>A, XM_006723403.5:c.58G>A, XM_006723403.4:c.58G>A, XM_006723403.3:c.58G>A, XM_006723403.2:c.58G>A, XM_006723403.1:c.58G>A, NP_079412.1:p.Glu73Lys, XP_006723466.1:p.Glu20Lys

Select item 14661155916.

rs1466115591 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:45553826 (GRCh38)
19:46057085 (GRCh37)
Canonical SPDI:: NC_000019.10:45553826:G:GG
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45553827dup, NC_000019.9:g.46057085dup, NG_013332.1:g.36038dup, NM_025136.4:c.227dup, NM_025136.3:c.227dup, XM_006723403.5:c.68dup, XM_006723403.4:c.68dup, XM_006723403.3:c.68dup, XM_006723403.2:c.68dup, XM_006723403.1:c.68dup, NP_079412.1:p.Ala77fs, XP_006723466.1:p.Ala24fs

Select item 14581066217.

rs1458106621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45553767 (GRCh38)
19:46057025 (GRCh37)
Canonical SPDI:: NC_000019.10:45553766:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.45553767C>T, NC_000019.9:g.46057025C>T, NG_013332.1:g.36098G>A, NM_025136.4:c.287G>A, NM_025136.3:c.287G>A, XM_006723403.5:c.128G>A, XM_006723403.4:c.128G>A, XM_006723403.3:c.128G>A, XM_006723403.2:c.128G>A, XM_006723403.1:c.128G>A, NP_079412.1:p.Cys96Tyr, XP_006723466.1:p.Cys43Tyr

Select item 14530780998.

rs1453078099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45553824 (GRCh38)
19:46057082 (GRCh37)
Canonical SPDI:: NC_000019.10:45553823:G:A,NC_000019.10:45553823:G:C
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45553824G>A, NC_000019.10:g.45553824G>C, NC_000019.9:g.46057082G>A, NC_000019.9:g.46057082G>C, NG_013332.1:g.36041C>T, NG_013332.1:g.36041C>G, NM_025136.4:c.230C>T, NM_025136.4:c.230C>G, NM_025136.3:c.230C>T, NM_025136.3:c.230C>G, XM_006723403.5:c.71C>T, XM_006723403.5:c.71C>G, XM_006723403.4:c.71C>T, XM_006723403.4:c.71C>G, XM_006723403.3:c.71C>T, XM_006723403.3:c.71C>G, XM_006723403.2:c.71C>T, XM_006723403.2:c.71C>G, XM_006723403.1:c.71C>T, XM_006723403.1:c.71C>G, NP_079412.1:p.Ala77Val, NP_079412.1:p.Ala77Gly, XP_006723466.1:p.Ala24Val, XP_006723466.1:p.Ala24Gly

Select item 14514164509.

rs1451416450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45553847 (GRCh38)
19:46057105 (GRCh37)
Canonical SPDI:: NC_000019.10:45553846:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45553847C>T, NC_000019.9:g.46057105C>T, NG_013332.1:g.36018G>A, NM_025136.4:c.207G>A, NM_025136.3:c.207G>A, XM_006723403.5:c.48G>A, XM_006723403.4:c.48G>A, XM_006723403.3:c.48G>A, XM_006723403.2:c.48G>A, XM_006723403.1:c.48G>A

Select item 143726354910.

rs1437263549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45553750 (GRCh38)
19:46057008 (GRCh37)
Canonical SPDI:: NC_000019.10:45553749:A:G
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45553750A>G, NC_000019.9:g.46057008A>G, NG_013332.1:g.36115T>C, NM_025136.4:c.304T>C, NM_025136.3:c.304T>C, XM_006723403.5:c.145T>C, XM_006723403.4:c.145T>C, XM_006723403.3:c.145T>C, XM_006723403.2:c.145T>C, XM_006723403.1:c.145T>C, NP_079412.1:p.Trp102Arg, XP_006723466.1:p.Trp49Arg

Select item 143166935611.

rs1431669356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45553855 (GRCh38)
19:46057113 (GRCh37)
Canonical SPDI:: NC_000019.10:45553854:C:A,NC_000019.10:45553854:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45553855C>A, NC_000019.10:g.45553855C>T, NC_000019.9:g.46057113C>A, NC_000019.9:g.46057113C>T, NG_013332.1:g.36010G>T, NG_013332.1:g.36010G>A, NM_025136.4:c.199G>T, NM_025136.4:c.199G>A, NM_025136.3:c.199G>T, NM_025136.3:c.199G>A, XM_006723403.5:c.40G>T, XM_006723403.5:c.40G>A, XM_006723403.4:c.40G>T, XM_006723403.4:c.40G>A, XM_006723403.3:c.40G>T, XM_006723403.3:c.40G>A, XM_006723403.2:c.40G>T, XM_006723403.2:c.40G>A, XM_006723403.1:c.40G>T, XM_006723403.1:c.40G>A, NP_079412.1:p.Val67Phe, NP_079412.1:p.Val67Ile, XP_006723466.1:p.Val14Phe, XP_006723466.1:p.Val14Ile

Select item 142711563212.

rs1427115632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45553538 (GRCh38)
19:46056796 (GRCh37)
Canonical SPDI:: NC_000019.10:45553537:G:A,NC_000019.10:45553537:G:C
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by cluster
HGVS:: NC_000019.10:g.45553538G>A, NC_000019.10:g.45553538G>C, NC_000019.9:g.46056796G>A, NC_000019.9:g.46056796G>C, NG_013332.1:g.36327C>T, NG_013332.1:g.36327C>G, NM_025136.4:c.516C>T, NM_025136.4:c.516C>G, NM_025136.3:c.516C>T, NM_025136.3:c.516C>G, XM_006723403.5:c.357C>T, XM_006723403.5:c.357C>G, XM_006723403.4:c.357C>T, XM_006723403.4:c.357C>G, XM_006723403.3:c.357C>T, XM_006723403.3:c.357C>G, XM_006723403.2:c.357C>T, XM_006723403.2:c.357C>G, XM_006723403.1:c.357C>T, XM_006723403.1:c.357C>G, NP_079412.1:p.His172Gln, XP_006723466.1:p.His119Gln

Select item 142539974313.

rs1425399743 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 19:45553615 (GRCh38)
19:46056873 (GRCh37)
Canonical SPDI:: NC_000019.10:45553613:CCC:C
Gene:: OPA3 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45553615_45553616del, NC_000019.9:g.46056873_46056874del, NG_013332.1:g.36250_36251del, NM_025136.4:c.439_440del, NM_025136.3:c.439_440del, XM_006723403.5:c.280_281del, XM_006723403.4:c.280_281del, XM_006723403.3:c.280_281del, XM_006723403.2:c.280_281del, XM_006723403.1:c.280_281del, NP_079412.1:p.Gly147fs, XP_006723466.1:p.Gly94fs

Select item 141839122614.

rs1418391226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45553778 (GRCh38)
19:46057036 (GRCh37)
Canonical SPDI:: NC_000019.10:45553777:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45553778C>T, NC_000019.9:g.46057036C>T, NG_013332.1:g.36087G>A, NM_025136.4:c.276G>A, NM_025136.3:c.276G>A, XM_006723403.5:c.117G>A, XM_006723403.4:c.117G>A, XM_006723403.3:c.117G>A, XM_006723403.2:c.117G>A, XM_006723403.1:c.117G>A

Select item 141411747115.

rs1414117471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45553705 (GRCh38)
19:46056963 (GRCh37)
Canonical SPDI:: NC_000019.10:45553704:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45553705C>T, NC_000019.9:g.46056963C>T, NG_013332.1:g.36160G>A, NM_025136.4:c.349G>A, NM_025136.3:c.349G>A, XM_006723403.5:c.190G>A, XM_006723403.4:c.190G>A, XM_006723403.3:c.190G>A, XM_006723403.2:c.190G>A, XM_006723403.1:c.190G>A, NP_079412.1:p.Ala117Thr, XP_006723466.1:p.Ala64Thr

Select item 141217671216.

rs1412176712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45553521 (GRCh38)
19:46056779 (GRCh37)
Canonical SPDI:: NC_000019.10:45553520:T:C
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.45553521T>C, NC_000019.9:g.46056779T>C, NG_013332.1:g.36344A>G, NM_025136.4:c.533A>G, NM_025136.3:c.533A>G, XM_006723403.5:c.374A>G, XM_006723403.4:c.374A>G, XM_006723403.3:c.374A>G, XM_006723403.2:c.374A>G, XM_006723403.1:c.374A>G, NP_079412.1:p.Lys178Arg, XP_006723466.1:p.Lys125Arg

Select item 140639967817.

rs1406399678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:45553686 (GRCh38)
19:46056944 (GRCh37)
Canonical SPDI:: NC_000019.10:45553685:C:A,NC_000019.10:45553685:C:G,NC_000019.10:45553685:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.45553686C>A, NC_000019.10:g.45553686C>G, NC_000019.10:g.45553686C>T, NC_000019.9:g.46056944C>A, NC_000019.9:g.46056944C>G, NC_000019.9:g.46056944C>T, NG_013332.1:g.36179G>T, NG_013332.1:g.36179G>C, NG_013332.1:g.36179G>A, NM_025136.4:c.368G>T, NM_025136.4:c.368G>C, NM_025136.4:c.368G>A, NM_025136.3:c.368G>T, NM_025136.3:c.368G>C, NM_025136.3:c.368G>A, XM_006723403.5:c.209G>T, XM_006723403.5:c.209G>C, XM_006723403.5:c.209G>A, XM_006723403.4:c.209G>T, XM_006723403.4:c.209G>C, XM_006723403.4:c.209G>A, XM_006723403.3:c.209G>T, XM_006723403.3:c.209G>C, XM_006723403.3:c.209G>A, XM_006723403.2:c.209G>T, XM_006723403.2:c.209G>C, XM_006723403.2:c.209G>A, XM_006723403.1:c.209G>T, XM_006723403.1:c.209G>C, XM_006723403.1:c.209G>A, NP_079412.1:p.Arg123Leu, NP_079412.1:p.Arg123Pro, NP_079412.1:p.Arg123Gln, XP_006723466.1:p.Arg70Leu, XP_006723466.1:p.Arg70Pro, XP_006723466.1:p.Arg70Gln

Select item 140634121618.

rs1406341216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:45553711 (GRCh38)
19:46056969 (GRCh37)
Canonical SPDI:: NC_000019.10:45553710:G:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45553711G>T, NC_000019.9:g.46056969G>T, NG_013332.1:g.36154C>A, NM_025136.4:c.343C>A, NM_025136.3:c.343C>A, XM_006723403.5:c.184C>A, XM_006723403.4:c.184C>A, XM_006723403.3:c.184C>A, XM_006723403.2:c.184C>A, XM_006723403.1:c.184C>A, NP_079412.1:p.Gln115Lys, XP_006723466.1:p.Gln62Lys

Select item 140566867019.

rs1405668670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45553673 (GRCh38)
19:46056931 (GRCh37)
Canonical SPDI:: NC_000019.10:45553672:G:A
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45553673G>A, NC_000019.9:g.46056931G>A, NG_013332.1:g.36192C>T, NM_025136.4:c.381C>T, NM_025136.3:c.381C>T, XM_006723403.5:c.222C>T, XM_006723403.4:c.222C>T, XM_006723403.3:c.222C>T, XM_006723403.2:c.222C>T, XM_006723403.1:c.222C>T

Select item 140010276920.

rs1400102769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45553674 (GRCh38)
19:46056932 (GRCh37)
Canonical SPDI:: NC_000019.10:45553673:C:T
Gene:: OPA3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45553674C>T, NC_000019.9:g.46056932C>T, NG_013332.1:g.36191G>A, NM_025136.4:c.380G>A, NM_025136.3:c.380G>A, XM_006723403.5:c.221G>A, XM_006723403.4:c.221G>A, XM_006723403.3:c.221G>A, XM_006723403.2:c.221G>A, XM_006723403.1:c.221G>A, NP_079412.1:p.Gly127Asp, XP_006723466.1:p.Gly74Asp

dbSNP

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