SNP Links for Nucleotide (Select 62420876) - SNP

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Links from Nucleotide

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Select item 14887211751.

rs1488721175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51353206 (GRCh38)
19:51856460 (GRCh37)
Canonical SPDI:: NC_000019.10:51353205:G:A
Gene:: ETFB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51353206G>A, NC_000019.9:g.51856460G>A, NG_007115.1:g.18213C>T, NM_001985.3:c.301C>T, NM_001985.2:c.301C>T, NM_001014763.1:c.574C>T, XM_024451418.2:c.190C>T, XM_024451418.1:c.190C>T, NP_001976.1:p.Pro101Ser, NP_001014763.1:p.Pro192Ser, XP_024307186.1:p.Pro64Ser

Select item 14881011142.

rs1488101114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51354309 (GRCh38)
19:51857563 (GRCh37)
Canonical SPDI:: NC_000019.10:51354308:C:T
Gene:: ETFB (Varview)
Functional Consequence:: splice_acceptor_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51354309C>T, NC_000019.9:g.51857563C>T, NG_007115.1:g.17110G>A, NM_001014763.1:c.330G>A

Select item 14876333823.

rs1487633382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51346905 (GRCh38)
19:51850159 (GRCh37)
Canonical SPDI:: NC_000019.10:51346904:T:C
Gene:: ETFB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51346905T>C, NC_000019.9:g.51850159T>C, NG_007115.1:g.24514A>G, NM_001985.3:c.592A>G, NM_001985.2:c.592A>G, NM_001014763.1:c.865A>G, XM_024451418.2:c.481A>G, XM_024451418.1:c.481A>G, NP_001976.1:p.Ile198Val, NP_001014763.1:p.Ile289Val, XP_024307186.1:p.Ile161Val

Select item 14874927444.

rs1487492744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51354606 (GRCh38)
19:51857860 (GRCh37)
Canonical SPDI:: NC_000019.10:51354605:A:G
Gene:: ETFB (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51354606A>G, NC_000019.9:g.51857860A>G, NG_007115.1:g.16813T>C, NM_001014763.1:c.33T>C

Select item 14780244745.

rs1478024474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51354676 (GRCh38)
19:51857930 (GRCh37)
Canonical SPDI:: NC_000019.10:51354675:A:G
Gene:: ETFB (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51354676A>G, NC_000019.9:g.51857930A>G, NG_007115.1:g.16743T>C, NM_001014763.1:c.-38T>C

Select item 14758526936.

rs1475852693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:51345253 (GRCh38)
19:51848507 (GRCh37)
Canonical SPDI:: NC_000019.10:51345252:A:C,NC_000019.10:51345252:A:G
Gene:: ETFB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000069/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.51345253A>C, NC_000019.10:g.51345253A>G, NC_000019.9:g.51848507A>C, NC_000019.9:g.51848507A>G, NG_007115.1:g.26166T>G, NG_007115.1:g.26166T>C, NM_001985.3:c.726T>G, NM_001985.3:c.726T>C, NM_001985.2:c.726T>G, NM_001985.2:c.726T>C, NM_001014763.1:c.999T>G, NM_001014763.1:c.999T>C, XM_024451418.2:c.615T>G, XM_024451418.2:c.615T>C, XM_024451418.1:c.615T>G, XM_024451418.1:c.615T>C

Select item 14755124817.

rs1475512481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:51354763 (GRCh38)
19:51858017 (GRCh37)
Canonical SPDI:: NC_000019.10:51354762:T:G
Gene:: ETFB (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51354763T>G, NC_000019.9:g.51858017T>G, NG_007115.1:g.16656A>C, NM_001014763.1:c.-125A>C

Select item 14749420048.

rs1474942004 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:51345347 (GRCh38)
19:51848601 (GRCh37)
Canonical SPDI:: NC_000019.10:51345346:GG:G
Gene:: ETFB (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51345348del, NC_000019.9:g.51848602del, NG_007115.1:g.26072del, NM_001985.3:c.632del, NM_001985.2:c.632del, NM_001014763.1:c.905del, XM_024451418.2:c.521del, XM_024451418.1:c.521del, NP_001976.1:p.Pro211fs, NP_001014763.1:p.Pro302fs, XP_024307186.1:p.Pro174fs

Select item 14748179859.

rs1474817985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51354782 (GRCh38)
19:51858036 (GRCh37)
Canonical SPDI:: NC_000019.10:51354781:G:A
Gene:: ETFB (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51354782G>A, NC_000019.9:g.51858036G>A, NG_007115.1:g.16637C>T, NM_001014763.1:c.-144C>T

Select item 147383491310.

rs1473834913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:51354250 (GRCh38)
19:51857504 (GRCh37)
Canonical SPDI:: NC_000019.10:51354249:T:A
Gene:: ETFB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51354250T>A, NC_000019.9:g.51857504T>A, NG_007115.1:g.17169A>T, NM_001985.3:c.116A>T, NM_001985.2:c.116A>T, NM_001014763.1:c.389A>T, XM_024451418.2:c.5A>T, XM_024451418.1:c.5A>T, NP_001976.1:p.Asn39Ile, NP_001014763.1:p.Asn130Ile, XP_024307186.1:p.Asn2Ile

Select item 147234289311.

rs1472342893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51353139 (GRCh38)
19:51856393 (GRCh37)
Canonical SPDI:: NC_000019.10:51353138:C:T
Gene:: ETFB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51353139C>T, NC_000019.9:g.51856393C>T, NG_007115.1:g.18280G>A, NM_001985.3:c.368G>A, NM_001985.2:c.368G>A, NM_001014763.1:c.641G>A, XM_024451418.2:c.257G>A, XM_024451418.1:c.257G>A, NP_001976.1:p.Gly123Asp, NP_001014763.1:p.Gly214Asp, XP_024307186.1:p.Gly86Asp

Select item 147096312312.

rs1470963123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:51345266 (GRCh38)
19:51848520 (GRCh37)
Canonical SPDI:: NC_000019.10:51345265:T:G
Gene:: ETFB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51345266T>G, NC_000019.9:g.51848520T>G, NG_007115.1:g.26153A>C, NM_001985.3:c.713A>C, NM_001985.2:c.713A>C, NM_001014763.1:c.986A>C, XM_024451418.2:c.602A>C, XM_024451418.1:c.602A>C, NP_001976.1:p.Lys238Thr, NP_001014763.1:p.Lys329Thr, XP_024307186.1:p.Lys201Thr

Select item 146612094713.

rs1466120947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51354464 (GRCh38)
19:51857718 (GRCh37)
Canonical SPDI:: NC_000019.10:51354463:G:A
Gene:: ETFB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000019.10:g.51354464G>A, NC_000019.9:g.51857718G>A, NG_007115.1:g.16955C>T, NM_001014763.1:c.175C>T, NP_001014763.1:p.Pro59Ser

Select item 146530147414.

rs1465301474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51354202 (GRCh38)
19:51857456 (GRCh37)
Canonical SPDI:: NC_000019.10:51354201:T:C
Gene:: ETFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51354202T>C, NC_000019.9:g.51857456T>C, NG_007115.1:g.17217A>G, NM_001985.3:c.164A>G, NM_001985.2:c.164A>G, NM_001014763.1:c.437A>G, XM_024451418.2:c.53A>G, XM_024451418.1:c.53A>G, NP_001976.1:p.Lys55Arg, NP_001014763.1:p.Lys146Arg, XP_024307186.1:p.Lys18Arg

Select item 145487767015.

rs1454877670 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:51346956 (GRCh38)
19:51850210 (GRCh37)
Canonical SPDI:: NC_000019.10:51346955:CC:C
Gene:: ETFB (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.51346957del, NC_000019.9:g.51850211del, NG_007115.1:g.24463del, NM_001985.3:c.541del, NM_001985.2:c.541del, NM_001014763.1:c.814del, XM_024451418.2:c.430del, XM_024451418.1:c.430del, NP_001976.1:p.Val180_Val181insTer, NP_001014763.1:p.Val271_Val272insTer, XP_024307186.1:p.Val143_Val144insTer

Select item 145485588816.

rs1454855888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51350382 (GRCh38)
19:51853636 (GRCh37)
Canonical SPDI:: NC_000019.10:51350381:C:T
Gene:: ETFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.51350382C>T, NC_000019.9:g.51853636C>T, NG_007115.1:g.21037G>A, NM_001985.3:c.385G>A, NM_001985.2:c.385G>A, NM_001014763.1:c.658G>A, XM_024451418.2:c.274G>A, XM_024451418.1:c.274G>A, NP_001976.1:p.Asp129Asn, NP_001014763.1:p.Asp220Asn, XP_024307186.1:p.Asp92Asn

Select item 145288701517.

rs1452887015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51354615 (GRCh38)
19:51857869 (GRCh37)
Canonical SPDI:: NC_000019.10:51354614:G:A
Gene:: ETFB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51354615G>A, NC_000019.9:g.51857869G>A, NG_007115.1:g.16804C>T, NM_001014763.1:c.24C>T

Select item 144865344618.

rs1448653446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51354657 (GRCh38)
19:51857911 (GRCh37)
Canonical SPDI:: NC_000019.10:51354656:G:A
Gene:: ETFB (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.51354657G>A, NC_000019.9:g.51857911G>A, NG_007115.1:g.16762C>T, NM_001014763.1:c.-19C>T

Select item 144793103519.

rs1447931035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51354351 (GRCh38)
19:51857605 (GRCh37)
Canonical SPDI:: NC_000019.10:51354350:G:A
Gene:: ETFB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51354351G>A, NC_000019.9:g.51857605G>A, NG_007115.1:g.17068C>T, NM_001014763.1:c.288C>T

Select item 144669653620.

rs1446696536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:51346936 (GRCh38)
19:51850190 (GRCh37)
Canonical SPDI:: NC_000019.10:51346935:G:C
Gene:: ETFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.51346936G>C, NC_000019.9:g.51850190G>C, NG_007115.1:g.24483C>G, NM_001985.3:c.561C>G, NM_001985.2:c.561C>G, NM_001014763.1:c.834C>G, XM_024451418.2:c.450C>G, XM_024451418.1:c.450C>G

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