SNP Links for Nucleotide (Select 548923783) - SNP

Links from Nucleotide

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Select item 14906442621.

rs1490644262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:100526983 (GRCh38)
10:102286740 (GRCh37)
Canonical SPDI:: NC_000010.11:100526982:C:A
Gene:: NDUFB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100526983C>A, NC_000010.10:g.102286740C>A, NM_005004.4:c.304G>T, NM_005004.3:c.304G>T, NM_005004.2:c.304G>T, NM_001284367.2:c.304G>T, NM_001284367.1:c.304G>T, NM_001284368.1:c.211G>T, NP_004995.1:p.Gly102Cys, NP_001271296.1:p.Gly102Cys, NP_001271297.1:p.Gly71Cys

Select item 14896561552.

rs1489656155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:100526477 (GRCh38)
10:102286234 (GRCh37)
Canonical SPDI:: NC_000010.11:100526476:A:G,NC_000010.11:100526476:A:T
Gene:: NDUFB8 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100526477A>G, NC_000010.11:g.100526477A>T, NC_000010.10:g.102286234A>G, NC_000010.10:g.102286234A>T, NM_005004.4:c.390T>C, NM_005004.4:c.390T>A, NM_005004.3:c.390T>C, NM_005004.3:c.390T>A, NM_005004.2:c.390T>C, NM_005004.2:c.390T>A, NM_001284367.2:c.390T>C, NM_001284367.2:c.390T>A, NM_001284367.1:c.390T>C, NM_001284367.1:c.390T>A, NM_001284368.1:c.297T>C, NM_001284368.1:c.297T>A, NP_004995.1:p.Cys130Ter, NP_001271296.1:p.Cys130Ter, NP_001271297.1:p.Cys99Ter

Select item 14816082793.

rs1481608279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100526403 (GRCh38)
10:102286160 (GRCh37)
Canonical SPDI:: NC_000010.11:100526402:G:A
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100526403G>A, NC_000010.10:g.102286160G>A, NM_005004.4:c.464C>T, NM_005004.3:c.464C>T, NM_005004.2:c.464C>T, NM_001284367.2:c.464C>T, NM_001284367.1:c.464C>T, NM_001284368.1:c.371C>T, NP_004995.1:p.Pro155Leu, NP_001271296.1:p.Pro155Leu, NP_001271297.1:p.Pro124Leu

Select item 14795974394.

rs1479597439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100529898 (GRCh38)
10:102289655 (GRCh37)
Canonical SPDI:: NC_000010.11:100529897:C:T
Gene:: NDUFB8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100529898C>T, NC_000010.10:g.102289655C>T, NM_005004.3:c.-47G>A, NM_001284367.1:c.-47G>A, NM_001284368.1:c.-49G>A

Select item 14767698295.

rs1476769829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100526408 (GRCh38)
10:102286165 (GRCh37)
Canonical SPDI:: NC_000010.11:100526407:G:A
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.100526408G>A, NC_000010.10:g.102286165G>A, NM_005004.4:c.459C>T, NM_005004.3:c.459C>T, NM_005004.2:c.459C>T, NM_001284367.2:c.459C>T, NM_001284367.1:c.459C>T, NM_001284368.1:c.366C>T

Select item 14657607926.

rs1465760792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:100526505 (GRCh38)
10:102286262 (GRCh37)
Canonical SPDI:: NC_000010.11:100526504:G:C
Gene:: NDUFB8 (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=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100526505G>C, NC_000010.10:g.102286262G>C, NM_005004.4:c.362C>G, NM_005004.3:c.362C>G, NM_005004.2:c.362C>G, NM_001284367.2:c.362C>G, NM_001284367.1:c.362C>G, NM_001284368.1:c.269C>G, NP_004995.1:p.Pro121Arg, NP_001271296.1:p.Pro121Arg, NP_001271297.1:p.Pro90Arg

Select item 14655954197.

rs1465595419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100529861 (GRCh38)
10:102289618 (GRCh37)
Canonical SPDI:: NC_000010.11:100529860:C:T
Gene:: NDUFB8 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.100529861C>T, NC_000010.10:g.102289618C>T, NM_005004.4:c.-10G>A, NM_005004.3:c.-10G>A, NM_005004.2:c.-10G>A, NM_001284367.2:c.-10G>A, NM_001284367.1:c.-10G>A, NM_001284368.1:c.-12G>A

Select item 14626453058.

rs1462645305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100527033 (GRCh38)
10:102286790 (GRCh37)
Canonical SPDI:: NC_000010.11:100527032:T:C
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100527033T>C, NC_000010.10:g.102286790T>C, NM_005004.4:c.254A>G, NM_005004.3:c.254A>G, NM_005004.2:c.254A>G, NM_001284367.2:c.254A>G, NM_001284367.1:c.254A>G, NM_001284368.1:c.161A>G, NP_004995.1:p.Glu85Gly, NP_001271296.1:p.Glu85Gly, NP_001271297.1:p.Glu54Gly

Select item 14575127069.

rs1457512706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100526545 (GRCh38)
10:102286302 (GRCh37)
Canonical SPDI:: NC_000010.11:100526544:G:A
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.100526545G>A, NC_000010.10:g.102286302G>A, NM_005004.4:c.322C>T, NM_005004.3:c.322C>T, NM_005004.2:c.322C>T, NM_001284367.2:c.322C>T, NM_001284367.1:c.322C>T, NM_001284368.1:c.229C>T, NP_004995.1:p.His108Tyr, NP_001271296.1:p.His108Tyr, NP_001271297.1:p.His77Tyr

Select item 144731743510.

rs1447317435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:100523908 (GRCh38)
10:102283665 (GRCh37)
Canonical SPDI:: NC_000010.11:100523907:T:G
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100523908T>G, NC_000010.10:g.102283665T>G, NM_005004.4:c.490A>C, NM_005004.3:c.490A>C, NM_005004.2:c.490A>C, NM_001284367.2:c.*181A>C, NM_001284367.1:c.*181A>C, NM_001284368.1:c.397A>C, NP_004995.1:p.Asn164His, NP_001271297.1:p.Asn133His

Select item 144346317611.

rs1443463176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100526424 (GRCh38)
10:102286181 (GRCh37)
Canonical SPDI:: NC_000010.11:100526423:T:C
Gene:: NDUFB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.100526424T>C, NC_000010.10:g.102286181T>C, NM_005004.4:c.443A>G, NM_005004.3:c.443A>G, NM_005004.2:c.443A>G, NM_001284367.2:c.443A>G, NM_001284367.1:c.443A>G, NM_001284368.1:c.350A>G, NP_004995.1:p.Asp148Gly, NP_001271296.1:p.Asp148Gly, NP_001271297.1:p.Asp117Gly

Select item 144050015412.

rs1440500154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100529862 (GRCh38)
10:102289619 (GRCh37)
Canonical SPDI:: NC_000010.11:100529861:T:C
Gene:: NDUFB8 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100529862T>C, NC_000010.10:g.102289619T>C, NM_005004.4:c.-11A>G, NM_005004.3:c.-11A>G, NM_005004.2:c.-11A>G, NM_001284367.2:c.-11A>G, NM_001284367.1:c.-11A>G, NM_001284368.1:c.-13A>G

Select item 143663510113.

rs1436635101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100523858 (GRCh38)
10:102283615 (GRCh37)
Canonical SPDI:: NC_000010.11:100523857:C:T
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100523858C>T, NC_000010.10:g.102283615C>T, NM_005004.4:c.540G>A, NM_005004.3:c.540G>A, NM_005004.2:c.540G>A, NM_001284367.2:c.*231G>A, NM_001284367.1:c.*231G>A, NM_001284368.1:c.447G>A

Select item 143227152214.

rs1432271522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:100523919 (GRCh38)
10:102283676 (GRCh37)
Canonical SPDI:: NC_000010.11:100523918:T:G
Gene:: NDUFB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.100523919T>G, NC_000010.10:g.102283676T>G, NM_005004.4:c.479A>C, NM_005004.3:c.479A>C, NM_005004.2:c.479A>C, NM_001284367.2:c.*170A>C, NM_001284367.1:c.*170A>C, NM_001284368.1:c.386A>C, NP_004995.1:p.Gln160Pro, NP_001271297.1:p.Gln129Pro

Select item 143119401115.

rs1431194011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100529441 (GRCh38)
10:102289198 (GRCh37)
Canonical SPDI:: NC_000010.11:100529440:C:T
Gene:: NDUFB8 (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_000010.11:g.100529441C>T, NC_000010.10:g.102289198C>T, NM_005004.4:c.151G>A, NM_005004.3:c.151G>A, NM_005004.2:c.151G>A, NM_001284367.2:c.151G>A, NM_001284367.1:c.151G>A, NM_001284368.1:c.58G>A, NP_004995.1:p.Ala51Thr, NP_001271296.1:p.Ala51Thr, NP_001271297.1:p.Ala20Thr

Select item 141929265316.

rs1419292653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100523882 (GRCh38)
10:102283639 (GRCh37)
Canonical SPDI:: NC_000010.11:100523881:A:G
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.100523882A>G, NC_000010.10:g.102283639A>G, NM_005004.4:c.516T>C, NM_005004.3:c.516T>C, NM_005004.2:c.516T>C, NM_001284367.2:c.*207T>C, NM_001284367.1:c.*207T>C, NM_001284368.1:c.423T>C

Select item 141727259317.

rs1417272593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:100523896 (GRCh38)
10:102283653 (GRCh37)
Canonical SPDI:: NC_000010.11:100523895:G:C
Gene:: NDUFB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100523896G>C, NC_000010.10:g.102283653G>C, NM_005004.4:c.502C>G, NM_005004.3:c.502C>G, NM_005004.2:c.502C>G, NM_001284367.2:c.*193C>G, NM_001284367.1:c.*193C>G, NM_001284368.1:c.409C>G, NP_004995.1:p.Leu168Val, NP_001271297.1:p.Leu137Val

Select item 141711824118.

rs1417118241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100527025 (GRCh38)
10:102286782 (GRCh37)
Canonical SPDI:: NC_000010.11:100527024:G:A
Gene:: NDUFB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.100527025G>A, NC_000010.10:g.102286782G>A, NM_005004.4:c.262C>T, NM_005004.3:c.262C>T, NM_005004.2:c.262C>T, NM_001284367.2:c.262C>T, NM_001284367.1:c.262C>T, NM_001284368.1:c.169C>T, NP_004995.1:p.Pro88Ser, NP_001271296.1:p.Pro88Ser, NP_001271297.1:p.Pro57Ser

Select item 141452954019.

rs1414529540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100527016 (GRCh38)
10:102286773 (GRCh37)
Canonical SPDI:: NC_000010.11:100527015:T:C
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.100527016T>C, NC_000010.10:g.102286773T>C, NM_005004.4:c.271A>G, NM_005004.3:c.271A>G, NM_005004.2:c.271A>G, NM_001284367.2:c.271A>G, NM_001284367.1:c.271A>G, NM_001284368.1:c.178A>G, NP_004995.1:p.Ser91Gly, NP_001271296.1:p.Ser91Gly, NP_001271297.1:p.Ser60Gly

Select item 141220157420.

rs1412201574 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:100526481 (GRCh38)
10:102286238 (GRCh37)
Canonical SPDI:: NC_000010.11:100526480:AT:
Gene:: NDUFB8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.100526481_100526482del, NC_000010.10:g.102286238_102286239del, NM_005004.4:c.385_386del, NM_005004.3:c.385_386del, NM_005004.2:c.385_386del, NM_001284367.2:c.385_386del, NM_001284367.1:c.385_386del, NM_001284368.1:c.292_293del, NP_004995.1:p.Met129fs, NP_001271296.1:p.Met129fs, NP_001271297.1:p.Met98fs

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