SNP Links for Gene (Select 4709) - SNP

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Select item 14914486391.

rs1491448639 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTCTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914358462.

rs1491435846 has merged into rs534968379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:201085453 (GRCh38)
2:201950176 (GRCh37)
Canonical SPDI:: NC_000002.12:201085443:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:201085443:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:201085443:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201085443:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201085443:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.025152/671 (ALFA)
T=0.001982/33 (TOMMO)
T=0.028263/7481 (TOPMED)
T=0.05/2 (GENOME_DK)
T=0.380769/99 (1000Genomes)
HGVS:: NC_000002.12:g.201085453_201085454del, NC_000002.12:g.201085454del, NC_000002.12:g.201085454dup, NC_000002.12:g.201085453_201085454dup, NC_000002.12:g.201085452_201085454dup, NC_000002.11:g.201950176_201950177del, NC_000002.11:g.201950177del, NC_000002.11:g.201950177dup, NC_000002.11:g.201950176_201950177dup, NC_000002.11:g.201950175_201950177dup, NG_032156.1:g.18715_18716del, NG_032156.1:g.18716del, NG_032156.1:g.18716dup, NG_032156.1:g.18715_18716dup, NG_032156.1:g.18714_18716dup

Select item 14910027303.

rs1491002730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:201081834 (GRCh38)
2:201946557 (GRCh37)
Canonical SPDI:: NC_000002.12:201081833:G:T
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00252/41 (ALFA)
T=0.07589/221 (KOREAN)
HGVS:: NC_000002.12:g.201081834G>T, NC_000002.11:g.201946557G>T, NG_032156.1:g.15096G>T

Select item 14909245284.

rs1490924528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201073502 (GRCh38)
2:201938225 (GRCh37)
Canonical SPDI:: NC_000002.12:201073501:C:T
Gene:: NDUFB3 (Varview), FAM126B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201073502C>T, NC_000002.11:g.201938225C>T, NG_032156.1:g.6764C>T

Select item 14907440875.

rs1490744087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201074536 (GRCh38)
2:201939259 (GRCh37)
Canonical SPDI:: NC_000002.12:201074535:A:G
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_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_000002.12:g.201074536A>G, NC_000002.11:g.201939259A>G, NG_032156.1:g.7798A>G

Select item 14906990706.

rs1490699070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:201079613 (GRCh38)
2:201944336 (GRCh37)
Canonical SPDI:: NC_000002.12:201079612:T:A
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.201079613T>A, NC_000002.11:g.201944336T>A, NG_032156.1:g.12875T>A

Select item 14903742837.

rs1490374283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:201085545 (GRCh38)
2:201950268 (GRCh37)
Canonical SPDI:: NC_000002.12:201085544:C:A
Gene:: NDUFB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201085545C>A, NC_000002.11:g.201950268C>A, NG_032156.1:g.18807C>A, NM_002491.3:c.227C>A, NM_002491.2:c.227C>A, NM_001257102.2:c.227C>A, NM_001257102.1:c.227C>A, XM_011511230.4:c.227C>A, XM_011511230.3:c.227C>A, XM_011511230.2:c.227C>A, XM_011511230.1:c.227C>A, XM_047444488.1:c.227C>A, NP_002482.1:p.Ala76Asp, NP_001244031.1:p.Ala76Asp, XP_011509532.1:p.Ala76Asp, XP_047300444.1:p.Ala76Asp

Select item 14903423288.

rs1490342328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:201080798 (GRCh38)
2:201945521 (GRCh37)
Canonical SPDI:: NC_000002.12:201080797:G:A
Gene:: NDUFB3 (Varview)
Functional Consequence:: 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_000002.12:g.201080798G>A, NC_000002.11:g.201945521G>A, NG_032156.1:g.14060G>A

Select item 14901771599.

rs1490177159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201082799 (GRCh38)
2:201947522 (GRCh37)
Canonical SPDI:: NC_000002.12:201082798:C:T
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201082799C>T, NC_000002.11:g.201947522C>T, NG_032156.1:g.16061C>T

Select item 149016204210.

rs1490162042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:201085209 (GRCh38)
2:201949932 (GRCh37)
Canonical SPDI:: NC_000002.12:201085208:G:C
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201085209G>C, NC_000002.11:g.201949932G>C, NG_032156.1:g.18471G>C

Select item 148988240011.

rs1489882400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201080804 (GRCh38)
2:201945527 (GRCh37)
Canonical SPDI:: NC_000002.12:201080803:C:T
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.201080804C>T, NC_000002.11:g.201945527C>T, NG_032156.1:g.14066C>T

Select item 148949501712.

rs1489495017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:201083272 (GRCh38)
2:201947995 (GRCh37)
Canonical SPDI:: NC_000002.12:201083271:G:T
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000002.12:g.201083272G>T, NC_000002.11:g.201947995G>T, NG_032156.1:g.16534G>T

Select item 148944289313.

rs1489442893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:201084182 (GRCh38)
2:201948905 (GRCh37)
Canonical SPDI:: NC_000002.12:201084181:G:C,NC_000002.12:201084181:G:T
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.201084182G>C, NC_000002.12:g.201084182G>T, NC_000002.11:g.201948905G>C, NC_000002.11:g.201948905G>T, NG_032156.1:g.17444G>C, NG_032156.1:g.17444G>T

Select item 148888775414.

rs1488887754 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAGAAAAA>- [Show Flanks]
Chromosome:: 2:201075189 (GRCh38)
2:201939912 (GRCh37)
Canonical SPDI:: NC_000002.12:201075183:AAAAAAAAAAAAGAAAAA:AAAAA
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.201075189_201075201del, NC_000002.11:g.201939912_201939924del, NG_032156.1:g.8451_8463del

Select item 148842707915.

rs1488427079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:201075421 (GRCh38)
2:201940144 (GRCh37)
Canonical SPDI:: NC_000002.12:201075420:C:A
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.201075421C>A, NC_000002.11:g.201940144C>A, NG_032156.1:g.8683C>A

Select item 148832654416.

rs1488326544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:201076368 (GRCh38)
2:201941091 (GRCh37)
Canonical SPDI:: NC_000002.12:201076367:G:C
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201076368G>C, NC_000002.11:g.201941091G>C, NG_032156.1:g.9630G>C

Select item 148822800717.

rs1488228007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:201069824 (GRCh38)
2:201934547 (GRCh37)
Canonical SPDI:: NC_000002.12:201069823:A:T
Gene:: FAM126B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000038/10 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.201069824A>T, NC_000002.11:g.201934547A>T, NG_032156.1:g.3086A>T

Select item 148819703718.

rs1488197037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201071877 (GRCh38)
2:201936600 (GRCh37)
Canonical SPDI:: NC_000002.12:201071876:A:G
Gene:: NDUFB3 (Varview), FAM126B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.201071877A>G, NC_000002.11:g.201936600A>G, NG_032156.1:g.5139A>G, NM_002491.2:c.-185A>G, NM_001257102.1:c.-208A>G

Select item 148810160019.

rs1488101600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201075112 (GRCh38)
2:201939835 (GRCh37)
Canonical SPDI:: NC_000002.12:201075111:A:G
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_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_000002.12:g.201075112A>G, NC_000002.11:g.201939835A>G, NG_032156.1:g.8374A>G

Select item 148802784320.

rs1488027843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201075952 (GRCh38)
2:201940675 (GRCh37)
Canonical SPDI:: NC_000002.12:201075951:A:G
Gene:: NDUFB3 (Varview)
Functional Consequence:: intron_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_000002.12:g.201075952A>G, NC_000002.11:g.201940675A>G, NG_032156.1:g.9214A>G

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