SNP Links for Gene (Select 29078) - SNP

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Items: 1 to 20 of 2499

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Select item 14915775501.

rs1491577550 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:96891398 (GRCh38)
6:97339274 (GRCh37)
Canonical SPDI:: NC_000006.12:96891397:TC:
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.96891398_96891399del, NC_000006.11:g.97339274_97339275del, NG_013379.1:g.11493_11494del

Select item 14912776572.

rs1491277657 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:96891409 (GRCh38)
6:97339285 (GRCh37)
Canonical SPDI:: NC_000006.12:96891408:AG:
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.96891409_96891410del, NC_000006.11:g.97339285_97339286del, NG_013379.1:g.11482_11483del

Select item 14912052923.

rs1491205292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 6:96894956 (GRCh38)
6:97342833 (GRCh37)
Canonical SPDI:: NC_000006.12:96894956:ATTAT:ATTATTAT
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATTAT=0./0 (ALFA)
ATT=0.000004/1 (TOPMED)
ATT=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.96894959_96894961dup, NC_000006.11:g.97342835_97342837dup, NG_013379.1:g.7933_7935dup

Select item 14911961974.

rs1491196197 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:96891398 (GRCh38)
6:97339275 (GRCh37)
Canonical SPDI:: NC_000006.12:96891398::A
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.96891398_96891399insA, NC_000006.11:g.97339274_97339275insA, NG_013379.1:g.11493_11494insT

Select item 14907776465.

rs1490777646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96894374 (GRCh38)
6:97342250 (GRCh37)
Canonical SPDI:: NC_000006.12:96894373:G:A
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_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_000006.12:g.96894374G>A, NC_000006.11:g.97342250G>A, NG_013379.1:g.8518C>T

Select item 14901771816.

rs1490177181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:96899224 (GRCh38)
6:97347100 (GRCh37)
Canonical SPDI:: NC_000006.12:96899223:A:G
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.96899224A>G, NC_000006.11:g.97347100A>G, NG_013379.1:g.3668T>C, NM_001323258.2:c.-1075A>G, NM_001323258.1:c.-1075A>G

Select item 14899589367.

rs1489958936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:96893872 (GRCh38)
6:97341748 (GRCh37)
Canonical SPDI:: NC_000006.12:96893871:A:G
Gene:: NDUFAF4 (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_000006.12:g.96893872A>G, NC_000006.11:g.97341748A>G, NG_013379.1:g.9020T>C

Select item 14887072358.

rs1488707235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96898776 (GRCh38)
6:97346652 (GRCh37)
Canonical SPDI:: NC_000006.12:96898775:G:A
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_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_000006.12:g.96898776G>A, NC_000006.11:g.97346652G>A, NG_013379.1:g.4116C>T, NM_001323258.2:c.-1523G>A, NM_001323258.1:c.-1523G>A

Select item 14886336319.

rs1488633631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96894834 (GRCh38)
6:97342710 (GRCh37)
Canonical SPDI:: NC_000006.12:96894833:T:C
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.96894834T>C, NC_000006.11:g.97342710T>C, NG_013379.1:g.8058A>G

Select item 148860247910.

rs1488602479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96897464 (GRCh38)
6:97345340 (GRCh37)
Canonical SPDI:: NC_000006.12:96897463:G:A
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.96897464G>A, NC_000006.11:g.97345340G>A, NG_013379.1:g.5428C>T

Select item 148849148311.

rs1488491483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96898006 (GRCh38)
6:97345882 (GRCh37)
Canonical SPDI:: NC_000006.12:96898005:G:A
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.96898006G>A, NC_000006.11:g.97345882G>A, NG_013379.1:g.4886C>T

Select item 148806077412.

rs1488060774 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:96897958 (GRCh38)
6:97345835 (GRCh37)
Canonical SPDI:: NC_000006.12:96897958:A:AA
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.96897959dup, NC_000006.11:g.97345835dup, NG_013379.1:g.4933dup

Select item 148791951713.

rs1487919517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96899299 (GRCh38)
6:97347175 (GRCh37)
Canonical SPDI:: NC_000006.12:96899298:G:A
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.96899299G>A, NC_000006.11:g.97347175G>A, NG_013379.1:g.3593C>T, NM_001323258.2:c.-1000G>A, NM_001323258.1:c.-1000G>A

Select item 148765888714.

rs1487658887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:96890106 (GRCh38)
6:97337982 (GRCh37)
Canonical SPDI:: NC_000006.12:96890105:A:T
Gene:: NDUFAF4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.96890106A>T, NC_000006.11:g.97337982A>T, NG_013379.1:g.12786T>A, NM_014165.4:c.*998T>A, NM_014165.3:c.*998T>A

Select item 148732679115.

rs1487326791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96895062 (GRCh38)
6:97342938 (GRCh37)
Canonical SPDI:: NC_000006.12:96895061:T:C
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_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_000006.12:g.96895062T>C, NC_000006.11:g.97342938T>C, NG_013379.1:g.7830A>G

Select item 148724526116.

rs1487245261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96896231 (GRCh38)
6:97344107 (GRCh37)
Canonical SPDI:: NC_000006.12:96896230:G:A
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.96896231G>A, NC_000006.11:g.97344107G>A, NG_013379.1:g.6661C>T

Select item 148704388217.

rs1487043882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96892822 (GRCh38)
6:97340698 (GRCh37)
Canonical SPDI:: NC_000006.12:96892821:T:C
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.96892822T>C, NC_000006.11:g.97340698T>C, NG_013379.1:g.10070A>G

Select item 148700493618.

rs1487004936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:96893441 (GRCh38)
6:97341317 (GRCh37)
Canonical SPDI:: NC_000006.12:96893440:C:T
Gene:: NDUFAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.96893441C>T, NC_000006.11:g.97341317C>T, NG_013379.1:g.9451G>A

Select item 148685180819.

rs1486851808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:96897019 (GRCh38)
6:97344895 (GRCh37)
Canonical SPDI:: NC_000006.12:96897018:C:T
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.96897019C>T, NC_000006.11:g.97344895C>T, NG_013379.1:g.5873G>A

Select item 148678619320.

rs1486786193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96897285 (GRCh38)
6:97345161 (GRCh37)
Canonical SPDI:: NC_000006.12:96897284:T:C
Gene:: NDUFAF4 (Varview), KLHL32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.96897285T>C, NC_000006.11:g.97345161T>C, NG_013379.1:g.5607A>G

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