SNP Links for Nucleotide (Select 262205357) - SNP

Links from Nucleotide

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Select item 14819301361.

rs1481930136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:49020204 (GRCh38)
3:49057637 (GRCh37)
Canonical SPDI:: NC_000003.12:49020203:G:A,NC_000003.12:49020203:G:T
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000024/6 (GnomAD_exomes)
A=0.000053/14 (TOPMED)
A=0.000078/11 (GnomAD)
T=0.000119/2 (TOMMO)
HGVS:: NC_000003.12:g.49020204G>A, NC_000003.12:g.49020204G>T, NC_000003.11:g.49057637G>A, NC_000003.11:g.49057637G>T, NG_033126.1:g.5868C>T, NG_033126.1:g.5868C>A, NG_016282.1:g.4730G>A, NG_016282.1:g.4730G>T, NR_029948.1:n.31C>T, NR_029948.1:n.31C>A

Select item 14713790672.

rs1471379067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:49020158 (GRCh38)
3:49057591 (GRCh37)
Canonical SPDI:: NC_000003.12:49020157:T:A,NC_000003.12:49020157:T:G
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.49020158T>A, NC_000003.12:g.49020158T>G, NC_000003.11:g.49057591T>A, NC_000003.11:g.49057591T>G, NG_033126.1:g.5914A>T, NG_033126.1:g.5914A>C, NG_016282.1:g.4684T>A, NG_016282.1:g.4684T>G, NR_029948.1:n.77A>T, NR_029948.1:n.77A>C

Select item 13959681243.

rs1395968124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49020154 (GRCh38)
3:49057587 (GRCh37)
Canonical SPDI:: NC_000003.12:49020153:G:A
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.49020154G>A, NC_000003.11:g.49057587G>A, NG_033126.1:g.5918C>T, NG_016282.1:g.4680G>A, NR_029948.1:n.81C>T

Select item 13022102684.

rs1302210268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49020229 (GRCh38)
3:49057662 (GRCh37)
Canonical SPDI:: NC_000003.12:49020228:G:A
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.49020229G>A, NC_000003.11:g.49057662G>A, NG_033126.1:g.5843C>T, NG_016282.1:g.4755G>A, NR_029948.1:n.6C>T

Select item 12866963605.

rs1286696360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49020191 (GRCh38)
3:49057624 (GRCh37)
Canonical SPDI:: NC_000003.12:49020190:G:A
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.49020191G>A, NC_000003.11:g.49057624G>A, NG_033126.1:g.5881C>T, NG_016282.1:g.4717G>A, NR_029948.1:n.44C>T

Select item 12585148836.

rs1258514883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49020213 (GRCh38)
3:49057646 (GRCh37)
Canonical SPDI:: NC_000003.12:49020212:C:T
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49020213C>T, NC_000003.11:g.49057646C>T, NG_033126.1:g.5859G>A, NG_016282.1:g.4739C>T, NR_029948.1:n.22G>A

Select item 12318894857.

rs1231889485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:49020228 (GRCh38)
3:49057661 (GRCh37)
Canonical SPDI:: NC_000003.12:49020227:C:G,NC_000003.12:49020227:C:T
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49020228C>G, NC_000003.12:g.49020228C>T, NC_000003.11:g.49057661C>G, NC_000003.11:g.49057661C>T, NG_033126.1:g.5844G>C, NG_033126.1:g.5844G>A, NG_016282.1:g.4754C>G, NG_016282.1:g.4754C>T, NR_029948.1:n.7G>C, NR_029948.1:n.7G>A

Select item 11807021908.

rs1180702190 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAC>- [Show Flanks]
Chromosome:: 3:49020169 (GRCh38)
3:49057602 (GRCh37)
Canonical SPDI:: NC_000003.12:49020166:ACGAC:AC
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.49020169_49020171del, NC_000003.11:g.49057602_49057604del, NG_033126.1:g.5903_5905del, NG_016282.1:g.4695_4697del, NR_029948.1:n.66_68del

Select item 10238721879.

rs1023872187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:49020219 (GRCh38)
3:49057652 (GRCh37)
Canonical SPDI:: NC_000003.12:49020218:A:T
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49020219A>T, NC_000003.11:g.49057652A>T, NG_033126.1:g.5853T>A, NG_016282.1:g.4745A>T, NR_029948.1:n.16T>A

Select item 99291574310.

rs992915743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:49020151 (GRCh38)
3:49057584 (GRCh37)
Canonical SPDI:: NC_000003.12:49020150:A:C,NC_000003.12:49020150:A:G
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49020151A>C, NC_000003.12:g.49020151A>G, NC_000003.11:g.49057584A>C, NC_000003.11:g.49057584A>G, NG_033126.1:g.5921T>G, NG_033126.1:g.5921T>C, NG_016282.1:g.4677A>C, NG_016282.1:g.4677A>G, NR_029948.1:n.84T>G, NR_029948.1:n.84T>C

Select item 99151944011.

rs991519440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49020216 (GRCh38)
3:49057649 (GRCh37)
Canonical SPDI:: NC_000003.12:49020215:G:A
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49020216G>A, NC_000003.11:g.49057649G>A, NG_033126.1:g.5856C>T, NG_016282.1:g.4742G>A, NR_029948.1:n.19C>T

Select item 96089769112.

rs960897691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49020203 (GRCh38)
3:49057636 (GRCh37)
Canonical SPDI:: NC_000003.12:49020202:C:T
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.49020203C>T, NC_000003.11:g.49057636C>T, NG_033126.1:g.5869G>A, NG_016282.1:g.4729C>T, NR_029948.1:n.32G>A

Select item 78126222613.

rs781262226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49020192 (GRCh38)
3:49057625 (GRCh37)
Canonical SPDI:: NC_000003.12:49020191:T:C
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000033/4 (ExAC)
C=0.000044/11 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49020192T>C, NC_000003.11:g.49057625T>C, NG_033126.1:g.5880A>G, NG_016282.1:g.4718T>C, NR_029948.1:n.43A>G

Select item 77809375614.

rs778093756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:49020208 (GRCh38)
3:49057641 (GRCh37)
Canonical SPDI:: NC_000003.12:49020207:G:A,NC_000003.12:49020207:G:C
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000059/7 (ExAC)
HGVS:: NC_000003.12:g.49020208G>A, NC_000003.12:g.49020208G>C, NC_000003.11:g.49057641G>A, NC_000003.11:g.49057641G>C, NG_033126.1:g.5864C>T, NG_033126.1:g.5864C>G, NG_016282.1:g.4734G>A, NG_016282.1:g.4734G>C, NR_029948.1:n.27C>T, NR_029948.1:n.27C>G

Select item 77448317515.

rs774483175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49020161 (GRCh38)
3:49057594 (GRCh37)
Canonical SPDI:: NC_000003.12:49020160:G:A
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (ExAC)
HGVS:: NC_000003.12:g.49020161G>A, NC_000003.11:g.49057594G>A, NG_033126.1:g.5911C>T, NG_016282.1:g.4687G>A, NR_029948.1:n.74C>T

Select item 77177961316.

rs771779613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:49020163 (GRCh38)
3:49057596 (GRCh37)
Canonical SPDI:: NC_000003.12:49020162:G:A,NC_000003.12:49020162:G:C
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000025/3 (ExAC)
HGVS:: NC_000003.12:g.49020163G>A, NC_000003.12:g.49020163G>C, NC_000003.11:g.49057596G>A, NC_000003.11:g.49057596G>C, NG_033126.1:g.5909C>T, NG_033126.1:g.5909C>G, NG_016282.1:g.4689G>A, NG_016282.1:g.4689G>C, NR_029948.1:n.72C>T, NR_029948.1:n.72C>G

Select item 77091090017.

rs770910900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49020223 (GRCh38)
3:49057656 (GRCh37)
Canonical SPDI:: NC_000003.12:49020222:C:G
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000009/1 (ExAC)
HGVS:: NC_000003.12:g.49020223C>G, NC_000003.11:g.49057656C>G, NG_033126.1:g.5849G>C, NG_016282.1:g.4749C>G, NR_029948.1:n.12G>C

Select item 77059744818.

rs770597448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49020155 (GRCh38)
3:49057588 (GRCh37)
Canonical SPDI:: NC_000003.12:49020154:C:T
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000209/25 (ExAC)
T=0.000224/56 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49020155C>T, NC_000003.11:g.49057588C>T, NG_033126.1:g.5917G>A, NG_016282.1:g.4681C>T, NR_029948.1:n.80G>A

Select item 76341671619.

rs763416716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49020185 (GRCh38)
3:49057618 (GRCh37)
Canonical SPDI:: NC_000003.12:49020184:T:C
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000017/2 (ExAC)
HGVS:: NC_000003.12:g.49020185T>C, NC_000003.11:g.49057618T>C, NG_033126.1:g.5887A>G, NG_016282.1:g.4711T>C, NR_029948.1:n.50A>G

Select item 75953599520.

rs759535995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49020162 (GRCh38)
3:49057595 (GRCh37)
Canonical SPDI:: NC_000003.12:49020161:C:T
Gene:: NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/1 (ALFA)
T=0.000008/1 (ExAC)
HGVS:: NC_000003.12:g.49020162C>T, NC_000003.11:g.49057595C>T, NG_033126.1:g.5910G>A, NG_016282.1:g.4688C>T, NR_029948.1:n.73G>A

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