SNP Links for Nucleotide (Select 262206145) - SNP

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Links from Nucleotide

Items: 1 to 20 of 35

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Select item 14831282571.

rs1483128257 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:17813845 (GRCh38)
17:17717159 (GRCh37)
Canonical SPDI:: NC_000017.11:17813844:GGGG:GGG
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17813848del, NC_000017.10:g.17717162del, NG_029029.1:g.28167del, NR_030361.1:n.87del

Select item 14471236392.

rs1447123639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:17813880 (GRCh38)
17:17717194 (GRCh37)
Canonical SPDI:: NC_000017.11:17813879:A:C,NC_000017.11:17813879:A:G
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.17813880A>C, NC_000017.11:g.17813880A>G, NC_000017.10:g.17717194A>C, NC_000017.10:g.17717194A>G, NG_029029.1:g.28132T>G, NG_029029.1:g.28132T>C, NR_030361.1:n.52T>G, NR_030361.1:n.52T>C

Select item 14403425793.

rs1440342579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17813846 (GRCh38)
17:17717160 (GRCh37)
Canonical SPDI:: NC_000017.11:17813845:G:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813846G>A, NC_000017.10:g.17717160G>A, NG_029029.1:g.28166C>T, NR_030361.1:n.86C>T

Select item 14233215514.

rs1423321551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17813912 (GRCh38)
17:17717226 (GRCh37)
Canonical SPDI:: NC_000017.11:17813911:T:C
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.17813912T>C, NC_000017.10:g.17717226T>C, NG_029029.1:g.28100A>G, NR_030361.1:n.20A>G

Select item 13991183905.

rs1399118390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17813874 (GRCh38)
17:17717188 (GRCh37)
Canonical SPDI:: NC_000017.11:17813873:C:T
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813874C>T, NC_000017.10:g.17717188C>T, NG_029029.1:g.28138G>A, NR_030361.1:n.58G>A

Select item 13933892846.

rs1393389284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17813851 (GRCh38)
17:17717165 (GRCh37)
Canonical SPDI:: NC_000017.11:17813850:G:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000016/2 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
A=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.17813851G>A, NC_000017.10:g.17717165G>A, NG_029029.1:g.28161C>T, NR_030361.1:n.81C>T

Select item 13682272917.

rs1368227291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17813884 (GRCh38)
17:17717198 (GRCh37)
Canonical SPDI:: NC_000017.11:17813883:G:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.17813884G>A, NC_000017.10:g.17717198G>A, NG_029029.1:g.28128C>T, NR_030361.1:n.48C>T

Select item 13624053218.

rs1362405321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17813923 (GRCh38)
17:17717237 (GRCh37)
Canonical SPDI:: NC_000017.11:17813922:G:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.17813923G>A, NC_000017.10:g.17717237G>A, NG_029029.1:g.28089C>T, NR_030361.1:n.9C>T

Select item 13594668779.

rs1359466877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17813864 (GRCh38)
17:17717178 (GRCh37)
Canonical SPDI:: NC_000017.11:17813863:A:G
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813864A>G, NC_000017.10:g.17717178A>G, NG_029029.1:g.28148T>C, NR_030361.1:n.68T>C

Select item 133376616110.

rs1333766161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17813870 (GRCh38)
17:17717184 (GRCh37)
Canonical SPDI:: NC_000017.11:17813869:G:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17813870G>A, NC_000017.10:g.17717184G>A, NG_029029.1:g.28142C>T, NR_030361.1:n.62C>T

Select item 131081021911.

rs1310810219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17813883 (GRCh38)
17:17717197 (GRCh37)
Canonical SPDI:: NC_000017.11:17813882:C:T
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000009/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.17813883C>T, NC_000017.10:g.17717197C>T, NG_029029.1:g.28129G>A, NR_030361.1:n.49G>A

Select item 130258864512.

rs1302588645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17813903 (GRCh38)
17:17717217 (GRCh37)
Canonical SPDI:: NC_000017.11:17813902:C:T
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17813903C>T, NC_000017.10:g.17717217C>T, NG_029029.1:g.28109G>A, NR_030361.1:n.29G>A

Select item 129604834213.

rs1296048342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17813872 (GRCh38)
17:17717186 (GRCh37)
Canonical SPDI:: NC_000017.11:17813871:G:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813872G>A, NC_000017.10:g.17717186G>A, NG_029029.1:g.28140C>T, NR_030361.1:n.60C>T

Select item 127283289014.

rs1272832890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17813873 (GRCh38)
17:17717187 (GRCh37)
Canonical SPDI:: NC_000017.11:17813872:G:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_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_000017.11:g.17813873G>A, NC_000017.10:g.17717187G>A, NG_029029.1:g.28139C>T, NR_030361.1:n.59C>T

Select item 123783683515.

rs1237836835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17813843 (GRCh38)
17:17717157 (GRCh37)
Canonical SPDI:: NC_000017.11:17813842:C:T
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813843C>T, NC_000017.10:g.17717157C>T, NG_029029.1:g.28169G>A, NR_030361.1:n.89G>A

Select item 121910112916.

rs1219101129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:17813892 (GRCh38)
17:17717206 (GRCh37)
Canonical SPDI:: NC_000017.11:17813891:C:A,NC_000017.11:17813891:C:G
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813892C>A, NC_000017.11:g.17813892C>G, NC_000017.10:g.17717206C>A, NC_000017.10:g.17717206C>G, NG_029029.1:g.28120G>T, NG_029029.1:g.28120G>C, NR_030361.1:n.40G>T, NR_030361.1:n.40G>C

Select item 121205517317.

rs1212055173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:17813859 (GRCh38)
17:17717173 (GRCh37)
Canonical SPDI:: NC_000017.11:17813858:G:C
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17813859G>C, NC_000017.10:g.17717173G>C, NG_029029.1:g.28153C>G, NR_030361.1:n.73C>G

Select item 120289336318.

rs1202893363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17813909 (GRCh38)
17:17717223 (GRCh37)
Canonical SPDI:: NC_000017.11:17813908:C:T
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813909C>T, NC_000017.10:g.17717223C>T, NG_029029.1:g.28103G>A, NR_030361.1:n.23G>A

Select item 117563336519.

rs1175633365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:17813842 (GRCh38)
17:17717156 (GRCh37)
Canonical SPDI:: NC_000017.11:17813841:C:A
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17813842C>A, NC_000017.10:g.17717156C>A, NG_029029.1:g.28170G>T, NR_030361.1:n.90G>T

Select item 117534491320.

rs1175344913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17813860 (GRCh38)
17:17717174 (GRCh37)
Canonical SPDI:: NC_000017.11:17813859:C:T
Gene:: SREBF1 (Varview), MIR33B (Varview), MIR6777 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17813860C>T, NC_000017.10:g.17717174C>T, NG_029029.1:g.28152G>A, NR_030361.1:n.72G>A