SNP Links for Gene (Select 406936) - SNP

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Links from Gene

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Select item 14880141761.

rs1488014176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28863186 (GRCh38)
17:27190204 (GRCh37)
Canonical SPDI:: NC_000017.11:28863185:C:G
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28863186C>G, NC_000017.10:g.27190204C>G

Select item 14848379802.

rs1484837980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28863325 (GRCh38)
17:27190343 (GRCh37)
Canonical SPDI:: NC_000017.11:28863324:T:C
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.28863325T>C, NC_000017.10:g.27190343T>C

Select item 14846980693.

rs1484698069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28861728 (GRCh38)
17:27188746 (GRCh37)
Canonical SPDI:: NC_000017.11:28861727:C:T
Gene:: MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28861728C>T, NC_000017.10:g.27188746C>T, NR_039885.1:n.3G>A

Select item 14839906384.

rs1483990638 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:28861357 (GRCh38)
17:27188375 (GRCh37)
Canonical SPDI:: NC_000017.11:28861356:CC:C
Gene:: ERAL1 (Varview), MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28861358del, NC_000017.10:g.27188376del, XR_007065690.1:n.361del

Select item 14831956235.

rs1483195623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28861912 (GRCh38)
17:27188930 (GRCh37)
Canonical SPDI:: NC_000017.11:28861911:G:A
Gene:: MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28861912G>A, NC_000017.10:g.27188930G>A

Select item 14820342106.

rs1482034210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28862700 (GRCh38)
17:27189718 (GRCh37)
Canonical SPDI:: NC_000017.11:28862699:C:T
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.28862700C>T, NC_000017.10:g.27189718C>T

Select item 14810929407.

rs1481092940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28861453 (GRCh38)
17:27188471 (GRCh37)
Canonical SPDI:: NC_000017.11:28861452:C:G
Gene:: ERAL1 (Varview), MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.28861453C>G, NC_000017.10:g.27188471C>G, XR_007065690.1:n.265G>C

Select item 14800367658.

rs1480036765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:28861441 (GRCh38)
17:27188459 (GRCh37)
Canonical SPDI:: NC_000017.11:28861440:T:A,NC_000017.11:28861440:T:C
Gene:: ERAL1 (Varview), MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28861441T>A, NC_000017.11:g.28861441T>C, NC_000017.10:g.27188459T>A, NC_000017.10:g.27188459T>C, XR_007065690.1:n.277A>T, XR_007065690.1:n.277A>G

Select item 14786699379.

rs1478669937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28863171 (GRCh38)
17:27190189 (GRCh37)
Canonical SPDI:: NC_000017.11:28863170:G:A,NC_000017.11:28863170:G:C
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.28863171G>A, NC_000017.11:g.28863171G>C, NC_000017.10:g.27190189G>A, NC_000017.10:g.27190189G>C

Select item 147781612910.

rs1477816129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28861593 (GRCh38)
17:27188611 (GRCh37)
Canonical SPDI:: NC_000017.11:28861592:A:G
Gene:: MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28861593A>G, NC_000017.10:g.27188611A>G, XR_007065690.1:n.125T>C, NR_029685.1:n.26T>C

Select item 147777848611.

rs1477778486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:28863309 (GRCh38)
17:27190327 (GRCh37)
Canonical SPDI:: NC_000017.11:28863308:G:C,NC_000017.11:28863308:G:T
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28863309G>C, NC_000017.11:g.28863309G>T, NC_000017.10:g.27190327G>C, NC_000017.10:g.27190327G>T

Select item 147733339912.

rs1477333399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 17:28863191 (GRCh38)
17:27190209 (GRCh37)
Canonical SPDI:: NC_000017.11:28863190:A:C,NC_000017.11:28863190:A:G,NC_000017.11:28863190:A:T
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.28863191A>C, NC_000017.11:g.28863191A>G, NC_000017.11:g.28863191A>T, NC_000017.10:g.27190209A>C, NC_000017.10:g.27190209A>G, NC_000017.10:g.27190209A>T

Select item 147540350013.

rs1475403500 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:28862322 (GRCh38)
17:27189340 (GRCh37)
Canonical SPDI:: NC_000017.11:28862321:G:
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28862322del, NC_000017.10:g.27189340del

Select item 147447463714.

rs1474474637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28862404 (GRCh38)
17:27189422 (GRCh37)
Canonical SPDI:: NC_000017.11:28862403:G:A
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.28862404G>A, NC_000017.10:g.27189422G>A

Select item 147428321115.

rs1474283211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28861672 (GRCh38)
17:27188690 (GRCh37)
Canonical SPDI:: NC_000017.11:28861671:A:G
Gene:: MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28861672A>G, NC_000017.10:g.27188690A>G, NR_039885.1:n.59T>C

Select item 147388037416.

rs1473880374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28861740 (GRCh38)
17:27188758 (GRCh37)
Canonical SPDI:: NC_000017.11:28861739:C:T
Gene:: MIR144 (Varview), MIR451A (Varview), MIR451B (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000043/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28861740C>T, NC_000017.10:g.27188758C>T

Select item 147154005817.

rs1471540058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28862484 (GRCh38)
17:27189502 (GRCh37)
Canonical SPDI:: NC_000017.11:28862483:G:C
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.28862484G>C, NC_000017.10:g.27189502G>C

Select item 147123579118.

rs1471235791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28862745 (GRCh38)
17:27189763 (GRCh37)
Canonical SPDI:: NC_000017.11:28862744:G:C
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28862745G>C, NC_000017.10:g.27189763G>C

Select item 147063512019.

rs1470635120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28862548 (GRCh38)
17:27189566 (GRCh37)
Canonical SPDI:: NC_000017.11:28862547:C:T
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28862548C>T, NC_000017.10:g.27189566C>T

Select item 146990177820.

rs1469901778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28863221 (GRCh38)
17:27190239 (GRCh37)
Canonical SPDI:: NC_000017.11:28863220:G:A
Gene:: MIR144 (Varview), MIR451A (Varview), MIR4732 (Varview), LOC124903966 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28863221G>A, NC_000017.10:g.27190239G>A

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