SNP Links for Gene (Select 100313779) - SNP

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Select item 14869892941.

rs1486989294 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14862881772.

rs1486288177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43444725 (GRCh38)
17:41522093 (GRCh37)
Canonical SPDI:: NC_000017.11:43444724:T:C
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_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_000017.11:g.43444725T>C, NC_000017.10:g.41522093T>C, NR_146952.1:n.19T>C

Select item 14857871543.

rs1485787154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43444570 (GRCh38)
17:41521938 (GRCh37)
Canonical SPDI:: NC_000017.11:43444569:C:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.43444570C>T, NC_000017.10:g.41521938C>T

Select item 14856296114.

rs1485629611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43443617 (GRCh38)
17:41520985 (GRCh37)
Canonical SPDI:: NC_000017.11:43443616:C:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43443617C>T, NC_000017.10:g.41520985C>T

Select item 14848041795.

rs1484804179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43443346 (GRCh38)
17:41520714 (GRCh37)
Canonical SPDI:: NC_000017.11:43443345:C:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43443346C>T, NC_000017.10:g.41520714C>T

Select item 14847680366.

rs1484768036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43443157 (GRCh38)
17:41520525 (GRCh37)
Canonical SPDI:: NC_000017.11:43443156:T:C
Gene:: MIR2117 (Varview), MIR2117HG (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=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.43443157T>C, NC_000017.10:g.41520525T>C

Select item 14802882417.

rs1480288241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:43443183 (GRCh38)
17:41520551 (GRCh37)
Canonical SPDI:: NC_000017.11:43443182:G:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.002/9 (ALFA)
HGVS:: NC_000017.11:g.43443183G>T, NC_000017.10:g.41520551G>T

Select item 14800515278.

rs1480051527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43443398 (GRCh38)
17:41520766 (GRCh37)
Canonical SPDI:: NC_000017.11:43443397:T:C
Gene:: MIR2117 (Varview), MIR2117HG (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=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.43443398T>C, NC_000017.10:g.41520766T>C

Select item 14776051249.

rs1477605124 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:43445290 (GRCh38)
17:41522658 (GRCh37)
Canonical SPDI:: NC_000017.11:43445289:TT:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43445291del, NC_000017.10:g.41522659del

Select item 147595047510.

rs1475950475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:43444386 (GRCh38)
17:41521754 (GRCh37)
Canonical SPDI:: NC_000017.11:43444385:A:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.43444386A>T, NC_000017.10:g.41521754A>T

Select item 147438150611.

rs1474381506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:43444948 (GRCh38)
17:41522316 (GRCh37)
Canonical SPDI:: NC_000017.11:43444947:G:C
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.43444948G>C, NC_000017.10:g.41522316G>C

Select item 147433117912.

rs1474331179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:43444254 (GRCh38)
17:41521622 (GRCh37)
Canonical SPDI:: NC_000017.11:43444253:G:C
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.43444254G>C, NC_000017.10:g.41521622G>C

Select item 147366988913.

rs1473669889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43443233 (GRCh38)
17:41520601 (GRCh37)
Canonical SPDI:: NC_000017.11:43443232:T:C
Gene:: MIR2117 (Varview), MIR2117HG (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=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.43443233T>C, NC_000017.10:g.41520601T>C

Select item 147268355314.

rs1472683553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:43443384 (GRCh38)
17:41520752 (GRCh37)
Canonical SPDI:: NC_000017.11:43443383:T:G
Gene:: MIR2117 (Varview), MIR2117HG (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.43443384T>G, NC_000017.10:g.41520752T>G

Select item 147063296615.

rs1470632966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:43445240 (GRCh38)
17:41522608 (GRCh37)
Canonical SPDI:: NC_000017.11:43445239:G:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43445240G>T, NC_000017.10:g.41522608G>T

Select item 147014999016.

rs1470149990 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:43444569 (GRCh38)
17:41521937 (GRCh37)
Canonical SPDI:: NC_000017.11:43444568:CC:C
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.004282/72 (TOMMO)
HGVS:: NC_000017.11:g.43444570del, NC_000017.10:g.41521938del

Select item 146878655817.

rs1468786558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43445073 (GRCh38)
17:41522441 (GRCh37)
Canonical SPDI:: NC_000017.11:43445072:G:A
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43445073G>A, NC_000017.10:g.41522441G>A

Select item 146763563118.

rs1467635631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:43443104 (GRCh38)
17:41520472 (GRCh37)
Canonical SPDI:: NC_000017.11:43443103:G:C
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000462/7 (ALFA)
C=0.000057/8 (GnomAD)
C=0.001563/7 (Estonian)
HGVS:: NC_000017.11:g.43443104G>C, NC_000017.10:g.41520472G>C

Select item 146567120419.

rs1465671204 has merged into rs66512206 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 17:43443517 (GRCh38)
17:41520885 (GRCh37)
Canonical SPDI:: NC_000017.11:43443505:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:43443505:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:43443505:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:43443505:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.43443517_43443518del, NC_000017.11:g.43443518del, NC_000017.11:g.43443518dup, NC_000017.11:g.43443517_43443518dup, NC_000017.10:g.41520885_41520886del, NC_000017.10:g.41520886del, NC_000017.10:g.41520886dup, NC_000017.10:g.41520885_41520886dup

Select item 146547378220.

rs1465473782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:43445012 (GRCh38)
17:41522380 (GRCh37)
Canonical SPDI:: NC_000017.11:43445011:G:C,NC_000017.11:43445011:G:T
Gene:: MIR2117 (Varview), MIR2117HG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43445012G>C, NC_000017.11:g.43445012G>T, NC_000017.10:g.41522380G>C, NC_000017.10:g.41522380G>T

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