SNP Links for Gene (Select 693157) - SNP

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Select item 14912863331.

rs1491286333 has merged into rs778069850 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:11367079 (GRCh38)
4:11368703 (GRCh37)
Canonical SPDI:: NC_000004.12:11367077:GAG:G
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000044/6 (GnomAD)
-=0.000284/8 (TOMMO)
HGVS:: NC_000004.12:g.11367079_11367080del, NC_000004.11:g.11368703_11368704del

Select item 14910657482.

rs1491065748 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,AGGGAAGGGAAGGG,AGGGAAGGGAAGGGAAGGGAAGGGAAGGC [Show Flanks]
Chromosome:: 4:11367079 (GRCh38)
4:11368704 (GRCh37)
Canonical SPDI:: NC_000004.12:11367079::AG,NC_000004.12:11367079::AGGGAAGGGAAGGG,NC_000004.12:11367079::AGGGAAGGGAAGGGAAGGGAAGGGAAGGC
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: AGGGAAGGGAAGGG=0.00004/1 (TOMMO)
AGGGAAGGGAAGGGAAGGGAAGGGAAGGC=0.00008/2 (GnomAD)
AG=0.00062/4 (1000Genomes)
HGVS:: NC_000004.12:g.11367079_11367080insAG, NC_000004.12:g.11367079_11367080insAGGGAAGGGAAGGG, NC_000004.12:g.11367079_11367080insAGGGAAGGGAAGGGAAGGGAAGGGAAGGC, NC_000004.11:g.11368703_11368704insAG, NC_000004.11:g.11368703_11368704insAGGGAAGGGAAGGG, NC_000004.11:g.11368703_11368704insAGGGAAGGGAAGGGAAGGGAAGGGAAGGC

Select item 14910103073.

rs1491010307 has merged into rs369377103 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 4:11367078 (GRCh38)
4:11368703 (GRCh37)
Canonical SPDI:: NC_000004.12:11367078::GA
Gene:: MIR572 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GA=0.000029/4 (GnomAD)
GA=0.000711/12 (TOMMO)
HGVS:: NC_000004.12:g.11367078_11367079insGA, NC_000004.11:g.11368702_11368703insGA

Select item 14908795894.

rs1490879589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:11367322 (GRCh38)
4:11368946 (GRCh37)
Canonical SPDI:: NC_000004.12:11367321:T:C
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.11367322T>C, NC_000004.11:g.11368946T>C

Select item 14888663595.

rs1488866359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:11368918 (GRCh38)
4:11370542 (GRCh37)
Canonical SPDI:: NC_000004.12:11368917:G:A,NC_000004.12:11368917:G:C,NC_000004.12:11368917:G:T
Gene:: MIR572 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.11368918G>A, NC_000004.12:g.11368918G>C, NC_000004.12:g.11368918G>T, NC_000004.11:g.11370542G>A, NC_000004.11:g.11370542G>C, NC_000004.11:g.11370542G>T, NG_023467.3:g.198G>A, NG_023467.3:g.198G>C, NG_023467.3:g.198G>T, NR_030298.1:n.92G>A, NR_030298.1:n.92G>C, NR_030298.1:n.92G>T

Select item 14885094976.

rs1488509497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:11368446 (GRCh38)
4:11370070 (GRCh37)
Canonical SPDI:: NC_000004.12:11368445:T:C
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.11368446T>C, NC_000004.11:g.11370070T>C

Select item 14881737637.

rs1488173763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:11369080 (GRCh38)
4:11370704 (GRCh37)
Canonical SPDI:: NC_000004.12:11369079:G:C,NC_000004.12:11369079:G:T
Gene:: MIR572 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.11369080G>C, NC_000004.12:g.11369080G>T, NC_000004.11:g.11370704G>C, NC_000004.11:g.11370704G>T, NG_023467.3:g.360G>C, NG_023467.3:g.360G>T

Select item 14877212718.

rs1487721271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:11368249 (GRCh38)
4:11369873 (GRCh37)
Canonical SPDI:: NC_000004.12:11368248:A:C
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.11368249A>C, NC_000004.11:g.11369873A>C

Select item 14869319929.

rs1486931992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:11368964 (GRCh38)
4:11370588 (GRCh37)
Canonical SPDI:: NC_000004.12:11368963:C:A,NC_000004.12:11368963:C:T
Gene:: MIR572 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.0003/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.11368964C>A, NC_000004.12:g.11368964C>T, NC_000004.11:g.11370588C>A, NC_000004.11:g.11370588C>T, NG_023467.3:g.244C>A, NG_023467.3:g.244C>T

Select item 148632869210.

rs1486328692 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAAGGGAAGGGAAGGGAAG [Show Flanks]
Chromosome:: 4:11367053 (GRCh38)
4:11368678 (GRCh37)
Canonical SPDI:: NC_000004.12:11367053:GAAGGGAAGGGAAGGGAAG:GAAGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAAG
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GAAGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAAG=0.000122/2 (ALFA)
GAAGGGAAGGGAAGGGAAGA=0.000123/17 (GnomAD)
HGVS:: NC_000004.12:g.11367054_11367072GAAGG[3]GAAGAGAAGGGAAGGGAAGGGAAG[1], NC_000004.11:g.11368678_11368696GAAGG[3]GAAGAGAAGGGAAGGGAAGGGAAG[1]

Select item 148532803311.

rs1485328033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:11367400 (GRCh38)
4:11369024 (GRCh37)
Canonical SPDI:: NC_000004.12:11367399:C:G,NC_000004.12:11367399:C:T
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.11367400C>G, NC_000004.12:g.11367400C>T, NC_000004.11:g.11369024C>G, NC_000004.11:g.11369024C>T

Select item 148489680812.

rs1484896808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:11368622 (GRCh38)
4:11370246 (GRCh37)
Canonical SPDI:: NC_000004.12:11368621:G:A,NC_000004.12:11368621:G:T
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.11368622G>A, NC_000004.12:g.11368622G>T, NC_000004.11:g.11370246G>A, NC_000004.11:g.11370246G>T

Select item 148382082913.

rs1483820829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:11368017 (GRCh38)
4:11369641 (GRCh37)
Canonical SPDI:: NC_000004.12:11368016:A:T
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.11368017A>T, NC_000004.11:g.11369641A>T

Select item 148269566314.

rs1482695663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:11368898 (GRCh38)
4:11370522 (GRCh37)
Canonical SPDI:: NC_000004.12:11368897:G:A
Gene:: MIR572 (Varview)
Functional Consequence:: 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_000004.12:g.11368898G>A, NC_000004.11:g.11370522G>A, NG_023467.3:g.178G>A, NR_030298.1:n.72G>A

Select item 148197028315.

rs1481970283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:11367420 (GRCh38)
4:11369044 (GRCh37)
Canonical SPDI:: NC_000004.12:11367419:G:A
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.11367420G>A, NC_000004.11:g.11369044G>A

Select item 148059632016.

rs1480596320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:11368854 (GRCh38)
4:11370478 (GRCh37)
Canonical SPDI:: NC_000004.12:11368853:G:C
Gene:: MIR572 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.11368854G>C, NC_000004.11:g.11370478G>C, NG_023467.3:g.134G>C, NR_030298.1:n.28G>C

Select item 147948121617.

rs1479481216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:11368373 (GRCh38)
4:11369997 (GRCh37)
Canonical SPDI:: NC_000004.12:11368372:G:A
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_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=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.11368373G>A, NC_000004.11:g.11369997G>A

Select item 147792043318.

rs1477920433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:11367088 (GRCh38)
4:11368712 (GRCh37)
Canonical SPDI:: NC_000004.12:11367087:G:A
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_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)
HGVS:: NC_000004.12:g.11367088G>A, NC_000004.11:g.11368712G>A

Select item 147769486119.

rs1477694861 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:11369136 (GRCh38)
4:11370760 (GRCh37)
Canonical SPDI:: NC_000004.12:11369135:GG:G
Gene:: MIR572 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.11369137del, NC_000004.11:g.11370761del, NG_023467.3:g.417del

Select item 147720454620.

rs1477204546 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:11368083 (GRCh38)
4:11369708 (GRCh37)
Canonical SPDI:: NC_000004.12:11368083:A:AA
Gene:: MIR572 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.11368084dup, NC_000004.11:g.11369708dup

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