SNP Links for Gene (Select 693121) - SNP

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Select item 14885115161.

rs1488511516 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:101023325 (GRCh38)
14:101489662 (GRCh37)
Canonical SPDI:: NC_000014.9:101023320:TGTGTG:TGTG
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101023321TG[2], NC_000014.8:g.101489658TG[2], NG_045000.6:g.192053TG[2], XM_047432049.1:c.*2517TG[2]

Select item 14875645532.

rs1487564553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101021868 (GRCh38)
14:101488205 (GRCh37)
Canonical SPDI:: NC_000014.9:101021867:C:T
Gene:: MIR299 (Varview), MIR379 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000014.9:g.101021868C>T, NC_000014.8:g.101488205C>T, NG_045000.6:g.190600C>T, XM_047432049.1:c.*1064C>T

Select item 14875625773.

rs1487562577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:101023536 (GRCh38)
14:101489873 (GRCh37)
Canonical SPDI:: NC_000014.9:101023535:T:G
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.101023536T>G, NC_000014.8:g.101489873T>G, NG_045000.6:g.192268T>G, XM_047432049.1:c.*2732T>G

Select item 14875173224.

rs1487517322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:101023063 (GRCh38)
14:101489400 (GRCh37)
Canonical SPDI:: NC_000014.9:101023062:T:C
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.101023063T>C, NC_000014.8:g.101489400T>C, NG_045000.6:g.191795T>C, XM_047432049.1:c.*2259T>C

Select item 14871840155.

rs1487184015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101023888 (GRCh38)
14:101490225 (GRCh37)
Canonical SPDI:: NC_000014.9:101023887:G:A
Gene:: MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101023888G>A, NC_000014.8:g.101490225G>A, NG_045000.6:g.192620G>A, XM_047432049.1:c.*3084G>A

Select item 14869321446.

rs1486932144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101022019 (GRCh38)
14:101488356 (GRCh37)
Canonical SPDI:: NC_000014.9:101022018:G:A
Gene:: MIR299 (Varview), MIR379 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101022019G>A, NC_000014.8:g.101488356G>A, NG_045000.6:g.190751G>A, XM_047432049.1:c.*1215G>A

Select item 14868941067.

rs1486894106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:101021391 (GRCh38)
14:101487728 (GRCh37)
Canonical SPDI:: NC_000014.9:101021390:A:C
Gene:: MIR379 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101021391A>C, NC_000014.8:g.101487728A>C, NG_045000.6:g.190123A>C, XM_047432049.1:c.*587A>C

Select item 14868251388.

rs1486825138 [Homo sapiens]

Variant type:: DEL
Alleles:: TAG>- [Show Flanks]
Chromosome:: 14:101023717 (GRCh38)
14:101490054 (GRCh37)
Canonical SPDI:: NC_000014.9:101023716:TAG:
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.00006/16 (TOPMED)
HGVS:: NC_000014.9:g.101023717_101023719del, NC_000014.8:g.101490054_101490056del, NG_045000.6:g.192449_192451del, XM_047432049.1:c.*2913_*2915del

Select item 14835599139.

rs1483559913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101021365 (GRCh38)
14:101487702 (GRCh37)
Canonical SPDI:: NC_000014.9:101021364:C:T
Gene:: MIR379 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.101021365C>T, NC_000014.8:g.101487702C>T, NG_045000.6:g.190097C>T, XM_047432049.1:c.*561C>T

Select item 148350864010.

rs1483508640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:101022426 (GRCh38)
14:101488763 (GRCh37)
Canonical SPDI:: NC_000014.9:101022425:C:A
Gene:: MIR299 (Varview), MIR379 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.101022426C>A, NC_000014.8:g.101488763C>A, NG_045000.6:g.191158C>A, XM_047432049.1:c.*1622C>A

Select item 148071384311.

rs1480713843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101023711 (GRCh38)
14:101490048 (GRCh37)
Canonical SPDI:: NC_000014.9:101023710:G:A
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000198/3 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000014.9:g.101023711G>A, NC_000014.8:g.101490048G>A, NG_045000.6:g.192443G>A, XM_047432049.1:c.*2907G>A

Select item 148016436312.

rs1480164363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:101022807 (GRCh38)
14:101489144 (GRCh37)
Canonical SPDI:: NC_000014.9:101022806:G:A,NC_000014.9:101022806:G:T
Gene:: MIR299 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000306/5 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.101022807G>A, NC_000014.9:g.101022807G>T, NC_000014.8:g.101489144G>A, NC_000014.8:g.101489144G>T, NG_045000.6:g.191539G>A, NG_045000.6:g.191539G>T, XM_047432049.1:c.*2003G>A, XM_047432049.1:c.*2003G>T

Select item 147814119413.

rs1478141194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101022146 (GRCh38)
14:101488483 (GRCh37)
Canonical SPDI:: NC_000014.9:101022145:A:G
Gene:: MIR299 (Varview), MIR379 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101022146A>G, NC_000014.8:g.101488483A>G, NG_045000.6:g.190878A>G, XM_047432049.1:c.*1342A>G

Select item 147710171114.

rs1477101711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101023149 (GRCh38)
14:101489486 (GRCh37)
Canonical SPDI:: NC_000014.9:101023148:G:A
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000014.9:g.101023149G>A, NC_000014.8:g.101489486G>A, NG_045000.6:g.191881G>A, XM_047432049.1:c.*2345G>A

Select item 147083144515.

rs1470831445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101023752 (GRCh38)
14:101490089 (GRCh37)
Canonical SPDI:: NC_000014.9:101023751:A:G
Gene:: MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.101023752A>G, NC_000014.8:g.101490089A>G, NG_045000.6:g.192484A>G, XM_047432049.1:c.*2948A>G

Select item 146944234716.

rs1469442347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:101023169 (GRCh38)
14:101489506 (GRCh37)
Canonical SPDI:: NC_000014.9:101023168:T:G
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101023169T>G, NC_000014.8:g.101489506T>G, NG_045000.6:g.191901T>G, XM_047432049.1:c.*2365T>G

Select item 146715494717.

rs1467154947 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:101022775 (GRCh38)
14:101489113 (GRCh37)
Canonical SPDI:: NC_000014.9:101022775:GG:GGG
Gene:: MIR299 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.101022777dup, NC_000014.8:g.101489114dup, NG_045000.6:g.191509dup, XM_047432049.1:c.*1973dup

Select item 146601720118.

rs1466017201 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 14:101022048 (GRCh38)
14:101488385 (GRCh37)
Canonical SPDI:: NC_000014.9:101022047:CC:C
Gene:: MIR299 (Varview), MIR379 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101022049del, NC_000014.8:g.101488386del, NG_045000.6:g.190781del, XM_047432049.1:c.*1245del

Select item 146555896419.

rs1465558964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:101023751 (GRCh38)
14:101490088 (GRCh37)
Canonical SPDI:: NC_000014.9:101023750:G:A,NC_000014.9:101023750:G:T
Gene:: MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
HGVS:: NC_000014.9:g.101023751G>A, NC_000014.9:g.101023751G>T, NC_000014.8:g.101490088G>A, NC_000014.8:g.101490088G>T, NG_045000.6:g.192483G>A, NG_045000.6:g.192483G>T, XM_047432049.1:c.*2947G>A, XM_047432049.1:c.*2947G>T

Select item 146455859720.

rs1464558597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:101023192 (GRCh38)
14:101489529 (GRCh37)
Canonical SPDI:: NC_000014.9:101023191:G:A,NC_000014.9:101023191:G:C
Gene:: MIR299 (Varview), MIR380 (Varview), MIR411 (Varview), LOC124903407 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.101023192G>A, NC_000014.9:g.101023192G>C, NC_000014.8:g.101489529G>A, NC_000014.8:g.101489529G>C, NG_045000.6:g.191924G>A, NG_045000.6:g.191924G>C, XM_047432049.1:c.*2388G>A, XM_047432049.1:c.*2388G>C

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