SNP Links for Gene (Select 645369) - SNP

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Select item 14915179731.

rs1491517973 has merged into rs10694846 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 18:5896452 (GRCh38)
18:5896451 (GRCh37)
Canonical SPDI:: NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGA,NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000018.10:5896441:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGA=0./0 (ALFA)
GAGA=0.3884/1945 (1000Genomes)
HGVS:: NC_000018.10:g.5896442GA[5], NC_000018.10:g.5896442GA[6], NC_000018.10:g.5896442GA[8], NC_000018.10:g.5896442GA[9], NC_000018.10:g.5896442GA[10], NC_000018.10:g.5896442GA[11], NC_000018.10:g.5896442GA[12], NC_000018.10:g.5896442GA[13], NC_000018.9:g.5896441GA[5], NC_000018.9:g.5896441GA[6], NC_000018.9:g.5896441GA[8], NC_000018.9:g.5896441GA[9], NC_000018.9:g.5896441GA[10], NC_000018.9:g.5896441GA[11], NC_000018.9:g.5896441GA[12], NC_000018.9:g.5896441GA[13]

Select item 14910731182.

rs1491073118 has merged into rs567121689 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 18:5895609 (GRCh38)
18:5895608 (GRCh37)
Canonical SPDI:: NC_000018.10:5895601:CCCCCCCCC:CCCCCCC,NC_000018.10:5895601:CCCCCCCCC:CCCCCCCC,NC_000018.10:5895601:CCCCCCCCC:CCCCCCCCCC,NC_000018.10:5895601:CCCCCCCCC:CCCCCCCCCCC
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.13162/654 (1000Genomes)
-=0.33333/8 (GENOME_DK)
HGVS:: NC_000018.10:g.5895609_5895610del, NC_000018.10:g.5895610del, NC_000018.10:g.5895610dup, NC_000018.10:g.5895609_5895610dup, NC_000018.9:g.5895608_5895609del, NC_000018.9:g.5895609del, NC_000018.9:g.5895609dup, NC_000018.9:g.5895608_5895609dup

Select item 14909958723.

rs1490995872 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCGCCCG [Show Flanks]
Chromosome:: 18:5895643 (GRCh38)
18:5895643 (GRCh37)
Canonical SPDI:: NC_000018.10:5895643:CCGCCGCCCGCCGCCCG:CCGCCGCCCGCCGCCCGCCGCCCG
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCCCGCCGCCCGCCGCCCG=0./0 (ALFA)
CCGCCGC=0.000011/3 (TOPMED)
CCGCCGC=0.000024/3 (GnomAD)
HGVS:: NC_000018.10:g.5895647CCGCCCG[3], NC_000018.9:g.5895646CCGCCCG[3]

Select item 14908742604.

rs1490874260 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:5898053 (GRCh38)
18:5898052 (GRCh37)
Canonical SPDI:: NC_000018.10:5898052:CC:C
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5898054del, NC_000018.9:g.5898053del

Select item 14907694225.

rs1490769422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:5890884 (GRCh38)
18:5890883 (GRCh37)
Canonical SPDI:: NC_000018.10:5890883:C:T
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0002/1 (1000Genomes)
HGVS:: NC_000018.10:g.5890884C>T, NC_000018.9:g.5890883C>T, NM_001080209.3:c.1180G>A, NM_001080209.2:c.1180G>A, NM_001080209.1:c.1180G>A, NM_001395400.1:c.1180G>A, NP_001073678.1:p.Ala394Thr, NP_001382329.1:p.Ala394Thr

Select item 14906973266.

rs1490697326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:5891631 (GRCh38)
18:5891630 (GRCh37)
Canonical SPDI:: NC_000018.10:5891630:A:G
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.5891631A>G, NC_000018.9:g.5891630A>G, NM_001080209.3:c.433T>C, NM_001080209.2:c.433T>C, NM_001080209.1:c.433T>C, NM_001395400.1:c.433T>C, NP_001073678.1:p.Ser145Pro, NP_001382329.1:p.Ser145Pro

Select item 14906630397.

rs1490663039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:5895325 (GRCh38)
18:5895324 (GRCh37)
Canonical SPDI:: NC_000018.10:5895324:G:C
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.5895325G>C, NC_000018.9:g.5895324G>C, NM_001080209.3:c.-390C>G, NM_001080209.2:c.-390C>G, NM_001395400.1:c.-390C>G

Select item 14898507128.

rs1489850712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:5895140 (GRCh38)
18:5895139 (GRCh37)
Canonical SPDI:: NC_000018.10:5895139:C:T
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5895140C>T, NC_000018.9:g.5895139C>T, NM_001080209.3:c.-205G>A, NM_001080209.2:c.-205G>A, NM_001395400.1:c.-205G>A

Select item 14898002039.

rs1489800203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:5892710 (GRCh38)
18:5892709 (GRCh37)
Canonical SPDI:: NC_000018.10:5892709:T:G
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5892710T>G, NC_000018.9:g.5892709T>G

Select item 148966688110.

rs1489666881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:5896744 (GRCh38)
18:5896743 (GRCh37)
Canonical SPDI:: NC_000018.10:5896743:G:A,NC_000018.10:5896743:G:C
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.5896744G>A, NC_000018.10:g.5896744G>C, NC_000018.9:g.5896743G>A, NC_000018.9:g.5896743G>C

Select item 148952932611.

rs1489529326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:5893379 (GRCh38)
18:5893378 (GRCh37)
Canonical SPDI:: NC_000018.10:5893378:G:A,NC_000018.10:5893378:G:T
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000018.10:g.5893379G>A, NC_000018.10:g.5893379G>T, NC_000018.9:g.5893378G>A, NC_000018.9:g.5893378G>T

Select item 148942784212.

rs1489427842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:5892192 (GRCh38)
18:5892191 (GRCh37)
Canonical SPDI:: NC_000018.10:5892191:G:A,NC_000018.10:5892191:G:C
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.5892192G>A, NC_000018.10:g.5892192G>C, NC_000018.9:g.5892191G>A, NC_000018.9:g.5892191G>C

Select item 148920934213.

rs1489209342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:5895646 (GRCh38)
18:5895645 (GRCh37)
Canonical SPDI:: NC_000018.10:5895645:G:A,NC_000018.10:5895645:G:C,NC_000018.10:5895645:G:T
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000018.10:g.5895646G>A, NC_000018.10:g.5895646G>C, NC_000018.10:g.5895646G>T, NC_000018.9:g.5895645G>A, NC_000018.9:g.5895645G>C, NC_000018.9:g.5895645G>T

Select item 148906322414.

rs1489063224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:5900039 (GRCh38)
18:5900038 (GRCh37)
Canonical SPDI:: NC_000018.10:5900038:T:C
Gene:: MIR3976HG (Varview), LOC121725015 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.5900039T>C, NC_000018.9:g.5900038T>C

Select item 148813246115.

rs1488132461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:5894967 (GRCh38)
18:5894966 (GRCh37)
Canonical SPDI:: NC_000018.10:5894966:G:A,NC_000018.10:5894966:G:T
Gene:: MIR3976HG (Varview), TMEM200C (Varview), LOC121725015 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5894967G>A, NC_000018.10:g.5894967G>T, NC_000018.9:g.5894966G>A, NC_000018.9:g.5894966G>T

Select item 148808051516.

rs1488080515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:5899530 (GRCh38)
18:5899529 (GRCh37)
Canonical SPDI:: NC_000018.10:5899529:T:C
Gene:: MIR3976HG (Varview), LOC121725015 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.5899530T>C, NC_000018.9:g.5899529T>C

Select item 148800824117.

rs1488008241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:5898572 (GRCh38)
18:5898571 (GRCh37)
Canonical SPDI:: NC_000018.10:5898571:C:A,NC_000018.10:5898571:C:T
Gene:: MIR3976HG (Varview), LOC121725015 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.5898572C>A, NC_000018.10:g.5898572C>T, NC_000018.9:g.5898571C>A, NC_000018.9:g.5898571C>T

Select item 148757212118.

rs1487572121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:5892208 (GRCh38)
18:5892207 (GRCh37)
Canonical SPDI:: NC_000018.10:5892207:A:G
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.5892208A>G, NC_000018.9:g.5892207A>G

Select item 148746388919.

rs1487463889 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCGGCGGCGG>- [Show Flanks]
Chromosome:: 18:5891384 (GRCh38)
18:5891383 (GRCh37)
Canonical SPDI:: NC_000018.10:5891382:GGCCGCGGCGGCGG:G
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.5891384_5891396del, NC_000018.9:g.5891383_5891395del, NM_001080209.3:c.669_681del, NM_001080209.2:c.669_681del, NM_001080209.1:c.669_681del, NM_001395400.1:c.669_681del, NP_001073678.1:p.Ala224fs, NP_001382329.1:p.Ala224fs

Select item 148728771420.

rs1487287714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:5890668 (GRCh38)
18:5890667 (GRCh37)
Canonical SPDI:: NC_000018.10:5890667:C:T
Gene:: MIR3976HG (Varview), TMEM200C (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000018.10:g.5890668C>T, NC_000018.9:g.5890667C>T, NM_001080209.3:c.1396G>A, NM_001080209.2:c.1396G>A, NM_001080209.1:c.1396G>A, NM_001395400.1:c.1396G>A, NP_001073678.1:p.Ala466Thr, NP_001382329.1:p.Ala466Thr

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