SNP Links for Gene (Select 406996) - SNP

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Select item 14901858171.

rs1490185817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:172138880 (GRCh38)
1:172108020 (GRCh37)
Canonical SPDI:: NC_000001.11:172138879:A:G
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.172138880A>G, NC_000001.10:g.172108020A>G, NR_038397.2:n.5956T>C, NR_103486.1:n.2050T>C, NR_029627.1:n.28T>C, NR_036066.1:n.73A>G

Select item 14888454052.

rs1488845405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:172140669 (GRCh38)
1:172109809 (GRCh37)
Canonical SPDI:: NC_000001.11:172140668:G:A,NC_000001.11:172140668:G:C
Gene:: DNM3 (Varview), MIR214 (Varview), DNM3OS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.172140669G>A, NC_000001.11:g.172140669G>C, NC_000001.10:g.172109809G>A, NC_000001.10:g.172109809G>C, NR_038397.2:n.4167C>T, NR_038397.2:n.4167C>G

Select item 14886732783.

rs1488673278 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 1:172139032 (GRCh38)
1:172108172 (GRCh37)
Canonical SPDI:: NC_000001.11:172139029:ATTAT:AT
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.172139032_172139034del, NC_000001.10:g.172108172_172108174del, NR_038397.2:n.5804_5806del, NR_103486.1:n.1898_1900del

Select item 14876782344.

rs1487678234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:172139494 (GRCh38)
1:172108634 (GRCh37)
Canonical SPDI:: NC_000001.11:172139493:A:G
Gene:: DNM3 (Varview), MIR214 (Varview), DNM3OS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.172139494A>G, NC_000001.10:g.172108634A>G, NR_038397.2:n.5342T>C, NR_103486.1:n.1436T>C

Select item 14840509675.

rs1484050967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:172138816 (GRCh38)
1:172107956 (GRCh37)
Canonical SPDI:: NC_000001.11:172138815:A:G,NC_000001.11:172138815:A:T
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.172138816A>G, NC_000001.11:g.172138816A>T, NC_000001.10:g.172107956A>G, NC_000001.10:g.172107956A>T, NR_038397.2:n.6020T>C, NR_038397.2:n.6020T>A, NR_103486.1:n.2114T>C, NR_103486.1:n.2114T>A, NR_029627.1:n.92T>C, NR_029627.1:n.92T>A, NR_036066.1:n.9A>G, NR_036066.1:n.9A>T

Select item 14830073976.

rs1483007397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:172139265 (GRCh38)
1:172108405 (GRCh37)
Canonical SPDI:: NC_000001.11:172139264:A:G
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_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_000001.11:g.172139265A>G, NC_000001.10:g.172108405A>G, NR_038397.2:n.5571T>C, NR_103486.1:n.1665T>C

Select item 14816709897.

rs1481670989 has merged into rs926351922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:172138363 (GRCh38)
1:172107503 (GRCh37)
Canonical SPDI:: NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.172138363_172138375del, NC_000001.11:g.172138364_172138375del, NC_000001.11:g.172138365_172138375del, NC_000001.11:g.172138366_172138375del, NC_000001.11:g.172138367_172138375del, NC_000001.11:g.172138368_172138375del, NC_000001.11:g.172138369_172138375del, NC_000001.11:g.172138370_172138375del, NC_000001.11:g.172138372_172138375del, NC_000001.11:g.172138373_172138375del, NC_000001.11:g.172138374_172138375del, NC_000001.11:g.172138375del, NC_000001.11:g.172138375dup, NC_000001.11:g.172138374_172138375dup, NC_000001.11:g.172138373_172138375dup, NC_000001.11:g.172138372_172138375dup, NC_000001.11:g.172138371_172138375dup, NC_000001.11:g.172138370_172138375dup, NC_000001.11:g.172138362_172138375dup, NC_000001.10:g.172107503_172107515del, NC_000001.10:g.172107504_172107515del, NC_000001.10:g.172107505_172107515del, NC_000001.10:g.172107506_172107515del, NC_000001.10:g.172107507_172107515del, NC_000001.10:g.172107508_172107515del, NC_000001.10:g.172107509_172107515del, NC_000001.10:g.172107510_172107515del, NC_000001.10:g.172107512_172107515del, NC_000001.10:g.172107513_172107515del, NC_000001.10:g.172107514_172107515del, NC_000001.10:g.172107515del, NC_000001.10:g.172107515dup, NC_000001.10:g.172107514_172107515dup, NC_000001.10:g.172107513_172107515dup, NC_000001.10:g.172107512_172107515dup, NC_000001.10:g.172107511_172107515dup, NC_000001.10:g.172107510_172107515dup, NC_000001.10:g.172107502_172107515dup, NR_038397.2:n.6472_6484del, NR_038397.2:n.6473_6484del, NR_038397.2:n.6474_6484del, NR_038397.2:n.6475_6484del, NR_038397.2:n.6476_6484del, NR_038397.2:n.6477_6484del, NR_038397.2:n.6478_6484del, NR_038397.2:n.6479_6484del, NR_038397.2:n.6481_6484del, NR_038397.2:n.6482_6484del, NR_038397.2:n.6483_6484del, NR_038397.2:n.6484del, NR_038397.2:n.6484dup, NR_038397.2:n.6483_6484dup, NR_038397.2:n.6482_6484dup, NR_038397.2:n.6481_6484dup, NR_038397.2:n.6480_6484dup, NR_038397.2:n.6479_6484dup, NR_038397.2:n.6471_6484dup, NR_103486.1:n.2566_2578del, NR_103486.1:n.2567_2578del, NR_103486.1:n.2568_2578del, NR_103486.1:n.2569_2578del, NR_103486.1:n.2570_2578del, NR_103486.1:n.2571_2578del, NR_103486.1:n.2572_2578del, NR_103486.1:n.2573_2578del, NR_103486.1:n.2575_2578del, NR_103486.1:n.2576_2578del, NR_103486.1:n.2577_2578del, NR_103486.1:n.2578del, NR_103486.1:n.2578dup, NR_103486.1:n.2577_2578dup, NR_103486.1:n.2576_2578dup, NR_103486.1:n.2575_2578dup, NR_103486.1:n.2574_2578dup, NR_103486.1:n.2573_2578dup, NR_103486.1:n.2565_2578dup

Select item 14815753798.

rs1481575379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:172138354 (GRCh38)
1:172107494 (GRCh37)
Canonical SPDI:: NC_000001.11:172138353:A:T
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.172138354A>T, NC_000001.10:g.172107494A>T, NR_038397.2:n.6482T>A, NR_103486.1:n.2576T>A

Select item 14807593639.

rs1480759363 has merged into rs926351922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:172138363 (GRCh38)
1:172107503 (GRCh37)
Canonical SPDI:: NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:172138351:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.172138363_172138375del, NC_000001.11:g.172138364_172138375del, NC_000001.11:g.172138365_172138375del, NC_000001.11:g.172138366_172138375del, NC_000001.11:g.172138367_172138375del, NC_000001.11:g.172138368_172138375del, NC_000001.11:g.172138369_172138375del, NC_000001.11:g.172138370_172138375del, NC_000001.11:g.172138372_172138375del, NC_000001.11:g.172138373_172138375del, NC_000001.11:g.172138374_172138375del, NC_000001.11:g.172138375del, NC_000001.11:g.172138375dup, NC_000001.11:g.172138374_172138375dup, NC_000001.11:g.172138373_172138375dup, NC_000001.11:g.172138372_172138375dup, NC_000001.11:g.172138371_172138375dup, NC_000001.11:g.172138370_172138375dup, NC_000001.11:g.172138362_172138375dup, NC_000001.10:g.172107503_172107515del, NC_000001.10:g.172107504_172107515del, NC_000001.10:g.172107505_172107515del, NC_000001.10:g.172107506_172107515del, NC_000001.10:g.172107507_172107515del, NC_000001.10:g.172107508_172107515del, NC_000001.10:g.172107509_172107515del, NC_000001.10:g.172107510_172107515del, NC_000001.10:g.172107512_172107515del, NC_000001.10:g.172107513_172107515del, NC_000001.10:g.172107514_172107515del, NC_000001.10:g.172107515del, NC_000001.10:g.172107515dup, NC_000001.10:g.172107514_172107515dup, NC_000001.10:g.172107513_172107515dup, NC_000001.10:g.172107512_172107515dup, NC_000001.10:g.172107511_172107515dup, NC_000001.10:g.172107510_172107515dup, NC_000001.10:g.172107502_172107515dup, NR_038397.2:n.6472_6484del, NR_038397.2:n.6473_6484del, NR_038397.2:n.6474_6484del, NR_038397.2:n.6475_6484del, NR_038397.2:n.6476_6484del, NR_038397.2:n.6477_6484del, NR_038397.2:n.6478_6484del, NR_038397.2:n.6479_6484del, NR_038397.2:n.6481_6484del, NR_038397.2:n.6482_6484del, NR_038397.2:n.6483_6484del, NR_038397.2:n.6484del, NR_038397.2:n.6484dup, NR_038397.2:n.6483_6484dup, NR_038397.2:n.6482_6484dup, NR_038397.2:n.6481_6484dup, NR_038397.2:n.6480_6484dup, NR_038397.2:n.6479_6484dup, NR_038397.2:n.6471_6484dup, NR_103486.1:n.2566_2578del, NR_103486.1:n.2567_2578del, NR_103486.1:n.2568_2578del, NR_103486.1:n.2569_2578del, NR_103486.1:n.2570_2578del, NR_103486.1:n.2571_2578del, NR_103486.1:n.2572_2578del, NR_103486.1:n.2573_2578del, NR_103486.1:n.2575_2578del, NR_103486.1:n.2576_2578del, NR_103486.1:n.2577_2578del, NR_103486.1:n.2578del, NR_103486.1:n.2578dup, NR_103486.1:n.2577_2578dup, NR_103486.1:n.2576_2578dup, NR_103486.1:n.2575_2578dup, NR_103486.1:n.2574_2578dup, NR_103486.1:n.2573_2578dup, NR_103486.1:n.2565_2578dup

Select item 147973484610.

rs1479734846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:172140387 (GRCh38)
1:172109527 (GRCh37)
Canonical SPDI:: NC_000001.11:172140386:A:G
Gene:: DNM3 (Varview), MIR214 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.172140387A>G, NC_000001.10:g.172109527A>G, NR_038397.2:n.4449T>C, NR_103486.1:n.543T>C

Select item 147832762411.

rs1478327624 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:172140760 (GRCh38)
1:172109900 (GRCh37)
Canonical SPDI:: NC_000001.11:172140759:TTTT:TTT
Gene:: DNM3 (Varview), MIR214 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.172140763del, NC_000001.10:g.172109903del, NR_038397.2:n.4076del

Select item 147733686612.

rs1477336866 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTA>- [Show Flanks]
Chromosome:: 1:172138396 (GRCh38)
1:172107536 (GRCh37)
Canonical SPDI:: NC_000001.11:172138393:TACTTA:TA
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.172138396_172138399del, NC_000001.10:g.172107536_172107539del, NR_038397.2:n.6439_6442del, NR_103486.1:n.2533_2536del

Select item 147572091413.

rs1475720914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:172140784 (GRCh38)
1:172109924 (GRCh37)
Canonical SPDI:: NC_000001.11:172140783:A:C
Gene:: DNM3 (Varview), MIR214 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.172140784A>C, NC_000001.10:g.172109924A>C, NR_038397.2:n.4052T>G

Select item 147099272614.

rs1470992726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:172138364 (GRCh38)
1:172107504 (GRCh37)
Canonical SPDI:: NC_000001.11:172138363:A:C,NC_000001.11:172138363:A:G
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.172138364A>C, NC_000001.11:g.172138364A>G, NC_000001.10:g.172107504A>C, NC_000001.10:g.172107504A>G, NR_038397.2:n.6472T>G, NR_038397.2:n.6472T>C, NR_103486.1:n.2566T>G, NR_103486.1:n.2566T>C

Select item 146980989015.

rs1469809890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:172139223 (GRCh38)
1:172108363 (GRCh37)
Canonical SPDI:: NC_000001.11:172139222:A:T
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.172139223A>T, NC_000001.10:g.172108363A>T, NR_038397.2:n.5613T>A, NR_103486.1:n.1707T>A

Select item 146660926616.

rs1466609266 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:172140880 (GRCh38)
1:172110021 (GRCh37)
Canonical SPDI:: NC_000001.11:172140880:AAAA:AAAAA
Gene:: DNM3 (Varview), MIR214 (Varview), DNM3OS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.172140884dup, NC_000001.10:g.172110024dup, NR_038397.2:n.3955dup

Select item 146643539917.

rs1466435399 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:172139220 (GRCh38)
1:172108361 (GRCh37)
Canonical SPDI:: NC_000001.11:172139220:A:AA
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.172139221dup, NC_000001.10:g.172108361dup, NR_038397.2:n.5615dup, NR_103486.1:n.1709dup

Select item 146496519018.

rs1464965190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:172138472 (GRCh38)
1:172107612 (GRCh37)
Canonical SPDI:: NC_000001.11:172138471:T:C
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.172138472T>C, NC_000001.10:g.172107612T>C, NR_038397.2:n.6364A>G, NR_103486.1:n.2458A>G

Select item 146270739619.

rs1462707396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:172138343 (GRCh38)
1:172107483 (GRCh37)
Canonical SPDI:: NC_000001.11:172138342:T:A,NC_000001.11:172138342:T:C,NC_000001.11:172138342:T:G
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.0729/213 (KOREAN)
HGVS:: NC_000001.11:g.172138343T>A, NC_000001.11:g.172138343T>C, NC_000001.11:g.172138343T>G, NC_000001.10:g.172107483T>A, NC_000001.10:g.172107483T>C, NC_000001.10:g.172107483T>G, NR_038397.2:n.6493A>T, NR_038397.2:n.6493A>G, NR_038397.2:n.6493A>C, NR_103486.1:n.2587A>T, NR_103486.1:n.2587A>G, NR_103486.1:n.2587A>C

Select item 146221074920.

rs1462210749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:172138351 (GRCh38)
1:172107491 (GRCh37)
Canonical SPDI:: NC_000001.11:172138350:C:A,NC_000001.11:172138350:C:T
Gene:: DNM3 (Varview), MIR214 (Varview), MIR3120 (Varview), DNM3OS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.10068/295 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.172138351C>A, NC_000001.11:g.172138351C>T, NC_000001.10:g.172107491C>A, NC_000001.10:g.172107491C>T, NR_038397.2:n.6485G>T, NR_038397.2:n.6485G>A, NR_103486.1:n.2579G>T, NR_103486.1:n.2579G>A

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