SNP Links for Gene (Select 100874342) - SNP

Links from Gene

Items: 1 to 20 of 5606

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Select item 14913562671.

rs1491356267 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTTTT [Show Flanks]
Chromosome:: 7:5675715 (GRCh38)
7:5715347 (GRCh37)
Canonical SPDI:: NC_000007.14:5675715:TTTTTTTTTT:TTTTTTTTTTGTTTTTTTTTT
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTTGTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.5675716_5675725T[10]GTTTTTTTTTT[1], NC_000007.13:g.5715347_5715356T[10]GTTTTTTTTTT[1], NG_029374.2:g.110938_110947A[10]CAAAAAAAAAA[1], NG_029374.1:g.111006_111015A[10]CAAAAAAAAAA[1]

Select item 14908096892.

rs1490809689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:5677901 (GRCh38)
7:5717532 (GRCh37)
Canonical SPDI:: NC_000007.14:5677900:C:G
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.5677901C>G, NC_000007.13:g.5717532C>G, NG_029374.2:g.108762G>C, NG_029374.1:g.108830G>C

Select item 14907007613.

rs1490700761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5670000 (GRCh38)
7:5709631 (GRCh37)
Canonical SPDI:: NC_000007.14:5669999:C:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5670000C>T, NC_000007.13:g.5709631C>T, NG_029374.2:g.116663G>A, NG_029374.1:g.116731G>A

Select item 14906442754.

rs1490644275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:5678297 (GRCh38)
7:5717928 (GRCh37)
Canonical SPDI:: NC_000007.14:5678296:T:A,NC_000007.14:5678296:T:C
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.5678297T>A, NC_000007.14:g.5678297T>C, NC_000007.13:g.5717928T>A, NC_000007.13:g.5717928T>C, NG_029374.2:g.108366A>T, NG_029374.2:g.108366A>G, NG_029374.1:g.108434A>T, NG_029374.1:g.108434A>G

Select item 14905161685.

rs1490516168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:5666834 (GRCh38)
7:5706465 (GRCh37)
Canonical SPDI:: NC_000007.14:5666833:A:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00241/40 (TOMMO)
HGVS:: NC_000007.14:g.5666834A>T, NC_000007.13:g.5706465A>T, NG_029374.2:g.119829T>A, NG_029374.1:g.119897T>A

Select item 14904716816.

rs1490471681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:5673823 (GRCh38)
7:5713454 (GRCh37)
Canonical SPDI:: NC_000007.14:5673822:G:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.5673823G>T, NC_000007.13:g.5713454G>T, NG_029374.2:g.112840C>A, NG_029374.1:g.112908C>A

Select item 14903184507.

rs1490318450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5677522 (GRCh38)
7:5717153 (GRCh37)
Canonical SPDI:: NC_000007.14:5677521:T:C
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_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_000007.14:g.5677522T>C, NC_000007.13:g.5717153T>C, NG_029374.2:g.109141A>G, NG_029374.1:g.109209A>G

Select item 14900683378.

rs1490068337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:5675865 (GRCh38)
7:5715496 (GRCh37)
Canonical SPDI:: NC_000007.14:5675864:A:G
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5675865A>G, NC_000007.13:g.5715496A>G, NG_029374.2:g.110798T>C, NG_029374.1:g.110866T>C

Select item 14900638859.

rs1490063885 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 7:5676703 (GRCh38)
7:5716334 (GRCh37)
Canonical SPDI:: NC_000007.14:5676700:TTCTT:TT
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.5676703_5676705del, NC_000007.13:g.5716334_5716336del, NG_029374.2:g.109960_109962del, NG_029374.1:g.110028_110030del

Select item 149005314910.

rs1490053149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5662431 (GRCh38)
7:5702062 (GRCh37)
Canonical SPDI:: NC_000007.14:5662430:C:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.5662431C>T, NC_000007.13:g.5702062C>T, NG_029374.2:g.124232G>A, NG_029374.1:g.124300G>A

Select item 148997758011.

rs1489977580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5674591 (GRCh38)
7:5714222 (GRCh37)
Canonical SPDI:: NC_000007.14:5674590:G:A
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.5674591G>A, NC_000007.13:g.5714222G>A, NG_029374.2:g.112072C>T, NG_029374.1:g.112140C>T

Select item 148995275612.

rs1489952756 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:5676207 (GRCh38)
7:5715839 (GRCh37)
Canonical SPDI:: NC_000007.14:5676207::C
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000318/5 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.5676207_5676208insC, NC_000007.13:g.5715838_5715839insC, NG_029374.2:g.110455_110456insG, NG_029374.1:g.110523_110524insG

Select item 148991097013.

rs1489910970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5666000 (GRCh38)
7:5705631 (GRCh37)
Canonical SPDI:: NC_000007.14:5665999:C:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_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_000007.14:g.5666000C>T, NC_000007.13:g.5705631C>T, NG_029374.2:g.120663G>A, NG_029374.1:g.120731G>A

Select item 148989852314.

rs1489898523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:5677082 (GRCh38)
7:5716713 (GRCh37)
Canonical SPDI:: NC_000007.14:5677081:C:A
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.5677082C>A, NC_000007.13:g.5716713C>A, NG_029374.2:g.109581G>T, NG_029374.1:g.109649G>T

Select item 148979953015.

rs1489799530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5671000 (GRCh38)
7:5710631 (GRCh37)
Canonical SPDI:: NC_000007.14:5670999:G:A
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.5671000G>A, NC_000007.13:g.5710631G>A, NG_029374.2:g.115663C>T, NG_029374.1:g.115731C>T

Select item 148979236716.

rs1489792367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:5682093 (GRCh38)
7:5721724 (GRCh37)
Canonical SPDI:: NC_000007.14:5682092:A:G
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.5682093A>G, NC_000007.13:g.5721724A>G, NG_029374.2:g.104570T>C, NG_029374.1:g.104638T>C

Select item 148944022817.

rs1489440228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:5663675 (GRCh38)
7:5703306 (GRCh37)
Canonical SPDI:: NC_000007.14:5663674:C:A,NC_000007.14:5663674:C:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5663675C>A, NC_000007.14:g.5663675C>T, NC_000007.13:g.5703306C>A, NC_000007.13:g.5703306C>T, NG_029374.2:g.122988G>T, NG_029374.2:g.122988G>A, NG_029374.1:g.123056G>T, NG_029374.1:g.123056G>A

Select item 148941002018.

rs1489410020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:5664394 (GRCh38)
7:5704025 (GRCh37)
Canonical SPDI:: NC_000007.14:5664393:C:G
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.5664394C>G, NC_000007.13:g.5704025C>G, NG_029374.2:g.122269G>C, NG_029374.1:g.122337G>C

Select item 148922373819.

rs1489223738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:5676218 (GRCh38)
7:5715849 (GRCh37)
Canonical SPDI:: NC_000007.14:5676217:G:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.5676218G>T, NC_000007.13:g.5715849G>T, NG_029374.2:g.110445C>A, NG_029374.1:g.110513C>A

Select item 148915334120.

rs1489153341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:5670199 (GRCh38)
7:5709830 (GRCh37)
Canonical SPDI:: NC_000007.14:5670198:G:T
Gene:: RNF216 (Varview), RNF216-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5670199G>T, NC_000007.13:g.5709830G>T, NG_029374.2:g.116464C>A, NG_029374.1:g.116532C>A

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