SNP Links for Gene (Select 51633) - SNP

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Select item 14912356691.

rs1491235669 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTAAGGAG [Show Flanks]
Chromosome:: 8:91078178 (GRCh38)
8:92090407 (GRCh37)
Canonical SPDI:: NC_000008.11:91078178:GAGAGTAAGGAG:GAGAGTAAGGAGAGTAAGGAG
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGTAAGGAGAGTAAGGAG=0./0 (ALFA)
GAGAGTAAG=0.000014/2 (GnomAD)
GAGAGTAAG=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.91078182_91078190dup, NC_000008.10:g.92090410_92090418dup

Select item 14909093792.

rs1490909379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91072020 (GRCh38)
8:92084248 (GRCh37)
Canonical SPDI:: NC_000008.11:91072019:A:G
Gene:: OTUD6B (Varview), OTUD6B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.91072020A>G, NC_000008.10:g.92084248A>G

Select item 14906913343.

rs1490691334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:91073637 (GRCh38)
8:92085865 (GRCh37)
Canonical SPDI:: NC_000008.11:91073636:G:A
Gene:: OTUD6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.91073637G>A, NC_000008.10:g.92085865G>A

Select item 14904173764.

rs1490417376 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:91071582 (GRCh38)
8:92083810 (GRCh37)
Canonical SPDI:: NC_000008.11:91071581:TT:T
Gene:: OTUD6B (Varview), OTUD6B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.91071583del, NC_000008.10:g.92083811del

Select item 14900870985.

rs1490087098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91072574 (GRCh38)
8:92084802 (GRCh37)
Canonical SPDI:: NC_000008.11:91072573:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.91072574A>G, NC_000008.10:g.92084802A>G

Select item 14900224846.

rs1490022484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:91081008 (GRCh38)
8:92093236 (GRCh37)
Canonical SPDI:: NC_000008.11:91081007:G:T
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.91081008G>T, NC_000008.10:g.92093236G>T

Select item 14899973027.

rs1489997302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:91079908 (GRCh38)
8:92092136 (GRCh37)
Canonical SPDI:: NC_000008.11:91079907:G:A
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.91079908G>A, NC_000008.10:g.92092136G>A

Select item 14899003808.

rs1489900380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:91077670 (GRCh38)
8:92089898 (GRCh37)
Canonical SPDI:: NC_000008.11:91077669:G:A
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.91077670G>A, NC_000008.10:g.92089898G>A

Select item 14895345749.

rs1489534574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:91086907 (GRCh38)
8:92099135 (GRCh37)
Canonical SPDI:: NC_000008.11:91086906:C:G,NC_000008.11:91086906:C:T
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_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)
G=0.001092/2 (Korea1K)
HGVS:: NC_000008.11:g.91086907C>G, NC_000008.11:g.91086907C>T, NC_000008.10:g.92099135C>G, NC_000008.10:g.92099135C>T, NM_016023.5:c.*2039C>G, NM_016023.5:c.*2039C>T, NM_016023.4:c.*2039C>G, NM_016023.4:c.*2039C>T, NM_016023.3:c.*2039C>G, NM_016023.3:c.*2039C>T, NM_001286745.3:c.*2039C>G, NM_001286745.3:c.*2039C>T, NM_001286745.2:c.*2039C>G, NM_001286745.2:c.*2039C>T, NM_001286745.1:c.*2039C>G, NM_001286745.1:c.*2039C>T, XM_011517129.3:c.*2039C>G, XM_011517129.3:c.*2039C>T, XM_011517129.2:c.*2039C>G, XM_011517129.2:c.*2039C>T

Select item 148950279910.

rs1489502799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:91085770 (GRCh38)
8:92097998 (GRCh37)
Canonical SPDI:: NC_000008.11:91085769:G:C
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.91085770G>C, NC_000008.10:g.92097998G>C, NM_016023.5:c.*902G>C, NM_016023.4:c.*902G>C, NM_016023.3:c.*902G>C, NM_001286745.3:c.*902G>C, NM_001286745.2:c.*902G>C, NM_001286745.1:c.*902G>C, XM_011517129.3:c.*902G>C, XM_011517129.2:c.*902G>C

Select item 148935969311.

rs1489359693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:91078140 (GRCh38)
8:92090368 (GRCh37)
Canonical SPDI:: NC_000008.11:91078139:C:T
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000212/4 (TOMMO)
HGVS:: NC_000008.11:g.91078140C>T, NC_000008.10:g.92090368C>T

Select item 148935549112.

rs1489355491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91076573 (GRCh38)
8:92088801 (GRCh37)
Canonical SPDI:: NC_000008.11:91076572:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.91076573A>G, NC_000008.10:g.92088801A>G

Select item 148928445513.

rs1489284455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:91082527 (GRCh38)
8:92094755 (GRCh37)
Canonical SPDI:: NC_000008.11:91082526:T:C
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.91082527T>C, NC_000008.10:g.92094755T>C

Select item 148898149614.

rs1488981496 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:91070182 (GRCh38)
8:92082411 (GRCh37)
Canonical SPDI:: NC_000008.11:91070182:GGG:GGGG
Gene:: OTUD6B (Varview), OTUD6B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.91070185dup, NC_000008.10:g.92082413dup, NR_110438.1:n.7dup, NR_110439.1:n.7dup

Select item 148878592515.

rs1488785925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:91076809 (GRCh38)
8:92089037 (GRCh37)
Canonical SPDI:: NC_000008.11:91076808:T:C
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.91076809T>C, NC_000008.10:g.92089037T>C

Select item 148868563216.

rs1488685632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:91069162 (GRCh38)
8:92081390 (GRCh37)
Canonical SPDI:: NC_000008.11:91069161:T:C
Gene:: OTUD6B (Varview), OTUD6B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.91069162T>C, NC_000008.10:g.92081390T>C, NR_110439.1:n.920A>G

Select item 148823321417.

rs1488233214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:91078843 (GRCh38)
8:92091071 (GRCh37)
Canonical SPDI:: NC_000008.11:91078842:C:T
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000008.11:g.91078843C>T, NC_000008.10:g.92091071C>T

Select item 148799612118.

rs1487996121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91072323 (GRCh38)
8:92084551 (GRCh37)
Canonical SPDI:: NC_000008.11:91072322:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.91072323A>G, NC_000008.10:g.92084551A>G

Select item 148736639819.

rs1487366398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91073301 (GRCh38)
8:92085529 (GRCh37)
Canonical SPDI:: NC_000008.11:91073300:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.91073301A>G, NC_000008.10:g.92085529A>G

Select item 148680678020.

rs1486806780 [Homo sapiens]

Variant type:: DEL
Alleles:: AAG>- [Show Flanks]
Chromosome:: 8:91085412 (GRCh38)
8:92097640 (GRCh37)
Canonical SPDI:: NC_000008.11:91085411:AAG:
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.91085412_91085414del, NC_000008.10:g.92097640_92097642del, NM_016023.5:c.*544_*546del, NM_016023.4:c.*544_*546del, NM_016023.3:c.*544_*546del, NM_001286745.3:c.*544_*546del, NM_001286745.2:c.*544_*546del, NM_001286745.1:c.*544_*546del, XM_011517129.3:c.*544_*546del, XM_011517129.2:c.*544_*546del

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