SNP Links for Gene (Select 653786) - SNP

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Select item 14913617341.

rs1491361734 has merged into rs1225502213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 16:22572883 (GRCh38)
16:22584204 (GRCh37)
Canonical SPDI:: NC_000016.10:22572876:TTTTTTTT:TTTTTT,NC_000016.10:22572876:TTTTTTTT:TTTTTTT,NC_000016.10:22572876:TTTTTTTT:TTTTTTTTT,NC_000016.10:22572876:TTTTTTTT:TTTTTTTTTT
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TT=0.00006/1 (TOMMO)
HGVS:: NC_000016.10:g.22572883_22572884del, NC_000016.10:g.22572884del, NC_000016.10:g.22572884dup, NC_000016.10:g.22572883_22572884dup, NC_000016.9:g.22584204_22584205del, NC_000016.9:g.22584205del, NC_000016.9:g.22584205dup, NC_000016.9:g.22584204_22584205dup, NW_017852933.1:g.1739088_1739089del, NW_017852933.1:g.1739089del, NW_017852933.1:g.1739089dup, NW_017852933.1:g.1739088_1739089dup

Select item 14913431102.

rs1491343110 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 16:22568443 (GRCh38)
16:22579764 (GRCh37)
Canonical SPDI:: NC_000016.10:22568441:TTT:T
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001433/17 (ALFA)
-=0.000551/1 (Korea1K)
-=0.000678/11 (TOMMO)
-=0.002028/277 (GnomAD)
HGVS:: NC_000016.10:g.22568443_22568444del, NC_000016.9:g.22579764_22579765del, NW_017852933.1:g.1734648_1734649del

Select item 14913150583.

rs1491315058 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:22572877 (GRCh38)
16:22584199 (GRCh37)
Canonical SPDI:: NC_000016.10:22572877::C
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.22572877_22572878insC, NC_000016.9:g.22584198_22584199insC, NW_017852933.1:g.1739082_1739083insC

Select item 14912114764.

rs1491211476 has merged into rs1443632707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 16:22570223 (GRCh38)
16:22581544 (GRCh37)
Canonical SPDI:: NC_000016.10:22570217:TTTTTTT:TTTTT,NC_000016.10:22570217:TTTTTTT:TTTTTT,NC_000016.10:22570217:TTTTTTT:TTTTTTTT
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0.00012/2 (ALFA)
-=0.03833/23 (NorthernSweden)
HGVS:: NC_000016.10:g.22570223_22570224del, NC_000016.10:g.22570224del, NC_000016.10:g.22570224dup, NC_000016.9:g.22581544_22581545del, NC_000016.9:g.22581545del, NC_000016.9:g.22581545dup, NW_017852933.1:g.1736428_1736429del, NW_017852933.1:g.1736429del, NW_017852933.1:g.1736429dup

Select item 14912037115.

rs1491203711 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:22568442 (GRCh38)
16:22579764 (GRCh37)
Canonical SPDI:: NC_000016.10:22568442::G
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00025/4 (TOMMO)
G=0.000711/97 (GnomAD)
HGVS:: NC_000016.10:g.22568442_22568443insG, NC_000016.9:g.22579763_22579764insG, NW_017852933.1:g.1734647_1734648insG

Select item 14911674946.

rs1491167494 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:22570218 (GRCh38)
16:22581540 (GRCh37)
Canonical SPDI:: NC_000016.10:22570218::A
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000076/10 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000016.10:g.22570218_22570219insA, NC_000016.9:g.22581539_22581540insA, NW_017852933.1:g.1736423_1736424insA

Select item 14910788387.

rs1491078838 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GG
Chromosome:: no mapping
Canonical SPDI:

Select item 14909409268.

rs1490940926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:22545722 (GRCh38)
16:22557043 (GRCh37)
Canonical SPDI:: NC_000016.10:22545721:A:C,NC_000016.10:22545721:A:G
Gene:: OTOAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000021/3 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.22545722A>C, NC_000016.10:g.22545722A>G, NC_000016.9:g.22557043A>C, NC_000016.9:g.22557043A>G, NW_017852933.1:g.1711931A>C, NW_017852933.1:g.1711931A>G, NR_003676.3:n.25A>C, NR_003676.3:n.25A>G, NR_003676.2:n.25A>C, NR_003676.2:n.25A>G

Select item 14909272639.

rs1490927263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22575453 (GRCh38)
16:22586774 (GRCh37)
Canonical SPDI:: NC_000016.10:22575452:T:C
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.22575453T>C, NC_000016.9:g.22586774T>C, NW_017852933.1:g.1741658T>C

Select item 149090502110.

rs1490905021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22569379 (GRCh38)
16:22580700 (GRCh37)
Canonical SPDI:: NC_000016.10:22569378:T:C
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.22569379T>C, NC_000016.9:g.22580700T>C, NW_017852933.1:g.1735584T>C

Select item 149085622511.

rs1490856225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22553453 (GRCh38)
16:22564774 (GRCh37)
Canonical SPDI:: NC_000016.10:22553452:C:T
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.22553453C>T, NC_000016.9:g.22564774C>T, NW_017852933.1:g.1719662C>T

Select item 149082614112.

rs1490826141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:22562445 (GRCh38)
16:22573766 (GRCh37)
Canonical SPDI:: NC_000016.10:22562444:G:T
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.22562445G>T, NC_000016.9:g.22573766G>T, NW_017852933.1:g.1728653G>T

Select item 149080095113.

rs1490800951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:22563385 (GRCh38)
16:22574706 (GRCh37)
Canonical SPDI:: NC_000016.10:22563384:C:G
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.22563385C>G, NC_000016.9:g.22574706C>G, NW_017852933.1:g.1729593C>G

Select item 149071020114.

rs1490710201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22562958 (GRCh38)
16:22574279 (GRCh37)
Canonical SPDI:: NC_000016.10:22562957:C:T
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/3 (GnomAD)
T=0.00046/7 (TOMMO)
HGVS:: NC_000016.10:g.22562958C>T, NC_000016.9:g.22574279C>T, NW_017852933.1:g.1729166C>T

Select item 149068562115.

rs1490685621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22565356 (GRCh38)
16:22576677 (GRCh37)
Canonical SPDI:: NC_000016.10:22565355:A:G
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.22565356A>G, NC_000016.9:g.22576677A>G, NW_017852933.1:g.1731564A>G

Select item 149066351816.

rs1490663518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:22548840 (GRCh38)
16:22560161 (GRCh37)
Canonical SPDI:: NC_000016.10:22548839:A:C,NC_000016.10:22548839:A:T
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000114/16 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.22548840A>C, NC_000016.10:g.22548840A>T, NC_000016.9:g.22560161A>C, NC_000016.9:g.22560161A>T, NW_017852933.1:g.1715049A>C, NW_017852933.1:g.1715049A>T

Select item 149053822117.

rs1490538221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22574389 (GRCh38)
16:22585710 (GRCh37)
Canonical SPDI:: NC_000016.10:22574388:T:C
Gene:: OTOAP1 (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_000016.10:g.22574389T>C, NC_000016.9:g.22585710T>C, NW_017852933.1:g.1740594T>C

Select item 149046232818.

rs1490462328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:22576834 (GRCh38)
16:22588155 (GRCh37)
Canonical SPDI:: NC_000016.10:22576833:A:T
Gene:: OTOAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.22576834A>T, NC_000016.9:g.22588155A>T, NW_017852933.1:g.1743039A>T, NR_003676.3:n.2630A>T, NR_003676.2:n.2630A>T

Select item 149043629919.

rs1490436299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:22575936 (GRCh38)
16:22587257 (GRCh37)
Canonical SPDI:: NC_000016.10:22575935:A:C
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.22575936A>C, NC_000016.9:g.22587257A>C, NW_017852933.1:g.1742141A>C

Select item 149042648820.

rs1490426488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22549836 (GRCh38)
16:22561157 (GRCh37)
Canonical SPDI:: NC_000016.10:22549835:T:C
Gene:: OTOAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.22549836T>C, NC_000016.9:g.22561157T>C, NW_017852933.1:g.1716045T>C

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