SNP Links for Protein (Select 636526419) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17573139 (GRCh38)
11:17594686 (GRCh37)
Canonical SPDI:: NC_000011.10:17573138:G:A
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000028/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17573139G>A, NC_000011.9:g.17594686G>A, NG_033191.2:g.30767G>A, NM_001277269.2:c.2178G>A, NM_001277269.1:c.2178G>A, NM_001292063.2:c.2142G>A, NM_001292063.1:c.2142G>A

Select item 14897851716.

rs1489785171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:17573197 (GRCh38)
11:17594744 (GRCh37)
Canonical SPDI:: NC_000011.10:17573196:C:T
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
HGVS:: NC_000011.10:g.17573197C>T, NC_000011.9:g.17594744C>T, NG_033191.2:g.30825C>T, NM_001277269.2:c.2236C>T, NM_001277269.1:c.2236C>T, NM_001292063.2:c.2200C>T, NM_001292063.1:c.2200C>T, NP_001264198.1:p.Gln746Ter, NP_001278992.1:p.Gln734Ter

Select item 14894843837.

rs1489484383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:17555814 (GRCh38)
11:17577361 (GRCh37)
Canonical SPDI:: NC_000011.10:17555813:C:A
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17555814C>A, NC_000011.9:g.17577361C>A, NG_033191.2:g.13442C>A, NM_001277269.2:c.612C>A, NM_001277269.1:c.612C>A, NM_001292063.2:c.576C>A, NM_001292063.1:c.576C>A, NP_001264198.1:p.Tyr204Ter, NP_001278992.1:p.Tyr192Ter

Select item 14893113668.

rs1489311366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17605953 (GRCh38)
11:17627500 (GRCh37)
Canonical SPDI:: NC_000011.10:17605952:G:A
Gene:: OTOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00002/3 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.17605953G>A, NC_000011.9:g.17627500G>A, NG_033191.2:g.63581G>A, NM_001277269.2:c.4010G>A, NM_001277269.1:c.4010G>A, NM_001292063.2:c.3974G>A, NM_001292063.1:c.3974G>A, NM_198497.1:c.1028G>A, NP_001264198.1:p.Arg1337His, NP_001278992.1:p.Arg1325His

Select item 14891433789.

rs1489143378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17574761 (GRCh38)
11:17596308 (GRCh37)
Canonical SPDI:: NC_000011.10:17574760:G:A
Gene:: OTOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.17574761G>A, NC_000011.9:g.17596308G>A, NG_033191.2:g.32389G>A, NM_001277269.2:c.2371G>A, NM_001277269.1:c.2371G>A, NM_001292063.2:c.2335G>A, NM_001292063.1:c.2335G>A, NP_001264198.1:p.Ala791Thr, NP_001278992.1:p.Ala779Thr

Select item 148914175010.

rs1489141750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:17576883 (GRCh38)
11:17598430 (GRCh37)
Canonical SPDI:: NC_000011.10:17576882:A:C,NC_000011.10:17576882:A:G
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.17576883A>C, NC_000011.10:g.17576883A>G, NC_000011.9:g.17598430A>C, NC_000011.9:g.17598430A>G, NG_033191.2:g.34511A>C, NG_033191.2:g.34511A>G, NM_001277269.2:c.2613A>C, NM_001277269.2:c.2613A>G, NM_001277269.1:c.2613A>C, NM_001277269.1:c.2613A>G, NM_001292063.2:c.2577A>C, NM_001292063.2:c.2577A>G, NM_001292063.1:c.2577A>C, NM_001292063.1:c.2577A>G

Select item 148873345011.

rs1488733450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:17573238 (GRCh38)
11:17594785 (GRCh37)
Canonical SPDI:: NC_000011.10:17573237:G:C
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.17573238G>C, NC_000011.9:g.17594785G>C, NG_033191.2:g.30866G>C, NM_001277269.2:c.2277G>C, NM_001277269.1:c.2277G>C, NM_001292063.2:c.2241G>C, NM_001292063.1:c.2241G>C

Select item 148843243612.

rs1488432436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:17609938 (GRCh38)
11:17631485 (GRCh37)
Canonical SPDI:: NC_000011.10:17609937:G:A,NC_000011.10:17609937:G:T
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.17609938G>A, NC_000011.10:g.17609938G>T, NC_000011.9:g.17631485G>A, NC_000011.9:g.17631485G>T, NG_033191.2:g.67566G>A, NG_033191.2:g.67566G>T, NM_001277269.2:c.4674G>A, NM_001277269.2:c.4674G>T, NM_001277269.1:c.4674G>A, NM_001277269.1:c.4674G>T, NM_001292063.2:c.4638G>A, NM_001292063.2:c.4638G>T, NM_001292063.1:c.4638G>A, NM_001292063.1:c.4638G>T, NM_198497.1:c.1692G>A, NM_198497.1:c.1692G>T

Select item 148842437313.

rs1488424373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17560749 (GRCh38)
11:17582296 (GRCh37)
Canonical SPDI:: NC_000011.10:17560748:G:A
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.17560749G>A, NC_000011.9:g.17582296G>A, NG_033191.2:g.18377G>A, NM_001277269.2:c.1419G>A, NM_001277269.1:c.1419G>A, NM_001292063.2:c.1383G>A, NM_001292063.1:c.1383G>A

Select item 148828632614.

rs1488286326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:17591574 (GRCh38)
11:17613121 (GRCh37)
Canonical SPDI:: NC_000011.10:17591573:G:C
Gene:: OTOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17591574G>C, NC_000011.9:g.17613121G>C, NG_033191.2:g.49202G>C, NM_001277269.2:c.3028G>C, NM_001277269.1:c.3028G>C, NM_001292063.2:c.2992G>C, NM_001292063.1:c.2992G>C, NP_001264198.1:p.Val1010Leu, NP_001278992.1:p.Val998Leu

Select item 148805767315.

rs1488057673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:17548192 (GRCh38)
11:17569739 (GRCh37)
Canonical SPDI:: NC_000011.10:17548191:G:A,NC_000011.10:17548191:G:T
Gene:: OTOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.17548192G>A, NC_000011.10:g.17548192G>T, NC_000011.9:g.17569739G>A, NC_000011.9:g.17569739G>T, NG_033191.2:g.5820G>A, NG_033191.2:g.5820G>T, NM_001277269.2:c.232G>A, NM_001277269.2:c.232G>T, NM_001277269.1:c.232G>A, NM_001277269.1:c.232G>T, NM_001292063.2:c.196G>A, NM_001292063.2:c.196G>T, NM_001292063.1:c.196G>A, NM_001292063.1:c.196G>T, NG_011883.2:g.1225C>T, NG_011883.2:g.1225C>A, NP_001264198.1:p.Ala78Thr, NP_001264198.1:p.Ala78Ser, NP_001278992.1:p.Ala66Thr, NP_001278992.1:p.Ala66Ser

Select item 148730539616.

rs1487305396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17593660 (GRCh38)
11:17615207 (GRCh37)
Canonical SPDI:: NC_000011.10:17593659:G:A
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17593660G>A, NC_000011.9:g.17615207G>A, NG_033191.2:g.51288G>A, NM_001277269.2:c.3228G>A, NM_001277269.1:c.3228G>A, NM_001292063.2:c.3192G>A, NM_001292063.1:c.3192G>A, NM_198497.1:c.273G>A

Select item 148724593817.

rs1487245938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:17574827 (GRCh38)
11:17596374 (GRCh37)
Canonical SPDI:: NC_000011.10:17574826:G:T
Gene:: OTOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.17574827G>T, NC_000011.9:g.17596374G>T, NG_033191.2:g.32455G>T, NM_001277269.2:c.2437G>T, NM_001277269.1:c.2437G>T, NM_001292063.2:c.2401G>T, NM_001292063.1:c.2401G>T, NP_001264198.1:p.Asp813Tyr, NP_001278992.1:p.Asp801Tyr

Select item 148714418618.

rs1487144186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:17612280 (GRCh38)
11:17633827 (GRCh37)
Canonical SPDI:: NC_000011.10:17612279:T:C
Gene:: OTOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.17612280T>C, NC_000011.9:g.17633827T>C, NG_033191.2:g.69908T>C, NM_001277269.2:c.6278T>C, NM_001277269.1:c.6278T>C, NM_001292063.2:c.6242T>C, NM_001292063.1:c.6242T>C, NM_198497.1:c.3296T>C, NP_001264198.1:p.Leu2093Pro, NP_001278992.1:p.Leu2081Pro

Select item 148692676619.

rs1486926766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:17634939 (GRCh38)
11:17656486 (GRCh37)
Canonical SPDI:: NC_000011.10:17634938:T:C
Gene:: OTOG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17634939T>C, NC_000011.9:g.17656486T>C, NG_033191.2:g.92567T>C, NM_001277269.2:c.7612T>C, NM_001277269.1:c.7612T>C, NM_001292063.2:c.7576T>C, NM_001292063.1:c.7576T>C, NP_001264198.1:p.Tyr2538His, NP_001278992.1:p.Tyr2526His

Select item 148683149220.

rs1486831492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:17610718 (GRCh38)
11:17632265 (GRCh37)
Canonical SPDI:: NC_000011.10:17610717:C:G
Gene:: OTOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.17610718C>G, NC_000011.9:g.17632265C>G, NG_033191.2:g.68346C>G, NM_001277269.2:c.5454C>G, NM_001277269.1:c.5454C>G, NM_001292063.2:c.5418C>G, NM_001292063.1:c.5418C>G, NM_198497.1:c.2472C>G

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