SNP Links for Gene (Select 133060) - SNP

Links from Gene

Items: 1 to 20 of 10303

<< First< Prev

Page of 516

Next >Last >>

Select item 14915849461.

rs1491584946 has merged into rs202242761 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:4218404 (GRCh38)
4:4220131 (GRCh37)
Canonical SPDI:: NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:4218391:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.4325/2166 (1000Genomes)
HGVS:: NC_000004.12:g.4218404_4218405del, NC_000004.12:g.4218405del, NC_000004.12:g.4218405dup, NC_000004.12:g.4218404_4218405dup, NC_000004.12:g.4218403_4218405dup, NC_000004.12:g.4218402_4218405dup, NC_000004.12:g.4218399_4218405dup, NC_000004.12:g.4218392_4218405dup, NC_000004.11:g.4220131_4220132del, NC_000004.11:g.4220132del, NC_000004.11:g.4220132dup, NC_000004.11:g.4220131_4220132dup, NC_000004.11:g.4220130_4220132dup, NC_000004.11:g.4220129_4220132dup, NC_000004.11:g.4220126_4220132dup, NC_000004.11:g.4220119_4220132dup

Select item 14915069942.

rs1491506994 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG,TGTGTGCG [Show Flanks]
Chromosome:: 4:4204749 (GRCh38)
4:4206477 (GRCh37)
Canonical SPDI:: NC_000004.12:4204749:G:GTGCG,NC_000004.12:4204749:G:GTGTGTGCG
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGCG=0./0 (ALFA)
GTGC=0.000058/8 (GnomAD)
GTGC=0.013837/232 (TOMMO)
HGVS:: NC_000004.12:g.4204750_4204751insTGCG, NC_000004.12:g.4204750GT[3]GCG[1], NC_000004.11:g.4206477_4206478insTGCG, NC_000004.11:g.4206477GT[3]GCG[1]

Select item 14914798573.

rs1491479857 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:4220050 (GRCh38)
4:4221778 (GRCh37)
Canonical SPDI:: NC_000004.12:4220050::GT
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GT=0./0 (ALFA)
HGVS:: NC_000004.12:g.4220050_4220051insGT, NC_000004.11:g.4221777_4221778insGT

Select item 14914763154.

rs1491476315 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCC [Show Flanks]
Chromosome:: 4:4226644 (GRCh38)
4:4228372 (GRCh37)
Canonical SPDI:: NC_000004.12:4226644:GCC:GCCGCC
Gene:: OTOP1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCC=0./0 (ALFA)
GCC=0.000004/1 (TOPMED)
GCC=0.000007/1 (GnomAD)
GCC=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.4226645_4226647dup, NC_000004.11:g.4228372_4228374dup, NM_177998.3:c.218_220dup, NM_177998.2:c.218_220dup, NM_177998.1:c.218_220dup, NP_819056.1:p.Leu74_Leu75insArg

Select item 14914402805.

rs1491440280 [Homo sapiens]

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

Select item 14914241086.

rs1491424108 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:4226644 (GRCh38)
4:4228371 (GRCh37)
Canonical SPDI:: NC_000004.12:4226643:AG:
Gene:: OTOP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.02511/281 (GoESP)
HGVS:: NC_000004.12:g.4226644_4226645del, NC_000004.11:g.4228371_4228372del, NM_177998.3:c.220_221del, NM_177998.2:c.220_221del, NM_177998.1:c.220_221del, NP_819056.1:p.Leu74fs

Select item 14913993747.

rs1491399374 has merged into rs71169624 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATACACATATACATGTATATATGTATACATATATATATA,TATATACACATATACATGTATATATGTATACATATGTGTATACATATATATATA,TATATATA [Show Flanks]
Chromosome:: 4:4219842 (GRCh38)
4:4221569 (GRCh37)
Canonical SPDI:: NC_000004.12:4219836:ATATATATA:ATATA,NC_000004.12:4219836:ATATATATA:ATATATA,NC_000004.12:4219836:ATATATATA:ATATATATATA,NC_000004.12:4219836:ATATATATA:ATATATATATACACATATACATGTATATATGTATACATATATATATA,NC_000004.12:4219836:ATATATATA:ATATATATATACACATATACATGTATATATGTATACATATGTGTATACATATATATATA,NC_000004.12:4219836:ATATATATA:ATATATATATATA
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
AT=0.2613/474 (Korea1K)
-=0.325/13 (GENOME_DK)
AT=0.3403/1704 (1000Genomes)
HGVS:: NC_000004.12:g.4219838TA[2], NC_000004.12:g.4219838TA[3], NC_000004.12:g.4219838TA[5], NC_000004.12:g.4219837_4219845AT[5]AC[2]AT[2]ACATGTATATATGTATACATATATATATA[1], NC_000004.12:g.4219837_4219845AT[5]AC[2]AT[2]ACATGTATATATGTATACATATGTGTATACATATATATATA[1], NC_000004.12:g.4219838TA[6], NC_000004.11:g.4221565TA[2], NC_000004.11:g.4221565TA[3], NC_000004.11:g.4221565TA[5], NC_000004.11:g.4221564_4221572AT[5]AC[2]AT[2]ACATGTATATATGTATACATATATATATA[1], NC_000004.11:g.4221564_4221572AT[5]AC[2]AT[2]ACATGTATATATGTATACATATGTGTATACATATATATATA[1], NC_000004.11:g.4221565TA[6]

Select item 14913973338.

rs1491397333 has merged into rs151144007 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTCTGTGTGTGTGTGTGTGTGTGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 4:4199231 (GRCh38)
4:4200958 (GRCh37)
Canonical SPDI:: NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:4199220:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
-=0.27895/1397 (1000Genomes)
HGVS:: NC_000004.12:g.4199221TG[5], NC_000004.12:g.4199221TG[6], NC_000004.12:g.4199221_4199234TG[7]TCTGTGTGTGTGTGTGTGTGTGTG[1], NC_000004.12:g.4199221TG[8], NC_000004.12:g.4199221TG[9], NC_000004.12:g.4199221TG[10], NC_000004.12:g.4199221TG[11], NC_000004.12:g.4199221TG[12], NC_000004.12:g.4199221TG[13], NC_000004.12:g.4199221TG[14], NC_000004.12:g.4199221TG[15], NC_000004.12:g.4199221TG[16], NC_000004.12:g.4199221TG[17], NC_000004.12:g.4199221TG[18], NC_000004.12:g.4199221TG[19], NC_000004.12:g.4199221TG[20], NC_000004.12:g.4199221TG[22], NC_000004.11:g.4200948TG[5], NC_000004.11:g.4200948TG[6], NC_000004.11:g.4200948_4200961TG[7]TCTGTGTGTGTGTGTGTGTGTGTG[1], NC_000004.11:g.4200948TG[8], NC_000004.11:g.4200948TG[9], NC_000004.11:g.4200948TG[10], NC_000004.11:g.4200948TG[11], NC_000004.11:g.4200948TG[12], NC_000004.11:g.4200948TG[13], NC_000004.11:g.4200948TG[14], NC_000004.11:g.4200948TG[15], NC_000004.11:g.4200948TG[16], NC_000004.11:g.4200948TG[17], NC_000004.11:g.4200948TG[18], NC_000004.11:g.4200948TG[19], NC_000004.11:g.4200948TG[20], NC_000004.11:g.4200948TG[22]

Select item 14912729629.

rs1491272962 has merged into rs1183792130 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:4220115 (GRCh38)
4:4221842 (GRCh37)
Canonical SPDI:: NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:4220105:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.4220115_4220119del, NC_000004.12:g.4220116_4220119del, NC_000004.12:g.4220117_4220119del, NC_000004.12:g.4220118_4220119del, NC_000004.12:g.4220119del, NC_000004.12:g.4220119dup, NC_000004.12:g.4220118_4220119dup, NC_000004.12:g.4220117_4220119dup, NC_000004.12:g.4220116_4220119dup, NC_000004.12:g.4220115_4220119dup, NC_000004.12:g.4220114_4220119dup, NC_000004.12:g.4220113_4220119dup, NC_000004.11:g.4221842_4221846del, NC_000004.11:g.4221843_4221846del, NC_000004.11:g.4221844_4221846del, NC_000004.11:g.4221845_4221846del, NC_000004.11:g.4221846del, NC_000004.11:g.4221846dup, NC_000004.11:g.4221845_4221846dup, NC_000004.11:g.4221844_4221846dup, NC_000004.11:g.4221843_4221846dup, NC_000004.11:g.4221842_4221846dup, NC_000004.11:g.4221841_4221846dup, NC_000004.11:g.4221840_4221846dup

Select item 149122199210.

rs1491221992 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 4:4218392 (GRCh38)
4:4220120 (GRCh37)
Canonical SPDI:: NC_000004.12:4218392:A:AGA
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.4218393_4218394insGA, NC_000004.11:g.4220120_4220121insGA

Select item 149121227711.

rs1491212277 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA [Show Flanks]
Chromosome:: 4:4220106 (GRCh38)
4:4221834 (GRCh37)
Canonical SPDI:: NC_000004.12:4220106::A,NC_000004.12:4220106::ATA,NC_000004.12:4220106::ATATA
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00071/12 (TOMMO)
ATA=0.00413/2 (NorthernSweden)
HGVS:: NC_000004.12:g.4220106_4220107insA, NC_000004.12:g.4220106_4220107insATA, NC_000004.12:g.4220106_4220107insATATA, NC_000004.11:g.4221833_4221834insA, NC_000004.11:g.4221833_4221834insATA, NC_000004.11:g.4221833_4221834insATATA

Select item 149110635912.

rs1491106359 has merged into rs71600542 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 4:4199257 (GRCh38)
4:4200984 (GRCh37)
Canonical SPDI:: NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:4199233:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGAGAGAGAGAG=0./0 (ALFA)
HGVS:: NC_000004.12:g.4199235AG[11], NC_000004.12:g.4199235AG[12], NC_000004.12:g.4199235AG[13], NC_000004.12:g.4199235AG[14], NC_000004.12:g.4199235AG[15], NC_000004.12:g.4199235AG[16], NC_000004.12:g.4199235AG[17], NC_000004.12:g.4199235AG[18], NC_000004.12:g.4199235AG[19], NC_000004.12:g.4199235AG[20], NC_000004.12:g.4199235AG[22], NC_000004.12:g.4199235AG[23], NC_000004.12:g.4199235AG[24], NC_000004.12:g.4199235AG[25], NC_000004.12:g.4199235AG[26], NC_000004.12:g.4199235AG[27], NC_000004.12:g.4199235AG[28], NC_000004.12:g.4199235AG[29], NC_000004.12:g.4199235AG[30], NC_000004.11:g.4200962AG[11], NC_000004.11:g.4200962AG[12], NC_000004.11:g.4200962AG[13], NC_000004.11:g.4200962AG[14], NC_000004.11:g.4200962AG[15], NC_000004.11:g.4200962AG[16], NC_000004.11:g.4200962AG[17], NC_000004.11:g.4200962AG[18], NC_000004.11:g.4200962AG[19], NC_000004.11:g.4200962AG[20], NC_000004.11:g.4200962AG[22], NC_000004.11:g.4200962AG[23], NC_000004.11:g.4200962AG[24], NC_000004.11:g.4200962AG[25], NC_000004.11:g.4200962AG[26], NC_000004.11:g.4200962AG[27], NC_000004.11:g.4200962AG[28], NC_000004.11:g.4200962AG[29], NC_000004.11:g.4200962AG[30]

Select item 149108993513.

rs1491089935 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGAGA [Show Flanks]
Chromosome:: 4:4223578 (GRCh38)
4:4225306 (GRCh37)
Canonical SPDI:: NC_000004.12:4223578:A:AAGGAGA
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.4223579_4223580insAGGAGA, NC_000004.11:g.4225306_4225307insAGGAGA

Select item 149101992014.

rs1491019920 has merged into rs55863617 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:4200736 (GRCh38)
4:4202463 (GRCh37)
Canonical SPDI:: NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4200723:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2804/1404 (1000Genomes)
HGVS:: NC_000004.12:g.4200736_4200739del, NC_000004.12:g.4200738_4200739del, NC_000004.12:g.4200739del, NC_000004.12:g.4200739dup, NC_000004.12:g.4200738_4200739dup, NC_000004.12:g.4200737_4200739dup, NC_000004.12:g.4200736_4200739dup, NC_000004.12:g.4200735_4200739dup, NC_000004.12:g.4200734_4200739dup, NC_000004.12:g.4200733_4200739dup, NC_000004.12:g.4200732_4200739dup, NC_000004.11:g.4202463_4202466del, NC_000004.11:g.4202465_4202466del, NC_000004.11:g.4202466del, NC_000004.11:g.4202466dup, NC_000004.11:g.4202465_4202466dup, NC_000004.11:g.4202464_4202466dup, NC_000004.11:g.4202463_4202466dup, NC_000004.11:g.4202462_4202466dup, NC_000004.11:g.4202461_4202466dup, NC_000004.11:g.4202460_4202466dup, NC_000004.11:g.4202459_4202466dup

Select item 149098011115.

rs1490980111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:4218062 (GRCh38)
4:4219790 (GRCh37)
Canonical SPDI:: NC_000004.12:4218062:TTTT:TTTTT
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.4218066dup, NC_000004.11:g.4219793dup

Select item 149097190216.

rs1490971902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:4191232 (GRCh38)
4:4192959 (GRCh37)
Canonical SPDI:: NC_000004.12:4191231:A:T
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.4191232A>T, NC_000004.11:g.4192959A>T

Select item 149090049217.

rs1490900492 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAATTAGCGGGTGTGGTGGTACA>- [Show Flanks]
Chromosome:: 4:4215510 (GRCh38)
4:4217237 (GRCh37)
Canonical SPDI:: NC_000004.12:4215505:TACAAAATTAGCGGGTGTGGTGGTACA:TACA
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.4215510_4215532del, NC_000004.11:g.4217237_4217259del

Select item 149089611218.

rs1490896112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:4220295 (GRCh38)
4:4222022 (GRCh37)
Canonical SPDI:: NC_000004.12:4220294:G:C
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.4220295G>C, NC_000004.11:g.4222022G>C

Select item 149089338219.

rs1490893382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:4225907 (GRCh38)
4:4227634 (GRCh37)
Canonical SPDI:: NC_000004.12:4225906:G:A
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.4225907G>A, NC_000004.11:g.4227634G>A

Select item 149084684620.

rs1490846846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:4201168 (GRCh38)
4:4202895 (GRCh37)
Canonical SPDI:: NC_000004.12:4201167:C:A,NC_000004.12:4201167:C:T
Gene:: OTOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.4201168C>A, NC_000004.12:g.4201168C>T, NC_000004.11:g.4202895C>A, NC_000004.11:g.4202895C>T

<< First< Prev

Page of 516

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 10303

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity