SNP Links for Nucleotide (Select 354623082) - SNP

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Select item 14915423231.

rs1491542323 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:8906509 (GRCh38)
11:8928056 (GRCh37)
Canonical SPDI:: NC_000011.10:8906508:CA:
Gene:: DENND2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00607/72 (ALFA)
-=0.00209/59 (TOMMO)
HGVS:: NC_000011.10:g.8906509_8906510del, NC_000011.9:g.8928056_8928057del, NG_029450.1:g.9442_9443del, NG_030417.1:g.356_357del

Select item 14915278202.

rs1491527820 has merged into rs34773959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 11:8906525 (GRCh38)
11:8928072 (GRCh37)
Canonical SPDI:: NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8906509:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DENND2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.8906525_8906528del, NC_000011.10:g.8906526_8906528del, NC_000011.10:g.8906527_8906528del, NC_000011.10:g.8906528del, NC_000011.10:g.8906528dup, NC_000011.10:g.8906527_8906528dup, NC_000011.10:g.8906525_8906528dup, NC_000011.10:g.8906524_8906528dup, NC_000011.9:g.8928072_8928075del, NC_000011.9:g.8928073_8928075del, NC_000011.9:g.8928074_8928075del, NC_000011.9:g.8928075del, NC_000011.9:g.8928075dup, NC_000011.9:g.8928074_8928075dup, NC_000011.9:g.8928072_8928075dup, NC_000011.9:g.8928071_8928075dup, NG_029450.1:g.9439_9442del, NG_029450.1:g.9440_9442del, NG_029450.1:g.9441_9442del, NG_029450.1:g.9442del, NG_029450.1:g.9442dup, NG_029450.1:g.9441_9442dup, NG_029450.1:g.9439_9442dup, NG_029450.1:g.9438_9442dup, NG_030417.1:g.372_375del, NG_030417.1:g.373_375del, NG_030417.1:g.374_375del, NG_030417.1:g.375del, NG_030417.1:g.375dup, NG_030417.1:g.374_375dup, NG_030417.1:g.372_375dup, NG_030417.1:g.371_375dup

Select item 14914884573.

rs1491488457 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:8912198 (GRCh38)
11:8933745 (GRCh37)
Canonical SPDI:: NC_000011.10:8912197:CA:
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.08279/982 (ALFA)
-=0.01098/310 (TOMMO)
-=0.0125/262 (GnomAD)
HGVS:: NC_000011.10:g.8912198_8912199del, NC_000011.9:g.8933745_8933746del, NG_029450.1:g.3753_3754del, NG_030417.1:g.6045_6046del

Select item 14913057654.

rs1491305765 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACCCCC [Show Flanks]
Chromosome:: 11:8910945 (GRCh38)
11:8932493 (GRCh37)
Canonical SPDI:: NC_000011.10:8910945:ACCCCC:ACCCCCAACCCCC
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACCCCCAACCCCC=0./0 (ALFA)
ACCCCCA=0.00196/13 (GnomAD)
HGVS:: NC_000011.10:g.8910951_8910952insAACCCCC, NC_000011.9:g.8932498_8932499insAACCCCC, NG_029450.1:g.5001_5006G[5]TTGGGGGT[1], NM_005418.4:c.-386_-381G[5]TTGGGGGT[1], NM_005418.3:c.-386_-381G[5]TTGGGGGT[1], NG_030417.1:g.4798_4799insAACCCCC

Select item 14912741755.

rs1491274175 has merged into rs146108642 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:8915351 (GRCh38)
11:8936898 (GRCh37)
Canonical SPDI:: NC_000011.10:8915347:TTTTTTTTTT:TTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915347:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.47319/5613 (ALFA)
T=0.00379/19 (1000Genomes)
HGVS:: NC_000011.10:g.8915351_8915357del, NC_000011.10:g.8915356_8915357del, NC_000011.10:g.8915357del, NC_000011.10:g.8915357dup, NC_000011.10:g.8915356_8915357dup, NC_000011.10:g.8915355_8915357dup, NC_000011.10:g.8915353_8915357dup, NC_000011.10:g.8915350_8915357dup, NC_000011.10:g.8915357_8915358insTTTTTTTTTTTTTT, NC_000011.10:g.8915357_8915358insTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.8915357_8915358insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.8936898_8936904del, NC_000011.9:g.8936903_8936904del, NC_000011.9:g.8936904del, NC_000011.9:g.8936904dup, NC_000011.9:g.8936903_8936904dup, NC_000011.9:g.8936902_8936904dup, NC_000011.9:g.8936900_8936904dup, NC_000011.9:g.8936897_8936904dup, NC_000011.9:g.8936904_8936905insTTTTTTTTTTTTTT, NC_000011.9:g.8936904_8936905insTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.8936904_8936905insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029450.1:g.598_604del, NG_029450.1:g.603_604del, NG_029450.1:g.604del, NG_029450.1:g.604dup, NG_029450.1:g.603_604dup, NG_029450.1:g.602_604dup, NG_029450.1:g.600_604dup, NG_029450.1:g.597_604dup, NG_029450.1:g.604_605insAAAAAAAAAAAAAA, NG_029450.1:g.604_605insAAAAAAAAAAAAAAAAAAAA, NG_029450.1:g.604_605insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030417.1:g.9198_9204del, NG_030417.1:g.9203_9204del, NG_030417.1:g.9204del, NG_030417.1:g.9204dup, NG_030417.1:g.9203_9204dup, NG_030417.1:g.9202_9204dup, NG_030417.1:g.9200_9204dup, NG_030417.1:g.9197_9204dup, NG_030417.1:g.9204_9205insTTTTTTTTTTTTTT, NG_030417.1:g.9204_9205insTTTTTTTTTTTTTTTTTTTT, NG_030417.1:g.9204_9205insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912119436.

rs1491211943 has merged into rs57540447 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:8912211 (GRCh38)
11:8933758 (GRCh37)
Canonical SPDI:: NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8912198:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2027/1015 (1000Genomes)
HGVS:: NC_000011.10:g.8912211_8912220del, NC_000011.10:g.8912212_8912220del, NC_000011.10:g.8912213_8912220del, NC_000011.10:g.8912215_8912220del, NC_000011.10:g.8912216_8912220del, NC_000011.10:g.8912217_8912220del, NC_000011.10:g.8912218_8912220del, NC_000011.10:g.8912219_8912220del, NC_000011.10:g.8912220del, NC_000011.10:g.8912220dup, NC_000011.10:g.8912219_8912220dup, NC_000011.10:g.8912218_8912220dup, NC_000011.9:g.8933758_8933767del, NC_000011.9:g.8933759_8933767del, NC_000011.9:g.8933760_8933767del, NC_000011.9:g.8933762_8933767del, NC_000011.9:g.8933763_8933767del, NC_000011.9:g.8933764_8933767del, NC_000011.9:g.8933765_8933767del, NC_000011.9:g.8933766_8933767del, NC_000011.9:g.8933767del, NC_000011.9:g.8933767dup, NC_000011.9:g.8933766_8933767dup, NC_000011.9:g.8933765_8933767dup, NG_029450.1:g.3744_3753del, NG_029450.1:g.3745_3753del, NG_029450.1:g.3746_3753del, NG_029450.1:g.3748_3753del, NG_029450.1:g.3749_3753del, NG_029450.1:g.3750_3753del, NG_029450.1:g.3751_3753del, NG_029450.1:g.3752_3753del, NG_029450.1:g.3753del, NG_029450.1:g.3753dup, NG_029450.1:g.3752_3753dup, NG_029450.1:g.3751_3753dup, NG_030417.1:g.6058_6067del, NG_030417.1:g.6059_6067del, NG_030417.1:g.6060_6067del, NG_030417.1:g.6062_6067del, NG_030417.1:g.6063_6067del, NG_030417.1:g.6064_6067del, NG_030417.1:g.6065_6067del, NG_030417.1:g.6066_6067del, NG_030417.1:g.6067del, NG_030417.1:g.6067dup, NG_030417.1:g.6066_6067dup, NG_030417.1:g.6065_6067dup

Select item 14911985427.

rs1491198542 has merged into rs1258666817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:8915831 (GRCh38)
11:8937378 (GRCh37)
Canonical SPDI:: NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8915819:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8915831_8915838del, NC_000011.10:g.8915833_8915838del, NC_000011.10:g.8915834_8915838del, NC_000011.10:g.8915835_8915838del, NC_000011.10:g.8915836_8915838del, NC_000011.10:g.8915837_8915838del, NC_000011.10:g.8915838del, NC_000011.10:g.8915838dup, NC_000011.10:g.8915837_8915838dup, NC_000011.10:g.8915836_8915838dup, NC_000011.10:g.8915835_8915838dup, NC_000011.10:g.8915834_8915838dup, NC_000011.10:g.8915833_8915838dup, NC_000011.10:g.8915832_8915838dup, NC_000011.10:g.8915829_8915838dup, NC_000011.10:g.8915827_8915838dup, NC_000011.9:g.8937378_8937385del, NC_000011.9:g.8937380_8937385del, NC_000011.9:g.8937381_8937385del, NC_000011.9:g.8937382_8937385del, NC_000011.9:g.8937383_8937385del, NC_000011.9:g.8937384_8937385del, NC_000011.9:g.8937385del, NC_000011.9:g.8937385dup, NC_000011.9:g.8937384_8937385dup, NC_000011.9:g.8937383_8937385dup, NC_000011.9:g.8937382_8937385dup, NC_000011.9:g.8937381_8937385dup, NC_000011.9:g.8937380_8937385dup, NC_000011.9:g.8937379_8937385dup, NC_000011.9:g.8937376_8937385dup, NC_000011.9:g.8937374_8937385dup, NG_029450.1:g.125_132del, NG_029450.1:g.127_132del, NG_029450.1:g.128_132del, NG_029450.1:g.129_132del, NG_029450.1:g.130_132del, NG_029450.1:g.131_132del, NG_029450.1:g.132del, NG_029450.1:g.132dup, NG_029450.1:g.131_132dup, NG_029450.1:g.130_132dup, NG_029450.1:g.129_132dup, NG_029450.1:g.128_132dup, NG_029450.1:g.127_132dup, NG_029450.1:g.126_132dup, NG_029450.1:g.123_132dup, NG_029450.1:g.121_132dup, NG_030417.1:g.9678_9685del, NG_030417.1:g.9680_9685del, NG_030417.1:g.9681_9685del, NG_030417.1:g.9682_9685del, NG_030417.1:g.9683_9685del, NG_030417.1:g.9684_9685del, NG_030417.1:g.9685del, NG_030417.1:g.9685dup, NG_030417.1:g.9684_9685dup, NG_030417.1:g.9683_9685dup, NG_030417.1:g.9682_9685dup, NG_030417.1:g.9681_9685dup, NG_030417.1:g.9680_9685dup, NG_030417.1:g.9679_9685dup, NG_030417.1:g.9676_9685dup, NG_030417.1:g.9674_9685dup

Select item 14911955828.

rs1491195582 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:8910945 (GRCh38)
11:8932492 (GRCh37)
Canonical SPDI:: NC_000011.10:8910944:GA:
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00028/3 (TOMMO)
HGVS:: NC_000011.10:g.8910945_8910946del, NC_000011.9:g.8932492_8932493del, NG_029450.1:g.5006_5007del, NM_005418.4:c.-381_-380del, NM_005418.3:c.-381_-380del, NG_030417.1:g.4792_4793del

Select item 14910717899.

rs1491071789 has merged into rs71059196 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:8912886 (GRCh38)
11:8934433 (GRCh37)
Canonical SPDI:: NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:8912871:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.8912886_8912892del, NC_000011.10:g.8912887_8912892del, NC_000011.10:g.8912888_8912892del, NC_000011.10:g.8912889_8912892del, NC_000011.10:g.8912890_8912892del, NC_000011.10:g.8912891_8912892del, NC_000011.10:g.8912892del, NC_000011.10:g.8912892dup, NC_000011.10:g.8912891_8912892dup, NC_000011.10:g.8912890_8912892dup, NC_000011.10:g.8912889_8912892dup, NC_000011.10:g.8912888_8912892dup, NC_000011.10:g.8912887_8912892dup, NC_000011.10:g.8912886_8912892dup, NC_000011.10:g.8912885_8912892dup, NC_000011.10:g.8912884_8912892dup, NC_000011.10:g.8912883_8912892dup, NC_000011.10:g.8912882_8912892dup, NC_000011.10:g.8912881_8912892dup, NC_000011.10:g.8912880_8912892dup, NC_000011.10:g.8912879_8912892dup, NC_000011.10:g.8912878_8912892dup, NC_000011.10:g.8912877_8912892dup, NC_000011.10:g.8912876_8912892dup, NC_000011.10:g.8912872_8912892T[42]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.8912892_8912893insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.8912892_8912893insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.8912892_8912893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.8912892_8912893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.8912892_8912893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.8934433_8934439del, NC_000011.9:g.8934434_8934439del, NC_000011.9:g.8934435_8934439del, NC_000011.9:g.8934436_8934439del, NC_000011.9:g.8934437_8934439del, NC_000011.9:g.8934438_8934439del, NC_000011.9:g.8934439del, NC_000011.9:g.8934439dup, NC_000011.9:g.8934438_8934439dup, NC_000011.9:g.8934437_8934439dup, NC_000011.9:g.8934436_8934439dup, NC_000011.9:g.8934435_8934439dup, NC_000011.9:g.8934434_8934439dup, NC_000011.9:g.8934433_8934439dup, NC_000011.9:g.8934432_8934439dup, NC_000011.9:g.8934431_8934439dup, NC_000011.9:g.8934430_8934439dup, NC_000011.9:g.8934429_8934439dup, NC_000011.9:g.8934428_8934439dup, NC_000011.9:g.8934427_8934439dup, NC_000011.9:g.8934426_8934439dup, NC_000011.9:g.8934425_8934439dup, NC_000011.9:g.8934424_8934439dup, NC_000011.9:g.8934423_8934439dup, NC_000011.9:g.8934419_8934439T[42]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.8934439_8934440insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.8934439_8934440insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.8934439_8934440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.8934439_8934440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.8934439_8934440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029450.1:g.3074_3080del, NG_029450.1:g.3075_3080del, NG_029450.1:g.3076_3080del, NG_029450.1:g.3077_3080del, NG_029450.1:g.3078_3080del, NG_029450.1:g.3079_3080del, NG_029450.1:g.3080del, NG_029450.1:g.3080dup, NG_029450.1:g.3079_3080dup, NG_029450.1:g.3078_3080dup, NG_029450.1:g.3077_3080dup, NG_029450.1:g.3076_3080dup, NG_029450.1:g.3075_3080dup, NG_029450.1:g.3074_3080dup, NG_029450.1:g.3073_3080dup, NG_029450.1:g.3072_3080dup, NG_029450.1:g.3071_3080dup, NG_029450.1:g.3070_3080dup, NG_029450.1:g.3069_3080dup, NG_029450.1:g.3068_3080dup, NG_029450.1:g.3067_3080dup, NG_029450.1:g.3066_3080dup, NG_029450.1:g.3065_3080dup, NG_029450.1:g.3064_3080dup, NG_029450.1:g.3060_3080A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029450.1:g.3080_3081insAAAAAAAAAAAAAAAAAAAAAAA, NG_029450.1:g.3080_3081insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029450.1:g.3080_3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029450.1:g.3080_3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029450.1:g.3080_3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030417.1:g.6733_6739del, NG_030417.1:g.6734_6739del, NG_030417.1:g.6735_6739del, NG_030417.1:g.6736_6739del, NG_030417.1:g.6737_6739del, NG_030417.1:g.6738_6739del, NG_030417.1:g.6739del, NG_030417.1:g.6739dup, NG_030417.1:g.6738_6739dup, NG_030417.1:g.6737_6739dup, NG_030417.1:g.6736_6739dup, NG_030417.1:g.6735_6739dup, NG_030417.1:g.6734_6739dup, NG_030417.1:g.6733_6739dup, NG_030417.1:g.6732_6739dup, NG_030417.1:g.6731_6739dup, NG_030417.1:g.6730_6739dup, NG_030417.1:g.6729_6739dup, NG_030417.1:g.6728_6739dup, NG_030417.1:g.6727_6739dup, NG_030417.1:g.6726_6739dup, NG_030417.1:g.6725_6739dup, NG_030417.1:g.6724_6739dup, NG_030417.1:g.6723_6739dup, NG_030417.1:g.6719_6739T[42]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_030417.1:g.6739_6740insTTTTTTTTTTTTTTTTTTTTTTT, NG_030417.1:g.6739_6740insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030417.1:g.6739_6740insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030417.1:g.6739_6740insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030417.1:g.6739_6740insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149096776110.

rs1490967761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:8919523 (GRCh38)
11:8941070 (GRCh37)
Canonical SPDI:: NC_000011.10:8919522:A:G
Gene:: AKIP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8919523A>G, NC_000011.9:g.8941070A>G, NG_030417.1:g.13370A>G, NM_020642.4:c.*43A>G, NM_020642.3:c.*43A>G, NR_045417.2:n.937A>G, NR_045417.1:n.934A>G, NR_045418.2:n.856A>G, NR_045418.1:n.853A>G, NM_001206647.2:c.*43A>G, NM_001206647.1:c.*43A>G, NM_001206646.2:c.*43A>G, NM_001206646.1:c.*43A>G, NM_001206648.2:c.*43A>G, NM_001206648.1:c.*43A>G, NM_182901.3:c.*43A>G, NM_182901.2:c.*43A>G, XM_017018011.2:c.*43A>G, XM_017018011.1:c.*43A>G, NM_001206645.1:c.*43A>G, XM_047427261.1:c.*43A>G, NM_182901.1:c.*43A>G

Select item 149085519811.

rs1490855198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:8910635 (GRCh38)
11:8932182 (GRCh37)
Canonical SPDI:: NC_000011.10:8910634:G:T
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.8910635G>T, NC_000011.9:g.8932182G>T, NG_029450.1:g.5317C>A, NG_030417.1:g.4482G>T

Select item 149062977612.

rs1490629776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:8913211 (GRCh38)
11:8934758 (GRCh37)
Canonical SPDI:: NC_000011.10:8913210:C:A
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8913211C>A, NC_000011.9:g.8934758C>A, NG_029450.1:g.2741G>T, NG_030417.1:g.7058C>A

Select item 149057996313.

rs1490579963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:8912614 (GRCh38)
11:8934161 (GRCh37)
Canonical SPDI:: NC_000011.10:8912613:C:G
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_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_000011.10:g.8912614C>G, NC_000011.9:g.8934161C>G, NG_029450.1:g.3338G>C, NG_030417.1:g.6461C>G

Select item 149044558414.

rs1490445584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:8917445 (GRCh38)
11:8938992 (GRCh37)
Canonical SPDI:: NC_000011.10:8917444:G:A
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.8917445G>A, NC_000011.9:g.8938992G>A, NG_030417.1:g.11292G>A

Select item 149003290915.

rs1490032909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:8920654 (GRCh38)
11:8942201 (GRCh37)
Canonical SPDI:: NC_000011.10:8920653:C:G
Gene:: C11orf16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.8920654C>G, NC_000011.9:g.8942201C>G, NG_030417.1:g.14501C>G

Select item 148991344016.

rs1489913440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8915997 (GRCh38)
11:8937544 (GRCh37)
Canonical SPDI:: NC_000011.10:8915996:T:C
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_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_000011.10:g.8915997T>C, NC_000011.9:g.8937544T>C, NG_030417.1:g.9844T>C

Select item 148973580317.

rs1489735803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:8911287 (GRCh38)
11:8932834 (GRCh37)
Canonical SPDI:: NC_000011.10:8911286:C:A
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8911287C>A, NC_000011.9:g.8932834C>A, NG_029450.1:g.4665G>T, NG_030417.1:g.5134C>A, NR_045417.2:n.99C>A, NR_045417.1:n.96C>A, NR_045418.2:n.99C>A, NR_045418.1:n.96C>A, NM_182901.3:c.-163C>A, NM_182901.2:c.-163C>A, NM_001206645.1:c.-163C>A, NM_182901.1:c.-163C>A

Select item 148972647918.

rs1489726479 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAA>- [Show Flanks]
Chromosome:: 11:8912198 (GRCh38)
11:8933745 (GRCh37)
Canonical SPDI:: NC_000011.10:8912197:CAAA:
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.8912198_8912201del, NC_000011.9:g.8933745_8933748del, NG_029450.1:g.3751_3754del, NG_030417.1:g.6045_6048del

Select item 148961409219.

rs1489614092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:8909163 (GRCh38)
11:8930710 (GRCh37)
Canonical SPDI:: NC_000011.10:8909162:G:A
Gene:: DENND2B (Varview)
Functional Consequence:: genic_upstream_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_000011.10:g.8909163G>A, NC_000011.9:g.8930710G>A, NG_029450.1:g.6789C>T, NG_030417.1:g.3010G>A

Select item 148933021920.

rs1489330219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8914770 (GRCh38)
11:8936317 (GRCh37)
Canonical SPDI:: NC_000011.10:8914769:T:C
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.8914770T>C, NC_000011.9:g.8936317T>C, NG_029450.1:g.1182A>G, NG_030417.1:g.8617T>C

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