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Select item 14915125411.

rs1491512541 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: X:150001216 (GRCh38)
X:149169447 (GRCh37)
Canonical SPDI:: NC_000023.11:150001215:TT:
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.150001216_150001217del, NW_004070890.2:g.5525614_5525615del, NC_000023.10:g.149169447_149169448del

Select item 14914236572.

rs1491423657 has merged into rs11332741 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:149959733 (GRCh38)
X:149127951 (GRCh37)
Canonical SPDI:: NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:149959724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000053/14 (TOPMED)
AA=0.022923/85 (TWINSUK)
AA=0.028037/81 (ALSPAC)
HGVS:: NC_000023.11:g.149959733_149959744del, NC_000023.11:g.149959737_149959744del, NC_000023.11:g.149959738_149959744del, NC_000023.11:g.149959739_149959744del, NC_000023.11:g.149959740_149959744del, NC_000023.11:g.149959741_149959744del, NC_000023.11:g.149959742_149959744del, NC_000023.11:g.149959743_149959744del, NC_000023.11:g.149959744del, NC_000023.11:g.149959744dup, NC_000023.11:g.149959743_149959744dup, NC_000023.11:g.149959740_149959744dup, NC_000023.11:g.149959738_149959744dup, NC_000023.11:g.149959737_149959744dup, NC_000023.11:g.149959732_149959744dup, NW_004070890.2:g.5484131_5484142del, NW_004070890.2:g.5484135_5484142del, NW_004070890.2:g.5484136_5484142del, NW_004070890.2:g.5484137_5484142del, NW_004070890.2:g.5484138_5484142del, NW_004070890.2:g.5484139_5484142del, NW_004070890.2:g.5484140_5484142del, NW_004070890.2:g.5484141_5484142del, NW_004070890.2:g.5484142del, NW_004070890.2:g.5484142dup, NW_004070890.2:g.5484141_5484142dup, NW_004070890.2:g.5484138_5484142dup, NW_004070890.2:g.5484136_5484142dup, NW_004070890.2:g.5484135_5484142dup, NW_004070890.2:g.5484130_5484142dup, NC_000023.10:g.149127952_149127963del, NC_000023.10:g.149127956_149127963del, NC_000023.10:g.149127957_149127963del, NC_000023.10:g.149127958_149127963del, NC_000023.10:g.149127959_149127963del, NC_000023.10:g.149127960_149127963del, NC_000023.10:g.149127961_149127963del, NC_000023.10:g.149127962_149127963del, NC_000023.10:g.149127963del, NC_000023.10:g.149127963dup, NC_000023.10:g.149127962_149127963dup, NC_000023.10:g.149127959_149127963dup, NC_000023.10:g.149127957_149127963dup, NC_000023.10:g.149127956_149127963dup, NC_000023.10:g.149127951_149127963dup

Select item 14913744433.

rs1491374443 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: X:150001091 (GRCh38)
X:149169322 (GRCh37)
Canonical SPDI:: NC_000023.11:150001090:AA:
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00014/6 (GnomAD)
HGVS:: NC_000023.11:g.150001091_150001092del, NW_004070890.2:g.5525489_5525490del, NC_000023.10:g.149169322_149169323del

Select item 14913446884.

rs1491344688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: X:150000705 (GRCh38)
X:149168937 (GRCh37)
Canonical SPDI:: NC_000023.11:150000705:TAT:TATTAT
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATTAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.150000706_150000708dup, NW_004070890.2:g.5525104_5525106dup, NC_000023.10:g.149168937_149168939dup

Select item 14913125835.

rs1491312583 has merged into rs1340182039 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: X:150000710 (GRCh38)
X:149168941 (GRCh37)
Canonical SPDI:: NC_000023.11:150000704:ATATATATA:ATATA,NC_000023.11:150000704:ATATATATA:ATATATA,NC_000023.11:150000704:ATATATATA:ATATATATATA
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
-=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.150000706TA[2], NC_000023.11:g.150000706TA[3], NC_000023.11:g.150000706TA[5], NW_004070890.2:g.5525104TA[2], NW_004070890.2:g.5525104TA[3], NW_004070890.2:g.5525104TA[5], NC_000023.10:g.149168937TA[2], NC_000023.10:g.149168937TA[3], NC_000023.10:g.149168937TA[5]

Select item 14912945426.

rs1491294542 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT,TAACAT,TAATT [Show Flanks]
Chromosome:: X:150001091 (GRCh38)
X:149169323 (GRCh37)
Canonical SPDI:: NC_000023.11:150001091::GT,NC_000023.11:150001091::TAACAT,NC_000023.11:150001091::TAATT
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAACAT=0./0 (ALFA)
TAATT=0.00015/1 (GnomAD)
HGVS:: NC_000023.11:g.150001091_150001092insGT, NC_000023.11:g.150001091_150001092insTAACAT, NC_000023.11:g.150001091_150001092insTAATT, NW_004070890.2:g.5525489_5525490insGT, NW_004070890.2:g.5525489_5525490insTAACAT, NW_004070890.2:g.5525489_5525490insTAATT, NC_000023.10:g.149169322_149169323insGT, NC_000023.10:g.149169322_149169323insTAACAT, NC_000023.10:g.149169322_149169323insTAATT

Select item 14912754277.

rs1491275427 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: X:150000957 (GRCh38)
X:149169188 (GRCh37)
Canonical SPDI:: NC_000023.11:150000949:ATATATATA:ATATATA
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0.00042/5 (ALFA)
-=0.00261/57 (GnomAD)
HGVS:: NC_000023.11:g.150000951TA[3], NW_004070890.2:g.5525349TA[3], NC_000023.10:g.149169182TA[3]

Select item 14912505708.

rs1491250570 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:149939574 (GRCh38)
X:149107792 (GRCh37)
Canonical SPDI:: NC_000023.11:149939573:AG:
Gene:: EOLA2 (Varview), EOLA2-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00018/2 (TOMMO)
-=0.00037/10 (GnomAD)
HGVS:: NC_000023.11:g.149939574_149939575del, NW_004070890.2:g.5463972_5463973del, NC_000023.10:g.149107792_149107793del

Select item 14911753929.

rs1491175392 has merged into rs1306206067 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: X:149939580 (GRCh38)
X:149107798 (GRCh37)
Canonical SPDI:: NC_000023.11:149939574:GGGGGGGG:GGGGG,NC_000023.11:149939574:GGGGGGGG:GGGGGGG,NC_000023.11:149939574:GGGGGGGG:GGGGGGGGG,NC_000023.11:149939574:GGGGGGGG:GGGGGGGGGG
Gene:: EOLA2 (Varview), EOLA2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.00044/5 (TOMMO)
HGVS:: NC_000023.11:g.149939580_149939582del, NC_000023.11:g.149939582del, NC_000023.11:g.149939582dup, NC_000023.11:g.149939581_149939582dup, NW_004070890.2:g.5463978_5463980del, NW_004070890.2:g.5463980del, NW_004070890.2:g.5463980dup, NW_004070890.2:g.5463979_5463980dup, NC_000023.10:g.149107798_149107800del, NC_000023.10:g.149107800del, NC_000023.10:g.149107800dup, NC_000023.10:g.149107799_149107800dup

Select item 149114002910.

rs1491140029 has merged into rs869249119 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:149959724 (GRCh38)
X:-1 (GRCh37)
Canonical SPDI:: NC_000023.11:149959723:CA:
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.149959724_149959725del, NW_004070890.2:g.5484122_5484123del

Select item 149110879911.

rs1491108799 has merged into rs1374783816 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATA>-,ATATATATAATATATATA [Show Flanks]
Chromosome:: X:150001239 (GRCh38)
X:149169470 (GRCh37)
Canonical SPDI:: NC_000023.11:150001216:TATAATATATATAATATATATAATATATATA:TATAATATATATAATATATATA,NC_000023.11:150001216:TATAATATATATAATATATATAATATATATA:TATAATATATATAATATATATAATATATATAATATATATA
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAATATATATAATATATATAATATATATAATATATATA=0./0 (ALFA)
TATAATATA=0.00525/58 (TOMMO)
HGVS:: NC_000023.11:g.150001221ATATATATA[2], NC_000023.11:g.150001221ATATATATA[4], NW_004070890.2:g.5525619ATATATATA[2], NW_004070890.2:g.5525619ATATATATA[4], NC_000023.10:g.149169452ATATATATA[2], NC_000023.10:g.149169452ATATATATA[4]

Select item 149095834612.

rs1490958346 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTACTTAAAAAATT>- [Show Flanks]
Chromosome:: X:149993727 (GRCh38)
X:149161958 (GRCh37)
Canonical SPDI:: NC_000023.11:149993725:TGTTACTTAAAAAATT:T
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.149993727_149993741del, NW_004070890.2:g.5518125_5518139del, NC_000023.10:g.149161958_149161972del

Select item 149086908013.

rs1490869080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:150001578 (GRCh38)
X:149169809 (GRCh37)
Canonical SPDI:: NC_000023.11:150001577:C:G
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150001578C>G, NW_004070890.2:g.5525976C>G, NC_000023.10:g.149169809C>G

Select item 149086435314.

rs1490864353 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:149941483 (GRCh38)
X:149109701 (GRCh37)
Canonical SPDI:: NC_000023.11:149941482:T:C
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.149941483T>C, NW_004070890.2:g.5465881T>C, NC_000023.10:g.149109701T>C

Select item 149085959515.

rs1490859595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:149942413 (GRCh38)
X:149110631 (GRCh37)
Canonical SPDI:: NC_000023.11:149942412:A:C
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149942413A>C, NW_004070890.2:g.5466811A>C, NC_000023.10:g.149110631A>C

Select item 149081882116.

rs1490818821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:150001162 (GRCh38)
X:149169393 (GRCh37)
Canonical SPDI:: NC_000023.11:150001161:A:G
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00042/5 (ALFA)
HGVS:: NC_000023.11:g.150001162A>G, NW_004070890.2:g.5525560A>G, NC_000023.10:g.149169393A>G

Select item 149079100517.

rs1490791005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:149959150 (GRCh38)
X:149127368 (GRCh37)
Canonical SPDI:: NC_000023.11:149959149:A:G
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.149959150A>G, NW_004070890.2:g.5483548A>G, NC_000023.10:g.149127368A>G

Select item 149077532418.

rs1490775324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:149960401 (GRCh38)
X:149128620 (GRCh37)
Canonical SPDI:: NC_000023.11:149960400:T:C
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.149960401T>C, NW_004070890.2:g.5484799T>C, NC_000023.10:g.149128620T>C

Select item 149063930419.

rs1490639304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:150012743 (GRCh38)
X:149180974 (GRCh37)
Canonical SPDI:: NC_000023.11:150012742:G:A
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150012743G>A, NW_004070890.2:g.5537141G>A, NC_000023.10:g.149180974G>A

Select item 149061361620.

rs1490613616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150011130 (GRCh38)
X:149179361 (GRCh37)
Canonical SPDI:: NC_000023.11:150011129:C:T
Gene:: EOLA2-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150011130C>T, NW_004070890.2:g.5535528C>T, NC_000023.10:g.149179361C>T

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