SNP Links for Gene (Select 100291105) - SNP

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Select item 14914815411.

rs1491481541 has merged into rs1491070747 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:57388443 (GRCh38)
20:55963499 (GRCh37)
Canonical SPDI:: NC_000020.11:57388441:ACA:A
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00024/1 (Estonian)
-=0.00032/19 (GnomAD)
HGVS:: NC_000020.11:g.57388443_57388444del, NC_000020.10:g.55963499_55963500del

Select item 14914079122.

rs1491407912 has merged into rs576249600 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 20:57389078 (GRCh38)
20:55964134 (GRCh37)
Canonical SPDI:: NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:57389065:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
-=0.4507/2257 (1000Genomes)
HGVS:: NC_000020.11:g.57389078_57389084del, NC_000020.11:g.57389079_57389084del, NC_000020.11:g.57389080_57389084del, NC_000020.11:g.57389081_57389084del, NC_000020.11:g.57389082_57389084del, NC_000020.11:g.57389083_57389084del, NC_000020.11:g.57389084del, NC_000020.11:g.57389084dup, NC_000020.11:g.57389083_57389084dup, NC_000020.11:g.57389082_57389084dup, NC_000020.11:g.57389081_57389084dup, NC_000020.10:g.55964134_55964140del, NC_000020.10:g.55964135_55964140del, NC_000020.10:g.55964136_55964140del, NC_000020.10:g.55964137_55964140del, NC_000020.10:g.55964138_55964140del, NC_000020.10:g.55964139_55964140del, NC_000020.10:g.55964140del, NC_000020.10:g.55964140dup, NC_000020.10:g.55964139_55964140dup, NC_000020.10:g.55964138_55964140dup, NC_000020.10:g.55964137_55964140dup

Select item 14913817313.

rs1491381731 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:57388737 (GRCh38)
20:55963794 (GRCh37)
Canonical SPDI:: NC_000020.11:57388737::A
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.57388737_57388738insA, NC_000020.10:g.55963793_55963794insA

Select item 14913175464.

rs1491317546 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:57389065 (GRCh38)
20:55964121 (GRCh37)
Canonical SPDI:: NC_000020.11:57389064:CA:
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00548/65 (ALFA)
-=0.00191/1 (NorthernSweden)
HGVS:: NC_000020.11:g.57389065_57389066del, NC_000020.10:g.55964121_55964122del

Select item 14910707475.

rs1491070747 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:57388443 (GRCh38)
20:55963499 (GRCh37)
Canonical SPDI:: NC_000020.11:57388441:ACA:A
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00024/1 (Estonian)
-=0.00032/19 (GnomAD)
HGVS:: NC_000020.11:g.57388443_57388444del, NC_000020.10:g.55963499_55963500del

Select item 14909840926.

rs1490984092 has merged into rs1274211256 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 20:57388428 (GRCh38)
20:55963484 (GRCh37)
Canonical SPDI:: NC_000020.11:57388427:AAAAAA:AAAAA,NC_000020.11:57388427:AAAAAA:AAAAAAA
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.57388433del, NC_000020.11:g.57388433dup, NC_000020.10:g.55963489del, NC_000020.10:g.55963489dup

Select item 14909584317.

rs1490958431 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGGCG [Show Flanks]
Chromosome:: 20:57389194 (GRCh38)
20:55964251 (GRCh37)
Canonical SPDI:: NC_000020.11:57389194:GGGGGCGGGGGGCG:GGGGGCGGGGGGCGGGGGGCG
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGCGGGGGGCGGGGGGCG=0./0 (ALFA)
HGVS:: NC_000020.11:g.57389195GGGGGCG[3], NC_000020.10:g.55964251GGGGGCG[3]

Select item 14908458328.

rs1490845832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:57388474 (GRCh38)
20:55963530 (GRCh37)
Canonical SPDI:: NC_000020.11:57388473:C:A,NC_000020.11:57388473:C:G
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.57388474C>A, NC_000020.11:g.57388474C>G, NC_000020.10:g.55963530C>A, NC_000020.10:g.55963530C>G

Select item 14901787129.

rs1490178712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:57392675 (GRCh38)
20:55967731 (GRCh37)
Canonical SPDI:: NC_000020.11:57392674:G:A
Gene:: RBM38 (Varview), RBM38-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.57392675G>A, NC_000020.10:g.55967731G>A, NM_017495.6:c.259G>A, NM_017495.5:c.259G>A, XM_005260446.5:c.355G>A, XM_005260446.4:c.355G>A, XM_005260446.3:c.355G>A, XM_005260446.2:c.355G>A, XM_005260446.1:c.355G>A, XM_011528885.4:c.355G>A, XM_011528885.3:c.355G>A, XM_011528885.2:c.355G>A, XM_011528885.1:c.355G>A, NM_183425.3:c.259G>A, NM_183425.2:c.259G>A, NM_001291780.2:c.355G>A, NM_001291780.1:c.355G>A, XM_047440258.1:c.259G>A, NR_149006.1:n.382C>T, NP_059965.2:p.Ala87Thr, XP_005260503.1:p.Ala119Thr, XP_011527187.1:p.Ala119Thr, NP_906270.1:p.Ala87Thr, NP_001278709.1:p.Ala119Thr, XP_047296214.1:p.Ala87Thr

Select item 149015070110.

rs1490150701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:57389574 (GRCh38)
20:55964630 (GRCh37)
Canonical SPDI:: NC_000020.11:57389573:G:A
Gene:: RBM38 (Varview), RBM38-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.57389574G>A, NC_000020.10:g.55964630G>A

Select item 149001145511.

rs1490011455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:57389145 (GRCh38)
20:55964201 (GRCh37)
Canonical SPDI:: NC_000020.11:57389144:G:A
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.57389145G>A, NC_000020.10:g.55964201G>A

Select item 148974222912.

rs1489742229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:57382903 (GRCh38)
20:55957959 (GRCh37)
Canonical SPDI:: NC_000020.11:57382902:T:G
Gene:: LOC124904938 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.57382903T>G, NC_000020.10:g.55957959T>G

Select item 148970530013.

rs1489705300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:57394201 (GRCh38)
20:55969257 (GRCh37)
Canonical SPDI:: NC_000020.11:57394200:T:G
Gene:: RBM38 (Varview), RBM38-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.57394201T>G, NC_000020.10:g.55969257T>G

Select item 148960323514.

rs1489603235 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 20:57394813 (GRCh38)
20:55969869 (GRCh37)
Canonical SPDI:: NC_000020.11:57394812:C:
Gene:: RBM38 (Varview), RBM38-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.57394813del, NC_000020.10:g.55969869del

Select item 148957732115.

rs1489577321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:57386472 (GRCh38)
20:55961528 (GRCh37)
Canonical SPDI:: NC_000020.11:57386471:G:T
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.57386472G>T, NC_000020.10:g.55961528G>T

Select item 148942256316.

rs1489422563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:57394893 (GRCh38)
20:55969949 (GRCh37)
Canonical SPDI:: NC_000020.11:57394892:C:G,NC_000020.11:57394892:C:T
Gene:: RBM38 (Varview), RBM38-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.57394893C>G, NC_000020.11:g.57394893C>T, NC_000020.10:g.55969949C>G, NC_000020.10:g.55969949C>T

Select item 148929107817.

rs1489291078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:57392804 (GRCh38)
20:55967860 (GRCh37)
Canonical SPDI:: NC_000020.11:57392803:C:T
Gene:: RBM38 (Varview), RBM38-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.57392804C>T, NC_000020.10:g.55967860C>T, NR_149006.1:n.253G>A

Select item 148916173018.

rs1489161730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:57383797 (GRCh38)
20:55958853 (GRCh37)
Canonical SPDI:: NC_000020.11:57383796:T:C
Gene:: RBM38-AS1 (Varview), LOC124904938 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.57383797T>C, NC_000020.10:g.55958853T>C

Select item 148901915819.

rs1489019158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:57386163 (GRCh38)
20:55961219 (GRCh37)
Canonical SPDI:: NC_000020.11:57386162:C:A
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.57386163C>A, NC_000020.10:g.55961219C>A

Select item 148894849820.

rs1488948498 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 20:57387168 (GRCh38)
20:55962225 (GRCh37)
Canonical SPDI:: NC_000020.11:57387168:GAG:GAGAG
Gene:: RBM38-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
GA=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.57387170_57387171dup, NC_000020.10:g.55962226_55962227dup

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