SNP Links for Gene (Select 100507086) - SNP

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Select item 14911814901.

rs1491181490 has merged into rs139984030 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 3:197302144 (GRCh38)
3:197029015 (GRCh37)
Canonical SPDI:: NC_000003.12:197302130:ATATATATATATATA:ATATATATATATA,NC_000003.12:197302130:ATATATATATATATA:ATATATATATATATATA,NC_000003.12:197302130:ATATATATATATATA:ATATATATATATATATATA
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATA=0./0 (ALFA)
AT=0.01102/11 (GoNL)
AT=0.01833/11 (NorthernSweden)
AT=0.10377/22 (Vietnamese)
HGVS:: NC_000003.12:g.197302132TA[6], NC_000003.12:g.197302132TA[8], NC_000003.12:g.197302132TA[9], NC_000003.11:g.197029003TA[6], NC_000003.11:g.197029003TA[8], NC_000003.11:g.197029003TA[9], NG_029099.1:g.1433AT[6], NG_029099.1:g.1433AT[8], NG_029099.1:g.1433AT[9]

Select item 14911731672.

rs1491173167 has merged into rs200151652 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTGTCT [Show Flanks]
Chromosome:: 3:197302183 (GRCh38)
3:197029054 (GRCh37)
Canonical SPDI:: NC_000003.12:197302181:TCT:T,NC_000003.12:197302181:TCT:TCTGTCT
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00894/106 (ALFA)
-=0.00159/23 (TOMMO)
-=0.00646/236 (GnomAD)
GTCT=0.0302/112 (TWINSUK)
TCTG=0.03036/117 (ALSPAC)
HGVS:: NC_000003.12:g.197302183_197302184del, NC_000003.12:g.197302184_197302185insGTCT, NC_000003.11:g.197029054_197029055del, NC_000003.11:g.197029055_197029056insGTCT, NG_029099.1:g.1394_1395del, NG_029099.1:g.1395_1396insCAGA

Select item 14910121033.

rs1491012103 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATC [Show Flanks]
Chromosome:: 3:197302169 (GRCh38)
3:197029041 (GRCh37)
Canonical SPDI:: NC_000003.12:197302169:ATC:ATCATC
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCATC=0.00025/3 (ALFA)
ATC=0.00012/11 (GnomAD)
HGVS:: NC_000003.12:g.197302170_197302172dup, NC_000003.11:g.197029041_197029043dup, NG_029099.1:g.1405_1407dup

Select item 14907297284.

rs1490729728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:197298137 (GRCh38)
3:197025008 (GRCh37)
Canonical SPDI:: NC_000003.12:197298136:G:C
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197298137G>C, NC_000003.11:g.197025008G>C, NG_029099.1:g.5440C>G

Select item 14904249445.

rs1490424944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:197301290 (GRCh38)
3:197028161 (GRCh37)
Canonical SPDI:: NC_000003.12:197301289:A:C,NC_000003.12:197301289:A:T
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.197301290A>C, NC_000003.12:g.197301290A>T, NC_000003.11:g.197028161A>C, NC_000003.11:g.197028161A>T, NG_029099.1:g.2287T>G, NG_029099.1:g.2287T>A

Select item 14903889486.

rs1490388948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197303310 (GRCh38)
3:197030181 (GRCh37)
Canonical SPDI:: NC_000003.12:197303309:A:G
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.197303310A>G, NC_000003.11:g.197030181A>G, NG_029099.1:g.267T>C, NR_038289.1:n.1262A>G

Select item 14901276557.

rs1490127655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:197301323 (GRCh38)
3:197028194 (GRCh37)
Canonical SPDI:: NC_000003.12:197301322:C:A
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00285/48 (TOMMO)
HGVS:: NC_000003.12:g.197301323C>A, NC_000003.11:g.197028194C>A, NG_029099.1:g.2254G>T

Select item 14895657908.

rs1489565790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:197298422 (GRCh38)
3:197025293 (GRCh37)
Canonical SPDI:: NC_000003.12:197298421:C:A,NC_000003.12:197298421:C:T
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.197298422C>A, NC_000003.12:g.197298422C>T, NC_000003.11:g.197025293C>A, NC_000003.11:g.197025293C>T, NG_029099.1:g.5155G>T, NG_029099.1:g.5155G>A, NM_004087.2:c.-36G>T, NM_004087.2:c.-36G>A, NM_001363865.1:c.-36G>T, NM_001363865.1:c.-36G>A, NM_001098424.1:c.-36G>T, NM_001098424.1:c.-36G>A, NM_001204386.1:c.-36G>T, NM_001204386.1:c.-36G>A, NM_001366206.1:c.-36G>T, NM_001366206.1:c.-36G>A, NM_001366208.1:c.-36G>T, NM_001366208.1:c.-36G>A, NR_038289.1:n.176C>A, NR_038289.1:n.176C>T

Select item 14895186819.

rs1489518681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197303427 (GRCh38)
3:197030298 (GRCh37)
Canonical SPDI:: NC_000003.12:197303426:A:G
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000212/4 (TOMMO)
HGVS:: NC_000003.12:g.197303427A>G, NC_000003.11:g.197030298A>G, NG_029099.1:g.150T>C, NR_038289.1:n.1379A>G

Select item 148949278810.

rs1489492788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:197300798 (GRCh38)
3:197027669 (GRCh37)
Canonical SPDI:: NC_000003.12:197300797:G:A
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.0044/8 (Korea1K)
HGVS:: NC_000003.12:g.197300798G>A, NC_000003.11:g.197027669G>A, NG_029099.1:g.2779C>T

Select item 148949136911.

rs1489491369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:197302706 (GRCh38)
3:197029577 (GRCh37)
Canonical SPDI:: NC_000003.12:197302705:C:A
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197302706C>A, NC_000003.11:g.197029577C>A, NG_029099.1:g.871G>T, NR_038289.1:n.658C>A

Select item 148901586812.

rs1489015868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:197302342 (GRCh38)
3:197029213 (GRCh37)
Canonical SPDI:: NC_000003.12:197302341:G:A
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197302342G>A, NC_000003.11:g.197029213G>A, NG_029099.1:g.1235C>T

Select item 148891348713.

rs1488913487 has merged into rs1196412754 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 3:197296952 (GRCh38)
3:197023823 (GRCh37)
Canonical SPDI:: NC_000003.12:197296951:TT:T,NC_000003.12:197296951:TT:TTT,NC_000003.12:197296951:TT:TTTT
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TT=0.000015/4 (TOPMED)
-=0.00002/2 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.197296953del, NC_000003.12:g.197296953dup, NC_000003.12:g.197296952_197296953dup, NC_000003.11:g.197023824del, NC_000003.11:g.197023824dup, NC_000003.11:g.197023823_197023824dup, NG_029099.1:g.6625del, NG_029099.1:g.6625dup, NG_029099.1:g.6624_6625dup

Select item 148879900614.

rs1488799006 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:197297588 (GRCh38)
3:197024459 (GRCh37)
Canonical SPDI:: NC_000003.12:197297587:CT:
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.197297588_197297589del, NC_000003.11:g.197024459_197024460del, NG_029099.1:g.5988_5989del, NR_158765.1:n.547_548del, NM_001366218.1:c.-77_-76del, NM_001366215.1:c.-77_-76del, NM_001366217.1:c.-77_-76del, NM_001366212.1:c.-77_-76del, NM_001366219.1:c.-77_-76del, XM_017005800.2:c.-77_-76del, XM_017005800.1:c.-77_-76del

Select item 148855503015.

rs1488555030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197302963 (GRCh38)
3:197029834 (GRCh37)
Canonical SPDI:: NC_000003.12:197302962:A:G
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197302963A>G, NC_000003.11:g.197029834A>G, NG_029099.1:g.614T>C, NR_038289.1:n.915A>G

Select item 148808587316.

rs1488085873 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>- [Show Flanks]
Chromosome:: 3:197297246 (GRCh38)
3:197024117 (GRCh37)
Canonical SPDI:: NC_000003.12:197297242:ACACACA:ACA
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.197297244CA[1], NC_000003.11:g.197024115CA[1], NG_029099.1:g.6329GT[1]

Select item 148806736417.

rs1488067364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197297931 (GRCh38)
3:197024802 (GRCh37)
Canonical SPDI:: NC_000003.12:197297930:A:G
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_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_000003.12:g.197297931A>G, NC_000003.11:g.197024802A>G, NG_029099.1:g.5646T>C, NR_158765.1:n.205T>C, NM_001366218.1:c.-419T>C, NM_001366215.1:c.-419T>C, NM_001366217.1:c.-419T>C, NM_001366214.1:c.-290T>C, NM_001366212.1:c.-419T>C, NR_158764.1:n.205T>C, NM_001366219.1:c.-419T>C, NM_001366210.1:c.-290T>C, NM_001366213.1:c.-290T>C, NM_001366211.1:c.-290T>C, NM_001366220.1:c.-290T>C, NM_001366209.1:c.-290T>C, NM_001366216.1:c.-290T>C, XM_005269289.5:c.-290T>C, XM_005269289.4:c.-290T>C, XM_005269289.3:c.-290T>C, XM_005269289.2:c.-290T>C, XM_005269289.1:c.-290T>C, XM_011512502.4:c.-290T>C, XM_011512502.3:c.-290T>C, XM_011512502.2:c.-290T>C, XM_011512502.1:c.-290T>C, XM_017005811.3:c.-290T>C, XM_017005811.2:c.-290T>C, XM_017005811.1:c.-290T>C, XM_017005800.2:c.-419T>C, XM_017005800.1:c.-419T>C, XM_047447592.1:c.-290T>C, XR_007095642.1:n.205T>C, XR_007095643.1:n.205T>C, XM_047447593.1:c.-290T>C

Select item 148788470418.

rs1487884704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:197303908 (GRCh38)
3:197030779 (GRCh37)
Canonical SPDI:: NC_000003.12:197303907:T:G
Gene:: DLG1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197303908T>G, NC_000003.11:g.197030779T>G

Select item 148709351719.

rs1487093517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:197297737 (GRCh38)
3:197024608 (GRCh37)
Canonical SPDI:: NC_000003.12:197297736:C:G,NC_000003.12:197297736:C:T
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197297737C>G, NC_000003.12:g.197297737C>T, NC_000003.11:g.197024608C>G, NC_000003.11:g.197024608C>T, NG_029099.1:g.5840G>C, NG_029099.1:g.5840G>A, NR_158765.1:n.399G>C, NR_158765.1:n.399G>A, NM_001366218.1:c.-225G>C, NM_001366218.1:c.-225G>A, NM_001366215.1:c.-225G>C, NM_001366215.1:c.-225G>A, NM_001366217.1:c.-225G>C, NM_001366217.1:c.-225G>A, NM_001366214.1:c.-96G>C, NM_001366214.1:c.-96G>A, NM_001366212.1:c.-225G>C, NM_001366212.1:c.-225G>A, NR_158764.1:n.399G>C, NR_158764.1:n.399G>A, NM_001366219.1:c.-225G>C, NM_001366219.1:c.-225G>A, NM_001366210.1:c.-96G>C, NM_001366210.1:c.-96G>A, NM_001366213.1:c.-96G>C, NM_001366213.1:c.-96G>A, NM_001366211.1:c.-96G>C, NM_001366211.1:c.-96G>A, NM_001366220.1:c.-96G>C, NM_001366220.1:c.-96G>A, NM_001366209.1:c.-96G>C, NM_001366209.1:c.-96G>A, NM_001366216.1:c.-96G>C, NM_001366216.1:c.-96G>A, XM_005269289.5:c.-96G>C, XM_005269289.5:c.-96G>A, XM_005269289.4:c.-96G>C, XM_005269289.4:c.-96G>A, XM_005269289.3:c.-96G>C, XM_005269289.3:c.-96G>A, XM_005269289.2:c.-96G>C, XM_005269289.2:c.-96G>A, XM_005269289.1:c.-96G>C, XM_005269289.1:c.-96G>A, XM_011512502.4:c.-96G>C, XM_011512502.4:c.-96G>A, XM_011512502.3:c.-96G>C, XM_011512502.3:c.-96G>A, XM_011512502.2:c.-96G>C, XM_011512502.2:c.-96G>A, XM_011512502.1:c.-96G>C, XM_011512502.1:c.-96G>A, XM_017005811.3:c.-96G>C, XM_017005811.3:c.-96G>A, XM_017005811.2:c.-96G>C, XM_017005811.2:c.-96G>A, XM_017005811.1:c.-96G>C, XM_017005811.1:c.-96G>A, XM_017005800.2:c.-225G>C, XM_017005800.2:c.-225G>A, XM_017005800.1:c.-225G>C, XM_017005800.1:c.-225G>A, XM_047447592.1:c.-96G>C, XM_047447592.1:c.-96G>A, XR_007095642.1:n.399G>C, XR_007095642.1:n.399G>A, XR_007095643.1:n.399G>C, XR_007095643.1:n.399G>A, XM_047447593.1:c.-96G>C, XM_047447593.1:c.-96G>A

Select item 148636348120.

rs1486363481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:197301257 (GRCh38)
3:197028128 (GRCh37)
Canonical SPDI:: NC_000003.12:197301256:G:A
Gene:: DLG1 (Varview), DLG1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.197301257G>A, NC_000003.11:g.197028128G>A, NG_029099.1:g.2320C>T

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