SNP Links for Gene (Select 57291) - SNP

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Select item 14915470621.

rs1491547062 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT [Show Flanks]
Chromosome:: 4:52719188 (GRCh38)
4:53585355 (GRCh37)
Canonical SPDI:: NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000004.12:52719172:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0.01017/136 (ALFA)
-=0.01701/10 (NorthernSweden)
HGVS:: NC_000004.12:g.52719174AT[7], NC_000004.12:g.52719174AT[8], NC_000004.12:g.52719174AT[10], NC_000004.12:g.52719174AT[11], NC_000004.12:g.52719174AT[12], NC_000004.12:g.52719174AT[13], NC_000004.12:g.52719174AT[14], NC_000004.12:g.52719174AT[15], NC_000004.12:g.52719174AT[16], NC_000004.12:g.52719174AT[17], NC_000004.12:g.52719174AT[18], NC_000004.11:g.53585341AT[7], NC_000004.11:g.53585341AT[8], NC_000004.11:g.53585341AT[10], NC_000004.11:g.53585341AT[11], NC_000004.11:g.53585341AT[12], NC_000004.11:g.53585341AT[13], NC_000004.11:g.53585341AT[14], NC_000004.11:g.53585341AT[15], NC_000004.11:g.53585341AT[16], NC_000004.11:g.53585341AT[17], NC_000004.11:g.53585341AT[18]

Select item 14915034172.

rs1491503417 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 4:52719146 (GRCh38)
4:53585314 (GRCh37)
Canonical SPDI:: NC_000004.12:52719146:T:TAT
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.52719147_52719148insAT, NC_000004.11:g.53585314_53585315insAT

Select item 14913573563.

rs1491357356 has merged into rs60826039 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 4:52711021 (GRCh38)
4:53577188 (GRCh37)
Canonical SPDI:: NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: DANCR (Varview), MIR4449 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
ACAC=0.01078/54 (1000Genomes)
AC=0.16355/35 (Vietnamese)
HGVS:: NC_000004.12:g.52711011CA[5], NC_000004.12:g.52711011CA[6], NC_000004.12:g.52711011CA[7], NC_000004.12:g.52711011CA[8], NC_000004.12:g.52711011CA[10], NC_000004.12:g.52711011CA[11], NC_000004.12:g.52711011CA[12], NC_000004.11:g.53577178CA[5], NC_000004.11:g.53577178CA[6], NC_000004.11:g.53577178CA[7], NC_000004.11:g.53577178CA[8], NC_000004.11:g.53577178CA[10], NC_000004.11:g.53577178CA[11], NC_000004.11:g.53577178CA[12]

Select item 14913029364.

rs1491302936 has merged into rs35709586 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:52719203 (GRCh38)
4:53585370 (GRCh37)
Canonical SPDI:: NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:52719190:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DANCR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.52719203_52719220del, NC_000004.12:g.52719205_52719220del, NC_000004.12:g.52719206_52719220del, NC_000004.12:g.52719207_52719220del, NC_000004.12:g.52719208_52719220del, NC_000004.12:g.52719209_52719220del, NC_000004.12:g.52719210_52719220del, NC_000004.12:g.52719211_52719220del, NC_000004.12:g.52719212_52719220del, NC_000004.12:g.52719213_52719220del, NC_000004.12:g.52719214_52719220del, NC_000004.12:g.52719215_52719220del, NC_000004.12:g.52719216_52719220del, NC_000004.12:g.52719217_52719220del, NC_000004.12:g.52719218_52719220del, NC_000004.12:g.52719219_52719220del, NC_000004.12:g.52719220del, NC_000004.12:g.52719220dup, NC_000004.12:g.52719219_52719220dup, NC_000004.12:g.52719218_52719220dup, NC_000004.12:g.52719215_52719220dup, NC_000004.12:g.52719214_52719220dup, NC_000004.12:g.52719213_52719220dup, NC_000004.12:g.52719212_52719220dup, NC_000004.11:g.53585370_53585387del, NC_000004.11:g.53585372_53585387del, NC_000004.11:g.53585373_53585387del, NC_000004.11:g.53585374_53585387del, NC_000004.11:g.53585375_53585387del, NC_000004.11:g.53585376_53585387del, NC_000004.11:g.53585377_53585387del, NC_000004.11:g.53585378_53585387del, NC_000004.11:g.53585379_53585387del, NC_000004.11:g.53585380_53585387del, NC_000004.11:g.53585381_53585387del, NC_000004.11:g.53585382_53585387del, NC_000004.11:g.53585383_53585387del, NC_000004.11:g.53585384_53585387del, NC_000004.11:g.53585385_53585387del, NC_000004.11:g.53585386_53585387del, NC_000004.11:g.53585387del, NC_000004.11:g.53585387dup, NC_000004.11:g.53585386_53585387dup, NC_000004.11:g.53585385_53585387dup, NC_000004.11:g.53585382_53585387dup, NC_000004.11:g.53585381_53585387dup, NC_000004.11:g.53585380_53585387dup, NC_000004.11:g.53585379_53585387dup

Select item 14912035735.

rs1491203573 has merged into rs138337997 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:52719160 (GRCh38)
4:53585327 (GRCh37)
Canonical SPDI:: NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52719145:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DANCR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.52719146GT[7], NC_000004.12:g.52719146GT[8], NC_000004.12:g.52719146GT[9], NC_000004.12:g.52719146GT[10], NC_000004.12:g.52719146GT[11], NC_000004.12:g.52719146GT[12], NC_000004.12:g.52719146GT[13], NC_000004.12:g.52719146GT[15], NC_000004.12:g.52719146GT[16], NC_000004.12:g.52719146GT[17], NC_000004.12:g.52719146GT[18], NC_000004.12:g.52719146GT[19], NC_000004.12:g.52719146GT[20], NC_000004.11:g.53585313GT[7], NC_000004.11:g.53585313GT[8], NC_000004.11:g.53585313GT[9], NC_000004.11:g.53585313GT[10], NC_000004.11:g.53585313GT[11], NC_000004.11:g.53585313GT[12], NC_000004.11:g.53585313GT[13], NC_000004.11:g.53585313GT[15], NC_000004.11:g.53585313GT[16], NC_000004.11:g.53585313GT[17], NC_000004.11:g.53585313GT[18], NC_000004.11:g.53585313GT[19], NC_000004.11:g.53585313GT[20]

Select item 14907134056.

rs1490713405 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:52711480 (GRCh38)
4:53577647 (GRCh37)
Canonical SPDI:: NC_000004.12:52711479:TTTTTT:TTTTT
Gene:: DANCR (Varview), SNORA26 (Varview), MIR4449 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.52711485del, NC_000004.11:g.53577652del

Select item 14905821687.

rs1490582168 has merged into rs60826039 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 4:52711021 (GRCh38)
4:53577188 (GRCh37)
Canonical SPDI:: NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:52711009:ACACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: DANCR (Varview), MIR4449 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
ACAC=0.01078/54 (1000Genomes)
AC=0.16355/35 (Vietnamese)
HGVS:: NC_000004.12:g.52711011CA[5], NC_000004.12:g.52711011CA[6], NC_000004.12:g.52711011CA[7], NC_000004.12:g.52711011CA[8], NC_000004.12:g.52711011CA[10], NC_000004.12:g.52711011CA[11], NC_000004.12:g.52711011CA[12], NC_000004.11:g.53577178CA[5], NC_000004.11:g.53577178CA[6], NC_000004.11:g.53577178CA[7], NC_000004.11:g.53577178CA[8], NC_000004.11:g.53577178CA[10], NC_000004.11:g.53577178CA[11], NC_000004.11:g.53577178CA[12]

Select item 14905637668.

rs1490563766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:52712932 (GRCh38)
4:53579099 (GRCh37)
Canonical SPDI:: NC_000004.12:52712931:A:G
Gene:: DANCR (Varview), SNORA26 (Varview), MIR4449 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
HGVS:: NC_000004.12:g.52712932A>G, NC_000004.11:g.53579099A>G, NR_024031.2:n.243A>G, NR_024031.1:n.183A>G, NR_145129.1:n.243A>G, NR_145130.1:n.243A>G

Select item 14904866529.

rs1490486652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:52712529 (GRCh38)
4:53578696 (GRCh37)
Canonical SPDI:: NC_000004.12:52712528:T:A
Gene:: DANCR (Varview), SNORA26 (Varview), MIR4449 (Varview)
Functional Consequence:: upstream_transcript_variant,splice_donor_variant,2KB_upstream_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_000004.12:g.52712529T>A, NC_000004.11:g.53578696T>A

Select item 149023547710.

rs1490235477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52719305 (GRCh38)
4:53585472 (GRCh37)
Canonical SPDI:: NC_000004.12:52719304:C:T
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.52719305C>T, NC_000004.11:g.53585472C>T

Select item 148973331311.

rs1489733313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:52711444 (GRCh38)
4:53577611 (GRCh37)
Canonical SPDI:: NC_000004.12:52711443:G:A,NC_000004.12:52711443:G:T
Gene:: DANCR (Varview), SNORA26 (Varview), MIR4449 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.52711444G>A, NC_000004.12:g.52711444G>T, NC_000004.11:g.53577611G>A, NC_000004.11:g.53577611G>T

Select item 148955399912.

rs1489553999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:52715951 (GRCh38)
4:53582118 (GRCh37)
Canonical SPDI:: NC_000004.12:52715950:G:A
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.52715951G>A, NC_000004.11:g.53582118G>A

Select item 148952588513.

rs1489525885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52716561 (GRCh38)
4:53582728 (GRCh37)
Canonical SPDI:: NC_000004.12:52716560:C:T
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.52716561C>T, NC_000004.11:g.53582728C>T

Select item 148911161014.

rs1489111610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:52712366 (GRCh38)
4:53578533 (GRCh37)
Canonical SPDI:: NC_000004.12:52712365:C:A,NC_000004.12:52712365:C:T
Gene:: DANCR (Varview), SNORA26 (Varview), MIR4449 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000022/3 (GnomAD)
T=0.000637/11 (TOMMO)
T=0.000685/2 (KOREAN)
T=0.001125/2 (Korea1K)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.52712366C>A, NC_000004.12:g.52712366C>T, NC_000004.11:g.53578533C>A, NC_000004.11:g.53578533C>T

Select item 148872014715.

rs1488720147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52717805 (GRCh38)
4:53583972 (GRCh37)
Canonical SPDI:: NC_000004.12:52717804:C:T
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000004.12:g.52717805C>T, NC_000004.11:g.53583972C>T

Select item 148854512416.

rs1488545124 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:52720960 (GRCh38)
4:53587127 (GRCh37)
Canonical SPDI:: NC_000004.12:52720959:AAA:AA
Gene:: DANCR (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.52720962del, NC_000004.11:g.53587129del

Select item 148801352917.

rs1488013529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:52713592 (GRCh38)
4:53579759 (GRCh37)
Canonical SPDI:: NC_000004.12:52713591:T:C
Gene:: DANCR (Varview), SNORA26 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_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_000004.12:g.52713592T>C, NC_000004.11:g.53579759T>C, NR_024031.2:n.369T>C, NR_024031.1:n.309T>C

Select item 148795665318.

rs1487956653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:52716354 (GRCh38)
4:53582521 (GRCh37)
Canonical SPDI:: NC_000004.12:52716353:T:A,NC_000004.12:52716353:T:C
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.52716354T>A, NC_000004.12:g.52716354T>C, NC_000004.11:g.53582521T>A, NC_000004.11:g.53582521T>C

Select item 148788340219.

rs1487883402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:52716513 (GRCh38)
4:53582680 (GRCh37)
Canonical SPDI:: NC_000004.12:52716512:C:A
Gene:: DANCR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.52716513C>A, NC_000004.11:g.53582680C>A

Select item 148749259720.

rs1487492597 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 4:52717810 (GRCh38)
4:53583977 (GRCh37)
Canonical SPDI:: NC_000004.12:52717807:ATTAT:AT
Gene:: DANCR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.52717810_52717812del, NC_000004.11:g.53583977_53583979del

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