SNP Links for Gene (Select 285266) - SNP

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Select item 14915853711.

rs1491585371 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CGAAAAGAAAAGAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14915246172.

rs1491524617 has merged into rs10637848 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 3:40451426 (GRCh38)
3:40492917 (GRCh37)
Canonical SPDI:: NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:40451411:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
HGVS:: NC_000003.12:g.40451412CA[7], NC_000003.12:g.40451412CA[8], NC_000003.12:g.40451412CA[10], NC_000003.12:g.40451412CA[11], NC_000003.12:g.40451412CA[12], NC_000003.12:g.40451412CA[13], NC_000003.12:g.40451412CA[14], NC_000003.12:g.40451412CA[15], NC_000003.12:g.40451412CA[16], NC_000003.12:g.40451412CA[17], NC_000003.12:g.40451412CA[19], NC_000003.12:g.40451412CA[20], NC_000003.12:g.40451412CA[21], NC_000003.12:g.40451412CA[22], NC_000003.12:g.40451412CA[23], NC_000003.12:g.40451412CA[24], NC_000003.12:g.40451412CA[25], NC_000003.12:g.40451412CA[26], NC_000003.12:g.40451412CA[27], NC_000003.12:g.40451412CA[28], NC_000003.12:g.40451412CA[29], NC_000003.12:g.40451412CA[31], NC_000003.11:g.40492903CA[7], NC_000003.11:g.40492903CA[8], NC_000003.11:g.40492903CA[10], NC_000003.11:g.40492903CA[11], NC_000003.11:g.40492903CA[12], NC_000003.11:g.40492903CA[13], NC_000003.11:g.40492903CA[14], NC_000003.11:g.40492903CA[15], NC_000003.11:g.40492903CA[16], NC_000003.11:g.40492903CA[17], NC_000003.11:g.40492903CA[19], NC_000003.11:g.40492903CA[20], NC_000003.11:g.40492903CA[21], NC_000003.11:g.40492903CA[22], NC_000003.11:g.40492903CA[23], NC_000003.11:g.40492903CA[24], NC_000003.11:g.40492903CA[25], NC_000003.11:g.40492903CA[26], NC_000003.11:g.40492903CA[27], NC_000003.11:g.40492903CA[28], NC_000003.11:g.40492903CA[29], NC_000003.11:g.40492903CA[31]

Select item 14913978803.

rs1491397880 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:40392592 (GRCh38)
3:40434083 (GRCh37)
Canonical SPDI:: NC_000003.12:40392591:AT:
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.40392592_40392593del, NC_000003.11:g.40434083_40434084del, NG_047041.1:g.10437_10438del

Select item 14913484184.

rs1491348418 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:40410444 (GRCh38)
3:40451936 (GRCh37)
Canonical SPDI:: NC_000003.12:40410444::C
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000036/2 (GnomAD)
HGVS:: NC_000003.12:g.40410444_40410445insC, NC_000003.11:g.40451935_40451936insC, NG_047041.1:g.28289_28290insC

Select item 14913446175.

rs1491344617 has merged into rs112252461 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:40403665 (GRCh38)
3:40445156 (GRCh37)
Canonical SPDI:: NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40403653:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.35/14 (GENOME_DK)
T=0.3644/1825 (1000Genomes)
HGVS:: NC_000003.12:g.40403665_40403670del, NC_000003.12:g.40403668_40403670del, NC_000003.12:g.40403669_40403670del, NC_000003.12:g.40403670del, NC_000003.12:g.40403670dup, NC_000003.12:g.40403669_40403670dup, NC_000003.12:g.40403668_40403670dup, NC_000003.12:g.40403667_40403670dup, NC_000003.12:g.40403666_40403670dup, NC_000003.12:g.40403663_40403670dup, NC_000003.11:g.40445156_40445161del, NC_000003.11:g.40445159_40445161del, NC_000003.11:g.40445160_40445161del, NC_000003.11:g.40445161del, NC_000003.11:g.40445161dup, NC_000003.11:g.40445160_40445161dup, NC_000003.11:g.40445159_40445161dup, NC_000003.11:g.40445158_40445161dup, NC_000003.11:g.40445157_40445161dup, NC_000003.11:g.40445154_40445161dup, NG_047041.1:g.21510_21515del, NG_047041.1:g.21513_21515del, NG_047041.1:g.21514_21515del, NG_047041.1:g.21515del, NG_047041.1:g.21515dup, NG_047041.1:g.21514_21515dup, NG_047041.1:g.21513_21515dup, NG_047041.1:g.21512_21515dup, NG_047041.1:g.21511_21515dup, NG_047041.1:g.21508_21515dup

Select item 14913224146.

rs1491322414 has merged into rs11371152 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 3:40410455 (GRCh38)
3:40451946 (GRCh37)
Canonical SPDI:: NC_000003.12:40410443:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:40410443:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:40410443:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:40410443:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:40410443:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:40410443:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:40410443:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.278/1392 (1000Genomes)
A=0.281/1042 (TWINSUK)
A=0.2896/1116 (ALSPAC)
HGVS:: NC_000003.12:g.40410455_40410458del, NC_000003.12:g.40410456_40410458del, NC_000003.12:g.40410457_40410458del, NC_000003.12:g.40410458del, NC_000003.12:g.40410458dup, NC_000003.12:g.40410457_40410458dup, NC_000003.12:g.40410456_40410458dup, NC_000003.11:g.40451946_40451949del, NC_000003.11:g.40451947_40451949del, NC_000003.11:g.40451948_40451949del, NC_000003.11:g.40451949del, NC_000003.11:g.40451949dup, NC_000003.11:g.40451948_40451949dup, NC_000003.11:g.40451947_40451949dup, NG_047041.1:g.28300_28303del, NG_047041.1:g.28301_28303del, NG_047041.1:g.28302_28303del, NG_047041.1:g.28303del, NG_047041.1:g.28303dup, NG_047041.1:g.28302_28303dup, NG_047041.1:g.28301_28303dup

Select item 14912495057.

rs1491249505 [Homo sapiens]

Variant type:: SNV:
Alleles:: GA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14912372668.

rs1491237266 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:40397139 (GRCh38)
3:40438630 (GRCh37)
Canonical SPDI:: NC_000003.12:40397138:TC:
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.40397139_40397140del, NC_000003.11:g.40438630_40438631del, NG_047041.1:g.14984_14985del

Select item 14912270249.

rs1491227024 has merged into rs60012481 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:40392593 (GRCh38)
3:40434084 (GRCh37)
Canonical SPDI:: NC_000003.12:40392592:TTT:TT,NC_000003.12:40392592:TTT:TTTT
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.40392595del, NC_000003.12:g.40392595dup, NC_000003.11:g.40434086del, NC_000003.11:g.40434086dup, NG_047041.1:g.10440del, NG_047041.1:g.10440dup

Select item 149120797210.

rs1491207972 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:40429081 (GRCh38)
3:40470573 (GRCh37)
Canonical SPDI:: NC_000003.12:40429081:T:TT
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40429082dup, NC_000003.11:g.40470573dup, NG_047041.1:g.46927dup

Select item 149118084811.

rs1491180848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 3:40397120 (GRCh38)
3:40438612 (GRCh37)
Canonical SPDI:: NC_000003.12:40397120:TT:TTCTT
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000015/4 (TOPMED)
TTC=0.000677/5 (GnomAD)
HGVS:: NC_000003.12:g.40397122_40397123insCTT, NC_000003.11:g.40438613_40438614insCTT, NG_047041.1:g.14967_14968insCTT

Select item 149115510212.

rs1491155102 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:40429081 (GRCh38)
3:40470572 (GRCh37)
Canonical SPDI:: NC_000003.12:40429080:GT:
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000053/14 (TOPMED)
-=0.003333/2 (NorthernSweden)
HGVS:: NC_000003.12:g.40429081_40429082del, NC_000003.11:g.40470572_40470573del, NG_047041.1:g.46926_46927del

Select item 149113026813.

rs1491130268 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:40403654 (GRCh38)
3:40445146 (GRCh37)
Canonical SPDI:: NC_000003.12:40403654::A
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/2 (GnomAD)
HGVS:: NC_000003.12:g.40403654_40403655insA, NC_000003.11:g.40445145_40445146insA, NG_047041.1:g.21499_21500insA

Select item 149111933314.

rs1491119333 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAC,TCACAC,TCACACAC,TCTCAC,TCTCACAC,TCTCACACAC,TCTCACACACACACAC,TCTCTCAC,TCTCTCACAC,TCTCTCACACAC,TCTCTCACACACACAC,TCTCTCTCAC,TCTCTCTCACAC,TCTCTCTCTCAC,TCTCTCTCTCACAC,TCTCTCTCTCACACACACAC,TCTCTCTCTCTCAC,TCTCTCTCTCTCACAC,TCTCTCTCTCTCTCAC,TCTCTCTCTCTCTCACAC,TCTCTCTCTCTCTCTCAC,TCTCTCTGTCAC [Show Flanks]
Chromosome:: 3:40429826 (GRCh38)
3:40471318 (GRCh37)
Canonical SPDI:: NC_000003.12:40429826:C:CTCAC,NC_000003.12:40429826:C:CTCACAC,NC_000003.12:40429826:C:CTCACACAC,NC_000003.12:40429826:C:CTCTCAC,NC_000003.12:40429826:C:CTCTCACAC,NC_000003.12:40429826:C:CTCTCACACAC,NC_000003.12:40429826:C:CTCTCACACACACACAC,NC_000003.12:40429826:C:CTCTCTCAC,NC_000003.12:40429826:C:CTCTCTCACAC,NC_000003.12:40429826:C:CTCTCTCACACAC,NC_000003.12:40429826:C:CTCTCTCACACACACAC,NC_000003.12:40429826:C:CTCTCTCTCAC,NC_000003.12:40429826:C:CTCTCTCTCACAC,NC_000003.12:40429826:C:CTCTCTCTCTCAC,NC_000003.12:40429826:C:CTCTCTCTCTCACAC,NC_000003.12:40429826:C:CTCTCTCTCTCACACACACAC,NC_000003.12:40429826:C:CTCTCTCTCTCTCAC,NC_000003.12:40429826:C:CTCTCTCTCTCTCACAC,NC_000003.12:40429826:C:CTCTCTCTCTCTCTCAC,NC_000003.12:40429826:C:CTCTCTCTCTCTCTCACAC,NC_000003.12:40429826:C:CTCTCTCTCTCTCTCTCAC,NC_000003.12:40429826:C:CTCTCTCTGTCAC
Gene:: ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCACAC=0./0 (ALFA)
HGVS:: NC_000003.12:g.40429827_40429828insTCAC, NC_000003.12:g.40429827_40429828insTCACAC, NC_000003.12:g.40429827_40429828insTCACACAC, NC_000003.12:g.40429827CT[2]CAC[1], NC_000003.12:g.40429827CT[2]CA[2]C[1], NC_000003.12:g.40429827CT[2]CA[3]C[1], NC_000003.12:g.40429827CT[2]CA[6]C[1], NC_000003.12:g.40429827CT[3]CAC[1], NC_000003.12:g.40429827CT[3]CA[2]C[1], NC_000003.12:g.40429827CT[3]CA[3]C[1], NC_000003.12:g.40429827CT[3]CA[5]C[1], NC_000003.12:g.40429827CT[4]CAC[1], NC_000003.12:g.40429827CT[4]CA[2]C[1], NC_000003.12:g.40429827CT[5]CAC[1], NC_000003.12:g.40429827CT[5]CA[2]C[1], NC_000003.12:g.40429827CT[5]CA[5]C[1], NC_000003.12:g.40429827CT[6]CAC[1], NC_000003.12:g.40429827CT[6]CA[2]C[1], NC_000003.12:g.40429827CT[7]CAC[1], NC_000003.12:g.40429827CT[7]CA[2]C[1], NC_000003.12:g.40429827CT[8]CAC[1], NC_000003.12:g.40429827CT[4]GTCAC[1], NC_000003.11:g.40471318_40471319insTCAC, NC_000003.11:g.40471318_40471319insTCACAC, NC_000003.11:g.40471318_40471319insTCACACAC, NC_000003.11:g.40471318CT[2]CAC[1], NC_000003.11:g.40471318CT[2]CA[2]C[1], NC_000003.11:g.40471318CT[2]CA[3]C[1], NC_000003.11:g.40471318CT[2]CA[6]C[1], NC_000003.11:g.40471318CT[3]CAC[1], NC_000003.11:g.40471318CT[3]CA[2]C[1], NC_000003.11:g.40471318CT[3]CA[3]C[1], NC_000003.11:g.40471318CT[3]CA[5]C[1], NC_000003.11:g.40471318CT[4]CAC[1], NC_000003.11:g.40471318CT[4]CA[2]C[1], NC_000003.11:g.40471318CT[5]CAC[1], NC_000003.11:g.40471318CT[5]CA[2]C[1], NC_000003.11:g.40471318CT[5]CA[5]C[1], NC_000003.11:g.40471318CT[6]CAC[1], NC_000003.11:g.40471318CT[6]CA[2]C[1], NC_000003.11:g.40471318CT[7]CAC[1], NC_000003.11:g.40471318CT[7]CA[2]C[1], NC_000003.11:g.40471318CT[8]CAC[1], NC_000003.11:g.40471318CT[4]GTCAC[1], NG_047041.1:g.47672_47673insTCAC, NG_047041.1:g.47672_47673insTCACAC, NG_047041.1:g.47672_47673insTCACACAC, NG_047041.1:g.47672CT[2]CAC[1], NG_047041.1:g.47672CT[2]CA[2]C[1], NG_047041.1:g.47672CT[2]CA[3]C[1], NG_047041.1:g.47672CT[2]CA[6]C[1], NG_047041.1:g.47672CT[3]CAC[1], NG_047041.1:g.47672CT[3]CA[2]C[1], NG_047041.1:g.47672CT[3]CA[3]C[1], NG_047041.1:g.47672CT[3]CA[5]C[1], NG_047041.1:g.47672CT[4]CAC[1], NG_047041.1:g.47672CT[4]CA[2]C[1], NG_047041.1:g.47672CT[5]CAC[1], NG_047041.1:g.47672CT[5]CA[2]C[1], NG_047041.1:g.47672CT[5]CA[5]C[1], NG_047041.1:g.47672CT[6]CAC[1], NG_047041.1:g.47672CT[6]CA[2]C[1], NG_047041.1:g.47672CT[7]CAC[1], NG_047041.1:g.47672CT[7]CA[2]C[1], NG_047041.1:g.47672CT[8]CAC[1], NG_047041.1:g.47672CT[4]GTCAC[1]

Select item 149111808215.

rs1491118082 has merged into rs112831293 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 3:40449102 (GRCh38)
3:40490593 (GRCh37)
Canonical SPDI:: NC_000003.12:40449090:GTGTGTGTGTGTG:GTGTGTGTGTG,NC_000003.12:40449090:GTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000003.12:40449090:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:40449090:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG
Gene:: ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
GT=0.27077/1734 (1000Genomes)
GT=0.28156/281 (GoNL)
GT=0.29955/1342 (Estonian)
GT=0.35833/215 (NorthernSweden)
GT=0.375/15 (GENOME_DK)
GT=0.40666/745 (Korea1K)
HGVS:: NC_000003.12:g.40449092TG[5], NC_000003.12:g.40449092TG[7], NC_000003.12:g.40449092TG[8], NC_000003.12:g.40449092TG[9], NC_000003.11:g.40490583TG[5], NC_000003.11:g.40490583TG[7], NC_000003.11:g.40490583TG[8], NC_000003.11:g.40490583TG[9]

Select item 149108274316.

rs1491082743 has merged into rs772624430 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 3:40434834 (GRCh38)
3:40476325 (GRCh37)
Canonical SPDI:: NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:40434820:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATATATATATA=0.00581/94 (ALFA)
ATATATAT=0.15/6 (GENOME_DK)
HGVS:: NC_000003.12:g.40434822TA[6], NC_000003.12:g.40434822TA[8], NC_000003.12:g.40434822TA[9], NC_000003.12:g.40434822TA[10], NC_000003.12:g.40434822TA[11], NC_000003.12:g.40434822TA[12], NC_000003.12:g.40434822TA[14], NC_000003.12:g.40434822TA[15], NC_000003.12:g.40434822TA[17], NC_000003.12:g.40434822TA[18], NC_000003.12:g.40434822TA[20], NC_000003.12:g.40434822TA[21], NC_000003.12:g.40434822TA[22], NC_000003.12:g.40434822TA[24], NC_000003.12:g.40434822TA[25], NC_000003.11:g.40476313TA[6], NC_000003.11:g.40476313TA[8], NC_000003.11:g.40476313TA[9], NC_000003.11:g.40476313TA[10], NC_000003.11:g.40476313TA[11], NC_000003.11:g.40476313TA[12], NC_000003.11:g.40476313TA[14], NC_000003.11:g.40476313TA[15], NC_000003.11:g.40476313TA[17], NC_000003.11:g.40476313TA[18], NC_000003.11:g.40476313TA[20], NC_000003.11:g.40476313TA[21], NC_000003.11:g.40476313TA[22], NC_000003.11:g.40476313TA[24], NC_000003.11:g.40476313TA[25]

Select item 149104510317.

rs1491045103 has merged into rs201292183 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 3:40425910 (GRCh38)
3:40467401 (GRCh37)
Canonical SPDI:: NC_000003.12:40425897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:40425897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:40425897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:40425897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:40425897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:40425897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:40425897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.0306/118 (ALSPAC)
A=0.0326/121 (TWINSUK)
A=0.1708/97 (NorthernSweden)
A=0.25/10 (GENOME_DK)
A=0.401/2008 (1000Genomes)
HGVS:: NC_000003.12:g.40425910_40425913del, NC_000003.12:g.40425911_40425913del, NC_000003.12:g.40425912_40425913del, NC_000003.12:g.40425913del, NC_000003.12:g.40425913dup, NC_000003.12:g.40425912_40425913dup, NC_000003.12:g.40425907_40425913dup, NC_000003.11:g.40467401_40467404del, NC_000003.11:g.40467402_40467404del, NC_000003.11:g.40467403_40467404del, NC_000003.11:g.40467404del, NC_000003.11:g.40467404dup, NC_000003.11:g.40467403_40467404dup, NC_000003.11:g.40467398_40467404dup, NG_047041.1:g.43755_43758del, NG_047041.1:g.43756_43758del, NG_047041.1:g.43757_43758del, NG_047041.1:g.43758del, NG_047041.1:g.43758dup, NG_047041.1:g.43757_43758dup, NG_047041.1:g.43752_43758dup

Select item 149103606118.

rs1491036061 has merged into rs35267876 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:40426114 (GRCh38)
3:40467605 (GRCh37)
Canonical SPDI:: NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:40426107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.40426114_40426126del, NC_000003.12:g.40426117_40426126del, NC_000003.12:g.40426119_40426126del, NC_000003.12:g.40426122_40426126del, NC_000003.12:g.40426123_40426126del, NC_000003.12:g.40426124_40426126del, NC_000003.12:g.40426125_40426126del, NC_000003.12:g.40426126del, NC_000003.12:g.40426126dup, NC_000003.12:g.40426125_40426126dup, NC_000003.12:g.40426124_40426126dup, NC_000003.12:g.40426123_40426126dup, NC_000003.12:g.40426122_40426126dup, NC_000003.12:g.40426121_40426126dup, NC_000003.12:g.40426120_40426126dup, NC_000003.12:g.40426119_40426126dup, NC_000003.12:g.40426118_40426126dup, NC_000003.12:g.40426117_40426126dup, NC_000003.12:g.40426116_40426126dup, NC_000003.12:g.40426115_40426126dup, NC_000003.12:g.40426114_40426126dup, NC_000003.12:g.40426113_40426126dup, NC_000003.12:g.40426112_40426126dup, NC_000003.12:g.40426111_40426126dup, NC_000003.12:g.40426110_40426126dup, NC_000003.12:g.40426109_40426126dup, NC_000003.12:g.40426126_40426127insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.40467605_40467617del, NC_000003.11:g.40467608_40467617del, NC_000003.11:g.40467610_40467617del, NC_000003.11:g.40467613_40467617del, NC_000003.11:g.40467614_40467617del, NC_000003.11:g.40467615_40467617del, NC_000003.11:g.40467616_40467617del, NC_000003.11:g.40467617del, NC_000003.11:g.40467617dup, NC_000003.11:g.40467616_40467617dup, NC_000003.11:g.40467615_40467617dup, NC_000003.11:g.40467614_40467617dup, NC_000003.11:g.40467613_40467617dup, NC_000003.11:g.40467612_40467617dup, NC_000003.11:g.40467611_40467617dup, NC_000003.11:g.40467610_40467617dup, NC_000003.11:g.40467609_40467617dup, NC_000003.11:g.40467608_40467617dup, NC_000003.11:g.40467607_40467617dup, NC_000003.11:g.40467606_40467617dup, NC_000003.11:g.40467605_40467617dup, NC_000003.11:g.40467604_40467617dup, NC_000003.11:g.40467603_40467617dup, NC_000003.11:g.40467602_40467617dup, NC_000003.11:g.40467601_40467617dup, NC_000003.11:g.40467600_40467617dup, NC_000003.11:g.40467617_40467618insTTTTTTTTTTTTTTTTTTTT, NG_047041.1:g.43959_43971del, NG_047041.1:g.43962_43971del, NG_047041.1:g.43964_43971del, NG_047041.1:g.43967_43971del, NG_047041.1:g.43968_43971del, NG_047041.1:g.43969_43971del, NG_047041.1:g.43970_43971del, NG_047041.1:g.43971del, NG_047041.1:g.43971dup, NG_047041.1:g.43970_43971dup, NG_047041.1:g.43969_43971dup, NG_047041.1:g.43968_43971dup, NG_047041.1:g.43967_43971dup, NG_047041.1:g.43966_43971dup, NG_047041.1:g.43965_43971dup, NG_047041.1:g.43964_43971dup, NG_047041.1:g.43963_43971dup, NG_047041.1:g.43962_43971dup, NG_047041.1:g.43961_43971dup, NG_047041.1:g.43960_43971dup, NG_047041.1:g.43959_43971dup, NG_047041.1:g.43958_43971dup, NG_047041.1:g.43957_43971dup, NG_047041.1:g.43956_43971dup, NG_047041.1:g.43955_43971dup, NG_047041.1:g.43954_43971dup, NG_047041.1:g.43971_43972insTTTTTTTTTTTTTTTTTTTT

Select item 149097995119.

rs1490979951 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:40390554 (GRCh38)
3:40432045 (GRCh37)
Canonical SPDI:: NC_000003.12:40390553:GG:G
Gene:: ENTPD3 (Varview), ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40390555del, NC_000003.11:g.40432046del, NG_047041.1:g.8400del

Select item 149093846820.

rs1490938468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40434965 (GRCh38)
3:40476456 (GRCh37)
Canonical SPDI:: NC_000003.12:40434964:C:T
Gene:: ENTPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.40434965C>T, NC_000003.11:g.40476456C>T

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