SNP Links for Gene (Select 440944) - SNP

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Select item 14915637181.

rs1491563718 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:9395876 (GRCh38)
3:9437560 (GRCh37)
Canonical SPDI:: NC_000003.12:9395870:GAGAGAG:GAGAG
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.9395872AG[2], NC_000003.11:g.9437556AG[2], NG_034132.1:g.3173AG[2], NM_001013713.1:c.*584TC[2]

Select item 14914339332.

rs1491433933 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:9395871 (GRCh38)
3:9437556 (GRCh37)
Canonical SPDI:: NC_000003.12:9395871:A:AA
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.9395872dup, NC_000003.11:g.9437556dup, NG_034132.1:g.3173dup, NM_001013713.1:c.*588dup

Select item 14913496433.

rs1491349643 has merged into rs5846631 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:9393891 (GRCh38)
3:9435575 (GRCh37)
Canonical SPDI:: NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:9393881:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.0394/152 (ALSPAC)
A=0.0418/155 (TWINSUK)
HGVS:: NC_000003.12:g.9393891_9393895del, NC_000003.12:g.9393893_9393895del, NC_000003.12:g.9393894_9393895del, NC_000003.12:g.9393895del, NC_000003.12:g.9393895dup, NC_000003.12:g.9393894_9393895dup, NC_000003.12:g.9393893_9393895dup, NC_000003.12:g.9393889_9393895dup, NC_000003.11:g.9435575_9435579del, NC_000003.11:g.9435577_9435579del, NC_000003.11:g.9435578_9435579del, NC_000003.11:g.9435579del, NC_000003.11:g.9435579dup, NC_000003.11:g.9435578_9435579dup, NC_000003.11:g.9435577_9435579dup, NC_000003.11:g.9435573_9435579dup, NG_034132.1:g.1192_1196del, NG_034132.1:g.1194_1196del, NG_034132.1:g.1195_1196del, NG_034132.1:g.1196del, NG_034132.1:g.1196dup, NG_034132.1:g.1195_1196dup, NG_034132.1:g.1194_1196dup, NG_034132.1:g.1190_1196dup

Select item 14912632044.

rs1491263204 has merged into rs763730354 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 3:9391282 (GRCh38)
3:9432966 (GRCh37)
Canonical SPDI:: NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:9391272:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000003.12:g.9391282_9391287del, NC_000003.12:g.9391284_9391287del, NC_000003.12:g.9391285_9391287del, NC_000003.12:g.9391286_9391287del, NC_000003.12:g.9391287del, NC_000003.12:g.9391287dup, NC_000003.12:g.9391286_9391287dup, NC_000003.12:g.9391285_9391287dup, NC_000003.12:g.9391284_9391287dup, NC_000003.11:g.9432966_9432971del, NC_000003.11:g.9432968_9432971del, NC_000003.11:g.9432969_9432971del, NC_000003.11:g.9432970_9432971del, NC_000003.11:g.9432971del, NC_000003.11:g.9432971dup, NC_000003.11:g.9432970_9432971dup, NC_000003.11:g.9432969_9432971dup, NC_000003.11:g.9432968_9432971dup

Select item 14909188555.

rs1490918855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:9388091 (GRCh38)
3:9429775 (GRCh37)
Canonical SPDI:: NC_000003.12:9388090:A:G
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.9388091A>G, NC_000003.11:g.9429775A>G, NR_132781.1:n.309T>C

Select item 14908620496.

rs1490862049 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:9389006 (GRCh38)
3:9430690 (GRCh37)
Canonical SPDI:: NC_000003.12:9389005:A:
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.9389006del, NC_000003.11:g.9430690del, NR_027007.3:n.1711del, NR_027007.2:n.1707del, NR_132780.1:n.1785del

Select item 14908091557.

rs1490809155 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:9398641 (GRCh38)
3:9440325 (GRCh37)
Canonical SPDI:: NC_000003.12:9398640:A:
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.9398641del, NC_000003.11:g.9440325del, NG_034132.1:g.5942del

Select item 14907700888.

rs1490770088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:9399425 (GRCh38)
3:9441109 (GRCh37)
Canonical SPDI:: NC_000003.12:9399424:G:A,NC_000003.12:9399424:G:T
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.9399425G>A, NC_000003.12:g.9399425G>T, NC_000003.11:g.9441109G>A, NC_000003.11:g.9441109G>T, NG_034132.1:g.6726G>A, NG_034132.1:g.6726G>T

Select item 14906993509.

rs1490699350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:9394248 (GRCh38)
3:9435932 (GRCh37)
Canonical SPDI:: NC_000003.12:9394247:C:A,NC_000003.12:9394247:C:T
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.9394248C>A, NC_000003.12:g.9394248C>T, NC_000003.11:g.9435932C>A, NC_000003.11:g.9435932C>T, NG_034132.1:g.1549C>A, NG_034132.1:g.1549C>T, NM_001013713.1:c.*2211G>T, NM_001013713.1:c.*2211G>A

Select item 149059041310.

rs1490590413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:9393248 (GRCh38)
3:9434932 (GRCh37)
Canonical SPDI:: NC_000003.12:9393247:G:A
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.9393248G>A, NC_000003.11:g.9434932G>A, NG_034132.1:g.549G>A

Select item 149053472511.

rs1490534725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 3:9395152 (GRCh38)
3:9436836 (GRCh37)
Canonical SPDI:: NC_000003.12:9395151:A:C,NC_000003.12:9395151:A:G,NC_000003.12:9395151:A:T
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.9395152A>C, NC_000003.12:g.9395152A>G, NC_000003.12:g.9395152A>T, NC_000003.11:g.9436836A>C, NC_000003.11:g.9436836A>G, NC_000003.11:g.9436836A>T, NG_034132.1:g.2453A>C, NG_034132.1:g.2453A>G, NG_034132.1:g.2453A>T, NM_001013713.1:c.*1308T>G, NM_001013713.1:c.*1308T>C, NM_001013713.1:c.*1308T>A

Select item 149037057212.

rs1490370572 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:9389352 (GRCh38)
3:9431036 (GRCh37)
Canonical SPDI:: NC_000003.12:9389351:AAAA:AAA
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.9389355del, NC_000003.11:g.9431039del, NR_027007.3:n.1365del, NR_027007.2:n.1361del, NR_132780.1:n.1439del

Select item 149004689613.

rs1490046896 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:9388594 (GRCh38)
3:9430278 (GRCh37)
Canonical SPDI:: NC_000003.12:9388591:CTCT:CT
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.9388592CT[1], NC_000003.11:g.9430276CT[1]

Select item 148963469614.

rs1489634696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:9386523 (GRCh38)
3:9428207 (GRCh37)
Canonical SPDI:: NC_000003.12:9386522:A:G
Gene:: THUMPD3 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_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.9386523A>G, NC_000003.11:g.9428207A>G, XM_005265022.5:c.*1835A>G, XM_005265022.4:c.*1835A>G, XM_005265022.3:c.*1835A>G, XM_005265022.2:c.*1835A>G, XM_005265022.1:c.*1835A>G, XM_005265021.5:c.*1835A>G, XM_005265021.4:c.*1835A>G, XM_005265021.3:c.*1835A>G, XM_005265021.2:c.*1835A>G, XM_005265021.1:c.*1835A>G, XM_006713086.4:c.*1835A>G, XM_006713086.3:c.*1835A>G, XM_006713086.2:c.*1835A>G, XM_006713086.1:c.*1835A>G, XM_005265023.4:c.*1835A>G, XM_005265023.3:c.*1835A>G, XM_005265023.2:c.*1835A>G, XM_005265023.1:c.*1835A>G, XM_011533570.3:c.*1835A>G, XM_011533570.2:c.*1835A>G, XM_011533570.1:c.*1835A>G, NM_015453.3:c.*1835A>G, NM_015453.2:c.*1835A>G, XM_017006115.3:c.*1791A>G, XM_017006116.3:c.*1791A>G, XM_017006116.2:c.*1791A>G, XM_017006116.1:c.*1791A>G, XM_017006114.2:c.*1791A>G, XM_017006113.2:c.*1791A>G, NM_001114092.2:c.*1835A>G, NM_001114092.1:c.*1835A>G, XM_047447929.1:c.*1791A>G

Select item 148958245615.

rs1489582456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:9397657 (GRCh38)
3:9439341 (GRCh37)
Canonical SPDI:: NC_000003.12:9397656:C:A,NC_000003.12:9397656:C:T
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.9397657C>A, NC_000003.12:g.9397657C>T, NC_000003.11:g.9439341C>A, NC_000003.11:g.9439341C>T, NG_034132.1:g.4958C>A, NG_034132.1:g.4958C>T, NM_001080517.3:c.-497C>A, NM_001080517.3:c.-497C>T, NM_001349451.2:c.-1096C>A, NM_001349451.2:c.-1096C>T, NM_001292043.2:c.-1055C>A, NM_001292043.2:c.-1055C>T, XM_011533922.2:c.-497C>A, XM_011533922.2:c.-497C>T, XM_017006771.2:c.-497C>A, XM_017006771.2:c.-497C>T, XM_011533928.2:c.-497C>A, XM_011533928.2:c.-497C>T, XM_017006774.2:c.-497C>A, XM_017006774.2:c.-497C>T, XM_005265301.2:c.-497C>A, XM_005265301.2:c.-497C>T, XM_047448468.1:c.-5969C>A, XM_047448468.1:c.-5969C>T, XM_047448466.1:c.-5029C>A, XM_047448466.1:c.-5029C>T, XM_047448478.1:c.-5029C>A, XM_047448478.1:c.-5029C>T, XM_047448477.1:c.-5029C>A, XM_047448477.1:c.-5029C>T, XM_047448485.1:c.-5029C>A, XM_047448485.1:c.-5029C>T, XM_047448483.1:c.-5029C>A, XM_047448483.1:c.-5029C>T, XM_047448486.1:c.-5029C>A, XM_047448486.1:c.-5029C>T, XM_047448495.1:c.-5029C>A, XM_047448495.1:c.-5029C>T, XM_047448500.1:c.-5029C>A, XM_047448500.1:c.-5029C>T, XM_047448501.1:c.-5029C>A, XM_047448501.1:c.-5029C>T, XM_047448503.1:c.-5029C>A, XM_047448503.1:c.-5029C>T, XM_047448476.1:c.-1711C>A, XM_047448476.1:c.-1711C>T, XM_047448506.1:c.-5029C>A, XM_047448506.1:c.-5029C>T, XM_047448507.1:c.-5029C>A, XM_047448507.1:c.-5029C>T, XM_047448508.1:c.-5029C>A, XM_047448508.1:c.-5029C>T, XM_047448473.1:c.-1032C>A, XM_047448473.1:c.-1032C>T, XM_047448482.1:c.-1032C>A, XM_047448482.1:c.-1032C>T, XM_047448489.1:c.-1032C>A, XM_047448489.1:c.-1032C>T, XM_047448487.1:c.-1032C>A, XM_047448487.1:c.-1032C>T, XM_047448496.1:c.-1032C>A, XM_047448496.1:c.-1032C>T, XM_047448474.1:c.-510C>A, XM_047448474.1:c.-510C>T, XM_047448479.1:c.-510C>A, XM_047448479.1:c.-510C>T, XM_047448481.1:c.-510C>A, XM_047448481.1:c.-510C>T, XM_047448480.1:c.-497C>A, XM_047448480.1:c.-497C>T, XM_047448490.1:c.-510C>A, XM_047448490.1:c.-510C>T, XM_047448488.1:c.-510C>A, XM_047448488.1:c.-510C>T, XM_047448492.1:c.-497C>A, XM_047448492.1:c.-497C>T, XM_047448497.1:c.-510C>A, XM_047448497.1:c.-510C>T, XM_047448502.1:c.-497C>A, XM_047448502.1:c.-497C>T, XM_047448504.1:c.-497C>A, XM_047448504.1:c.-497C>T, XM_047448505.1:c.-497C>A, XM_047448505.1:c.-497C>T

Select item 148941517116.

rs1489415171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:9397307 (GRCh38)
3:9438991 (GRCh37)
Canonical SPDI:: NC_000003.12:9397306:T:G
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_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.9397307T>G, NC_000003.11:g.9438991T>G, NG_034132.1:g.4608T>G

Select item 148928747917.

rs1489287479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:9396525 (GRCh38)
3:9438209 (GRCh37)
Canonical SPDI:: NC_000003.12:9396524:A:C
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000003.12:g.9396525A>C, NC_000003.11:g.9438209A>C, NG_034132.1:g.3826A>C, NM_001013713.1:c.460T>G

Select item 148890735018.

rs1488907350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:9385261 (GRCh38)
3:9426945 (GRCh37)
Canonical SPDI:: NC_000003.12:9385260:A:G
Gene:: THUMPD3 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_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.9385261A>G, NC_000003.11:g.9426945A>G, XM_005265022.5:c.*573A>G, XM_005265022.4:c.*573A>G, XM_005265022.3:c.*573A>G, XM_005265022.2:c.*573A>G, XM_005265022.1:c.*573A>G, XM_005265021.5:c.*573A>G, XM_005265021.4:c.*573A>G, XM_005265021.3:c.*573A>G, XM_005265021.2:c.*573A>G, XM_005265021.1:c.*573A>G, XM_006713086.4:c.*573A>G, XM_006713086.3:c.*573A>G, XM_006713086.2:c.*573A>G, XM_006713086.1:c.*573A>G, XM_005265023.4:c.*573A>G, XM_005265023.3:c.*573A>G, XM_005265023.2:c.*573A>G, XM_005265023.1:c.*573A>G, XM_011533570.3:c.*573A>G, XM_011533570.2:c.*573A>G, XM_011533570.1:c.*573A>G, NM_015453.3:c.*573A>G, NM_015453.2:c.*573A>G, XM_017006115.3:c.*529A>G, XM_017006115.2:c.*529A>G, XM_017006115.1:c.*529A>G, XM_017006116.3:c.*529A>G, XM_017006116.2:c.*529A>G, XM_017006116.1:c.*529A>G, XM_017006114.2:c.*529A>G, XM_017006114.1:c.*529A>G, XM_017006113.2:c.*529A>G, XM_017006113.1:c.*529A>G, NM_001114092.2:c.*573A>G, NM_001114092.1:c.*573A>G, XM_047447929.1:c.*529A>G

Select item 148875039819.

rs1488750398 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:9396539 (GRCh38)
3:9438224 (GRCh37)
Canonical SPDI:: NC_000003.12:9396539:T:TT
Gene:: SETD5 (Varview), THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.9396540dup, NC_000003.11:g.9438224dup, NG_034132.1:g.3841dup, NM_001013713.1:c.445dup

Select item 148858673120.

rs1488586731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:9387651 (GRCh38)
3:9429335 (GRCh37)
Canonical SPDI:: NC_000003.12:9387650:G:A,NC_000003.12:9387650:G:C
Gene:: THUMPD3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.9387651G>A, NC_000003.12:g.9387651G>C, NC_000003.11:g.9429335G>A, NC_000003.11:g.9429335G>C

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