SNP Links for Gene (Select 84135) - SNP

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Select item 14910500701.

rs1491050070 has merged into rs370495437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTATTTTTTTTTTTTTTTTTTTT,TTTT [Show Flanks]
Chromosome:: 5:73581069 (GRCh38)
5:72876894 (GRCh37)
Canonical SPDI:: NC_000005.10:73581054:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:73581054:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:73581054:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:73581054:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT,NC_000005.10:73581054:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000005.10:g.73581069_73581070del, NC_000005.10:g.73581070del, NC_000005.10:g.73581070dup, NC_000005.10:g.73581055_73581070T[17]ATTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.73581069_73581070dup, NC_000005.9:g.72876894_72876895del, NC_000005.9:g.72876895del, NC_000005.9:g.72876895dup, NC_000005.9:g.72876880_72876895T[17]ATTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.72876894_72876895dup, NM_032175.4:c.*975_*976del, NM_032175.4:c.*976del, NM_032175.4:c.*976dup, NM_032175.4:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], NM_032175.4:c.*975_*976dup, NM_032175.3:c.*975_*976del, NM_032175.3:c.*976del, NM_032175.3:c.*976dup, NM_032175.3:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], NM_032175.3:c.*975_*976dup, NM_032175.2:c.*975_*976del, NM_032175.2:c.*976del, NM_032175.2:c.*976dup, NM_032175.2:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], NM_032175.2:c.*975_*976dup, XM_011543680.3:c.*975_*976del, XM_011543680.3:c.*976del, XM_011543680.3:c.*976dup, XM_011543680.3:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], XM_011543680.3:c.*975_*976dup, XM_011543680.2:c.*975_*976del, XM_011543680.2:c.*976del, XM_011543680.2:c.*976dup, XM_011543680.2:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], XM_011543680.2:c.*975_*976dup, XM_011543680.1:c.*975_*976del, XM_011543680.1:c.*976del, XM_011543680.1:c.*976dup, XM_011543680.1:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], XM_011543680.1:c.*975_*976dup, NM_001284430.1:c.*975_*976del, NM_001284430.1:c.*976del, NM_001284430.1:c.*976dup, NM_001284430.1:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], NM_001284430.1:c.*975_*976dup, NM_001284431.1:c.*975_*976del, NM_001284431.1:c.*976del, NM_001284431.1:c.*976dup, NM_001284431.1:c.*961_*976T[17]ATTTTTTTTTTTTTTTTTTTT[1], NM_001284431.1:c.*975_*976dup

Select item 14909734352.

rs1490973435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:73564473 (GRCh38)
5:72860298 (GRCh37)
Canonical SPDI:: NC_000005.10:73564472:C:G
Gene:: ANKRA2 (Varview), UTP15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.73564473C>G, NC_000005.9:g.72860298C>G

Select item 14907560413.

rs1490756041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:73572066 (GRCh38)
5:72867891 (GRCh37)
Canonical SPDI:: NC_000005.10:73572065:C:G,NC_000005.10:73572065:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73572066C>G, NC_000005.10:g.73572066C>T, NC_000005.9:g.72867891C>G, NC_000005.9:g.72867891C>T

Select item 14905206764.

rs1490520676 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGTGACA [Show Flanks]
Chromosome:: 5:73570334 (GRCh38)
5:72866160 (GRCh37)
Canonical SPDI:: NC_000005.10:73570334:TAGTGACA:TAGTGACATAGTGACA
Gene:: UTP15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGTGACATAGTGACA=0./0 (ALFA)
TAGTGACA=0.000004/1 (TOPMED)
TAGTGACA=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73570335_73570342dup, NC_000005.9:g.72866160_72866167dup

Select item 14903997615.

rs1490399761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73576195 (GRCh38)
5:72872020 (GRCh37)
Canonical SPDI:: NC_000005.10:73576194:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000306/5 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000005.10:g.73576195C>T, NC_000005.9:g.72872020C>T

Select item 14899083506.

rs1489908350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:73575351 (GRCh38)
5:72871176 (GRCh37)
Canonical SPDI:: NC_000005.10:73575350:G:A
Gene:: UTP15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73575351G>A, NC_000005.9:g.72871176G>A

Select item 14895591607.

rs1489559160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73577302 (GRCh38)
5:72873127 (GRCh37)
Canonical SPDI:: NC_000005.10:73577301:A:G
Gene:: UTP15 (Varview)
Functional Consequence:: intron_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_000005.10:g.73577302A>G, NC_000005.9:g.72873127A>G

Select item 14895364108.

rs1489536410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:73565368 (GRCh38)
5:72861193 (GRCh37)
Canonical SPDI:: NC_000005.10:73565367:T:G
Gene:: ANKRA2 (Varview), UTP15 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,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_000005.10:g.73565368T>G, NC_000005.9:g.72861193T>G, NM_023039.5:c.-341A>C, NM_023039.4:c.-341A>C, XM_005248560.4:c.-558A>C, XM_005248560.3:c.-558A>C, XM_005248560.2:c.-558A>C, XM_005248560.1:c.-558A>C, XM_047417455.1:c.-341A>C

Select item 14894986969.

rs1489498696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:73580915 (GRCh38)
5:72876740 (GRCh37)
Canonical SPDI:: NC_000005.10:73580914:A:C,NC_000005.10:73580914:A:G
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.73580915A>C, NC_000005.10:g.73580915A>G, NC_000005.9:g.72876740A>C, NC_000005.9:g.72876740A>G, NM_032175.4:c.*821A>C, NM_032175.4:c.*821A>G, NM_032175.3:c.*821A>C, NM_032175.3:c.*821A>G, NM_032175.2:c.*821A>C, NM_032175.2:c.*821A>G, XM_011543680.3:c.*821A>C, XM_011543680.3:c.*821A>G, XM_011543680.2:c.*821A>C, XM_011543680.2:c.*821A>G, XM_011543680.1:c.*821A>C, XM_011543680.1:c.*821A>G, NM_001284430.1:c.*821A>C, NM_001284430.1:c.*821A>G, NM_001284431.1:c.*821A>C, NM_001284431.1:c.*821A>G

Select item 148914252710.

rs1489142527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:73564816 (GRCh38)
5:72860641 (GRCh37)
Canonical SPDI:: NC_000005.10:73564815:G:T
Gene:: ANKRA2 (Varview), UTP15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73564816G>T, NC_000005.9:g.72860641G>T

Select item 148912759011.

rs1489127590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:73581321 (GRCh38)
5:72877146 (GRCh37)
Canonical SPDI:: NC_000005.10:73581320:G:T
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000671/3 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000005.10:g.73581321G>T, NC_000005.9:g.72877146G>T, NM_032175.4:c.*1227G>T, NM_032175.3:c.*1227G>T, NM_032175.2:c.*1227G>T, XM_011543680.3:c.*1227G>T, XM_011543680.2:c.*1227G>T, XM_011543680.1:c.*1227G>T, NM_001284430.1:c.*1227G>T, NM_001284431.1:c.*1227G>T

Select item 148909690412.

rs1489096904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:73582192 (GRCh38)
5:72878017 (GRCh37)
Canonical SPDI:: NC_000005.10:73582191:A:C
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.73582192A>C, NC_000005.9:g.72878017A>C, NM_032175.4:c.*2098A>C, NM_032175.3:c.*2098A>C, XM_011543680.3:c.*2098A>C, XM_011543680.2:c.*2098A>C, XM_011543680.1:c.*2098A>C, NM_001284430.1:c.*2098A>C, NM_001284431.1:c.*2098A>C, NM_018610.1:c.-102T>G

Select item 148902891613.

rs1489028916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73574223 (GRCh38)
5:72870048 (GRCh37)
Canonical SPDI:: NC_000005.10:73574222:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.73574223C>T, NC_000005.9:g.72870048C>T

Select item 148901872514.

rs1489018725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:73581316 (GRCh38)
5:72877141 (GRCh37)
Canonical SPDI:: NC_000005.10:73581315:G:A
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.73581316G>A, NC_000005.9:g.72877141G>A, NM_032175.4:c.*1222G>A, NM_032175.3:c.*1222G>A, NM_032175.2:c.*1222G>A, XM_011543680.3:c.*1222G>A, XM_011543680.2:c.*1222G>A, XM_011543680.1:c.*1222G>A, NM_001284430.1:c.*1222G>A, NM_001284431.1:c.*1222G>A

Select item 148899455115.

rs1488994551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73581211 (GRCh38)
5:72877036 (GRCh37)
Canonical SPDI:: NC_000005.10:73581210:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000425/7 (TOMMO)
HGVS:: NC_000005.10:g.73581211C>T, NC_000005.9:g.72877036C>T, NM_032175.4:c.*1117C>T, NM_032175.3:c.*1117C>T, NM_032175.2:c.*1117C>T, XM_011543680.3:c.*1117C>T, XM_011543680.2:c.*1117C>T, XM_011543680.1:c.*1117C>T, NM_001284430.1:c.*1117C>T, NM_001284431.1:c.*1117C>T

Select item 148876204716.

rs1488762047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73581682 (GRCh38)
5:72877507 (GRCh37)
Canonical SPDI:: NC_000005.10:73581681:A:G
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.73581682A>G, NC_000005.9:g.72877507A>G, NM_032175.4:c.*1588A>G, NM_032175.3:c.*1588A>G, NM_032175.2:c.*1588A>G, XM_011543680.3:c.*1588A>G, XM_011543680.2:c.*1588A>G, XM_011543680.1:c.*1588A>G, NM_001284430.1:c.*1588A>G, NM_001284431.1:c.*1588A>G, NM_018610.1:c.*254T>C

Select item 148873480917.

rs1488734809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:73572087 (GRCh38)
5:72867912 (GRCh37)
Canonical SPDI:: NC_000005.10:73572086:C:A,NC_000005.10:73572086:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.73572087C>A, NC_000005.10:g.73572087C>T, NC_000005.9:g.72867912C>A, NC_000005.9:g.72867912C>T

Select item 148866737918.

rs1488667379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73580812 (GRCh38)
5:72876637 (GRCh37)
Canonical SPDI:: NC_000005.10:73580811:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.73580812C>T, NC_000005.9:g.72876637C>T, NM_032175.4:c.*718C>T, NM_032175.3:c.*718C>T, NM_032175.2:c.*718C>T, XM_011543680.3:c.*718C>T, XM_011543680.2:c.*718C>T, XM_011543680.1:c.*718C>T, NM_001284430.1:c.*718C>T, NM_001284431.1:c.*718C>T

Select item 148852068819.

rs1488520688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:73574188 (GRCh38)
5:72870013 (GRCh37)
Canonical SPDI:: NC_000005.10:73574187:G:C
Gene:: UTP15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.73574188G>C, NC_000005.9:g.72870013G>C

Select item 148839366020.

rs1488393660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:73573028 (GRCh38)
5:72868853 (GRCh37)
Canonical SPDI:: NC_000005.10:73573027:C:G
Gene:: UTP15 (Varview)
Functional Consequence:: intron_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_000005.10:g.73573028C>G, NC_000005.9:g.72868853C>G

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