SNP Links for Gene (Select 79799) - SNP

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Select item 14915433631.

rs1491543363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 4:68942317 (GRCh38)
4:69808036 (GRCh37)
Canonical SPDI:: NC_000004.12:68942317:T:TCT
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TC=0.00007/2 (TOMMO)
HGVS:: NC_000004.12:g.68942318_68942319insCT, NC_000004.11:g.69808036_69808037insCT, NT_167250.2:g.518337_518338insCT, NT_167250.1:g.520287_520288insCT

Select item 14910362152.

rs1491036215 has merged into rs11462731 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:68934057 (GRCh38)
4:69799775 (GRCh37)
Canonical SPDI:: NC_000004.12:68934049:AAAAAAAAA:AAAAAAA,NC_000004.12:68934049:AAAAAAAAA:AAAAAAAA,NC_000004.12:68934049:AAAAAAAAA:AAAAAAAAAA,NC_000004.12:68934049:AAAAAAAAA:AAAAAAAAAAA
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.051351/230 (1000Genomes)
A=0.075/3 (GENOME_DK)
A=0.1002/100 (GoNL)
A=0.116505/432 (TWINSUK)
A=0.122676/32471 (TOPMED)
A=0.125584/484 (ALSPAC)
A=0.15/90 (NorthernSweden)
HGVS:: NC_000004.12:g.68934057_68934058del, NC_000004.12:g.68934058del, NC_000004.12:g.68934058dup, NC_000004.12:g.68934057_68934058dup, NC_000004.11:g.69799775_69799776del, NC_000004.11:g.69799776del, NC_000004.11:g.69799776dup, NC_000004.11:g.69799775_69799776dup, NT_167250.2:g.510076_510077del, NT_167250.2:g.510077del, NT_167250.2:g.510077dup, NT_167250.2:g.510076_510077dup, NT_167250.1:g.512026_512027del, NT_167250.1:g.512027del, NT_167250.1:g.512027dup, NT_167250.1:g.512026_512027dup

Select item 14909689113.

rs1490968911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68938441 (GRCh38)
4:69804159 (GRCh37)
Canonical SPDI:: NC_000004.12:68938440:A:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.68938441A>G, NC_000004.11:g.69804159A>G, NT_167250.2:g.514460A>G, NT_167250.1:g.516410A>G

Select item 14909353474.

rs1490935347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68937540 (GRCh38)
4:69803258 (GRCh37)
Canonical SPDI:: NC_000004.12:68937539:T:C
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_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.68937540T>C, NC_000004.11:g.69803258T>C, NT_167250.2:g.513559T>C, NT_167250.1:g.515509T>C

Select item 14908809115.

rs1490880911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68950365 (GRCh38)
4:69816083 (GRCh37)
Canonical SPDI:: NC_000004.12:68950364:T:C
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.68950365T>C, NC_000004.11:g.69816083T>C, NT_167250.2:g.526384T>C, NT_167250.1:g.528334T>C

Select item 14907581616.

rs1490758161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68944052 (GRCh38)
4:69809770 (GRCh37)
Canonical SPDI:: NC_000004.12:68944051:G:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68944052G>A, NC_000004.11:g.69809770G>A, NT_167250.2:g.520071G>A, NT_167250.1:g.522021G>A

Select item 14906780827.

rs1490678082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68932392 (GRCh38)
4:69798110 (GRCh37)
Canonical SPDI:: NC_000004.12:68932391:A:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68932392A>G, NC_000004.11:g.69798110A>G, NT_167250.2:g.508411A>G, NT_167250.1:g.510361A>G

Select item 14904427818.

rs1490442781 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:68944446 (GRCh38)
4:69810164 (GRCh37)
Canonical SPDI:: NC_000004.12:68944445:AAAA:AAA
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68944449del, NC_000004.11:g.69810167del, NT_167250.2:g.520468del, NT_167250.1:g.522418del

Select item 14901168139.

rs1490116813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68937104 (GRCh38)
4:69802822 (GRCh37)
Canonical SPDI:: NC_000004.12:68937103:A:G
Gene:: UGT2A3 (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_000004.12:g.68937104A>G, NC_000004.11:g.69802822A>G, NT_167250.2:g.513123A>G, NT_167250.1:g.515073A>G

Select item 149002732510.

rs1490027325 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 4:68950912 (GRCh38)
4:69816630 (GRCh37)
Canonical SPDI:: NC_000004.12:68950907:CTTTCTTT:CTTT
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTCTTT=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68950908CTTT[1], NC_000004.11:g.69816626CTTT[1], NT_167250.2:g.526927CTTT[1], NT_167250.1:g.528877CTTT[1]

Select item 148989673511.

rs1489896735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68949484 (GRCh38)
4:69815202 (GRCh37)
Canonical SPDI:: NC_000004.12:68949483:A:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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_000004.12:g.68949484A>G, NC_000004.11:g.69815202A>G, NT_167250.2:g.525503A>G, NT_167250.1:g.527453A>G

Select item 148974187112.

rs1489741871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68949427 (GRCh38)
4:69815145 (GRCh37)
Canonical SPDI:: NC_000004.12:68949426:C:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.68949427C>T, NC_000004.11:g.69815145C>T, NT_167250.2:g.525446C>T, NT_167250.1:g.527396C>T

Select item 148964114413.

rs1489641144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68937685 (GRCh38)
4:69803403 (GRCh37)
Canonical SPDI:: NC_000004.12:68937684:G:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.68937685G>A, NC_000004.11:g.69803403G>A, NT_167250.2:g.513704G>A, NT_167250.1:g.515654G>A

Select item 148960312914.

rs1489603129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68931622 (GRCh38)
4:69797340 (GRCh37)
Canonical SPDI:: NC_000004.12:68931621:T:C
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.68931622T>C, NC_000004.11:g.69797340T>C, NT_167250.2:g.507641T>C, NT_167250.1:g.509591T>C

Select item 148957672515.

rs1489576725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:68951604 (GRCh38)
4:69817322 (GRCh37)
Canonical SPDI:: NC_000004.12:68951603:C:A,NC_000004.12:68951603:C:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68951604C>A, NC_000004.12:g.68951604C>T, NC_000004.11:g.69817322C>A, NC_000004.11:g.69817322C>T, NT_167250.2:g.527623C>A, NT_167250.2:g.527623C>T, NT_167250.1:g.529573C>A, NT_167250.1:g.529573C>T, NM_024743.4:c.157G>T, NM_024743.4:c.157G>A, NM_024743.3:c.157G>T, NM_024743.3:c.157G>A, XM_011532247.3:c.157G>T, XM_011532247.3:c.157G>A, XM_011532247.2:c.157G>T, XM_011532247.2:c.157G>A, XM_011532247.1:c.157G>T, XM_011532247.1:c.157G>A, NR_024010.2:n.201G>T, NR_024010.2:n.201G>A, NR_024010.1:n.188G>T, NR_024010.1:n.188G>A, NP_079019.3:p.Val53Leu, NP_079019.3:p.Val53Ile, XP_011530549.1:p.Val53Leu, XP_011530549.1:p.Val53Ile

Select item 148954230116.

rs1489542301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:68930702 (GRCh38)
4:69796420 (GRCh37)
Canonical SPDI:: NC_000004.12:68930701:T:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68930702T>G, NC_000004.11:g.69796420T>G, NG_083391.1:g.1343T>G, NT_167250.2:g.506721T>G, NT_167250.1:g.508671T>G, NM_024743.4:c.1148A>C, NM_024743.3:c.1148A>C, XM_011532247.3:c.1166A>C, XM_011532247.2:c.1166A>C, XM_011532247.1:c.1166A>C, NR_024010.2:n.1289A>C, NR_024010.1:n.1276A>C, XM_047416177.1:c.281A>C, NP_079019.3:p.Tyr383Ser, XP_011530549.1:p.Tyr389Ser, XP_047272133.1:p.Tyr94Ser

Select item 148949571817.

rs1489495718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 4:68945611 (GRCh38)
4:69811329 (GRCh37)
Canonical SPDI:: NC_000004.12:68945610:T:A,NC_000004.12:68945610:T:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.68945611T>A, NC_000004.12:g.68945611T>G, NC_000004.11:g.69811329T>A, NC_000004.11:g.69811329T>G, NT_167250.2:g.521630T>A, NT_167250.2:g.521630T>G, NT_167250.1:g.523580T>A, NT_167250.1:g.523580T>G

Select item 148923860618.

rs1489238606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGAC [Show Flanks]
Chromosome:: 4:68933257 (GRCh38)
4:69798976 (GRCh37)
Canonical SPDI:: NC_000004.12:68933257:CATGAC:CATGACATGAC
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATGACATGAC=0./0 (ALFA)
CATGA=0.000008/2 (TOPMED)
CATGA=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.68933259_68933263dup, NC_000004.11:g.69798977_69798981dup, NT_167250.2:g.509278_509282dup, NT_167250.1:g.511228_511232dup

Select item 148920636319.

rs1489206363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68939626 (GRCh38)
4:69805344 (GRCh37)
Canonical SPDI:: NC_000004.12:68939625:C:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.68939626C>T, NC_000004.11:g.69805344C>T, NT_167250.2:g.515645C>T, NT_167250.1:g.517595C>T

Select item 148918509120.

rs1489185091 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 4:68945536 (GRCh38)
4:69811254 (GRCh37)
Canonical SPDI:: NC_000004.12:68945533:AAGAA:AA
Gene:: UGT2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000042/11 (TOPMED)
-=0.000043/6 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000004.12:g.68945536_68945538del, NC_000004.11:g.69811254_69811256del, NT_167250.2:g.521555_521557del, NT_167250.1:g.523505_523507del

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