SNP Links for Gene (Select 7371) - SNP

Links from Gene

Items: 1 to 20 of 19089

<< First< Prev

Page of 955

Next >Last >>

Select item 14915056391.

rs1491505639 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA,TAAAGTAA,TGAA [Show Flanks]
Chromosome:: 1:165854643 (GRCh38)
1:165823881 (GRCh37)
Canonical SPDI:: NC_000001.11:165854643:AA:AATAA,NC_000001.11:165854643:AA:AATAAAGTAA,NC_000001.11:165854643:AA:AATGAA
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAAAGTAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.165854645_165854646insTAA, NC_000001.11:g.165854645_165854646insTAAAGTAA, NC_000001.11:g.165854645_165854646insTGAA, NC_000001.10:g.165823882_165823883insTAA, NC_000001.10:g.165823882_165823883insTAAAGTAA, NC_000001.10:g.165823882_165823883insTGAA

Select item 14914881782.

rs1491488178 has merged into rs373561365 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:165853365 (GRCh38)
1:165822602 (GRCh37)
Canonical SPDI:: NC_000001.11:165853356:TTTTTTTTTTT:TTTTTTTT,NC_000001.11:165853356:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:165853356:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:165853356:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:165853356:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.05/30 (NorthernSweden)
-=0.05791/290 (1000Genomes)
-=0.0623/231 (TWINSUK)
-=0.07213/278 (ALSPAC)
-=0.07214/72 (GoNL)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000001.11:g.165853365_165853367del, NC_000001.11:g.165853366_165853367del, NC_000001.11:g.165853367del, NC_000001.11:g.165853367dup, NC_000001.11:g.165853366_165853367dup, NC_000001.10:g.165822602_165822604del, NC_000001.10:g.165822603_165822604del, NC_000001.10:g.165822604del, NC_000001.10:g.165822604dup, NC_000001.10:g.165822603_165822604dup

Select item 14914616343.

rs1491461634 has merged into rs869079437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:165880588 (GRCh38)
1:165849825 (GRCh37)
Canonical SPDI:: NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:165880566:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.165880568TG[10], NC_000001.11:g.165880568TG[14], NC_000001.11:g.165880568TG[15], NC_000001.11:g.165880568TG[16], NC_000001.11:g.165880568TG[18], NC_000001.11:g.165880568TG[19], NC_000001.11:g.165880568TG[20], NC_000001.11:g.165880568TG[21], NC_000001.11:g.165880568TG[22], NC_000001.11:g.165880568TG[23], NC_000001.11:g.165880568TG[25], NC_000001.11:g.165880568TG[26], NC_000001.11:g.165880568TG[27], NC_000001.10:g.165849805TG[10], NC_000001.10:g.165849805TG[14], NC_000001.10:g.165849805TG[15], NC_000001.10:g.165849805TG[16], NC_000001.10:g.165849805TG[18], NC_000001.10:g.165849805TG[19], NC_000001.10:g.165849805TG[20], NC_000001.10:g.165849805TG[21], NC_000001.10:g.165849805TG[22], NC_000001.10:g.165849805TG[23], NC_000001.10:g.165849805TG[25], NC_000001.10:g.165849805TG[26], NC_000001.10:g.165849805TG[27]

Select item 14914522974.

rs1491452297 has merged into rs71100867 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:165869671 (GRCh38)
1:165838908 (GRCh37)
Canonical SPDI:: NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:165869659:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.4089/2048 (1000Genomes)
HGVS:: NC_000001.11:g.165869671_165869682del, NC_000001.11:g.165869672_165869682del, NC_000001.11:g.165869673_165869682del, NC_000001.11:g.165869674_165869682del, NC_000001.11:g.165869675_165869682del, NC_000001.11:g.165869677_165869682del, NC_000001.11:g.165869679_165869682del, NC_000001.11:g.165869680_165869682del, NC_000001.11:g.165869681_165869682del, NC_000001.11:g.165869682del, NC_000001.11:g.165869682dup, NC_000001.11:g.165869681_165869682dup, NC_000001.11:g.165869680_165869682dup, NC_000001.11:g.165869679_165869682dup, NC_000001.11:g.165869678_165869682dup, NC_000001.11:g.165869677_165869682dup, NC_000001.11:g.165869676_165869682dup, NC_000001.11:g.165869675_165869682dup, NC_000001.11:g.165869674_165869682dup, NC_000001.11:g.165869682_165869683insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.165838908_165838919del, NC_000001.10:g.165838909_165838919del, NC_000001.10:g.165838910_165838919del, NC_000001.10:g.165838911_165838919del, NC_000001.10:g.165838912_165838919del, NC_000001.10:g.165838914_165838919del, NC_000001.10:g.165838916_165838919del, NC_000001.10:g.165838917_165838919del, NC_000001.10:g.165838918_165838919del, NC_000001.10:g.165838919del, NC_000001.10:g.165838919dup, NC_000001.10:g.165838918_165838919dup, NC_000001.10:g.165838917_165838919dup, NC_000001.10:g.165838916_165838919dup, NC_000001.10:g.165838915_165838919dup, NC_000001.10:g.165838914_165838919dup, NC_000001.10:g.165838913_165838919dup, NC_000001.10:g.165838912_165838919dup, NC_000001.10:g.165838911_165838919dup, NC_000001.10:g.165838919_165838920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914025095.

rs1491402509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGGGCCTT [Show Flanks]
Chromosome:: 1:165869660 (GRCh38)
1:165838898 (GRCh37)
Canonical SPDI:: NC_000001.11:165869660:TT:TTATGGGCCTT
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATGGGCCTT=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.165869662_165869663insATGGGCCTT, NC_000001.10:g.165838899_165838900insATGGGCCTT

Select item 14913523676.

rs1491352367 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:165888983 (GRCh38)
1:165858220 (GRCh37)
Canonical SPDI:: NC_000001.11:165888982:AG:
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.165888983_165888984del, NC_000001.10:g.165858220_165858221del

Select item 14912409687.

rs1491240968 has merged into rs56886913 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:165881192 (GRCh38)
1:165850429 (GRCh37)
Canonical SPDI:: NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165881182:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.165881192_165881206del, NC_000001.11:g.165881193_165881206del, NC_000001.11:g.165881195_165881206del, NC_000001.11:g.165881197_165881206del, NC_000001.11:g.165881198_165881206del, NC_000001.11:g.165881199_165881206del, NC_000001.11:g.165881200_165881206del, NC_000001.11:g.165881201_165881206del, NC_000001.11:g.165881202_165881206del, NC_000001.11:g.165881203_165881206del, NC_000001.11:g.165881204_165881206del, NC_000001.11:g.165881205_165881206del, NC_000001.11:g.165881206del, NC_000001.11:g.165881206dup, NC_000001.11:g.165881205_165881206dup, NC_000001.11:g.165881204_165881206dup, NC_000001.11:g.165881203_165881206dup, NC_000001.11:g.165881202_165881206dup, NC_000001.11:g.165881201_165881206dup, NC_000001.11:g.165881200_165881206dup, NC_000001.11:g.165881199_165881206dup, NC_000001.11:g.165881198_165881206dup, NC_000001.11:g.165881197_165881206dup, NC_000001.11:g.165881196_165881206dup, NC_000001.11:g.165881195_165881206dup, NC_000001.11:g.165881206_165881207insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.165850429_165850443del, NC_000001.10:g.165850430_165850443del, NC_000001.10:g.165850432_165850443del, NC_000001.10:g.165850434_165850443del, NC_000001.10:g.165850435_165850443del, NC_000001.10:g.165850436_165850443del, NC_000001.10:g.165850437_165850443del, NC_000001.10:g.165850438_165850443del, NC_000001.10:g.165850439_165850443del, NC_000001.10:g.165850440_165850443del, NC_000001.10:g.165850441_165850443del, NC_000001.10:g.165850442_165850443del, NC_000001.10:g.165850443del, NC_000001.10:g.165850443dup, NC_000001.10:g.165850442_165850443dup, NC_000001.10:g.165850441_165850443dup, NC_000001.10:g.165850440_165850443dup, NC_000001.10:g.165850439_165850443dup, NC_000001.10:g.165850438_165850443dup, NC_000001.10:g.165850437_165850443dup, NC_000001.10:g.165850436_165850443dup, NC_000001.10:g.165850435_165850443dup, NC_000001.10:g.165850434_165850443dup, NC_000001.10:g.165850433_165850443dup, NC_000001.10:g.165850432_165850443dup, NC_000001.10:g.165850443_165850444insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911362728.

rs1491136272 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 1:165841135 (GRCh38)
1:165810372 (GRCh37)
Canonical SPDI:: NC_000001.11:165841132:AAAA:AA,NC_000001.11:165841132:AAAA:AAAAAA
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.165841135_165841136del, NC_000001.11:g.165841135_165841136dup, NC_000001.10:g.165810372_165810373del, NC_000001.10:g.165810372_165810373dup

Select item 14910444449.

rs1491044444 has merged into rs1226698543 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 1:165881207 (GRCh38)
1:165850444 (GRCh37)
Canonical SPDI:: NC_000001.11:165881205:AGAGA:A,NC_000001.11:165881205:AGAGA:AGA
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.165881207_165881210del, NC_000001.11:g.165881207GA[1], NC_000001.10:g.165850444_165850447del, NC_000001.10:g.165850444GA[1]

Select item 149102315210.

rs1491023152 has merged into rs34440554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:165856419 (GRCh38)
1:165825656 (GRCh37)
Canonical SPDI:: NC_000001.11:165856406:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:165856406:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:165856406:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:165856406:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:165856406:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:165856406:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.24561/1230 (1000Genomes)
T=0.35/14 (GENOME_DK)
HGVS:: NC_000001.11:g.165856419_165856420del, NC_000001.11:g.165856420del, NC_000001.11:g.165856420dup, NC_000001.11:g.165856419_165856420dup, NC_000001.11:g.165856418_165856420dup, NC_000001.11:g.165856415_165856420dup, NC_000001.10:g.165825656_165825657del, NC_000001.10:g.165825657del, NC_000001.10:g.165825657dup, NC_000001.10:g.165825656_165825657dup, NC_000001.10:g.165825655_165825657dup, NC_000001.10:g.165825652_165825657dup

Select item 149101270611.

rs1491012706 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:165888644 (GRCh38)
1:165857882 (GRCh37)
Canonical SPDI:: NC_000001.11:165888644::C
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00067/8 (ALFA)
C=0.00093/15 (TOMMO)
HGVS:: NC_000001.11:g.165888644_165888645insC, NC_000001.10:g.165857881_165857882insC

Select item 149096745112.

rs1490967451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:165844832 (GRCh38)
1:165814069 (GRCh37)
Canonical SPDI:: NC_000001.11:165844831:C:G
Gene:: UCK2 (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_000001.11:g.165844832C>G, NC_000001.10:g.165814069C>G

Select item 149096024413.

rs1490960244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:165861369 (GRCh38)
1:165830606 (GRCh37)
Canonical SPDI:: NC_000001.11:165861368:C:T
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.165861369C>T, NC_000001.10:g.165830606C>T

Select item 149092224214.

rs1490922242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:165899659 (GRCh38)
1:165868896 (GRCh37)
Canonical SPDI:: NC_000001.11:165899658:C:T
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165899659C>T, NC_000001.10:g.165868896C>T, NG_082224.1:g.1239C>T

Select item 149091284215.

rs1490912842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:165830612 (GRCh38)
1:165799849 (GRCh37)
Canonical SPDI:: NC_000001.11:165830611:A:T
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.165830612A>T, NC_000001.10:g.165799849A>T

Select item 149089776116.

rs1490897761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:165828414 (GRCh38)
1:165797651 (GRCh37)
Canonical SPDI:: NC_000001.11:165828413:G:A,NC_000001.11:165828413:G:T
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165828414G>A, NC_000001.11:g.165828414G>T, NC_000001.10:g.165797651G>A, NC_000001.10:g.165797651G>T

Select item 149087218317.

rs1490872183 has merged into rs1189359393 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>-,GTTGTT [Show Flanks]
Chromosome:: 1:165829427 (GRCh38)
1:165798664 (GRCh37)
Canonical SPDI:: NC_000001.11:165829415:TTGTTGTTGTTGTT:TTGTTGTTGTT,NC_000001.11:165829415:TTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTT
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTGTTGTT=0.00005/1 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00022/1 (Estonian)
-=0.00055/1 (Korea1K)
TTG=0.00062/4 (1000Genomes)
HGVS:: NC_000001.11:g.165829418GTT[3], NC_000001.11:g.165829418GTT[5], NC_000001.10:g.165798655GTT[3], NC_000001.10:g.165798655GTT[5]

Select item 149087035318.

rs1490870353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:165900513 (GRCh38)
1:165869750 (GRCh37)
Canonical SPDI:: NC_000001.11:165900512:C:A
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165900513C>A, NC_000001.10:g.165869750C>A

Select item 149084769019.

rs1490847690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:165830367 (GRCh38)
1:165799604 (GRCh37)
Canonical SPDI:: NC_000001.11:165830366:C:T
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.165830367C>T, NC_000001.10:g.165799604C>T

Select item 149082121420.

rs1490821214 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:165868938 (GRCh38)
1:165838175 (GRCh37)
Canonical SPDI:: NC_000001.11:165868936:TCT:T
Gene:: UCK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165868938_165868939del, NC_000001.10:g.165838175_165838176del

<< First< Prev

Page of 955

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 19089

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity