SNP Links for Gene (Select 7326) - SNP

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Select item 14915869791.

rs1491586979 has merged into rs199545492 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 17:4357518 (GRCh38)
17:4260813 (GRCh37)
Canonical SPDI:: NC_000017.11:4357508:GGGGGGGGGGGG:GGGGGGGGG,NC_000017.11:4357508:GGGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:4357508:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:4357508:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:4357508:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:4357508:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:4357508:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.4357518_4357520del, NC_000017.11:g.4357519_4357520del, NC_000017.11:g.4357520del, NC_000017.11:g.4357520dup, NC_000017.11:g.4357519_4357520dup, NC_000017.11:g.4357518_4357520dup, NC_000017.11:g.4357516_4357520dup, NC_000017.10:g.4260813_4260815del, NC_000017.10:g.4260814_4260815del, NC_000017.10:g.4260815del, NC_000017.10:g.4260815dup, NC_000017.10:g.4260814_4260815dup, NC_000017.10:g.4260813_4260815dup, NC_000017.10:g.4260811_4260815dup

Select item 14915715942.

rs1491571594 has merged into rs56962666 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:4329119 (GRCh38)
17:4232414 (GRCh37)
Canonical SPDI:: NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4329109:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.4329119_4329131del, NC_000017.11:g.4329120_4329131del, NC_000017.11:g.4329121_4329131del, NC_000017.11:g.4329122_4329131del, NC_000017.11:g.4329123_4329131del, NC_000017.11:g.4329124_4329131del, NC_000017.11:g.4329125_4329131del, NC_000017.11:g.4329126_4329131del, NC_000017.11:g.4329127_4329131del, NC_000017.11:g.4329128_4329131del, NC_000017.11:g.4329129_4329131del, NC_000017.11:g.4329130_4329131del, NC_000017.11:g.4329131del, NC_000017.11:g.4329131dup, NC_000017.11:g.4329130_4329131dup, NC_000017.11:g.4329129_4329131dup, NC_000017.11:g.4329128_4329131dup, NC_000017.11:g.4329127_4329131dup, NC_000017.11:g.4329126_4329131dup, NC_000017.11:g.4329125_4329131dup, NC_000017.11:g.4329124_4329131dup, NC_000017.11:g.4329123_4329131dup, NC_000017.11:g.4329122_4329131dup, NC_000017.11:g.4329117_4329131dup, NC_000017.11:g.4329114_4329131dup, NC_000017.11:g.4329112_4329131dup, NC_000017.11:g.4329131_4329132insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.4329131_4329132insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.4329131_4329132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.4329131_4329132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.4232414_4232426del, NC_000017.10:g.4232415_4232426del, NC_000017.10:g.4232416_4232426del, NC_000017.10:g.4232417_4232426del, NC_000017.10:g.4232418_4232426del, NC_000017.10:g.4232419_4232426del, NC_000017.10:g.4232420_4232426del, NC_000017.10:g.4232421_4232426del, NC_000017.10:g.4232422_4232426del, NC_000017.10:g.4232423_4232426del, NC_000017.10:g.4232424_4232426del, NC_000017.10:g.4232425_4232426del, NC_000017.10:g.4232426del, NC_000017.10:g.4232426dup, NC_000017.10:g.4232425_4232426dup, NC_000017.10:g.4232424_4232426dup, NC_000017.10:g.4232423_4232426dup, NC_000017.10:g.4232422_4232426dup, NC_000017.10:g.4232421_4232426dup, NC_000017.10:g.4232420_4232426dup, NC_000017.10:g.4232419_4232426dup, NC_000017.10:g.4232418_4232426dup, NC_000017.10:g.4232417_4232426dup, NC_000017.10:g.4232412_4232426dup, NC_000017.10:g.4232409_4232426dup, NC_000017.10:g.4232407_4232426dup, NC_000017.10:g.4232426_4232427insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.4232426_4232427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.4232426_4232427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.4232426_4232427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915517813.

rs1491551781 has merged into rs58462791 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:4312706 (GRCh38)
17:4216001 (GRCh37)
Canonical SPDI:: NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4312695:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.1294/648 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000017.11:g.4312706_4312715del, NC_000017.11:g.4312707_4312715del, NC_000017.11:g.4312708_4312715del, NC_000017.11:g.4312712_4312715del, NC_000017.11:g.4312713_4312715del, NC_000017.11:g.4312714_4312715del, NC_000017.11:g.4312715del, NC_000017.11:g.4312715dup, NC_000017.11:g.4312714_4312715dup, NC_000017.11:g.4312713_4312715dup, NC_000017.11:g.4312712_4312715dup, NC_000017.11:g.4312711_4312715dup, NC_000017.11:g.4312710_4312715dup, NC_000017.11:g.4312709_4312715dup, NC_000017.11:g.4312708_4312715dup, NC_000017.11:g.4312707_4312715dup, NC_000017.11:g.4312696_4312715A[24]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.4216001_4216010del, NC_000017.10:g.4216002_4216010del, NC_000017.10:g.4216003_4216010del, NC_000017.10:g.4216007_4216010del, NC_000017.10:g.4216008_4216010del, NC_000017.10:g.4216009_4216010del, NC_000017.10:g.4216010del, NC_000017.10:g.4216010dup, NC_000017.10:g.4216009_4216010dup, NC_000017.10:g.4216008_4216010dup, NC_000017.10:g.4216007_4216010dup, NC_000017.10:g.4216006_4216010dup, NC_000017.10:g.4216005_4216010dup, NC_000017.10:g.4216004_4216010dup, NC_000017.10:g.4216003_4216010dup, NC_000017.10:g.4216002_4216010dup, NC_000017.10:g.4215991_4216010A[24]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915294844.

rs1491529484 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:4316937 (GRCh38)
17:4220233 (GRCh37)
Canonical SPDI:: NC_000017.11:4316937:T:TT
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00031/2 (1000Genomes)
T=0.00111/47 (GnomAD)
HGVS:: NC_000017.11:g.4316938dup, NC_000017.10:g.4220233dup

Select item 14914912455.

rs1491491245 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:4356049 (GRCh38)
17:4259344 (GRCh37)
Canonical SPDI:: NC_000017.11:4356048:TA:
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4356049_4356050del, NC_000017.10:g.4259344_4259345del

Select item 14914139646.

rs1491413964 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCT [Show Flanks]
Chromosome:: 17:4364292 (GRCh38)
17:4267588 (GRCh37)
Canonical SPDI:: NC_000017.11:4364292:CT:CTCCT
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCCT=0./0 (ALFA)
HGVS:: NC_000017.11:g.4364294_4364295insCCT, NC_000017.10:g.4267589_4267590insCCT, NG_045545.1:g.261_262insGAG

Select item 14913935477.

rs1491393547 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 17:4343596 (GRCh38)
17:4246892 (GRCh37)
Canonical SPDI:: NC_000017.11:4343596:TTT:TTTCTTT
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0.000422/5 (ALFA)
TTTC=0.000363/96 (TOPMED)
TTTC=0.000917/41 (GnomAD)
HGVS:: NC_000017.11:g.4343599_4343600insCTTT, NC_000017.10:g.4246894_4246895insCTTT

Select item 14913705368.

rs1491370536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:4316938 (GRCh38)
17:4220233 (GRCh37)
Canonical SPDI:: NC_000017.11:4316936:ATA:A
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00051/6 (ALFA)
-=0.0009/20 (GnomAD)
HGVS:: NC_000017.11:g.4316938_4316939del, NC_000017.10:g.4220233_4220234del

Select item 14913526709.

rs1491352670 [Homo sapiens]

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

Select item 149133343810.

rs1491333438 has merged into rs34313850 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:4290790 (GRCh38)
17:4194085 (GRCh37)
Canonical SPDI:: NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:4290779:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TT=0.0737/369 (1000Genomes)
HGVS:: NC_000017.11:g.4290790_4290798del, NC_000017.11:g.4290792_4290798del, NC_000017.11:g.4290793_4290798del, NC_000017.11:g.4290794_4290798del, NC_000017.11:g.4290795_4290798del, NC_000017.11:g.4290796_4290798del, NC_000017.11:g.4290797_4290798del, NC_000017.11:g.4290798del, NC_000017.11:g.4290798dup, NC_000017.11:g.4290797_4290798dup, NC_000017.11:g.4290796_4290798dup, NC_000017.10:g.4194085_4194093del, NC_000017.10:g.4194087_4194093del, NC_000017.10:g.4194088_4194093del, NC_000017.10:g.4194089_4194093del, NC_000017.10:g.4194090_4194093del, NC_000017.10:g.4194091_4194093del, NC_000017.10:g.4194092_4194093del, NC_000017.10:g.4194093del, NC_000017.10:g.4194093dup, NC_000017.10:g.4194092_4194093dup, NC_000017.10:g.4194091_4194093dup

Select item 149130358811.

rs1491303588 has merged into rs71832912 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT [Show Flanks]
Chromosome:: 17:4313641 (GRCh38)
17:4216936 (GRCh37)
Canonical SPDI:: NC_000017.11:4313625:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000017.11:4313625:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000017.11:4313625:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000017.11:4313625:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:4313625:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:4313625:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
TC=0.02167/13 (NorthernSweden)
TC=0.02236/112 (1000Genomes)
HGVS:: NC_000017.11:g.4313627CT[7], NC_000017.11:g.4313627CT[8], NC_000017.11:g.4313627CT[10], NC_000017.11:g.4313627CT[11], NC_000017.11:g.4313627CT[12], NC_000017.11:g.4313627CT[13], NC_000017.10:g.4216922CT[7], NC_000017.10:g.4216922CT[8], NC_000017.10:g.4216922CT[10], NC_000017.10:g.4216922CT[11], NC_000017.10:g.4216922CT[12], NC_000017.10:g.4216922CT[13]

Select item 149129608912.

rs1491296089 has merged into rs111670323 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 17:4343605 (GRCh38)
17:4246900 (GRCh37)
Canonical SPDI:: NC_000017.11:4343595:TTTTTTTTTTT:TTTTTTTTT,NC_000017.11:4343595:TTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:4343595:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
-=0.2783/167 (NorthernSweden)
-=0.3128/1160 (TWINSUK)
-=0.33/1272 (ALSPAC)
-=0.3537/353 (GoNL)
HGVS:: NC_000017.11:g.4343605_4343606del, NC_000017.11:g.4343606del, NC_000017.11:g.4343606dup, NC_000017.10:g.4246900_4246901del, NC_000017.10:g.4246901del, NC_000017.10:g.4246901dup

Select item 149129440213.

rs1491294402 has merged into rs538222115 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAAAA [Show Flanks]
Chromosome:: 17:4359873 (GRCh38)
17:4263168 (GRCh37)
Canonical SPDI:: NC_000017.11:4359872:AAAAAAAAA:AAAAAAAA,NC_000017.11:4359872:AAAAAAAAA:AAAAAAAAAA,NC_000017.11:4359872:AAAAAAAAA:AAAAAAAAAAAAA
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000076/20 (TOPMED)
-=0.000285/5 (TOMMO)
A=0.221246/1108 (1000Genomes)
HGVS:: NC_000017.11:g.4359881del, NC_000017.11:g.4359881dup, NC_000017.11:g.4359878_4359881dup, NC_000017.10:g.4263176del, NC_000017.10:g.4263176dup, NC_000017.10:g.4263173_4263176dup

Select item 149127909814.

rs1491279098 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:4364372 (GRCh38)
17:4267667 (GRCh37)
Canonical SPDI:: NC_000017.11:4364371:AT:
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.18268/2167 (ALFA)
HGVS:: NC_000017.11:g.4364372_4364373del, NC_000017.10:g.4267667_4267668del, NG_045545.1:g.181_182del

Select item 149127518715.

rs1491275187 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:4284838 (GRCh38)
17:4188133 (GRCh37)
Canonical SPDI:: NC_000017.11:4284836:TCT:T
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.4284838_4284839del, NC_000017.10:g.4188133_4188134del

Select item 149126624916.

rs1491266249 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:4307713 (GRCh38)
17:4211008 (GRCh37)
Canonical SPDI:: NC_000017.11:4307712:TG:
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000107/15 (GnomAD)
-=0.000295/78 (TOPMED)
-=0.333333/2 (1000Genomes)
HGVS:: NC_000017.11:g.4307713_4307714del, NC_000017.10:g.4211008_4211009del

Select item 149125025617.

rs1491250256 has merged into rs10593474 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:4279286 (GRCh38)
17:4182581 (GRCh37)
Canonical SPDI:: NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4279275:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1637/820 (1000Genomes)
HGVS:: NC_000017.11:g.4279286_4279292del, NC_000017.11:g.4279288_4279292del, NC_000017.11:g.4279289_4279292del, NC_000017.11:g.4279290_4279292del, NC_000017.11:g.4279291_4279292del, NC_000017.11:g.4279292del, NC_000017.11:g.4279292dup, NC_000017.11:g.4279291_4279292dup, NC_000017.11:g.4279289_4279292dup, NC_000017.11:g.4279288_4279292dup, NC_000017.11:g.4279287_4279292dup, NC_000017.10:g.4182581_4182587del, NC_000017.10:g.4182583_4182587del, NC_000017.10:g.4182584_4182587del, NC_000017.10:g.4182585_4182587del, NC_000017.10:g.4182586_4182587del, NC_000017.10:g.4182587del, NC_000017.10:g.4182587dup, NC_000017.10:g.4182586_4182587dup, NC_000017.10:g.4182584_4182587dup, NC_000017.10:g.4182583_4182587dup, NC_000017.10:g.4182582_4182587dup

Select item 149120544318.

rs1491205443 has merged into rs35054040 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:4292328 (GRCh38)
17:4195623 (GRCh37)
Canonical SPDI:: NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4292314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1625/814 (1000Genomes)
HGVS:: NC_000017.11:g.4292328_4292333del, NC_000017.11:g.4292330_4292333del, NC_000017.11:g.4292331_4292333del, NC_000017.11:g.4292332_4292333del, NC_000017.11:g.4292333del, NC_000017.11:g.4292333dup, NC_000017.11:g.4292332_4292333dup, NC_000017.11:g.4292331_4292333dup, NC_000017.11:g.4292330_4292333dup, NC_000017.10:g.4195623_4195628del, NC_000017.10:g.4195625_4195628del, NC_000017.10:g.4195626_4195628del, NC_000017.10:g.4195627_4195628del, NC_000017.10:g.4195628del, NC_000017.10:g.4195628dup, NC_000017.10:g.4195627_4195628dup, NC_000017.10:g.4195626_4195628dup, NC_000017.10:g.4195625_4195628dup

Select item 149118110819.

rs1491181108 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T,TGT [Show Flanks]
Chromosome:: 17:4357509 (GRCh38)
17:4260805 (GRCh37)
Canonical SPDI:: NC_000017.11:4357509::C,NC_000017.11:4357509::T,NC_000017.11:4357509::TGT
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.4357509_4357510insC, NC_000017.11:g.4357509_4357510insT, NC_000017.11:g.4357509_4357510insTGT, NC_000017.10:g.4260804_4260805insC, NC_000017.10:g.4260804_4260805insT, NC_000017.10:g.4260804_4260805insTGT

Select item 149117210420.

rs1491172104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:4300086 (GRCh38)
17:4203382 (GRCh37)
Canonical SPDI:: NC_000017.11:4300086:C:CC
Gene:: UBE2G1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000154/3 (GnomAD)
HGVS:: NC_000017.11:g.4300087dup, NC_000017.10:g.4203382dup

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