SNP Links for Gene (Select 55236) - SNP

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Select item 14915781591.

rs1491578159 has merged into rs71269059 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 4:67665441 (GRCh38)
4:68531159 (GRCh37)
Canonical SPDI:: NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:67665431:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.025862/15 (NorthernSweden)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000004.12:g.67665441_67665446del, NC_000004.12:g.67665442_67665446del, NC_000004.12:g.67665443_67665446del, NC_000004.12:g.67665445_67665446del, NC_000004.12:g.67665446del, NC_000004.12:g.67665446dup, NC_000004.12:g.67665445_67665446dup, NC_000004.12:g.67665444_67665446dup, NC_000004.12:g.67665443_67665446dup, NC_000004.11:g.68531159_68531164del, NC_000004.11:g.68531160_68531164del, NC_000004.11:g.68531161_68531164del, NC_000004.11:g.68531163_68531164del, NC_000004.11:g.68531164del, NC_000004.11:g.68531164dup, NC_000004.11:g.68531163_68531164dup, NC_000004.11:g.68531162_68531164dup, NC_000004.11:g.68531161_68531164dup

Select item 14915751292.

rs1491575129 has merged into rs397878783 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:67676029 (GRCh38)
4:68541747 (GRCh37)
Canonical SPDI:: NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67676019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.67676029_67676040del, NC_000004.12:g.67676030_67676040del, NC_000004.12:g.67676031_67676040del, NC_000004.12:g.67676034_67676040del, NC_000004.12:g.67676035_67676040del, NC_000004.12:g.67676036_67676040del, NC_000004.12:g.67676037_67676040del, NC_000004.12:g.67676038_67676040del, NC_000004.12:g.67676039_67676040del, NC_000004.12:g.67676040del, NC_000004.12:g.67676040dup, NC_000004.12:g.67676039_67676040dup, NC_000004.12:g.67676038_67676040dup, NC_000004.12:g.67676037_67676040dup, NC_000004.12:g.67676036_67676040dup, NC_000004.12:g.67676035_67676040dup, NC_000004.12:g.67676034_67676040dup, NC_000004.12:g.67676033_67676040dup, NC_000004.12:g.67676020_67676040T[59]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.67676040_67676041insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.68541747_68541758del, NC_000004.11:g.68541748_68541758del, NC_000004.11:g.68541749_68541758del, NC_000004.11:g.68541752_68541758del, NC_000004.11:g.68541753_68541758del, NC_000004.11:g.68541754_68541758del, NC_000004.11:g.68541755_68541758del, NC_000004.11:g.68541756_68541758del, NC_000004.11:g.68541757_68541758del, NC_000004.11:g.68541758del, NC_000004.11:g.68541758dup, NC_000004.11:g.68541757_68541758dup, NC_000004.11:g.68541756_68541758dup, NC_000004.11:g.68541755_68541758dup, NC_000004.11:g.68541754_68541758dup, NC_000004.11:g.68541753_68541758dup, NC_000004.11:g.68541752_68541758dup, NC_000004.11:g.68541751_68541758dup, NC_000004.11:g.68541738_68541758T[59]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.68541758_68541759insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915435653.

rs1491543565 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:67673418 (GRCh38)
4:68539136 (GRCh37)
Canonical SPDI:: NC_000004.12:67673417:GA:
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.67673418_67673419del, NC_000004.11:g.68539136_68539137del

Select item 14915051284.

rs1491505128 has merged into rs71219066 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:67687045 (GRCh38)
4:68552763 (GRCh37)
Canonical SPDI:: NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:67687034:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TT=0.013378/8 (NorthernSweden)
HGVS:: NC_000004.12:g.67687045_67687053del, NC_000004.12:g.67687048_67687053del, NC_000004.12:g.67687050_67687053del, NC_000004.12:g.67687051_67687053del, NC_000004.12:g.67687052_67687053del, NC_000004.12:g.67687053del, NC_000004.12:g.67687053dup, NC_000004.12:g.67687052_67687053dup, NC_000004.12:g.67687051_67687053dup, NC_000004.12:g.67687050_67687053dup, NC_000004.12:g.67687049_67687053dup, NC_000004.12:g.67687047_67687053dup, NC_000004.12:g.67687046_67687053dup, NC_000004.11:g.68552763_68552771del, NC_000004.11:g.68552766_68552771del, NC_000004.11:g.68552768_68552771del, NC_000004.11:g.68552769_68552771del, NC_000004.11:g.68552770_68552771del, NC_000004.11:g.68552771del, NC_000004.11:g.68552771dup, NC_000004.11:g.68552770_68552771dup, NC_000004.11:g.68552769_68552771dup, NC_000004.11:g.68552768_68552771dup, NC_000004.11:g.68552767_68552771dup, NC_000004.11:g.68552765_68552771dup, NC_000004.11:g.68552764_68552771dup

Select item 14914941335.

rs1491494133 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTATTTTATATAGGAATATATAAAATACATGTATTTTATATAGGAATATATAAAATACCT [Show Flanks]
Chromosome:: 4:67659636 (GRCh38)
4:68525355 (GRCh37)
Canonical SPDI:: NC_000004.12:67659636:T:TGT,NC_000004.12:67659636:T:TGTATTTTATATAGGAATATATAAAATACATGTATTTTATATAGGAATATATAAAATACCT
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.001188/18 (ALFA)
TGTATTTTATATAGGAATATATAAAATACATGTATTTTATATAGGAATATATAAAATACC=0.000007/1 (GnomAD)
TG=0.001249/8 (1000Genomes)
TG=0.001876/31 (TOMMO)
TG=0.002729/5 (Korea1K)
TG=0.004018/18 (Estonian)
HGVS:: NC_000004.12:g.67659637_67659638insGT, NC_000004.12:g.67659637_67659638insGTATTTTATATAGGAATATATAAAATACATGTATTTTATATAGGAATATATAAAATACCT, NC_000004.11:g.68525355_68525356insGT, NC_000004.11:g.68525355_68525356insGTATTTTATATAGGAATATATAAAATACATGTATTTTATATAGGAATATATAAAATACCT

Select item 14914931236.

rs1491493123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:67623536 (GRCh38)
4:68489255 (GRCh37)
Canonical SPDI:: NC_000004.12:67623536:A:AA
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.67623537dup, NC_000004.11:g.68489255dup

Select item 14914526787.

rs1491452678 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:67687035 (GRCh38)
4:68552754 (GRCh37)
Canonical SPDI:: NC_000004.12:67687035::A
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.67687035_67687036insA, NC_000004.11:g.68552753_68552754insA

Select item 14914312738.

rs1491431273 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:67702689 (GRCh38)
4:68568407 (GRCh37)
Canonical SPDI:: NC_000004.12:67702688:CT:
Gene:: UBA6 (Varview), UBA6-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.67702689_67702690del, NC_000004.11:g.68568407_68568408del

Select item 14914280289.

rs1491428028 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:67676019 (GRCh38)
4:68541737 (GRCh37)
Canonical SPDI:: NC_000004.12:67676018:CT:
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000061/1 (ALFA)
-=0.00003/4 (GnomAD)
HGVS:: NC_000004.12:g.67676019_67676020del, NC_000004.11:g.68541737_68541738del

Select item 149138263810.

rs1491382638 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:67694283 (GRCh38)
4:68560001 (GRCh37)
Canonical SPDI:: NC_000004.12:67694282:CT:
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000142/4 (TOMMO)
-=0.000579/70 (GnomAD)
HGVS:: NC_000004.12:g.67694283_67694284del, NC_000004.11:g.68560001_68560002del

Select item 149128501911.

rs1491285019 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:67618056 (GRCh38)
4:68483774 (GRCh37)
Canonical SPDI:: NC_000004.12:67618052:ACACA:ACA
Gene:: UBA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.67618054CA[1], NC_000004.11:g.68483772CA[1], NM_018227.6:c.*941GT[1], NM_018227.5:c.*941GT[1], XM_017008359.3:c.*1002GT[1]

Select item 149120069012.

rs1491200690 has merged into rs869307131 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:67647680 (GRCh38)
4:68513398 (GRCh37)
Canonical SPDI:: NC_000004.12:67647679:CT:
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000023/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.67647680_67647681del, NC_000004.11:g.68513398_68513399del

Select item 149117976513.

rs1491179765 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:67665423 (GRCh38)
4:68531141 (GRCh37)
Canonical SPDI:: NC_000004.12:67665421:TGT:T
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.015933/189 (ALFA)
-=0.020926/2332 (GnomAD)
-=0.024542/91 (TWINSUK)
-=0.025/1 (GENOME_DK)
-=0.025428/98 (ALSPAC)
-=0.037945/243 (1000Genomes)
-=0.082419/1331 (TOMMO)
-=0.098744/173 (Korea1K)
HGVS:: NC_000004.12:g.67665423_67665424del, NC_000004.11:g.68531141_68531142del

Select item 149097660114.

rs1490976601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:67627804 (GRCh38)
4:68493522 (GRCh37)
Canonical SPDI:: NC_000004.12:67627803:T:C
Gene:: UBA6 (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.67627804T>C, NC_000004.11:g.68493522T>C

Select item 149096076415.

rs1490960764 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA [Show Flanks]
Chromosome:: 4:67696448 (GRCh38)
4:68562166 (GRCh37)
Canonical SPDI:: NC_000004.12:67696446:ACACA:A,NC_000004.12:67696446:ACACA:ACA
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000009/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.67696448_67696451del, NC_000004.12:g.67696448CA[1], NC_000004.11:g.68562166_68562169del, NC_000004.11:g.68562166CA[1]

Select item 149087930716.

rs1490879307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:67666637 (GRCh38)
4:68532355 (GRCh37)
Canonical SPDI:: NC_000004.12:67666636:C:A
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.67666637C>A, NC_000004.11:g.68532355C>A

Select item 149084388717.

rs1490843887 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 4:67649961 (GRCh38)
4:68515679 (GRCh37)
Canonical SPDI:: NC_000004.12:67649960:GG:
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.67649961_67649962del, NC_000004.11:g.68515679_68515680del

Select item 149078363518.

rs1490783635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:67673864 (GRCh38)
4:68539582 (GRCh37)
Canonical SPDI:: NC_000004.12:67673863:T:C
Gene:: UBA6 (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.67673864T>C, NC_000004.11:g.68539582T>C

Select item 149075730119.

rs1490757301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:67659041 (GRCh38)
4:68524759 (GRCh37)
Canonical SPDI:: NC_000004.12:67659040:T:C
Gene:: UBA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.67659041T>C, NC_000004.11:g.68524759T>C

Select item 149073888320.

rs1490738883 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

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