SNP Links for Gene (Select 53347) - SNP

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Select item 14915191211.

rs1491519121 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 21:42426836 (GRCh38)
21:43846945 (GRCh37)
Canonical SPDI:: NC_000021.9:42426835:CT:
Gene:: UBASH3A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000021.9:g.42426836_42426837del, NC_000021.8:g.43846945_43846946del, NG_029750.2:g.27975_27976del

Select item 14915169062.

rs1491516906 has merged into rs71190423 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:42417430 (GRCh38)
21:43837539 (GRCh37)
Canonical SPDI:: NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42417419:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBASH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.42417430_42417443del, NC_000021.9:g.42417431_42417443del, NC_000021.9:g.42417432_42417443del, NC_000021.9:g.42417433_42417443del, NC_000021.9:g.42417434_42417443del, NC_000021.9:g.42417435_42417443del, NC_000021.9:g.42417436_42417443del, NC_000021.9:g.42417437_42417443del, NC_000021.9:g.42417438_42417443del, NC_000021.9:g.42417439_42417443del, NC_000021.9:g.42417440_42417443del, NC_000021.9:g.42417441_42417443del, NC_000021.9:g.42417442_42417443del, NC_000021.9:g.42417443del, NC_000021.9:g.42417443dup, NC_000021.9:g.42417442_42417443dup, NC_000021.9:g.42417441_42417443dup, NC_000021.9:g.42417440_42417443dup, NC_000021.9:g.42417439_42417443dup, NC_000021.9:g.42417438_42417443dup, NC_000021.9:g.42417437_42417443dup, NC_000021.9:g.42417436_42417443dup, NC_000021.9:g.42417435_42417443dup, NC_000021.9:g.42417434_42417443dup, NC_000021.9:g.42417433_42417443dup, NC_000021.9:g.42417432_42417443dup, NC_000021.9:g.42417431_42417443dup, NC_000021.9:g.42417429_42417443dup, NC_000021.9:g.42417427_42417443dup, NC_000021.9:g.42417422_42417443dup, NC_000021.8:g.43837539_43837552del, NC_000021.8:g.43837540_43837552del, NC_000021.8:g.43837541_43837552del, NC_000021.8:g.43837542_43837552del, NC_000021.8:g.43837543_43837552del, NC_000021.8:g.43837544_43837552del, NC_000021.8:g.43837545_43837552del, NC_000021.8:g.43837546_43837552del, NC_000021.8:g.43837547_43837552del, NC_000021.8:g.43837548_43837552del, NC_000021.8:g.43837549_43837552del, NC_000021.8:g.43837550_43837552del, NC_000021.8:g.43837551_43837552del, NC_000021.8:g.43837552del, NC_000021.8:g.43837552dup, NC_000021.8:g.43837551_43837552dup, NC_000021.8:g.43837550_43837552dup, NC_000021.8:g.43837549_43837552dup, NC_000021.8:g.43837548_43837552dup, NC_000021.8:g.43837547_43837552dup, NC_000021.8:g.43837546_43837552dup, NC_000021.8:g.43837545_43837552dup, NC_000021.8:g.43837544_43837552dup, NC_000021.8:g.43837543_43837552dup, NC_000021.8:g.43837542_43837552dup, NC_000021.8:g.43837541_43837552dup, NC_000021.8:g.43837540_43837552dup, NC_000021.8:g.43837538_43837552dup, NC_000021.8:g.43837536_43837552dup, NC_000021.8:g.43837531_43837552dup, NG_029750.2:g.18569_18582del, NG_029750.2:g.18570_18582del, NG_029750.2:g.18571_18582del, NG_029750.2:g.18572_18582del, NG_029750.2:g.18573_18582del, NG_029750.2:g.18574_18582del, NG_029750.2:g.18575_18582del, NG_029750.2:g.18576_18582del, NG_029750.2:g.18577_18582del, NG_029750.2:g.18578_18582del, NG_029750.2:g.18579_18582del, NG_029750.2:g.18580_18582del, NG_029750.2:g.18581_18582del, NG_029750.2:g.18582del, NG_029750.2:g.18582dup, NG_029750.2:g.18581_18582dup, NG_029750.2:g.18580_18582dup, NG_029750.2:g.18579_18582dup, NG_029750.2:g.18578_18582dup, NG_029750.2:g.18577_18582dup, NG_029750.2:g.18576_18582dup, NG_029750.2:g.18575_18582dup, NG_029750.2:g.18574_18582dup, NG_029750.2:g.18573_18582dup, NG_029750.2:g.18572_18582dup, NG_029750.2:g.18571_18582dup, NG_029750.2:g.18570_18582dup, NG_029750.2:g.18568_18582dup, NG_029750.2:g.18566_18582dup, NG_029750.2:g.18561_18582dup, NG_045659.1:g.261_274del, NG_045659.1:g.262_274del, NG_045659.1:g.263_274del, NG_045659.1:g.264_274del, NG_045659.1:g.265_274del, NG_045659.1:g.266_274del, NG_045659.1:g.267_274del, NG_045659.1:g.268_274del, NG_045659.1:g.269_274del, NG_045659.1:g.270_274del, NG_045659.1:g.271_274del, NG_045659.1:g.272_274del, NG_045659.1:g.273_274del, NG_045659.1:g.274del, NG_045659.1:g.274dup, NG_045659.1:g.273_274dup, NG_045659.1:g.272_274dup, NG_045659.1:g.271_274dup, NG_045659.1:g.270_274dup, NG_045659.1:g.269_274dup, NG_045659.1:g.268_274dup, NG_045659.1:g.267_274dup, NG_045659.1:g.266_274dup, NG_045659.1:g.265_274dup, NG_045659.1:g.264_274dup, NG_045659.1:g.263_274dup, NG_045659.1:g.262_274dup, NG_045659.1:g.260_274dup, NG_045659.1:g.258_274dup, NG_045659.1:g.253_274dup

Select item 14914312433.

rs1491431243 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 21:42426836 (GRCh38)
21:43846946 (GRCh37)
Canonical SPDI:: NC_000021.9:42426836:TTTTTT:TTTTTTTTT
Gene:: UBASH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTT=0.000008/2 (GnomAD_exomes)
TTT=0.000021/3 (GnomAD)
TTT=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.42426840_42426842dup, NC_000021.8:g.43846949_43846951dup, NG_029750.2:g.27979_27981dup

Select item 14913929714.

rs1491392971 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 21:42412358 (GRCh38)
21:43832467 (GRCh37)
Canonical SPDI:: NC_000021.9:42412357:GGGGG:GGGG,NC_000021.9:42412357:GGGGG:GGGGGG
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42412362del, NC_000021.9:g.42412362dup, NC_000021.8:g.43832471del, NC_000021.8:g.43832471dup, NG_029750.2:g.13501del, NG_029750.2:g.13501dup

Select item 14913463375.

rs1491346337 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG,GGG [Show Flanks]
Chromosome:: 21:42405981 (GRCh38)
21:43826091 (GRCh37)
Canonical SPDI:: NC_000021.9:42405981:G:GGG,NC_000021.9:42405981:G:GGGG
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
GG=0.00008/2 (TOMMO)
HGVS:: NC_000021.9:g.42405982_42405983insGG, NC_000021.9:g.42405982_42405983insGGG, NC_000021.8:g.43826091_43826092insGG, NC_000021.8:g.43826091_43826092insGGG, NG_029750.2:g.7121_7122insGG, NG_029750.2:g.7121_7122insGGG

Select item 14913343146.

rs1491334314 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:42417419 (GRCh38)
21:43837528 (GRCh37)
Canonical SPDI:: NC_000021.9:42417418:CA:
Gene:: UBASH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01492/177 (ALFA)
-=0.00118/33 (TOMMO)
HGVS:: NC_000021.9:g.42417419_42417420del, NC_000021.8:g.43837528_43837529del, NG_029750.2:g.18558_18559del, NG_045659.1:g.274_275del

Select item 14912471707.

rs1491247170 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAAATAAA [Show Flanks]
Chromosome:: 21:42408899 (GRCh38)
21:43829009 (GRCh37)
Canonical SPDI:: NC_000021.9:42408899:AAATAAAATAAA:AAATAAAATAAATAAAATAAA
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAATAAAATAAATAAAATAAA=0./0 (ALFA)
AAATAAAAT=0.00003/3 (GnomAD)
HGVS:: NC_000021.9:g.42408903_42408911dup, NC_000021.8:g.43829012_43829020dup, NG_029750.2:g.10042_10050dup

Select item 14911907368.

rs1491190736 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 21:42405981 (GRCh38)
21:43826090 (GRCh37)
Canonical SPDI:: NC_000021.9:42405980:AG:
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.42405981_42405982del, NC_000021.8:g.43826090_43826091del, NG_029750.2:g.7120_7121del

Select item 14911582799.

rs1491158279 has merged into rs71190422 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 21:42405994 (GRCh38)
21:43826103 (GRCh37)
Canonical SPDI:: NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000021.9:g.42405994_42405997del, NC_000021.9:g.42405995_42405997del, NC_000021.9:g.42405996_42405997del, NC_000021.9:g.42405997del, NC_000021.9:g.42405997dup, NC_000021.9:g.42405996_42405997dup, NC_000021.9:g.42405995_42405997dup, NC_000021.8:g.43826103_43826106del, NC_000021.8:g.43826104_43826106del, NC_000021.8:g.43826105_43826106del, NC_000021.8:g.43826106del, NC_000021.8:g.43826106dup, NC_000021.8:g.43826105_43826106dup, NC_000021.8:g.43826104_43826106dup, NG_029750.2:g.7133_7136del, NG_029750.2:g.7134_7136del, NG_029750.2:g.7135_7136del, NG_029750.2:g.7136del, NG_029750.2:g.7136dup, NG_029750.2:g.7135_7136dup, NG_029750.2:g.7134_7136dup

Select item 149115753710.

rs1491157537 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 21:42412357 (GRCh38)
21:43832466 (GRCh37)
Canonical SPDI:: NC_000021.9:42412356:AG:
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000071/1 (TOMMO)
HGVS:: NC_000021.9:g.42412357_42412358del, NC_000021.8:g.43832466_43832467del, NG_029750.2:g.13496_13497del

Select item 149115097511.

rs1491150975 has merged into rs71190422 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 21:42405994 (GRCh38)
21:43826103 (GRCh37)
Canonical SPDI:: NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000021.9:42405983:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000021.9:g.42405994_42405997del, NC_000021.9:g.42405995_42405997del, NC_000021.9:g.42405996_42405997del, NC_000021.9:g.42405997del, NC_000021.9:g.42405997dup, NC_000021.9:g.42405996_42405997dup, NC_000021.9:g.42405995_42405997dup, NC_000021.8:g.43826103_43826106del, NC_000021.8:g.43826104_43826106del, NC_000021.8:g.43826105_43826106del, NC_000021.8:g.43826106del, NC_000021.8:g.43826106dup, NC_000021.8:g.43826105_43826106dup, NC_000021.8:g.43826104_43826106dup, NG_029750.2:g.7133_7136del, NG_029750.2:g.7134_7136del, NG_029750.2:g.7135_7136del, NG_029750.2:g.7136del, NG_029750.2:g.7136dup, NG_029750.2:g.7135_7136dup, NG_029750.2:g.7134_7136dup

Select item 149088376712.

rs1490883767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42414289 (GRCh38)
21:43834398 (GRCh37)
Canonical SPDI:: NC_000021.9:42414288:T:C
Gene:: UBASH3A (Varview)
Functional Consequence:: 5_prime_UTR_variant,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_000021.9:g.42414289T>C, NC_000021.8:g.43834398T>C, NG_029750.2:g.15428T>C, XM_047440840.1:c.-2169T>C

Select item 149067626513.

rs1490676265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42420339 (GRCh38)
21:43840448 (GRCh37)
Canonical SPDI:: NC_000021.9:42420338:A:G
Gene:: UBASH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42420339A>G, NC_000021.8:g.43840448A>G, NG_029750.2:g.21478A>G

Select item 149061853114.

rs1490618531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:42405600 (GRCh38)
21:43825709 (GRCh37)
Canonical SPDI:: NC_000021.9:42405599:G:T
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42405600G>T, NC_000021.8:g.43825709G>T, NG_029750.2:g.6739G>T

Select item 149060137015.

rs1490601370 [Homo sapiens]

Variant type:: DEL
Alleles:: CTGC>- [Show Flanks]
Chromosome:: 21:42407451 (GRCh38)
21:43827560 (GRCh37)
Canonical SPDI:: NC_000021.9:42407450:CTGC:
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.42407451_42407454del, NC_000021.8:g.43827560_43827563del, NG_029750.2:g.8590_8593del

Select item 149056016916.

rs1490560169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:42439986 (GRCh38)
21:43860096 (GRCh37)
Canonical SPDI:: NC_000021.9:42439985:C:A,NC_000021.9:42439985:C:T
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.42439986C>A, NC_000021.9:g.42439986C>T, NC_000021.8:g.43860096C>A, NC_000021.8:g.43860096C>T, NG_029750.2:g.41125C>A, NG_029750.2:g.41125C>T, XM_047440838.1:c.*2118C>A, XM_047440838.1:c.*2118C>T, XM_047440839.1:c.*2140C>A, XM_047440839.1:c.*2140C>T

Select item 149031961417.

rs1490319614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42420461 (GRCh38)
21:43840570 (GRCh37)
Canonical SPDI:: NC_000021.9:42420460:G:A
Gene:: UBASH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.42420461G>A, NC_000021.8:g.43840570G>A, NG_029750.2:g.21600G>A

Select item 149023241218.

rs1490232412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42435773 (GRCh38)
21:43855883 (GRCh37)
Canonical SPDI:: NC_000021.9:42435772:A:G
Gene:: UBASH3A (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_000021.9:g.42435773A>G, NC_000021.8:g.43855883A>G, NG_029750.2:g.36912A>G

Select item 149011090719.

rs1490110907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 21:42428059 (GRCh38)
21:43848168 (GRCh37)
Canonical SPDI:: NC_000021.9:42428058:G:C,NC_000021.9:42428058:G:T
Gene:: UBASH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
T=0./0 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.42428059G>C, NC_000021.9:g.42428059G>T, NC_000021.8:g.43848168G>C, NC_000021.8:g.43848168G>T, NG_029750.2:g.29198G>C, NG_029750.2:g.29198G>T

Select item 149007164220.

rs1490071642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42440893 (GRCh38)
21:43861003 (GRCh37)
Canonical SPDI:: NC_000021.9:42440892:C:T
Gene:: UBASH3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0004/2 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000021.9:g.42440893C>T, NC_000021.8:g.43861003C>T, NG_029750.2:g.42032C>T

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