SNP Links for Gene (Select 3718) - SNP

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Select item 14915449461.

rs1491544946 has merged into rs71164315 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:17839742 (GRCh38)
19:17950551 (GRCh37)
Canonical SPDI:: NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.17839742_17839757del, NC_000019.10:g.17839744_17839757del, NC_000019.10:g.17839745_17839757del, NC_000019.10:g.17839747_17839757del, NC_000019.10:g.17839749_17839757del, NC_000019.10:g.17839750_17839757del, NC_000019.10:g.17839751_17839757del, NC_000019.10:g.17839752_17839757del, NC_000019.10:g.17839753_17839757del, NC_000019.10:g.17839754_17839757del, NC_000019.10:g.17839755_17839757del, NC_000019.10:g.17839756_17839757del, NC_000019.10:g.17839757del, NC_000019.10:g.17839757dup, NC_000019.10:g.17839756_17839757dup, NC_000019.10:g.17839755_17839757dup, NC_000019.10:g.17839754_17839757dup, NC_000019.10:g.17839753_17839757dup, NC_000019.10:g.17839750_17839757dup, NC_000019.10:g.17839749_17839757dup, NC_000019.10:g.17839748_17839757dup, NC_000019.10:g.17839747_17839757dup, NC_000019.10:g.17839746_17839757dup, NC_000019.9:g.17950551_17950566del, NC_000019.9:g.17950553_17950566del, NC_000019.9:g.17950554_17950566del, NC_000019.9:g.17950556_17950566del, NC_000019.9:g.17950558_17950566del, NC_000019.9:g.17950559_17950566del, NC_000019.9:g.17950560_17950566del, NC_000019.9:g.17950561_17950566del, NC_000019.9:g.17950562_17950566del, NC_000019.9:g.17950563_17950566del, NC_000019.9:g.17950564_17950566del, NC_000019.9:g.17950565_17950566del, NC_000019.9:g.17950566del, NC_000019.9:g.17950566dup, NC_000019.9:g.17950565_17950566dup, NC_000019.9:g.17950564_17950566dup, NC_000019.9:g.17950563_17950566dup, NC_000019.9:g.17950562_17950566dup, NC_000019.9:g.17950559_17950566dup, NC_000019.9:g.17950558_17950566dup, NC_000019.9:g.17950557_17950566dup, NC_000019.9:g.17950556_17950566dup, NC_000019.9:g.17950555_17950566dup, NG_007273.1:g.13238_13253del, NG_007273.1:g.13240_13253del, NG_007273.1:g.13241_13253del, NG_007273.1:g.13243_13253del, NG_007273.1:g.13245_13253del, NG_007273.1:g.13246_13253del, NG_007273.1:g.13247_13253del, NG_007273.1:g.13248_13253del, NG_007273.1:g.13249_13253del, NG_007273.1:g.13250_13253del, NG_007273.1:g.13251_13253del, NG_007273.1:g.13252_13253del, NG_007273.1:g.13253del, NG_007273.1:g.13253dup, NG_007273.1:g.13252_13253dup, NG_007273.1:g.13251_13253dup, NG_007273.1:g.13250_13253dup, NG_007273.1:g.13249_13253dup, NG_007273.1:g.13246_13253dup, NG_007273.1:g.13245_13253dup, NG_007273.1:g.13244_13253dup, NG_007273.1:g.13243_13253dup, NG_007273.1:g.13242_13253dup

Select item 14914633002.

rs1491463300 has merged into rs564360773 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:17828229 (GRCh38)
19:17939038 (GRCh37)
Canonical SPDI:: NC_000019.10:17828227:TGT:T
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.17215/2042 (ALFA)
-=0.00215/1 (NorthernSweden)
-=0.0099/166 (TOMMO)
-=0.02308/1378 (GnomAD)
HGVS:: NC_000019.10:g.17828229_17828230del, NC_000019.9:g.17939038_17939039del, NG_007273.1:g.24763_24764del

Select item 14913172983.

rs1491317298 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:17840781 (GRCh38)
19:17951590 (GRCh37)
Canonical SPDI:: NC_000019.10:17840779:AGA:A
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17840781_17840782del, NC_000019.9:g.17951590_17951591del, NG_007273.1:g.12211_12212del

Select item 14912013974.

rs1491201397 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:17838733 (GRCh38)
19:17949542 (GRCh37)
Canonical SPDI:: NC_000019.10:17838732:TG:
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.17838733_17838734del, NC_000019.9:g.17949542_17949543del, NG_007273.1:g.14258_14259del

Select item 14910063855.

rs1491006385 has merged into rs35486965 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:17838725 (GRCh38)
19:17949534 (GRCh37)
Canonical SPDI:: NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000019.10:g.17838725_17838733del, NC_000019.10:g.17838726_17838733del, NC_000019.10:g.17838728_17838733del, NC_000019.10:g.17838729_17838733del, NC_000019.10:g.17838730_17838733del, NC_000019.10:g.17838731_17838733del, NC_000019.10:g.17838732_17838733del, NC_000019.10:g.17838733del, NC_000019.10:g.17838733dup, NC_000019.10:g.17838732_17838733dup, NC_000019.10:g.17838731_17838733dup, NC_000019.10:g.17838730_17838733dup, NC_000019.10:g.17838729_17838733dup, NC_000019.10:g.17838728_17838733dup, NC_000019.10:g.17838727_17838733dup, NC_000019.10:g.17838733_17838734insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.17949534_17949542del, NC_000019.9:g.17949535_17949542del, NC_000019.9:g.17949537_17949542del, NC_000019.9:g.17949538_17949542del, NC_000019.9:g.17949539_17949542del, NC_000019.9:g.17949540_17949542del, NC_000019.9:g.17949541_17949542del, NC_000019.9:g.17949542del, NC_000019.9:g.17949542dup, NC_000019.9:g.17949541_17949542dup, NC_000019.9:g.17949540_17949542dup, NC_000019.9:g.17949539_17949542dup, NC_000019.9:g.17949538_17949542dup, NC_000019.9:g.17949537_17949542dup, NC_000019.9:g.17949536_17949542dup, NC_000019.9:g.17949542_17949543insTTTTTTTTTTTTTTTTTTTTTT, NG_007273.1:g.14271_14279del, NG_007273.1:g.14272_14279del, NG_007273.1:g.14274_14279del, NG_007273.1:g.14275_14279del, NG_007273.1:g.14276_14279del, NG_007273.1:g.14277_14279del, NG_007273.1:g.14278_14279del, NG_007273.1:g.14279del, NG_007273.1:g.14279dup, NG_007273.1:g.14278_14279dup, NG_007273.1:g.14277_14279dup, NG_007273.1:g.14276_14279dup, NG_007273.1:g.14275_14279dup, NG_007273.1:g.14274_14279dup, NG_007273.1:g.14273_14279dup, NG_007273.1:g.14279_14280insAAAAAAAAAAAAAAAAAAAAAA

Select item 14907585546.

rs1490758554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:17842249 (GRCh38)
19:17953058 (GRCh37)
Canonical SPDI:: NC_000019.10:17842248:A:C
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00496/53 (ALFA)
C=0./0 (Korea1K)
C=0.02458/71 (KOREAN)
HGVS:: NC_000019.10:g.17842249A>C, NC_000019.9:g.17953058A>C, NG_007273.1:g.10743T>G

Select item 14907514227.

rs1490751422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17845655 (GRCh38)
19:17956464 (GRCh37)
Canonical SPDI:: NC_000019.10:17845654:A:G
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.17845655A>G, NC_000019.9:g.17956464A>G, NG_007273.1:g.7337T>C

Select item 14906967738.

rs1490696773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:17831147 (GRCh38)
19:17941956 (GRCh37)
Canonical SPDI:: NC_000019.10:17831146:G:C
Gene:: JAK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.17831147G>C, NC_000019.9:g.17941956G>C, NG_007273.1:g.21845C>G

Select item 14906755459.

rs1490675545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:17832594 (GRCh38)
19:17943403 (GRCh37)
Canonical SPDI:: NC_000019.10:17832593:G:A,NC_000019.10:17832593:G:C
Gene:: JAK3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000264/4 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000019.10:g.17832594G>A, NC_000019.10:g.17832594G>C, NC_000019.9:g.17943403G>A, NC_000019.9:g.17943403G>C, NG_007273.1:g.20398C>T, NG_007273.1:g.20398C>G, NM_000215.4:c.2605C>T, NM_000215.4:c.2605C>G, NM_000215.3:c.2605C>T, NM_000215.3:c.2605C>G, XM_047438786.1:c.2605C>T, XM_047438786.1:c.2605C>G, XR_007066796.1:n.2655C>T, XR_007066796.1:n.2655C>G, NP_000206.2:p.Gln869Ter, NP_000206.2:p.Gln869Glu, XP_047294742.1:p.Gln869Ter, XP_047294742.1:p.Gln869Glu

Select item 149065320210.

rs1490653202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17830176 (GRCh38)
19:17940985 (GRCh37)
Canonical SPDI:: NC_000019.10:17830175:G:A
Gene:: JAK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.17830176G>A, NC_000019.9:g.17940985G>A, NG_007273.1:g.22816C>T, NM_000215.4:c.3139C>T, NM_000215.3:c.3139C>T, XM_047438786.1:c.3139C>T, NP_000206.2:p.Leu1047Phe, XP_047294742.1:p.Leu1047Phe

Select item 149060280511.

rs1490602805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:17831705 (GRCh38)
19:17942514 (GRCh37)
Canonical SPDI:: NC_000019.10:17831704:C:A,NC_000019.10:17831704:C:G,NC_000019.10:17831704:C:T
Gene:: JAK3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.17831705C>A, NC_000019.10:g.17831705C>G, NC_000019.10:g.17831705C>T, NC_000019.9:g.17942514C>A, NC_000019.9:g.17942514C>G, NC_000019.9:g.17942514C>T, NG_007273.1:g.21287G>T, NG_007273.1:g.21287G>C, NG_007273.1:g.21287G>A, NM_000215.4:c.2774G>T, NM_000215.4:c.2774G>C, NM_000215.4:c.2774G>A, NM_000215.3:c.2774G>T, NM_000215.3:c.2774G>C, NM_000215.3:c.2774G>A, XM_047438786.1:c.2774G>T, XM_047438786.1:c.2774G>C, XM_047438786.1:c.2774G>A, NP_000206.2:p.Arg925Leu, NP_000206.2:p.Arg925Pro, NP_000206.2:p.Arg925His, XP_047294742.1:p.Arg925Leu, XP_047294742.1:p.Arg925Pro, XP_047294742.1:p.Arg925His

Select item 149053370512.

rs1490533705 has merged into rs1272641498 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 19:17830900 (GRCh38)
19:17941709 (GRCh37)
Canonical SPDI:: NC_000019.10:17830899:GGGGGG:GGGGG,NC_000019.10:17830899:GGGGGG:GGGGGGG
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.00006/1 (TOMMO)
-=0.00078/2 (GnomAD)
HGVS:: NC_000019.10:g.17830905del, NC_000019.10:g.17830905dup, NC_000019.9:g.17941714del, NC_000019.9:g.17941714dup, NG_007273.1:g.22092del, NG_007273.1:g.22092dup

Select item 149027373713.

rs1490273737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:17834609 (GRCh38)
19:17945418 (GRCh37)
Canonical SPDI:: NC_000019.10:17834608:C:G,NC_000019.10:17834608:C:T
Gene:: JAK3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000071/2 (TOMMO)
HGVS:: NC_000019.10:g.17834609C>G, NC_000019.10:g.17834609C>T, NC_000019.9:g.17945418C>G, NC_000019.9:g.17945418C>T, NG_007273.1:g.18383G>C, NG_007273.1:g.18383G>A, NM_000215.4:c.2312G>C, NM_000215.4:c.2312G>A, NM_000215.3:c.2312G>C, NM_000215.3:c.2312G>A, XM_047438786.1:c.2312G>C, XM_047438786.1:c.2312G>A, XR_007066796.1:n.2362G>C, XR_007066796.1:n.2362G>A, NP_000206.2:p.Arg771Pro, NP_000206.2:p.Arg771Gln, XP_047294742.1:p.Arg771Pro, XP_047294742.1:p.Arg771Gln

Select item 149021874014.

rs1490218740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17830836 (GRCh38)
19:17941645 (GRCh37)
Canonical SPDI:: NC_000019.10:17830835:G:A
Gene:: JAK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.17830836G>A, NC_000019.9:g.17941645G>A, NG_007273.1:g.22156C>T

Select item 149018341515.

rs1490183415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:17836019 (GRCh38)
19:17946828 (GRCh37)
Canonical SPDI:: NC_000019.10:17836018:C:G,NC_000019.10:17836018:C:T
Gene:: JAK3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17836019C>G, NC_000019.10:g.17836019C>T, NC_000019.9:g.17946828C>G, NC_000019.9:g.17946828C>T, NG_007273.1:g.16973G>C, NG_007273.1:g.16973G>A, NM_000215.4:c.1819G>C, NM_000215.4:c.1819G>A, NM_000215.3:c.1819G>C, NM_000215.3:c.1819G>A, XM_047438786.1:c.1819G>C, XM_047438786.1:c.1819G>A, XR_007066796.1:n.1869G>C, XR_007066796.1:n.1869G>A, NP_000206.2:p.Ala607Pro, NP_000206.2:p.Ala607Thr, XP_047294742.1:p.Ala607Pro, XP_047294742.1:p.Ala607Thr

Select item 149015740116.

rs1490157401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17842996 (GRCh38)
19:17953805 (GRCh37)
Canonical SPDI:: NC_000019.10:17842995:G:A
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17842996G>A, NC_000019.9:g.17953805G>A, NG_007273.1:g.9996C>T

Select item 149009903617.

rs1490099036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:17824417 (GRCh38)
19:17935226 (GRCh37)
Canonical SPDI:: NC_000019.10:17824416:G:A,NC_000019.10:17824416:G:C
Gene:: JAK3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.17824417G>A, NC_000019.10:g.17824417G>C, NC_000019.9:g.17935226G>A, NC_000019.9:g.17935226G>C, NG_007273.1:g.28575C>T, NG_007273.1:g.28575C>G, NG_012092.1:g.2095C>T, NG_012092.1:g.2095C>G

Select item 148996447218.

rs1489964472 has merged into rs35486965 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:17838725 (GRCh38)
19:17949534 (GRCh37)
Canonical SPDI:: NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17838712:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: JAK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000019.10:g.17838725_17838733del, NC_000019.10:g.17838726_17838733del, NC_000019.10:g.17838728_17838733del, NC_000019.10:g.17838729_17838733del, NC_000019.10:g.17838730_17838733del, NC_000019.10:g.17838731_17838733del, NC_000019.10:g.17838732_17838733del, NC_000019.10:g.17838733del, NC_000019.10:g.17838733dup, NC_000019.10:g.17838732_17838733dup, NC_000019.10:g.17838731_17838733dup, NC_000019.10:g.17838730_17838733dup, NC_000019.10:g.17838729_17838733dup, NC_000019.10:g.17838728_17838733dup, NC_000019.10:g.17838727_17838733dup, NC_000019.10:g.17838733_17838734insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.17949534_17949542del, NC_000019.9:g.17949535_17949542del, NC_000019.9:g.17949537_17949542del, NC_000019.9:g.17949538_17949542del, NC_000019.9:g.17949539_17949542del, NC_000019.9:g.17949540_17949542del, NC_000019.9:g.17949541_17949542del, NC_000019.9:g.17949542del, NC_000019.9:g.17949542dup, NC_000019.9:g.17949541_17949542dup, NC_000019.9:g.17949540_17949542dup, NC_000019.9:g.17949539_17949542dup, NC_000019.9:g.17949538_17949542dup, NC_000019.9:g.17949537_17949542dup, NC_000019.9:g.17949536_17949542dup, NC_000019.9:g.17949542_17949543insTTTTTTTTTTTTTTTTTTTTTT, NG_007273.1:g.14271_14279del, NG_007273.1:g.14272_14279del, NG_007273.1:g.14274_14279del, NG_007273.1:g.14275_14279del, NG_007273.1:g.14276_14279del, NG_007273.1:g.14277_14279del, NG_007273.1:g.14278_14279del, NG_007273.1:g.14279del, NG_007273.1:g.14279dup, NG_007273.1:g.14278_14279dup, NG_007273.1:g.14277_14279dup, NG_007273.1:g.14276_14279dup, NG_007273.1:g.14275_14279dup, NG_007273.1:g.14274_14279dup, NG_007273.1:g.14273_14279dup, NG_007273.1:g.14279_14280insAAAAAAAAAAAAAAAAAAAAAA

Select item 148990065119.

rs1489900651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17824899 (GRCh38)
19:17935708 (GRCh37)
Canonical SPDI:: NC_000019.10:17824898:C:T
Gene:: JAK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.17824899C>T, NC_000019.9:g.17935708C>T, NG_007273.1:g.28093G>A, NM_000215.4:c.*1844G>A, NM_000215.3:c.*1844G>A, NG_012092.1:g.1613G>A, XM_047438786.1:c.*1844G>A

Select item 148979963720.

rs1489799637 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:17830645 (GRCh38)
19:17941454 (GRCh37)
Canonical SPDI:: NC_000019.10:17830644:A:
Gene:: JAK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.17830645del, NC_000019.9:g.17941454del, NG_007273.1:g.22347del

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