SNP Links for Gene (Select 406893) - SNP

Links from Gene

Items: 1 to 20 of 542

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Select item 14907022341.

rs1490702234 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 1:65059008 (GRCh38)
1:65524691 (GRCh37)
Canonical SPDI:: NC_000001.11:65059005:CAAACA:CA
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65059008_65059011del, NC_000001.10:g.65524691_65524694del, NG_023402.2:g.13738_13741del

Select item 14905906452.

rs1490590645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:65059354 (GRCh38)
1:65525037 (GRCh37)
Canonical SPDI:: NC_000001.11:65059353:T:C
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
C=0.000389/7 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.65059354T>C, NC_000001.10:g.65525037T>C, NG_023402.2:g.13393A>G

Select item 14898805463.

rs1489880546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65059453 (GRCh38)
1:65525136 (GRCh37)
Canonical SPDI:: NC_000001.11:65059452:A:G
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.65059453A>G, NC_000001.10:g.65525136A>G, NG_023402.2:g.13294T>C

Select item 14893274794.

rs1489327479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:65059407 (GRCh38)
1:65525090 (GRCh37)
Canonical SPDI:: NC_000001.11:65059406:T:A
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65059407T>A, NC_000001.10:g.65525090T>A, NG_023402.2:g.13340A>T

Select item 14883669115.

rs1488366911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:65059034 (GRCh38)
1:65524717 (GRCh37)
Canonical SPDI:: NC_000001.11:65059033:T:C
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.65059034T>C, NC_000001.10:g.65524717T>C, NG_023402.2:g.13713A>G

Select item 14870288536.

rs1487028853 has merged into rs1216056251 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:65057941 (GRCh38)
1:65523624 (GRCh37)
Canonical SPDI:: NC_000001.11:65057940:TTTTTTT:TTTTTT,NC_000001.11:65057940:TTTTTTT:TTTTTTTT
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.65057947del, NC_000001.11:g.65057947dup, NC_000001.10:g.65523630del, NC_000001.10:g.65523630dup, NG_023402.2:g.14806del, NG_023402.2:g.14806dup

Select item 14856926967.

rs1485692696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:65059461 (GRCh38)
1:65525144 (GRCh37)
Canonical SPDI:: NC_000001.11:65059460:C:A
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.65059461C>A, NC_000001.10:g.65525144C>A, NG_023402.2:g.13286G>T

Select item 14841328998.

rs1484132899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:65060436 (GRCh38)
1:65526119 (GRCh37)
Canonical SPDI:: NC_000001.11:65060435:T:C
Gene:: JAK1 (Varview), MIR101-1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.65060436T>C, NC_000001.10:g.65526119T>C, NG_023402.2:g.12311A>G

Select item 14831005209.

rs1483100520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:65059966 (GRCh38)
1:65525649 (GRCh37)
Canonical SPDI:: NC_000001.11:65059965:T:C,NC_000001.11:65059965:T:G
Gene:: JAK1 (Varview), MIR101-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.65059966T>C, NC_000001.11:g.65059966T>G, NC_000001.10:g.65525649T>C, NC_000001.10:g.65525649T>G, NG_023402.2:g.12781A>G, NG_023402.2:g.12781A>C

Select item 148194211510.

rs1481942115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65059307 (GRCh38)
1:65524990 (GRCh37)
Canonical SPDI:: NC_000001.11:65059306:A:G
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.65059307A>G, NC_000001.10:g.65524990A>G, NG_023402.2:g.13440T>C

Select item 148188979811.

rs1481889798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65058164 (GRCh38)
1:65523847 (GRCh37)
Canonical SPDI:: NC_000001.11:65058163:A:G
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.65058164A>G, NC_000001.10:g.65523847A>G, NG_023402.2:g.14583T>C

Select item 148141762812.

rs1481417628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:65059057 (GRCh38)
1:65524740 (GRCh37)
Canonical SPDI:: NC_000001.11:65059056:C:A,NC_000001.11:65059056:C:T
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65059057C>A, NC_000001.11:g.65059057C>T, NC_000001.10:g.65524740C>A, NC_000001.10:g.65524740C>T, NG_023402.2:g.13690G>T, NG_023402.2:g.13690G>A

Select item 148086751813.

rs1480867518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:65059087 (GRCh38)
1:65524770 (GRCh37)
Canonical SPDI:: NC_000001.11:65059086:T:C
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65059087T>C, NC_000001.10:g.65524770T>C, NG_023402.2:g.13660A>G

Select item 147879826914.

rs1478798269 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:65059142 (GRCh38)
1:65524825 (GRCh37)
Canonical SPDI:: NC_000001.11:65059141:C:
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00043/7 (ALFA)
HGVS:: NC_000001.11:g.65059142del, NC_000001.10:g.65524825del, NG_023402.2:g.13605del

Select item 147878530415.

rs1478785304 has merged into rs58391330 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 1:65060144 (GRCh38)
1:65525827 (GRCh37)
Canonical SPDI:: NC_000001.11:65060134:AAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:65060134:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:65060134:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:65060134:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: JAK1 (Varview), MIR101-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.05818/245 (1000Genomes)
-=0.06014/223 (TWINSUK)
-=0.06072/234 (ALSPAC)
HGVS:: NC_000001.11:g.65060144_65060146del, NC_000001.11:g.65060145_65060146del, NC_000001.11:g.65060146del, NC_000001.11:g.65060146dup, NC_000001.10:g.65525827_65525829del, NC_000001.10:g.65525828_65525829del, NC_000001.10:g.65525829del, NC_000001.10:g.65525829dup, NG_023402.2:g.12610_12612del, NG_023402.2:g.12611_12612del, NG_023402.2:g.12612del, NG_023402.2:g.12612dup

Select item 147662267216.

rs1476622672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65058038 (GRCh38)
1:65523721 (GRCh37)
Canonical SPDI:: NC_000001.11:65058037:C:T
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00025/4 (TOMMO)
T=0.00103/3 (KOREAN)
HGVS:: NC_000001.11:g.65058038C>T, NC_000001.10:g.65523721C>T, NG_023402.2:g.14709G>A

Select item 147651749517.

rs1476517495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:65060356 (GRCh38)
1:65526039 (GRCh37)
Canonical SPDI:: NC_000001.11:65060355:A:G
Gene:: JAK1 (Varview), MIR101-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.65060356A>G, NC_000001.10:g.65526039A>G, NG_023402.2:g.12391T>C

Select item 147606080918.

rs1476060809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65058042 (GRCh38)
1:65523725 (GRCh37)
Canonical SPDI:: NC_000001.11:65058041:C:T
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.65058042C>T, NC_000001.10:g.65523725C>T, NG_023402.2:g.14705G>A

Select item 147579635719.

rs1475796357 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:65058719 (GRCh38)
1:65524402 (GRCh37)
Canonical SPDI:: NC_000001.11:65058718:AT:
Gene:: JAK1 (Varview), MIR101-1 (Varview), MIR3671 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.65058719_65058720del, NC_000001.10:g.65524402_65524403del, NG_023402.2:g.14027_14028del

Select item 147424827620.

rs1474248276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:65060221 (GRCh38)
1:65525904 (GRCh37)
Canonical SPDI:: NC_000001.11:65060220:C:T
Gene:: JAK1 (Varview), MIR101-1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.65060221C>T, NC_000001.10:g.65525904C>T, NG_023402.2:g.12526G>A

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