SNP Links for Gene (Select 152789) - SNP

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Select item 14915802301.

rs1491580230 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:6073078 (GRCh38)
4:6074806 (GRCh37)
Canonical SPDI:: NC_000004.12:6073078::C
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00006/3 (GnomAD)
HGVS:: NC_000004.12:g.6073078_6073079insC, NC_000004.11:g.6074805_6074806insC

Select item 14915798832.

rs1491579883 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TACATATATATATATATATATACA,TATACA,TATATACA,TATATATACA,TATATATATACA,TATATATATATATATACA,TATATATATATATATATATATACA,TATATATATATATATATATATATATATACA [Show Flanks]
Chromosome:: 4:6152809 (GRCh38)
4:6154537 (GRCh37)
Canonical SPDI:: NC_000004.12:6152809:A:ATACA,NC_000004.12:6152809:A:ATACATATATATATATATATATACA,NC_000004.12:6152809:A:ATATACA,NC_000004.12:6152809:A:ATATATACA,NC_000004.12:6152809:A:ATATATATACA,NC_000004.12:6152809:A:ATATATATATACA,NC_000004.12:6152809:A:ATATATATATATATATACA,NC_000004.12:6152809:A:ATATATATATATATATATATATACA,NC_000004.12:6152809:A:ATATATATATATATATATATATATATATACA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACATATATATATATATATATACA=0./0 (ALFA)
HGVS:: NC_000004.12:g.6152810_6152811insTACA, NC_000004.12:g.6152810_6152811insTACATATATATATATATATATACA, NC_000004.12:g.6152810AT[2]ACA[1], NC_000004.12:g.6152810AT[3]ACA[1], NC_000004.12:g.6152810AT[4]ACA[1], NC_000004.12:g.6152810AT[5]ACA[1], NC_000004.12:g.6152810AT[8]ACA[1], NC_000004.12:g.6152810AT[11]ACA[1], NC_000004.12:g.6152810AT[14]ACA[1], NC_000004.11:g.6154537_6154538insTACA, NC_000004.11:g.6154537_6154538insTACATATATATATATATATATACA, NC_000004.11:g.6154537AT[2]ACA[1], NC_000004.11:g.6154537AT[3]ACA[1], NC_000004.11:g.6154537AT[4]ACA[1], NC_000004.11:g.6154537AT[5]ACA[1], NC_000004.11:g.6154537AT[8]ACA[1], NC_000004.11:g.6154537AT[11]ACA[1], NC_000004.11:g.6154537AT[14]ACA[1]

Select item 14915650373.

rs1491565037 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:6098684 (GRCh38)
4:6100411 (GRCh37)
Canonical SPDI:: NC_000004.12:6098682:AGA:A
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00129/14 (TOMMO)
-=0.00639/8 (Korea1K)
HGVS:: NC_000004.12:g.6098684_6098685del, NC_000004.11:g.6100411_6100412del

Select item 14915535314.

rs1491553531 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAGAAAGAAAGAGAAG [Show Flanks]
Chromosome:: 4:6098721 (GRCh38)
4:6100449 (GRCh37)
Canonical SPDI:: NC_000004.12:6098721:AAAAGAAAGAAAGAGAAG:AAAAGAAAGAAAGAGAAGAAAAGAAAGAAAGAGAAG
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.6098722_6098739dup, NC_000004.11:g.6100449_6100466dup

Select item 14915434825.

rs1491543482 has merged into rs56678982 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:6182422 (GRCh38)
4:6184149 (GRCh37)
Canonical SPDI:: NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6182410:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.6182422_6182426del, NC_000004.12:g.6182423_6182426del, NC_000004.12:g.6182424_6182426del, NC_000004.12:g.6182425_6182426del, NC_000004.12:g.6182426del, NC_000004.12:g.6182426dup, NC_000004.12:g.6182425_6182426dup, NC_000004.12:g.6182424_6182426dup, NC_000004.12:g.6182423_6182426dup, NC_000004.12:g.6182422_6182426dup, NC_000004.12:g.6182421_6182426dup, NC_000004.12:g.6182420_6182426dup, NC_000004.12:g.6182419_6182426dup, NC_000004.12:g.6182418_6182426dup, NC_000004.12:g.6182416_6182426dup, NC_000004.12:g.6182415_6182426dup, NC_000004.12:g.6182414_6182426dup, NC_000004.11:g.6184149_6184153del, NC_000004.11:g.6184150_6184153del, NC_000004.11:g.6184151_6184153del, NC_000004.11:g.6184152_6184153del, NC_000004.11:g.6184153del, NC_000004.11:g.6184153dup, NC_000004.11:g.6184152_6184153dup, NC_000004.11:g.6184151_6184153dup, NC_000004.11:g.6184150_6184153dup, NC_000004.11:g.6184149_6184153dup, NC_000004.11:g.6184148_6184153dup, NC_000004.11:g.6184147_6184153dup, NC_000004.11:g.6184146_6184153dup, NC_000004.11:g.6184145_6184153dup, NC_000004.11:g.6184143_6184153dup, NC_000004.11:g.6184142_6184153dup, NC_000004.11:g.6184141_6184153dup

Select item 14915396036.

rs1491539603 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:6125953 (GRCh38)
4:6127680 (GRCh37)
Canonical SPDI:: NC_000004.12:6125952:GC:
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0002/3 (TOMMO)
HGVS:: NC_000004.12:g.6125953_6125954del, NC_000004.11:g.6127680_6127681del

Select item 14914964037.

rs1491496403 [Homo sapiens]

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

Select item 14914840798.

rs1491484079 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:6069752 (GRCh38)
4:6071479 (GRCh37)
Canonical SPDI:: NC_000004.12:6069751:CA:
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00152/18 (ALFA)
-=0.00007/2 (TOMMO)
-=0.1548/574 (TWINSUK)
-=0.16165/623 (ALSPAC)
HGVS:: NC_000004.12:g.6069752_6069753del, NC_000004.11:g.6071479_6071480del

Select item 14914813429.

rs1491481342 has merged into rs33992158 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:6159525 (GRCh38)
4:6161252 (GRCh37)
Canonical SPDI:: NC_000004.12:6159516:AAAAAAAAAA:AAAAAAAA,NC_000004.12:6159516:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:6159516:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:6159516:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.0002/1 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (TWINSUK)
A=0.0022/10 (Estonian)
A=0.0712/352 (1000Genomes)
HGVS:: NC_000004.12:g.6159525_6159526del, NC_000004.12:g.6159526del, NC_000004.12:g.6159526dup, NC_000004.12:g.6159525_6159526dup, NC_000004.11:g.6161252_6161253del, NC_000004.11:g.6161253del, NC_000004.11:g.6161253dup, NC_000004.11:g.6161252_6161253dup

Select item 149146985310.

rs1491469853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:6182409 (GRCh38)
4:6184137 (GRCh37)
Canonical SPDI:: NC_000004.12:6182409:G:GG
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000004.12:g.6182410dup, NC_000004.11:g.6184137dup

Select item 149135567511.

rs1491355675 has merged into rs5855900 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 4:6073089 (GRCh38)
4:6074816 (GRCh37)
Canonical SPDI:: NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6073077:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3986/1996 (1000Genomes)
HGVS:: NC_000004.12:g.6073089_6073097del, NC_000004.12:g.6073093_6073097del, NC_000004.12:g.6073094_6073097del, NC_000004.12:g.6073095_6073097del, NC_000004.12:g.6073096_6073097del, NC_000004.12:g.6073097del, NC_000004.12:g.6073097dup, NC_000004.12:g.6073096_6073097dup, NC_000004.11:g.6074816_6074824del, NC_000004.11:g.6074820_6074824del, NC_000004.11:g.6074821_6074824del, NC_000004.11:g.6074822_6074824del, NC_000004.11:g.6074823_6074824del, NC_000004.11:g.6074824del, NC_000004.11:g.6074824dup, NC_000004.11:g.6074823_6074824dup

Select item 149135539612.

rs1491355396 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:6098683 (GRCh38)
4:6100411 (GRCh37)
Canonical SPDI:: NC_000004.12:6098683:G:GG
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000004.12:g.6098684dup, NC_000004.11:g.6100411dup

Select item 149133733613.

rs1491337336 has merged into rs34129127 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 4:6131380 (GRCh38)
4:6133107 (GRCh37)
Canonical SPDI:: NC_000004.12:6131366:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6131366:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:6131366:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:6131366:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:6131366:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6131366:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6131366:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.225/9 (GENOME_DK)
HGVS:: NC_000004.12:g.6131380_6131381del, NC_000004.12:g.6131381del, NC_000004.12:g.6131381dup, NC_000004.12:g.6131380_6131381dup, NC_000004.12:g.6131379_6131381dup, NC_000004.12:g.6131378_6131381dup, NC_000004.12:g.6131377_6131381dup, NC_000004.11:g.6133107_6133108del, NC_000004.11:g.6133108del, NC_000004.11:g.6133108dup, NC_000004.11:g.6133107_6133108dup, NC_000004.11:g.6133106_6133108dup, NC_000004.11:g.6133105_6133108dup, NC_000004.11:g.6133104_6133108dup

Select item 149132594314.

rs1491325943 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:6182410 (GRCh38)
4:6184137 (GRCh37)
Canonical SPDI:: NC_000004.12:6182408:AGA:A
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.6182410_6182411del, NC_000004.11:g.6184137_6184138del

Select item 149131525615.

rs1491315256 has merged into rs11370537 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 4:6120192 (GRCh38)
4:6121919 (GRCh37)
Canonical SPDI:: NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:6120180:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4315/2161 (1000Genomes)
HGVS:: NC_000004.12:g.6120192_6120195del, NC_000004.12:g.6120193_6120195del, NC_000004.12:g.6120194_6120195del, NC_000004.12:g.6120195del, NC_000004.12:g.6120195dup, NC_000004.12:g.6120194_6120195dup, NC_000004.12:g.6120193_6120195dup, NC_000004.12:g.6120192_6120195dup, NC_000004.11:g.6121919_6121922del, NC_000004.11:g.6121920_6121922del, NC_000004.11:g.6121921_6121922del, NC_000004.11:g.6121922del, NC_000004.11:g.6121922dup, NC_000004.11:g.6121921_6121922dup, NC_000004.11:g.6121920_6121922dup, NC_000004.11:g.6121919_6121922dup

Select item 149131452616.

rs1491314526 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:6159516 (GRCh38)
4:6161243 (GRCh37)
Canonical SPDI:: NC_000004.12:6159515:GA:
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/1 (GnomAD)
HGVS:: NC_000004.12:g.6159516_6159517del, NC_000004.11:g.6161243_6161244del

Select item 149130457717.

rs1491304577 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATATAT [Show Flanks]
Chromosome:: 4:6152790 (GRCh38)
4:6154518 (GRCh37)
Canonical SPDI:: NC_000004.12:6152790:TATATATATAT:TATATATATATGTATATATATAT
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATATATATGTATATATATAT=0./0 (ALFA)
TATATATATATG=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.6152791_6152801TA[5]TGTATATATATAT[1], NC_000004.11:g.6154518_6154528TA[5]TGTATATATATAT[1]

Select item 149127385318.

rs1491273853 has merged into rs56832267 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:6069764 (GRCh38)
4:6071491 (GRCh37)
Canonical SPDI:: NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2282/1143 (1000Genomes)
AA=0.4/16 (GENOME_DK)
-=0.4229/236 (NorthernSweden)
HGVS:: NC_000004.12:g.6069764_6069769del, NC_000004.12:g.6069765_6069769del, NC_000004.12:g.6069766_6069769del, NC_000004.12:g.6069767_6069769del, NC_000004.12:g.6069768_6069769del, NC_000004.12:g.6069769del, NC_000004.12:g.6069769dup, NC_000004.12:g.6069768_6069769dup, NC_000004.12:g.6069767_6069769dup, NC_000004.12:g.6069766_6069769dup, NC_000004.12:g.6069765_6069769dup, NC_000004.12:g.6069763_6069769dup, NC_000004.11:g.6071491_6071496del, NC_000004.11:g.6071492_6071496del, NC_000004.11:g.6071493_6071496del, NC_000004.11:g.6071494_6071496del, NC_000004.11:g.6071495_6071496del, NC_000004.11:g.6071496del, NC_000004.11:g.6071496dup, NC_000004.11:g.6071495_6071496dup, NC_000004.11:g.6071494_6071496dup, NC_000004.11:g.6071493_6071496dup, NC_000004.11:g.6071492_6071496dup, NC_000004.11:g.6071490_6071496dup

Select item 149116804319.

rs1491168043 has merged into rs773327045 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA [Show Flanks]
Chromosome:: 4:6098702 (GRCh38)
4:6100429 (GRCh37)
Canonical SPDI:: NC_000004.12:6098700:AAA:A,NC_000004.12:6098700:AAA:AAAA,NC_000004.12:6098700:AAA:AAAAA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.6098702_6098703del, NC_000004.12:g.6098703dup, NC_000004.12:g.6098702_6098703dup, NC_000004.11:g.6100429_6100430del, NC_000004.11:g.6100430dup, NC_000004.11:g.6100429_6100430dup

Select item 149116534920.

rs1491165349 has merged into rs56832267 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:6069764 (GRCh38)
4:6071491 (GRCh37)
Canonical SPDI:: NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6069752:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: JAKMIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2282/1143 (1000Genomes)
AA=0.4/16 (GENOME_DK)
-=0.4229/236 (NorthernSweden)
HGVS:: NC_000004.12:g.6069764_6069769del, NC_000004.12:g.6069765_6069769del, NC_000004.12:g.6069766_6069769del, NC_000004.12:g.6069767_6069769del, NC_000004.12:g.6069768_6069769del, NC_000004.12:g.6069769del, NC_000004.12:g.6069769dup, NC_000004.12:g.6069768_6069769dup, NC_000004.12:g.6069767_6069769dup, NC_000004.12:g.6069766_6069769dup, NC_000004.12:g.6069765_6069769dup, NC_000004.12:g.6069763_6069769dup, NC_000004.11:g.6071491_6071496del, NC_000004.11:g.6071492_6071496del, NC_000004.11:g.6071493_6071496del, NC_000004.11:g.6071494_6071496del, NC_000004.11:g.6071495_6071496del, NC_000004.11:g.6071496del, NC_000004.11:g.6071496dup, NC_000004.11:g.6071495_6071496dup, NC_000004.11:g.6071494_6071496dup, NC_000004.11:g.6071493_6071496dup, NC_000004.11:g.6071492_6071496dup, NC_000004.11:g.6071490_6071496dup

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