SNP Links for Gene (Select 80122) - SNP

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Select item 14915851701.

rs1491585170 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:135027346 (GRCh38)
2:135784917 (GRCh37)
Canonical SPDI:: NC_000002.12:135027346::G
Gene:: MAP3K19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.135027346_135027347insG, NC_000002.11:g.135784916_135784917insG

Select item 14915205142.

rs1491520514 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:134978189 (GRCh38)
2:135735759 (GRCh37)
Canonical SPDI:: NC_000002.12:134978188:AT:
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000069/9 (GnomAD)
-=0.000212/4 (TOMMO)
HGVS:: NC_000002.12:g.134978189_134978190del, NC_000002.11:g.135735759_135735760del

Select item 14915101693.

rs1491510169 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:135013326 (GRCh38)
2:135770896 (GRCh37)
Canonical SPDI:: NC_000002.12:135013324:AGA:A
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00051/6 (ALFA)
-=0.00035/6 (TOMMO)
-=0.00089/81 (GnomAD)
HGVS:: NC_000002.12:g.135013326_135013327del, NC_000002.11:g.135770896_135770897del

Select item 14914418964.

rs1491441896 has merged into rs113734947 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 2:134978202 (GRCh38)
2:135735772 (GRCh37)
Canonical SPDI:: NC_000002.12:134978189:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:134978189:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:134978189:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:134978189:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:134978189:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:134978189:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.095/57 (NorthernSweden)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000002.12:g.134978202_134978204del, NC_000002.12:g.134978203_134978204del, NC_000002.12:g.134978204del, NC_000002.12:g.134978204dup, NC_000002.12:g.134978203_134978204dup, NC_000002.12:g.134978197_134978204dup, NC_000002.11:g.135735772_135735774del, NC_000002.11:g.135735773_135735774del, NC_000002.11:g.135735774del, NC_000002.11:g.135735774dup, NC_000002.11:g.135735773_135735774dup, NC_000002.11:g.135735767_135735774dup

Select item 14914094405.

rs1491409440 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:135027347 (GRCh38)
2:135784917 (GRCh37)
Canonical SPDI:: NC_000002.12:135027345:AAA:A
Gene:: MAP3K19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000174/3 (TOMMO)
-=0.000272/32 (GnomAD)
HGVS:: NC_000002.12:g.135027347_135027348del, NC_000002.11:g.135784917_135784918del

Select item 14913479606.

rs1491347960 has merged into rs10556788 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 2:135002624 (GRCh38)
2:135760194 (GRCh37)
Canonical SPDI:: NC_000002.12:135002613:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:135002613:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:135002613:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135002613:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.012088/22 (Korea1K)
HGVS:: NC_000002.12:g.135002624_135002625del, NC_000002.12:g.135002625del, NC_000002.12:g.135002625dup, NC_000002.12:g.135002624_135002625dup, NC_000002.11:g.135760194_135760195del, NC_000002.11:g.135760195del, NC_000002.11:g.135760195dup, NC_000002.11:g.135760194_135760195dup

Select item 14913320427.

rs1491332042 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:135013325 (GRCh38)
2:135770896 (GRCh37)
Canonical SPDI:: NC_000002.12:135013325:G:GG
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00643/585 (GnomAD)
HGVS:: NC_000002.12:g.135013326dup, NC_000002.11:g.135770896dup

Select item 14910399408.

rs1491039940 has merged into rs369837575 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:134977057 (GRCh38)
2:135734627 (GRCh37)
Canonical SPDI:: NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:134977047:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AA=0.008681/5 (NorthernSweden)
HGVS:: NC_000002.12:g.134977057_134977067del, NC_000002.12:g.134977060_134977067del, NC_000002.12:g.134977061_134977067del, NC_000002.12:g.134977063_134977067del, NC_000002.12:g.134977065_134977067del, NC_000002.12:g.134977066_134977067del, NC_000002.12:g.134977067del, NC_000002.12:g.134977067dup, NC_000002.12:g.134977066_134977067dup, NC_000002.12:g.134977065_134977067dup, NC_000002.12:g.134977064_134977067dup, NC_000002.12:g.134977063_134977067dup, NC_000002.12:g.134977062_134977067dup, NC_000002.11:g.135734627_135734637del, NC_000002.11:g.135734630_135734637del, NC_000002.11:g.135734631_135734637del, NC_000002.11:g.135734633_135734637del, NC_000002.11:g.135734635_135734637del, NC_000002.11:g.135734636_135734637del, NC_000002.11:g.135734637del, NC_000002.11:g.135734637dup, NC_000002.11:g.135734636_135734637dup, NC_000002.11:g.135734635_135734637dup, NC_000002.11:g.135734634_135734637dup, NC_000002.11:g.135734633_135734637dup, NC_000002.11:g.135734632_135734637dup

Select item 14909626569.

rs1490962656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:135003434 (GRCh38)
2:135761004 (GRCh37)
Canonical SPDI:: NC_000002.12:135003433:C:T
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.135003434C>T, NC_000002.11:g.135761004C>T

Select item 149095953410.

rs1490959534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:135033855 (GRCh38)
2:135791425 (GRCh37)
Canonical SPDI:: NC_000002.12:135033854:G:T
Gene:: MAP3K19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.135033855G>T, NC_000002.11:g.135791425G>T

Select item 149083589711.

rs1490835897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:135032356 (GRCh38)
2:135789926 (GRCh37)
Canonical SPDI:: NC_000002.12:135032355:G:A,NC_000002.12:135032355:G:T
Gene:: MAP3K19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00118/19 (ALFA)
A=0.04421/129 (KOREAN)
HGVS:: NC_000002.12:g.135032356G>A, NC_000002.12:g.135032356G>T, NC_000002.11:g.135789926G>A, NC_000002.11:g.135789926G>T

Select item 149078614812.

rs1490786148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:135048836 (GRCh38)
2:135806406 (GRCh37)
Canonical SPDI:: NC_000002.12:135048835:A:T
Gene:: MAP3K19 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.135048836A>T, NC_000002.11:g.135806406A>T, NG_016972.1:g.1572A>T

Select item 149075724513.

rs1490757245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:134972615 (GRCh38)
2:135730185 (GRCh37)
Canonical SPDI:: NC_000002.12:134972614:C:T
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00884/144 (ALFA)
T=0.00376/11 (KOREAN)
HGVS:: NC_000002.12:g.134972615C>T, NC_000002.11:g.135730185C>T

Select item 149075110014.

rs1490751100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:134977251 (GRCh38)
2:135734821 (GRCh37)
Canonical SPDI:: NC_000002.12:134977250:G:A,NC_000002.12:134977250:G:T
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.134977251G>A, NC_000002.12:g.134977251G>T, NC_000002.11:g.135734821G>A, NC_000002.11:g.135734821G>T

Select item 149068822815.

rs1490688228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:135010025 (GRCh38)
2:135767595 (GRCh37)
Canonical SPDI:: NC_000002.12:135010024:G:C
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.135010025G>C, NC_000002.11:g.135767595G>C

Select item 149067461516.

rs1490674615 [Homo sapiens]

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

Select item 149066890717.

rs1490668907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:135041718 (GRCh38)
2:135799288 (GRCh37)
Canonical SPDI:: NC_000002.12:135041717:A:G
Gene:: MAP3K19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.135041718A>G, NC_000002.11:g.135799288A>G

Select item 149060806418.

rs1490608064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:135042801 (GRCh38)
2:135800371 (GRCh37)
Canonical SPDI:: NC_000002.12:135042800:G:T
Gene:: MAP3K19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.135042801G>T, NC_000002.11:g.135800371G>T

Select item 149059360119.

rs1490593601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:134973918 (GRCh38)
2:135731488 (GRCh37)
Canonical SPDI:: NC_000002.12:134973917:A:G
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.134973918A>G, NC_000002.11:g.135731488A>G

Select item 149059223920.

rs1490592239 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:135011607 (GRCh38)
2:135769177 (GRCh37)
Canonical SPDI:: NC_000002.12:135011606:G:
Gene:: MAP3K19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.135011607del, NC_000002.11:g.135769177del

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