SNP Links for Gene (Select 4601) - SNP

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Select item 14915849891.

rs1491584989 has merged into rs113320766 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:110250840 (GRCh38)
10:112010598 (GRCh37)
Canonical SPDI:: NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:110250829:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3808/1907 (1000Genomes)
HGVS:: NC_000010.11:g.110250840_110250848del, NC_000010.11:g.110250841_110250848del, NC_000010.11:g.110250842_110250848del, NC_000010.11:g.110250843_110250848del, NC_000010.11:g.110250844_110250848del, NC_000010.11:g.110250846_110250848del, NC_000010.11:g.110250847_110250848del, NC_000010.11:g.110250848del, NC_000010.11:g.110250848dup, NC_000010.11:g.110250847_110250848dup, NC_000010.11:g.110250846_110250848dup, NC_000010.10:g.112010598_112010606del, NC_000010.10:g.112010599_112010606del, NC_000010.10:g.112010600_112010606del, NC_000010.10:g.112010601_112010606del, NC_000010.10:g.112010602_112010606del, NC_000010.10:g.112010604_112010606del, NC_000010.10:g.112010605_112010606del, NC_000010.10:g.112010606del, NC_000010.10:g.112010606dup, NC_000010.10:g.112010605_112010606dup, NC_000010.10:g.112010604_112010606dup, NG_012103.1:g.48236_48244del, NG_012103.1:g.48237_48244del, NG_012103.1:g.48238_48244del, NG_012103.1:g.48239_48244del, NG_012103.1:g.48240_48244del, NG_012103.1:g.48242_48244del, NG_012103.1:g.48243_48244del, NG_012103.1:g.48244del, NG_012103.1:g.48244dup, NG_012103.1:g.48243_48244dup, NG_012103.1:g.48242_48244dup

Select item 14915707562.

rs1491570756 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:110226646 (GRCh38)
10:111986404 (GRCh37)
Canonical SPDI:: NC_000010.11:110226645:AG:
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.110226646_110226647del, NC_000010.10:g.111986404_111986405del, NG_012103.1:g.24042_24043del

Select item 14915085433.

rs1491508543 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:110231363 (GRCh38)
10:111991122 (GRCh37)
Canonical SPDI:: NC_000010.11:110231363::G
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/2 (GnomAD)
HGVS:: NC_000010.11:g.110231363_110231364insG, NC_000010.10:g.111991121_111991122insG, NG_012103.1:g.28759_28760insG

Select item 14914617504.

rs1491461750 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTTTTGTTTTTTTTT [Show Flanks]
Chromosome:: 10:110216666 (GRCh38)
10:111976425 (GRCh37)
Canonical SPDI:: NC_000010.11:110216666:TTTTTTTTT:TTTTTTTTTGTTTTTTTTTTGTTTTTTTTT
Gene:: MXI1 (Varview), LOC105378480 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TTTTTTTTTGTTTTTTTTTTG=0.001/1 (GnomAD)
HGVS:: NC_000010.11:g.110216667_110216675TTTTTTTTTGT[2]T[8], NC_000010.10:g.111976425_111976433TTTTTTTTTGT[2]T[8], NG_012103.1:g.14063_14071TTTTTTTTTGT[2]T[8], XR_946315.4:n.4931_4939AAAAAAAAACA[2]A[8]

Select item 14914447595.

rs1491444759 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:110279163 (GRCh38)
10:112038922 (GRCh37)
Canonical SPDI:: NC_000010.11:110279163:TTTTT:TTTTTT
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110279168dup, NC_000010.10:g.112038926dup, NG_012103.1:g.76564dup

Select item 14914385836.

rs1491438583 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:110226899 (GRCh38)
10:111986657 (GRCh37)
Canonical SPDI:: NC_000010.11:110226897:GAG:G
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00133/15 (TOMMO)
HGVS:: NC_000010.11:g.110226899_110226900del, NC_000010.10:g.111986657_111986658del, NG_012103.1:g.24295_24296del

Select item 14914295177.

rs1491429517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:110220371 (GRCh38)
10:111980130 (GRCh37)
Canonical SPDI:: NC_000010.11:110220371:A:AA
Gene:: MXI1 (Varview), LOC105378480 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110220372dup, NC_000010.10:g.111980130dup, NG_012103.1:g.17768dup, XR_946315.4:n.1234dup

Select item 14914263258.

rs1491426325 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:110250829 (GRCh38)
10:112010587 (GRCh37)
Canonical SPDI:: NC_000010.11:110250828:CA:
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000010.11:g.110250829_110250830del, NC_000010.10:g.112010587_112010588del, NG_012103.1:g.48225_48226del

Select item 14914171339.

rs1491417133 has merged into rs138538431 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 10:110284811 (GRCh38)
10:112044569 (GRCh37)
Canonical SPDI:: NC_000010.11:110284801:TTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:110284801:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:110284801:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:110284801:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:110284801:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.00583/129 (ALFA)
-=0.00004/1 (TOMMO)
T=0.0024/12 (1000Genomes)
TTT=0.47457/1829 (ALSPAC)
TTT=0.48652/1804 (TWINSUK)
HGVS:: NC_000010.11:g.110284811_110284813del, NC_000010.11:g.110284812_110284813del, NC_000010.11:g.110284813del, NC_000010.11:g.110284813dup, NC_000010.11:g.110284811_110284813dup, NC_000010.10:g.112044569_112044571del, NC_000010.10:g.112044570_112044571del, NC_000010.10:g.112044571del, NC_000010.10:g.112044571dup, NC_000010.10:g.112044569_112044571dup, NG_012103.1:g.82207_82209del, NG_012103.1:g.82208_82209del, NG_012103.1:g.82209del, NG_012103.1:g.82209dup, NG_012103.1:g.82207_82209dup

Select item 149128205610.

rs1491282056 has merged into rs10656872 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:110216675 (GRCh38)
10:111976433 (GRCh37)
Canonical SPDI:: NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110216665:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MXI1 (Varview), LOC105378480 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0672/249 (TWINSUK)
-=0.0763/294 (ALSPAC)
HGVS:: NC_000010.11:g.110216675_110216685del, NC_000010.11:g.110216677_110216685del, NC_000010.11:g.110216678_110216685del, NC_000010.11:g.110216679_110216685del, NC_000010.11:g.110216680_110216685del, NC_000010.11:g.110216681_110216685del, NC_000010.11:g.110216682_110216685del, NC_000010.11:g.110216683_110216685del, NC_000010.11:g.110216684_110216685del, NC_000010.11:g.110216685del, NC_000010.11:g.110216685dup, NC_000010.11:g.110216684_110216685dup, NC_000010.11:g.110216683_110216685dup, NC_000010.11:g.110216682_110216685dup, NC_000010.11:g.110216681_110216685dup, NC_000010.11:g.110216680_110216685dup, NC_000010.11:g.110216679_110216685dup, NC_000010.11:g.110216678_110216685dup, NC_000010.11:g.110216677_110216685dup, NC_000010.11:g.110216676_110216685dup, NC_000010.11:g.110216675_110216685dup, NC_000010.11:g.110216674_110216685dup, NC_000010.11:g.110216673_110216685dup, NC_000010.11:g.110216672_110216685dup, NC_000010.11:g.110216671_110216685dup, NC_000010.11:g.110216670_110216685dup, NC_000010.11:g.110216669_110216685dup, NC_000010.11:g.110216668_110216685dup, NC_000010.11:g.110216667_110216685dup, NC_000010.11:g.110216666_110216685dup, NC_000010.11:g.110216666_110216685T[40]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.110216685_110216686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976433_111976443del, NC_000010.10:g.111976435_111976443del, NC_000010.10:g.111976436_111976443del, NC_000010.10:g.111976437_111976443del, NC_000010.10:g.111976438_111976443del, NC_000010.10:g.111976439_111976443del, NC_000010.10:g.111976440_111976443del, NC_000010.10:g.111976441_111976443del, NC_000010.10:g.111976442_111976443del, NC_000010.10:g.111976443del, NC_000010.10:g.111976443dup, NC_000010.10:g.111976442_111976443dup, NC_000010.10:g.111976441_111976443dup, NC_000010.10:g.111976440_111976443dup, NC_000010.10:g.111976439_111976443dup, NC_000010.10:g.111976438_111976443dup, NC_000010.10:g.111976437_111976443dup, NC_000010.10:g.111976436_111976443dup, NC_000010.10:g.111976435_111976443dup, NC_000010.10:g.111976434_111976443dup, NC_000010.10:g.111976433_111976443dup, NC_000010.10:g.111976432_111976443dup, NC_000010.10:g.111976431_111976443dup, NC_000010.10:g.111976430_111976443dup, NC_000010.10:g.111976429_111976443dup, NC_000010.10:g.111976428_111976443dup, NC_000010.10:g.111976427_111976443dup, NC_000010.10:g.111976426_111976443dup, NC_000010.10:g.111976425_111976443dup, NC_000010.10:g.111976424_111976443dup, NC_000010.10:g.111976424_111976443T[40]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.111976443_111976444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14071_14081del, NG_012103.1:g.14073_14081del, NG_012103.1:g.14074_14081del, NG_012103.1:g.14075_14081del, NG_012103.1:g.14076_14081del, NG_012103.1:g.14077_14081del, NG_012103.1:g.14078_14081del, NG_012103.1:g.14079_14081del, NG_012103.1:g.14080_14081del, NG_012103.1:g.14081del, NG_012103.1:g.14081dup, NG_012103.1:g.14080_14081dup, NG_012103.1:g.14079_14081dup, NG_012103.1:g.14078_14081dup, NG_012103.1:g.14077_14081dup, NG_012103.1:g.14076_14081dup, NG_012103.1:g.14075_14081dup, NG_012103.1:g.14074_14081dup, NG_012103.1:g.14073_14081dup, NG_012103.1:g.14072_14081dup, NG_012103.1:g.14071_14081dup, NG_012103.1:g.14070_14081dup, NG_012103.1:g.14069_14081dup, NG_012103.1:g.14068_14081dup, NG_012103.1:g.14067_14081dup, NG_012103.1:g.14066_14081dup, NG_012103.1:g.14065_14081dup, NG_012103.1:g.14064_14081dup, NG_012103.1:g.14063_14081dup, NG_012103.1:g.14062_14081dup, NG_012103.1:g.14062_14081T[40]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012103.1:g.14081_14082insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XR_946315.4:n.4930_4940del, XR_946315.4:n.4932_4940del, XR_946315.4:n.4933_4940del, XR_946315.4:n.4934_4940del, XR_946315.4:n.4935_4940del, XR_946315.4:n.4936_4940del, XR_946315.4:n.4937_4940del, XR_946315.4:n.4938_4940del, XR_946315.4:n.4939_4940del, XR_946315.4:n.4940del, XR_946315.4:n.4940dup, XR_946315.4:n.4939_4940dup, XR_946315.4:n.4938_4940dup, XR_946315.4:n.4937_4940dup, XR_946315.4:n.4936_4940dup, XR_946315.4:n.4935_4940dup, XR_946315.4:n.4934_4940dup, XR_946315.4:n.4933_4940dup, XR_946315.4:n.4932_4940dup, XR_946315.4:n.4931_4940dup, XR_946315.4:n.4930_4940dup, XR_946315.4:n.4929_4940dup, XR_946315.4:n.4928_4940dup, XR_946315.4:n.4927_4940dup, XR_946315.4:n.4926_4940dup, XR_946315.4:n.4925_4940dup, XR_946315.4:n.4924_4940dup, XR_946315.4:n.4923_4940dup, XR_946315.4:n.4922_4940dup, XR_946315.4:n.4921_4940dup, XR_946315.4:n.4921_4940A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_946315.4:n.4940_4941insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149127170711.

rs1491271707 has merged into rs1209127591 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 10:110226651 (GRCh38)
10:111986409 (GRCh37)
Canonical SPDI:: NC_000010.11:110226646:GGGGGG:GGGG,NC_000010.11:110226646:GGGGGG:GGGGG,NC_000010.11:110226646:GGGGGG:GGGGGGG
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.00035/4 (TOMMO)
HGVS:: NC_000010.11:g.110226651_110226652del, NC_000010.11:g.110226652del, NC_000010.11:g.110226652dup, NC_000010.10:g.111986409_111986410del, NC_000010.10:g.111986410del, NC_000010.10:g.111986410dup, NG_012103.1:g.24047_24048del, NG_012103.1:g.24048del, NG_012103.1:g.24048dup

Select item 149125927312.

rs1491259273 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:110231374 (GRCh38)
10:111991132 (GRCh37)
Canonical SPDI:: NC_000010.11:110231372:CTC:C
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000337/4 (ALFA)
-=0.0008/111 (GnomAD)
HGVS:: NC_000010.11:g.110231374_110231375del, NC_000010.10:g.111991132_111991133del, NG_012103.1:g.28770_28771del

Select item 149123793013.

rs1491237930 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:110284801 (GRCh38)
10:112044559 (GRCh37)
Canonical SPDI:: NC_000010.11:110284799:TCT:T
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.110284801_110284802del, NC_000010.10:g.112044559_112044560del, NG_012103.1:g.82197_82198del

Select item 149121452214.

rs1491214522 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:110260415 (GRCh38)
10:112020173 (GRCh37)
Canonical SPDI:: NC_000010.11:110260414:AG:
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000061/1 (ALFA)
-=0.000039/4 (GnomAD)
HGVS:: NC_000010.11:g.110260415_110260416del, NC_000010.10:g.112020173_112020174del, NG_012103.1:g.57811_57812del

Select item 149118057715.

rs1491180577 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:110281512 (GRCh38)
10:112041271 (GRCh37)
Canonical SPDI:: NC_000010.11:110281512:TTTTTT:TTTTTTT
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110281518dup, NC_000010.10:g.112041276dup, NG_012103.1:g.78914dup

Select item 149115597316.

rs1491155973 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T,TGTGA [Show Flanks]
Chromosome:: 10:110226898 (GRCh38)
10:111986657 (GRCh37)
Canonical SPDI:: NC_000010.11:110226898::C,NC_000010.11:110226898::T,NC_000010.11:110226898::TGTGA
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.110226898_110226899insC, NC_000010.11:g.110226898_110226899insT, NC_000010.11:g.110226898_110226899insTGTGA, NC_000010.10:g.111986656_111986657insC, NC_000010.10:g.111986656_111986657insT, NC_000010.10:g.111986656_111986657insTGTGA, NG_012103.1:g.24294_24295insC, NG_012103.1:g.24294_24295insT, NG_012103.1:g.24294_24295insTGTGA

Select item 149114872017.

rs1491148720 has merged into rs201426609 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 10:110231372 (GRCh38)
10:111991130 (GRCh37)
Canonical SPDI:: NC_000010.11:110231362:CCCCCCCCCCC:CCCCCCCCC,NC_000010.11:110231362:CCCCCCCCCCC:CCCCCCCCCC,NC_000010.11:110231362:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000010.11:110231362:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000010.11:110231362:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000010.11:g.110231372_110231373del, NC_000010.11:g.110231373del, NC_000010.11:g.110231373dup, NC_000010.11:g.110231372_110231373dup, NC_000010.11:g.110231371_110231373dup, NC_000010.10:g.111991130_111991131del, NC_000010.10:g.111991131del, NC_000010.10:g.111991131dup, NC_000010.10:g.111991130_111991131dup, NC_000010.10:g.111991129_111991131dup, NG_012103.1:g.28768_28769del, NG_012103.1:g.28769del, NG_012103.1:g.28769dup, NG_012103.1:g.28768_28769dup, NG_012103.1:g.28767_28769dup

Select item 149113815118.

rs1491138151 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 10:110260415 (GRCh38)
10:112020174 (GRCh37)
Canonical SPDI:: NC_000010.11:110260415:GG:GGGG
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.0059/70 (ALFA)
GG=0.01092/1058 (GnomAD)
HGVS:: NC_000010.11:g.110260416_110260417dup, NC_000010.10:g.112020174_112020175dup, NG_012103.1:g.57812_57813dup

Select item 149111593819.

rs1491115938 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:110279163 (GRCh38)
10:112038921 (GRCh37)
Canonical SPDI:: NC_000010.11:110279162:CT:
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110279163_110279164del, NC_000010.10:g.112038921_112038922del, NG_012103.1:g.76559_76560del

Select item 149106501320.

rs1491065013 has merged into rs199767400 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 10:110231985 (GRCh38)
10:111991743 (GRCh37)
Canonical SPDI:: NC_000010.11:110231975:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:110231975:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:110231975:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:110231975:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: MXI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.06/36 (NorthernSweden)
T=0.125/5 (GENOME_DK)
T=0.12891/478 (TWINSUK)
T=0.130254/502 (ALSPAC)
T=0.14659/38801 (TOPMED)
T=0.212859/1066 (1000Genomes)
HGVS:: NC_000010.11:g.110231985_110231986del, NC_000010.11:g.110231986del, NC_000010.11:g.110231986dup, NC_000010.11:g.110231985_110231986dup, NC_000010.10:g.111991743_111991744del, NC_000010.10:g.111991744del, NC_000010.10:g.111991744dup, NC_000010.10:g.111991743_111991744dup, NG_012103.1:g.29381_29382del, NG_012103.1:g.29382del, NG_012103.1:g.29382dup, NG_012103.1:g.29381_29382dup

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