SNP Links for Gene (Select 2124) - SNP

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Select item 14915759551.

rs1491575955 has merged into rs1170447460 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 17:31313722 (GRCh38)
17:29640740 (GRCh37)
Canonical SPDI:: NC_000017.11:31313719:ATAT:AT,NC_000017.11:31313719:ATAT:ATATAT
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.00011/2 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.31313720AT[1], NC_000017.11:g.31313720AT[3], NC_000017.10:g.29640738AT[1], NC_000017.10:g.29640738AT[3], NG_009018.1:g.223744AT[1], NG_009018.1:g.223744AT[3], NW_025791803.1:g.392885dup, NW_025791803.1:g.392884del, NW_025791803.1:g.392885_392886insATT

Select item 14915348572.

rs1491534857 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAATG,AATG,ATATG,ATATGTG,ATATGTGTGTG,ATATGTGTGTGTG,ATATGTGTGTGTGTG,ATATGTGTGTGTGTGTG,ATG,ATGTG,ATGTGTGTGTG [Show Flanks]
Chromosome:: 17:31313720 (GRCh38)
17:29640739 (GRCh37)
Canonical SPDI:: NC_000017.11:31313720::AAATG,NC_000017.11:31313720::AATG,NC_000017.11:31313720::ATATG,NC_000017.11:31313720::ATATGTG,NC_000017.11:31313720::ATATGTGTGTG,NC_000017.11:31313720::ATATGTGTGTGTG,NC_000017.11:31313720::ATATGTGTGTGTGTG,NC_000017.11:31313720::ATATGTGTGTGTGTGTG,NC_000017.11:31313720::ATG,NC_000017.11:31313720::ATGTG,NC_000017.11:31313720::ATGTGTGTGTG
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATG=0./0 (ALFA)
HGVS:: NC_000017.11:g.31313720_31313721insAAATG, NC_000017.11:g.31313720_31313721insAATG, NC_000017.11:g.31313720_31313721insATATG, NC_000017.11:g.31313720_31313721insATATGTG, NC_000017.11:g.31313720_31313721insATATGTGTGTG, NC_000017.11:g.31313720_31313721insATATGTGTGTGTG, NC_000017.11:g.31313720_31313721insATATGTGTGTGTGTG, NC_000017.11:g.31313720_31313721insATATGTGTGTGTGTGTG, NC_000017.11:g.31313720_31313721insATG, NC_000017.11:g.31313720_31313721insATGTG, NC_000017.11:g.31313720_31313721insATGTGTGTGTG, NC_000017.10:g.29640738_29640739insAAATG, NC_000017.10:g.29640738_29640739insAATG, NC_000017.10:g.29640738_29640739insATATG, NC_000017.10:g.29640738_29640739insATATGTG, NC_000017.10:g.29640738_29640739insATATGTGTGTG, NC_000017.10:g.29640738_29640739insATATGTGTGTGTG, NC_000017.10:g.29640738_29640739insATATGTGTGTGTGTG, NC_000017.10:g.29640738_29640739insATATGTGTGTGTGTGTG, NC_000017.10:g.29640738_29640739insATG, NC_000017.10:g.29640738_29640739insATGTG, NC_000017.10:g.29640738_29640739insATGTGTGTGTG, NG_009018.1:g.223744_223745insAAATG, NG_009018.1:g.223744_223745insAATG, NG_009018.1:g.223744_223745insATATG, NG_009018.1:g.223744_223745insATATGTG, NG_009018.1:g.223744_223745insATATGTGTGTG, NG_009018.1:g.223744_223745insATATGTGTGTGTG, NG_009018.1:g.223744_223745insATATGTGTGTGTGTG, NG_009018.1:g.223744_223745insATATGTGTGTGTGTGTG, NG_009018.1:g.223744_223745insATG, NG_009018.1:g.223744_223745insATGTG, NG_009018.1:g.223744_223745insATGTGTGTGTG, NW_025791803.1:g.392882_392883insAAATG, NW_025791803.1:g.392882_392883insAATG, NW_025791803.1:g.392882_392883insATATG, NW_025791803.1:g.392882_392883insATATGTG, NW_025791803.1:g.392882_392883insATATGTGTGTG, NW_025791803.1:g.392882_392883insATATGTGTGTGTG, NW_025791803.1:g.392882_392883insATATGTGTGTGTGTG, NW_025791803.1:g.392882_392883insATATGTGTGTGTGTGTG, NW_025791803.1:g.392882_392883insATG, NW_025791803.1:g.392882_392883insATGTG, NW_025791803.1:g.392882_392883insATGTGTGTGTG

Select item 14908378753.

rs1490837875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31304897 (GRCh38)
17:29631915 (GRCh37)
Canonical SPDI:: NC_000017.11:31304896:C:T
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31304897C>T, NC_000017.10:g.29631915C>T, NG_009018.1:g.214921C>T, NW_025791803.1:g.384059C>T, NM_006495.4:c.713G>A, NM_006495.3:c.713G>A, NP_006486.3:p.Trp238Ter

Select item 14906388424.

rs1490638842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:31310496 (GRCh38)
17:29637514 (GRCh37)
Canonical SPDI:: NC_000017.11:31310495:C:G
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.31310496C>G, NC_000017.10:g.29637514C>G, NG_009018.1:g.220520C>G, NW_025791803.1:g.389657C>G

Select item 14905453875.

rs1490545387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:31313849 (GRCh38)
17:29640867 (GRCh37)
Canonical SPDI:: NC_000017.11:31313848:A:T
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.31313849A>T, NC_000017.10:g.29640867A>T, NG_009018.1:g.223873A>T, NW_025791803.1:g.393003A>T

Select item 14905300536.

rs1490530053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31308507 (GRCh38)
17:29635525 (GRCh37)
Canonical SPDI:: NC_000017.11:31308506:G:A
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.31308507G>A, NC_000017.10:g.29635525G>A, NG_009018.1:g.218531G>A, NW_025791803.1:g.387669G>A

Select item 14898252247.

rs1489825224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31310087 (GRCh38)
17:29637105 (GRCh37)
Canonical SPDI:: NC_000017.11:31310086:G:A
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.31310087G>A, NC_000017.10:g.29637105G>A, NG_009018.1:g.220111G>A, NW_025791803.1:g.389248G>A

Select item 14892355688.

rs1489235568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:31309567 (GRCh38)
17:29636585 (GRCh37)
Canonical SPDI:: NC_000017.11:31309566:C:A
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31309567C>A, NC_000017.10:g.29636585C>A, NG_009018.1:g.219591C>A, NW_025791803.1:g.388728C>A

Select item 14892258529.

rs1489225852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31312222 (GRCh38)
17:29639240 (GRCh37)
Canonical SPDI:: NC_000017.11:31312221:G:A
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.31312222G>A, NC_000017.10:g.29639240G>A, NG_009018.1:g.222246G>A, NW_025791803.1:g.391383G>A

Select item 148898110010.

rs1488981100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31311780 (GRCh38)
17:29638798 (GRCh37)
Canonical SPDI:: NC_000017.11:31311779:C:T
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.31311780C>T, NC_000017.10:g.29638798C>T, NG_009018.1:g.221804C>T, NW_025791803.1:g.390941C>T

Select item 148889166711.

rs1488891667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31307553 (GRCh38)
17:29634571 (GRCh37)
Canonical SPDI:: NC_000017.11:31307552:G:A
Gene:: EVI2B (Varview), NF1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31307553G>A, NC_000017.10:g.29634571G>A, NG_009018.1:g.217577G>A, NW_025791803.1:g.386715G>A

Select item 148869796112.

rs1488697961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31306485 (GRCh38)
17:29633503 (GRCh37)
Canonical SPDI:: NC_000017.11:31306484:A:G
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.31306485A>G, NC_000017.10:g.29633503A>G, NG_009018.1:g.216509A>G, NW_025791803.1:g.385647A>G

Select item 148813265313.

rs1488132653 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAATTTGACT>- [Show Flanks]
Chromosome:: 17:31305687 (GRCh38)
17:29632705 (GRCh37)
Canonical SPDI:: NC_000017.11:31305685:TAAAAATTTGACT:T
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.31305687_31305698del, NC_000017.10:g.29632705_29632716del, NG_009018.1:g.215711_215722del, NW_025791803.1:g.384849_384860del

Select item 148804903414.

rs1488049034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31307428 (GRCh38)
17:29634446 (GRCh37)
Canonical SPDI:: NC_000017.11:31307427:A:G
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.31307428A>G, NC_000017.10:g.29634446A>G, NG_009018.1:g.217452A>G, NW_025791803.1:g.386590A>G

Select item 148784372115.

rs1487843721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31303870 (GRCh38)
17:29630888 (GRCh37)
Canonical SPDI:: NC_000017.11:31303869:C:T
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000017.11:g.31303870C>T, NC_000017.10:g.29630888C>T, NG_009018.1:g.213894C>T, NW_025791803.1:g.383032C>T, NM_006495.4:c.*393G>A, NM_006495.3:c.*393G>A

Select item 148772815816.

rs1487728158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31315701 (GRCh38)
17:29642719 (GRCh37)
Canonical SPDI:: NC_000017.11:31315700:A:G
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.31315701A>G, NC_000017.10:g.29642719A>G, NG_009018.1:g.225725A>G, NW_025791803.1:g.394855A>G

Select item 148761843217.

rs1487618432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:31311460 (GRCh38)
17:29638478 (GRCh37)
Canonical SPDI:: NC_000017.11:31311459:A:T
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.31311460A>T, NC_000017.10:g.29638478A>T, NG_009018.1:g.221484A>T, NW_025791803.1:g.390621A>T

Select item 148758676018.

rs1487586760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31312624 (GRCh38)
17:29639642 (GRCh37)
Canonical SPDI:: NC_000017.11:31312623:T:C
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31312624T>C, NC_000017.10:g.29639642T>C, NG_009018.1:g.222648T>C, NW_025791803.1:g.391785T>C

Select item 148713168319.

rs1487131683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:31303742 (GRCh38)
17:29630760 (GRCh37)
Canonical SPDI:: NC_000017.11:31303741:T:A
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31303742T>A, NC_000017.10:g.29630760T>A, NG_009018.1:g.213766T>A, NW_025791803.1:g.382904T>A

Select item 148698813820.

rs1486988138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31313114 (GRCh38)
17:29640132 (GRCh37)
Canonical SPDI:: NC_000017.11:31313113:A:G
Gene:: EVI2B (Varview), NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.31313114A>G, NC_000017.10:g.29640132A>G, NG_009018.1:g.223138A>G, NW_025791803.1:g.392276A>G

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