SNP Links for Gene (Select 107282092) - SNP

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Select item 14915851561.

rs1491585156 has merged into rs1315267367 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 16:29450840 (GRCh38)
16:29462161 (GRCh37)
Canonical SPDI:: NC_000016.10:29450834:TATATATAT:TATAT,NC_000016.10:29450834:TATATATAT:TATATAT,NC_000016.10:29450834:TATATATAT:TATATATATAT
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0./0 (ALFA)
HGVS:: NC_000016.10:g.29450836AT[2], NC_000016.10:g.29450836AT[3], NC_000016.10:g.29450836AT[5], NC_000016.9:g.29462157AT[2], NC_000016.9:g.29462157AT[3], NC_000016.9:g.29462157AT[5]

Select item 14915424202.

rs1491542420 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATG,G [Show Flanks]
Chromosome:: 16:29450779 (GRCh38)
16:29462101 (GRCh37)
Canonical SPDI:: NC_000016.10:29450779::A,NC_000016.10:29450779::ATA,NC_000016.10:29450779::ATATA,NC_000016.10:29450779::ATATATA,NC_000016.10:29450779::ATATATATA,NC_000016.10:29450779::ATATATATATA,NC_000016.10:29450779::ATATATATATATA,NC_000016.10:29450779::ATATATATATATATA,NC_000016.10:29450779::ATG,NC_000016.10:29450779::G
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000016.10:g.29450779_29450780insA, NC_000016.10:g.29450779_29450780insATA, NC_000016.10:g.29450779_29450780insATATA, NC_000016.10:g.29450779_29450780insATATATA, NC_000016.10:g.29450779_29450780insATATATATA, NC_000016.10:g.29450779_29450780insATATATATATA, NC_000016.10:g.29450779_29450780insATATATATATATA, NC_000016.10:g.29450779_29450780insATATATATATATATA, NC_000016.10:g.29450779_29450780insATG, NC_000016.10:g.29450779_29450780insG, NC_000016.9:g.29462100_29462101insA, NC_000016.9:g.29462100_29462101insATA, NC_000016.9:g.29462100_29462101insATATA, NC_000016.9:g.29462100_29462101insATATATA, NC_000016.9:g.29462100_29462101insATATATATA, NC_000016.9:g.29462100_29462101insATATATATATA, NC_000016.9:g.29462100_29462101insATATATATATATA, NC_000016.9:g.29462100_29462101insATATATATATATATA, NC_000016.9:g.29462100_29462101insATG, NC_000016.9:g.29462100_29462101insG

Select item 14915278263.

rs1491527826 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:29451059 (GRCh38)
16:29462380 (GRCh37)
Canonical SPDI:: NC_000016.10:29451052:ATATATAT:ATATAT
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATAT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000016.10:g.29451053AT[3], NC_000016.9:g.29462374AT[3]

Select item 14914596254.

rs1491459625 has merged into rs61565898 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:29450782 (GRCh38)
16:29462103 (GRCh37)
Canonical SPDI:: NC_000016.10:29450778:TTTTTTTTTTTTT:TTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:29450778:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.29450782_29450791del, NC_000016.10:g.29450786_29450791del, NC_000016.10:g.29450787_29450791del, NC_000016.10:g.29450788_29450791del, NC_000016.10:g.29450789_29450791del, NC_000016.10:g.29450790_29450791del, NC_000016.10:g.29450791del, NC_000016.10:g.29450791dup, NC_000016.10:g.29450790_29450791dup, NC_000016.10:g.29450789_29450791dup, NC_000016.9:g.29462103_29462112del, NC_000016.9:g.29462107_29462112del, NC_000016.9:g.29462108_29462112del, NC_000016.9:g.29462109_29462112del, NC_000016.9:g.29462110_29462112del, NC_000016.9:g.29462111_29462112del, NC_000016.9:g.29462112del, NC_000016.9:g.29462112dup, NC_000016.9:g.29462111_29462112dup, NC_000016.9:g.29462110_29462112dup

Select item 14914484215.

rs1491448421 has merged into rs1187184475 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:29450755 (GRCh38)
16:29462076 (GRCh37)
Canonical SPDI:: NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:29450742:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.29450755_29450762del, NC_000016.10:g.29450756_29450762del, NC_000016.10:g.29450757_29450762del, NC_000016.10:g.29450758_29450762del, NC_000016.10:g.29450759_29450762del, NC_000016.10:g.29450760_29450762del, NC_000016.10:g.29450761_29450762del, NC_000016.10:g.29450762del, NC_000016.10:g.29450762dup, NC_000016.10:g.29450761_29450762dup, NC_000016.10:g.29450760_29450762dup, NC_000016.10:g.29450759_29450762dup, NC_000016.10:g.29450758_29450762dup, NC_000016.10:g.29450756_29450762dup, NC_000016.9:g.29462076_29462083del, NC_000016.9:g.29462077_29462083del, NC_000016.9:g.29462078_29462083del, NC_000016.9:g.29462079_29462083del, NC_000016.9:g.29462080_29462083del, NC_000016.9:g.29462081_29462083del, NC_000016.9:g.29462082_29462083del, NC_000016.9:g.29462083del, NC_000016.9:g.29462083dup, NC_000016.9:g.29462082_29462083dup, NC_000016.9:g.29462081_29462083dup, NC_000016.9:g.29462080_29462083dup, NC_000016.9:g.29462079_29462083dup, NC_000016.9:g.29462077_29462083dup

Select item 14913937946.

rs1491393794 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAATAAATTATATATTATATTATATA [Show Flanks]
Chromosome:: 16:29450960 (GRCh38)
16:29462282 (GRCh37)
Canonical SPDI:: NC_000016.10:29450960:TATATATTATATTATATAATAATAAATTATATATTATATTATATA:TATATATTATATTATATAATAATAAATTATATATTATATTATATAATAATAAATTATATATTATATTATATA
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TATATATTATATTATATAATAATAAAT=0.0003/11 (GnomAD)
HGVS:: NC_000016.10:g.29450979_29451005dup, NC_000016.9:g.29462300_29462326dup

Select item 14913020087.

rs1491302008 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:29450742 (GRCh38)
16:29462063 (GRCh37)
Canonical SPDI:: NC_000016.10:29450741:CA:
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00573/68 (ALFA)
HGVS:: NC_000016.10:g.29450742_29450743del, NC_000016.9:g.29462063_29462064del

Select item 14911756298.

rs1491175629 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATATTATATTATATTATATATTATAATATA>-,TTATATTATATTATATTATATATTATAATATATTATATTATATTATATTATATATTATAATATA [Show Flanks]
Chromosome:: 16:29451070 (GRCh38)
16:29462391 (GRCh37)
Canonical SPDI:: NC_000016.10:29451053:TATATATTATAATATATTATATTATATTATATTATATATTATAATATA:TATATATTATAATATA,NC_000016.10:29451053:TATATATTATAATATATTATATTATATTATATTATATATTATAATATA:TATATATTATAATATATTATATTATATTATATTATATATTATAATATATTATATTATATTATATTATATATTATAATATA
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATTATAATATA=0./0 (ALFA)
TATATATTATAATATATTATATTATATTATAT=0.000036/1 (TOMMO)
TATATATTATAATATATTATATTATATTATAT=0.000128/13 (GnomAD)
HGVS:: NC_000016.10:g.29451070_29451101del, NC_000016.10:g.29451070_29451101dup, NC_000016.9:g.29462391_29462422del, NC_000016.9:g.29462391_29462422dup

Select item 14911004259.

rs1491100425 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 16:29450835 (GRCh38)
16:29462157 (GRCh37)
Canonical SPDI:: NC_000016.10:29450835:A:ACA
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.29450836_29450837insCA, NC_000016.9:g.29462157_29462158insCA

Select item 149069438910.

rs1490694389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:29450973 (GRCh38)
16:29462294 (GRCh37)
Canonical SPDI:: NC_000016.10:29450972:T:A
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.29450973T>A, NC_000016.9:g.29462294T>A

Select item 149068473011.

rs1490684730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29451891 (GRCh38)
16:29463212 (GRCh37)
Canonical SPDI:: NC_000016.10:29451890:C:T
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000016.10:g.29451891C>T, NC_000016.9:g.29463212C>T

Select item 149056056112.

rs1490560561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:29452022 (GRCh38)
16:29463343 (GRCh37)
Canonical SPDI:: NC_000016.10:29452021:G:A,NC_000016.10:29452021:G:T
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00099/16 (ALFA)
HGVS:: NC_000016.10:g.29452022G>A, NC_000016.10:g.29452022G>T, NC_000016.9:g.29463343G>A, NC_000016.9:g.29463343G>T

Select item 149021124513.

rs1490211245 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 16:29450899 (GRCh38)
16:29462220 (GRCh37)
Canonical SPDI:: NC_000016.10:29450895:TATTAT:TAT
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0.0059/70 (ALFA)
-=0.01159/621 (GnomAD)
HGVS:: NC_000016.10:g.29450896TAT[1], NC_000016.9:g.29462217TAT[1]

Select item 149020562714.

rs1490205627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29452001 (GRCh38)
16:29463322 (GRCh37)
Canonical SPDI:: NC_000016.10:29452000:G:A
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000117/14 (GnomAD)
HGVS:: NC_000016.10:g.29452001G>A, NC_000016.9:g.29463322G>A

Select item 148966939715.

rs1489669397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATT,ATATATT,ATATT,ATT,ATTT,ATTTTT [Show Flanks]
Chromosome:: 16:29450778 (GRCh38)
16:29462100 (GRCh37)
Canonical SPDI:: NC_000016.10:29450778:T:TATATATATATT,NC_000016.10:29450778:T:TATATATT,NC_000016.10:29450778:T:TATATT,NC_000016.10:29450778:T:TATT,NC_000016.10:29450778:T:TATTT,NC_000016.10:29450778:T:TATTTTT
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATT=0./0 (ALFA)
HGVS:: NC_000016.10:g.29450779TA[5]TT[1], NC_000016.10:g.29450779TA[3]TT[1], NC_000016.10:g.29450779TA[2]TT[1], NC_000016.10:g.29450779_29450780insATT, NC_000016.10:g.29450779_29450780insATTT, NC_000016.10:g.29450779_29450780insATTTTT, NC_000016.9:g.29462100TA[5]TT[1], NC_000016.9:g.29462100TA[3]TT[1], NC_000016.9:g.29462100TA[2]TT[1], NC_000016.9:g.29462100_29462101insATT, NC_000016.9:g.29462100_29462101insATTT, NC_000016.9:g.29462100_29462101insATTTTT

Select item 148961768316.

rs1489617683 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:29451051 (GRCh38)
16:29462372 (GRCh37)
Canonical SPDI:: NC_000016.10:29451050:T:
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29451051del, NC_000016.9:g.29462372del

Select item 148943813417.

rs1489438134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTTTT>- [Show Flanks]
Chromosome:: 16:29450778 (GRCh38)
16:29462099 (GRCh37)
Canonical SPDI:: NC_000016.10:29450776:TATTTTTT:T
Gene:: BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000016.10:g.29450778_29450784del, NC_000016.9:g.29462099_29462105del

Select item 148928057918.

rs1489280579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:29446029 (GRCh38)
16:29457350 (GRCh37)
Canonical SPDI:: NC_000016.10:29446028:A:C
Gene:: SMG1P6 (Varview), BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000044/6 (GnomAD)
HGVS:: NC_000016.10:g.29446029A>C, NC_000016.9:g.29457350A>C

Select item 148923253119.

rs1489232531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29445757 (GRCh38)
16:29457078 (GRCh37)
Canonical SPDI:: NC_000016.10:29445756:C:T
Gene:: SMG1P6 (Varview), BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.29445757C>T, NC_000016.9:g.29457078C>T

Select item 148911911920.

rs1489119119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29445913 (GRCh38)
16:29457234 (GRCh37)
Canonical SPDI:: NC_000016.10:29445912:A:G
Gene:: SMG1P6 (Varview), BOLA2-SMG1P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.29445913A>G, NC_000016.9:g.29457234A>G

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