SNP Links for Gene (Select 66037) - SNP

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Select item 14914888411.

rs1491488841 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:197746899 (GRCh38)
2:198611623 (GRCh37)
Canonical SPDI:: NC_000002.12:197746898:GA:
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000002.12:g.197746899_197746900del, NC_000002.11:g.198611623_198611624del

Select item 14913959092.

rs1491395909 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:197745252 (GRCh38)
2:198609977 (GRCh37)
Canonical SPDI:: NC_000002.12:197745252::T
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.197745252_197745253insT, NC_000002.11:g.198609976_198609977insT

Select item 14913333113.

rs1491333311 has merged into rs35300403 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 2:197746913 (GRCh38)
2:198611637 (GRCh37)
Canonical SPDI:: NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:197746899:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.197746913_197746918del, NC_000002.12:g.197746914_197746918del, NC_000002.12:g.197746915_197746918del, NC_000002.12:g.197746916_197746918del, NC_000002.12:g.197746917_197746918del, NC_000002.12:g.197746918del, NC_000002.12:g.197746918dup, NC_000002.12:g.197746917_197746918dup, NC_000002.11:g.198611637_198611642del, NC_000002.11:g.198611638_198611642del, NC_000002.11:g.198611639_198611642del, NC_000002.11:g.198611640_198611642del, NC_000002.11:g.198611641_198611642del, NC_000002.11:g.198611642del, NC_000002.11:g.198611642dup, NC_000002.11:g.198611641_198611642dup

Select item 14912155604.

rs1491215560 [Homo sapiens]

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

Select item 14911853425.

rs1491185342 has merged into rs1367222517 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 2:197775412 (GRCh38)
2:198640136 (GRCh37)
Canonical SPDI:: NC_000002.12:197775411:TTTTTTTT:TTTTTTT,NC_000002.12:197775411:TTTTTTTT:TTTTTTTTT
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.197775419del, NC_000002.12:g.197775419dup, NC_000002.11:g.198640143del, NC_000002.11:g.198640143dup

Select item 14911694166.

rs1491169416 [Homo sapiens]

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

Select item 14911577797.

rs1491157779 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:197745253 (GRCh38)
2:198609977 (GRCh37)
Canonical SPDI:: NC_000002.12:197745251:AGA:A
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.197745253_197745254del, NC_000002.11:g.198609977_198609978del

Select item 14910898558.

rs1491089855 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:197775411 (GRCh38)
2:198640135 (GRCh37)
Canonical SPDI:: NC_000002.12:197775410:AT:
Gene:: BOLL (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.197775411_197775412del, NC_000002.11:g.198640135_198640136del

Select item 14910528869.

rs1491052886 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:197751852 (GRCh38)
2:198616576 (GRCh37)
Canonical SPDI:: NC_000002.12:197751850:AGA:A
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.197751852_197751853del, NC_000002.11:g.198616576_198616577del

Select item 149101345010.

rs1491013450 has merged into rs34230740 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 2:197763496 (GRCh38)
2:198628220 (GRCh37)
Canonical SPDI:: NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:197763479:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4515/2261 (1000Genomes)
-=0.5/4 (KOREAN)
HGVS:: NC_000002.12:g.197763496_197763497del, NC_000002.12:g.197763497del, NC_000002.12:g.197763497dup, NC_000002.12:g.197763496_197763497dup, NC_000002.12:g.197763495_197763497dup, NC_000002.12:g.197763494_197763497dup, NC_000002.12:g.197763493_197763497dup, NC_000002.12:g.197763492_197763497dup, NC_000002.11:g.198628220_198628221del, NC_000002.11:g.198628221del, NC_000002.11:g.198628221dup, NC_000002.11:g.198628220_198628221dup, NC_000002.11:g.198628219_198628221dup, NC_000002.11:g.198628218_198628221dup, NC_000002.11:g.198628217_198628221dup, NC_000002.11:g.198628216_198628221dup

Select item 149090880811.

rs1490908808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 2:197726615 (GRCh38)
2:198591339 (GRCh37)
Canonical SPDI:: NC_000002.12:197726614:A:C,NC_000002.12:197726614:A:G,NC_000002.12:197726614:A:T
Gene:: BOLL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.197726615A>C, NC_000002.12:g.197726615A>G, NC_000002.12:g.197726615A>T, NC_000002.11:g.198591339A>C, NC_000002.11:g.198591339A>G, NC_000002.11:g.198591339A>T

Select item 149089427312.

rs1490894273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:197742486 (GRCh38)
2:198607210 (GRCh37)
Canonical SPDI:: NC_000002.12:197742485:A:G
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.197742486A>G, NC_000002.11:g.198607210A>G

Select item 149088113913.

rs1490881139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:197758898 (GRCh38)
2:198623622 (GRCh37)
Canonical SPDI:: NC_000002.12:197758897:A:C
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.197758898A>C, NC_000002.11:g.198623622A>C

Select item 149078328914.

rs1490783289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:197779027 (GRCh38)
2:198643751 (GRCh37)
Canonical SPDI:: NC_000002.12:197779026:C:T
Gene:: BOLL (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197779027C>T, NC_000002.11:g.198643751C>T, NM_033030.6:c.169G>A, NM_033030.5:c.169G>A, XM_006712715.5:c.205G>A, XM_006712715.4:c.205G>A, XM_006712715.3:c.205G>A, XM_006712715.2:c.205G>A, XM_006712715.1:c.205G>A, XM_011511692.4:c.205G>A, XM_011511692.3:c.205G>A, XM_011511692.2:c.205G>A, XM_011511692.1:c.205G>A, XM_011511693.4:c.205G>A, XM_011511693.3:c.205G>A, XM_011511693.2:c.205G>A, XM_011511693.1:c.205G>A, XM_011511694.3:c.169G>A, XM_011511694.2:c.169G>A, XM_011511694.1:c.169G>A, NM_197970.3:c.205G>A, NM_197970.2:c.205G>A, XM_017004773.3:c.205G>A, XM_017004773.2:c.205G>A, XM_017004773.1:c.205G>A, NM_001284361.2:c.187G>A, NM_001284361.1:c.187G>A, NM_001284362.2:c.187G>A, NM_001284362.1:c.187G>A, XM_024453053.2:c.199G>A, XM_024453053.1:c.199G>A, NM_001284358.2:c.-28G>A, NM_001284358.1:c.-28G>A, XM_047445580.1:c.205G>A, NP_149019.1:p.Gly57Arg, XP_006712778.1:p.Gly69Arg, XP_011509994.1:p.Gly69Arg, XP_011509995.1:p.Gly69Arg, XP_011509996.1:p.Gly57Arg, NP_932074.1:p.Gly69Arg, XP_016860262.1:p.Gly69Arg, NP_001271290.1:p.Gly63Arg, NP_001271291.1:p.Gly63Arg, XP_024308821.1:p.Gly67Arg, XP_047301536.1:p.Gly69Arg

Select item 149076162315.

rs1490761623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:197750939 (GRCh38)
2:198615663 (GRCh37)
Canonical SPDI:: NC_000002.12:197750938:C:A
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.197750939C>A, NC_000002.11:g.198615663C>A

Select item 149070301316.

rs1490703013 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:197734589 (GRCh38)
2:198599314 (GRCh37)
Canonical SPDI:: NC_000002.12:197734589:AAAA:AAAAA
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.197734593dup, NC_000002.11:g.198599317dup

Select item 149062625417.

rs1490626254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:197729767 (GRCh38)
2:198594492 (GRCh37)
Canonical SPDI:: NC_000002.12:197729767:AAAA:AAAAA
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000071/1 (ALFA)
A=0.000086/12 (GnomAD)
A=0.000091/24 (TOPMED)
HGVS:: NC_000002.12:g.197729771dup, NC_000002.11:g.198594495dup

Select item 149059377218.

rs1490593772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:197779599 (GRCh38)
2:198644323 (GRCh37)
Canonical SPDI:: NC_000002.12:197779598:T:C
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.197779599T>C, NC_000002.11:g.198644323T>C

Select item 149055073919.

rs1490550739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:197728867 (GRCh38)
2:198593591 (GRCh37)
Canonical SPDI:: NC_000002.12:197728866:G:A
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.197728867G>A, NC_000002.11:g.198593591G>A

Select item 149050988520.

rs1490509885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:197738699 (GRCh38)
2:198603423 (GRCh37)
Canonical SPDI:: NC_000002.12:197738698:T:C
Gene:: BOLL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.197738699T>C, NC_000002.11:g.198603423T>C

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