SNP Links for Nucleotide (Select 1049480220) - SNP

Links from Nucleotide

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Select item 14915850041.

rs1491585004 [Homo sapiens]

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

Select item 14915783992.

rs1491578399 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:159565777 (GRCh38)
2:160422288 (GRCh37)
Canonical SPDI:: NC_000002.12:159565776:CA:
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00185/22 (ALFA)
-=0.00138/39 (TOMMO)
HGVS:: NC_000002.12:g.159565777_159565778del, NC_000002.11:g.160422288_160422289del, NG_051314.1:g.151662_151663del

Select item 14915753163.

rs1491575316 has merged into rs68072307 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:159374083 (GRCh38)
2:160230594 (GRCh37)
Canonical SPDI:: NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:159374076:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.0919/354 (ALSPAC)
T=0.1044/387 (TWINSUK)
T=0.2855/1430 (1000Genomes)
T=0.375/15 (GENOME_DK)
HGVS:: NC_000002.12:g.159374083_159374092del, NC_000002.12:g.159374088_159374092del, NC_000002.12:g.159374089_159374092del, NC_000002.12:g.159374090_159374092del, NC_000002.12:g.159374091_159374092del, NC_000002.12:g.159374092del, NC_000002.12:g.159374092dup, NC_000002.12:g.159374091_159374092dup, NC_000002.12:g.159374084_159374092dup, NC_000002.11:g.160230594_160230603del, NC_000002.11:g.160230599_160230603del, NC_000002.11:g.160230600_160230603del, NC_000002.11:g.160230601_160230603del, NC_000002.11:g.160230602_160230603del, NC_000002.11:g.160230603del, NC_000002.11:g.160230603dup, NC_000002.11:g.160230602_160230603dup, NC_000002.11:g.160230595_160230603dup, NG_051314.1:g.343354_343363del, NG_051314.1:g.343359_343363del, NG_051314.1:g.343360_343363del, NG_051314.1:g.343361_343363del, NG_051314.1:g.343362_343363del, NG_051314.1:g.343363del, NG_051314.1:g.343363dup, NG_051314.1:g.343362_343363dup, NG_051314.1:g.343355_343363dup

Select item 14915727554.

rs1491572755 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:159553392 (GRCh38)
2:160409903 (GRCh37)
Canonical SPDI:: NC_000002.12:159553391:CA:
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
HGVS:: NC_000002.12:g.159553392_159553393del, NC_000002.11:g.160409903_160409904del, NG_051314.1:g.164047_164048del

Select item 14915719075.

rs1491571907 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:159393628 (GRCh38)
2:160250139 (GRCh37)
Canonical SPDI:: NC_000002.12:159393626:TCT:T
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.159393628_159393629del, NC_000002.11:g.160250139_160250140del, NG_051314.1:g.323812_323813del

Select item 14915647556.

rs1491564755 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA [Show Flanks]
Chromosome:: 2:159501202 (GRCh38)
2:160357714 (GRCh37)
Canonical SPDI:: NC_000002.12:159501202::A,NC_000002.12:159501202::ATA
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0.00006/1 (ALFA)
A=0.00018/3 (TOMMO)
HGVS:: NC_000002.12:g.159501202_159501203insA, NC_000002.12:g.159501202_159501203insATA, NC_000002.11:g.160357713_160357714insA, NC_000002.11:g.160357713_160357714insATA, NG_051314.1:g.216237_216238insT, NG_051314.1:g.216237_216238insTAT

Select item 14915601887.

rs1491560188 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:159501137 (GRCh38)
2:160357649 (GRCh37)
Canonical SPDI:: NC_000002.12:159501137::A
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00205/53 (GnomAD)
HGVS:: NC_000002.12:g.159501137_159501138insA, NC_000002.11:g.160357648_160357649insA, NG_051314.1:g.216302_216303insT

Select item 14915568978.

rs1491556897 has merged into rs768099248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:159704487 (GRCh38)
2:160560998 (GRCh37)
Canonical SPDI:: NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.159704487_159704499del, NC_000002.12:g.159704492_159704499del, NC_000002.12:g.159704493_159704499del, NC_000002.12:g.159704494_159704499del, NC_000002.12:g.159704497_159704499del, NC_000002.12:g.159704498_159704499del, NC_000002.12:g.159704499del, NC_000002.12:g.159704499dup, NC_000002.12:g.159704498_159704499dup, NC_000002.12:g.159704497_159704499dup, NC_000002.12:g.159704496_159704499dup, NC_000002.12:g.159704495_159704499dup, NC_000002.12:g.159704494_159704499dup, NC_000002.12:g.159704493_159704499dup, NC_000002.12:g.159704492_159704499dup, NC_000002.12:g.159704491_159704499dup, NC_000002.12:g.159704490_159704499dup, NC_000002.12:g.159704489_159704499dup, NC_000002.12:g.159704487_159704499dup, NC_000002.11:g.160560998_160561010del, NC_000002.11:g.160561003_160561010del, NC_000002.11:g.160561004_160561010del, NC_000002.11:g.160561005_160561010del, NC_000002.11:g.160561008_160561010del, NC_000002.11:g.160561009_160561010del, NC_000002.11:g.160561010del, NC_000002.11:g.160561010dup, NC_000002.11:g.160561009_160561010dup, NC_000002.11:g.160561008_160561010dup, NC_000002.11:g.160561007_160561010dup, NC_000002.11:g.160561006_160561010dup, NC_000002.11:g.160561005_160561010dup, NC_000002.11:g.160561004_160561010dup, NC_000002.11:g.160561003_160561010dup, NC_000002.11:g.160561002_160561010dup, NC_000002.11:g.160561001_160561010dup, NC_000002.11:g.160561000_160561010dup, NC_000002.11:g.160560998_160561010dup, NG_051314.1:g.12945_12957del, NG_051314.1:g.12950_12957del, NG_051314.1:g.12951_12957del, NG_051314.1:g.12952_12957del, NG_051314.1:g.12955_12957del, NG_051314.1:g.12956_12957del, NG_051314.1:g.12957del, NG_051314.1:g.12957dup, NG_051314.1:g.12956_12957dup, NG_051314.1:g.12955_12957dup, NG_051314.1:g.12954_12957dup, NG_051314.1:g.12953_12957dup, NG_051314.1:g.12952_12957dup, NG_051314.1:g.12951_12957dup, NG_051314.1:g.12950_12957dup, NG_051314.1:g.12949_12957dup, NG_051314.1:g.12948_12957dup, NG_051314.1:g.12947_12957dup, NG_051314.1:g.12945_12957dup

Select item 14915564169.

rs1491556416 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 2:159626000 (GRCh38)
2:160482512 (GRCh37)
Canonical SPDI:: NC_000002.12:159626000::A,NC_000002.12:159626000::AA
Gene:: BAZ2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.159626000_159626001insA, NC_000002.12:g.159626000_159626001insAA, NC_000002.11:g.160482511_160482512insA, NC_000002.11:g.160482511_160482512insAA, NG_051314.1:g.91439_91440insT, NG_051314.1:g.91439_91440insTT

Select item 149155638610.

rs1491556386 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:159676952 (GRCh38)
2:160533463 (GRCh37)
Canonical SPDI:: NC_000002.12:159676951:TT:
Gene:: BAZ2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/1 (GnomAD)
HGVS:: NC_000002.12:g.159676952_159676953del, NC_000002.11:g.160533463_160533464del, NG_051314.1:g.40487_40488del

Select item 149154271811.

rs1491542718 [Homo sapiens]

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

Select item 149153529112.

rs1491535291 has merged into rs1186829261 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 2:159501203 (GRCh38)
2:160357714 (GRCh37)
Canonical SPDI:: NC_000002.12:159501201:TTTTT:T,NC_000002.12:159501201:TTTTT:TT,NC_000002.12:159501201:TTTTT:TTT,NC_000002.12:159501201:TTTTT:TTTT,NC_000002.12:159501201:TTTTT:TTTTTT
Gene:: BAZ2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00062/1 (Korea1K)
-=0.00067/11 (TOMMO)
HGVS:: NC_000002.12:g.159501203_159501206del, NC_000002.12:g.159501204_159501206del, NC_000002.12:g.159501205_159501206del, NC_000002.12:g.159501206del, NC_000002.12:g.159501206dup, NC_000002.11:g.160357714_160357717del, NC_000002.11:g.160357715_160357717del, NC_000002.11:g.160357716_160357717del, NC_000002.11:g.160357717del, NC_000002.11:g.160357717dup, NG_051314.1:g.216235_216238del, NG_051314.1:g.216236_216238del, NG_051314.1:g.216237_216238del, NG_051314.1:g.216238del, NG_051314.1:g.216238dup

Select item 149152136613.

rs1491521366 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:159335543 (GRCh38)
2:160192054 (GRCh37)
Canonical SPDI:: NC_000002.12:159335542:CA:
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0317/376 (ALFA)
-=0.00386/109 (TOMMO)
HGVS:: NC_000002.12:g.159335543_159335544del, NC_000002.11:g.160192054_160192055del, NG_051314.1:g.381896_381897del

Select item 149150355614.

rs1491503556 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:159344027 (GRCh38)
2:160200538 (GRCh37)
Canonical SPDI:: NC_000002.12:159344026:CA:
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.05471/649 (ALFA)
-=0.0038/66 (GnomAD)
-=0.00558/90 (TOMMO)
HGVS:: NC_000002.12:g.159344027_159344028del, NC_000002.11:g.160200538_160200539del, NG_051314.1:g.373412_373413del

Select item 149149880815.

rs1491498808 has merged into rs1553472909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 2:159325074 (GRCh38)
2:160181585 (GRCh37)
Canonical SPDI:: NC_000002.12:159325060:TATATATATATATATAT:TATATATATATAT,NC_000002.12:159325060:TATATATATATATATAT:TATATATATATATAT,NC_000002.12:159325060:TATATATATATATATAT:TATATATATATATATATAT,NC_000002.12:159325060:TATATATATATATATAT:TATATATATATATATATATAT
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATATATATATAT=0./0 (ALFA)
-=0.01083/18 (GnomAD)
HGVS:: NC_000002.12:g.159325062AT[6], NC_000002.12:g.159325062AT[7], NC_000002.12:g.159325062AT[9], NC_000002.12:g.159325062AT[10], NC_000002.11:g.160181573AT[6], NC_000002.11:g.160181573AT[7], NC_000002.11:g.160181573AT[9], NC_000002.11:g.160181573AT[10], NG_051314.1:g.392364TA[6], NG_051314.1:g.392364TA[7], NG_051314.1:g.392364TA[9], NG_051314.1:g.392364TA[10]

Select item 149149764416.

rs1491497644 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:159491720 (GRCh38)
2:160348232 (GRCh37)
Canonical SPDI:: NC_000002.12:159491720:AAAAAAA:AAAAAAATAAAAAAAAAAAAA
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAATAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAATAAAAAA=0.0004/11 (GnomAD)
HGVS:: NC_000002.12:g.159491721_159491727A[7]TAAAAAAAAAAAAA[1], NC_000002.11:g.160348232_160348238A[7]TAAAAAAAAAAAAA[1], NG_051314.1:g.225713_225719T[13]ATTTTTTT[1]

Select item 149148970917.

rs1491489709 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:159501174 (GRCh38)
2:160357685 (GRCh37)
Canonical SPDI:: NC_000002.12:159501173:TT:
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000002.12:g.159501174_159501175del, NC_000002.11:g.160357685_160357686del, NG_051314.1:g.216265_216266del

Select item 149148188018.

rs1491481880 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:159491720 (GRCh38)
2:160348231 (GRCh37)
Canonical SPDI:: NC_000002.12:159491719:CA:
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00717/85 (ALFA)
-=0.0042/54 (TOMMO)
HGVS:: NC_000002.12:g.159491720_159491721del, NC_000002.11:g.160348231_160348232del, NG_051314.1:g.225719_225720del

Select item 149146401319.

rs1491464013 has merged into rs66698312 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCG>-,CG,CGCGCG,CGCGCGCG,CGCGCGCGCG [Show Flanks]
Chromosome:: 2:159604953 (GRCh38)
2:160461464 (GRCh37)
Canonical SPDI:: NC_000002.12:159604951:GCGCG:G,NC_000002.12:159604951:GCGCG:GCG,NC_000002.12:159604951:GCGCG:GCGCGCG,NC_000002.12:159604951:GCGCG:GCGCGCGCG,NC_000002.12:159604951:GCGCG:GCGCGCGCGCG
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000002.12:g.159604953_159604956del, NC_000002.12:g.159604953CG[1], NC_000002.12:g.159604953CG[3], NC_000002.12:g.159604953CG[4], NC_000002.12:g.159604953CG[5], NC_000002.11:g.160461464_160461467del, NC_000002.11:g.160461464CG[1], NC_000002.11:g.160461464CG[3], NC_000002.11:g.160461464CG[4], NC_000002.11:g.160461464CG[5], NG_051314.1:g.112485_112488del, NG_051314.1:g.112485GC[1], NG_051314.1:g.112485GC[3], NG_051314.1:g.112485GC[4], NG_051314.1:g.112485GC[5]

Select item 149142347920.

rs1491423479 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:159328070 (GRCh38)
2:160184581 (GRCh37)
Canonical SPDI:: NC_000002.12:159328069:GA:
Gene:: BAZ2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000079/8 (GnomAD)
HGVS:: NC_000002.12:g.159328070_159328071del, NC_000002.11:g.160184581_160184582del, NG_051314.1:g.389369_389370del

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