SNP Links for Nucleotide (Select 312147266) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

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Select item 14915847911.

rs1491584791 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:99191415 (GRCh38)
14:99657753 (GRCh37)
Canonical SPDI:: NC_000014.9:99191415::G
Gene:: BCL11B (Varview)
Functional Consequence:: intron_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_000014.9:g.99191415_99191416insG, NC_000014.8:g.99657752_99657753insG, NG_027894.1:g.85070_85071insC

Select item 14915801742.

rs1491580174 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:99269516 (GRCh38)
14:99735854 (GRCh37)
Canonical SPDI:: NC_000014.9:99269516::A
Gene:: BCL11B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.99269516_99269517insA, NC_000014.8:g.99735853_99735854insA, NG_027894.1:g.6969_6970insT

Select item 14915800603.

rs1491580060 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:99222841 (GRCh38)
14:99689178 (GRCh37)
Canonical SPDI:: NC_000014.9:99222839:TCT:T
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.99222841_99222842del, NC_000014.8:g.99689178_99689179del, NG_027894.1:g.53645_53646del

Select item 14915672424.

rs1491567242 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC [Show Flanks]
Chromosome:: 14:99267545 (GRCh38)
14:99733883 (GRCh37)
Canonical SPDI:: NC_000014.9:99267545:C:CAC,NC_000014.9:99267545:C:CGC
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000014.9:g.99267546_99267547insAC, NC_000014.9:g.99267546_99267547insGC, NC_000014.8:g.99733883_99733884insAC, NC_000014.8:g.99733883_99733884insGC, NG_027894.1:g.8940_8941insTG, NG_027894.1:g.8940_8941insCG

Select item 14915659975.

rs1491565997 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 14:99248297 (GRCh38)
14:99714634 (GRCh37)
Canonical SPDI:: NC_000014.9:99248296:CG:
Gene:: BCL11B (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_000014.9:g.99248297_99248298del, NC_000014.8:g.99714634_99714635del, NG_027894.1:g.28188_28189del

Select item 14915586896.

rs1491558689 has merged into rs1555378683 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 14:99199686 (GRCh38)
14:99666023 (GRCh37)
Canonical SPDI:: NC_000014.9:99199683:GCGCGCGCGCGCGC:GC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000014.9:99199683:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC
Gene:: BCL11B (Varview), LOC124903412 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0./0 (ALFA)
GC=0.02426/685 (TOMMO)
HGVS:: NC_000014.9:g.99199684GC[1], NC_000014.9:g.99199684GC[2], NC_000014.9:g.99199684GC[3], NC_000014.9:g.99199684GC[4], NC_000014.9:g.99199684GC[5], NC_000014.9:g.99199684GC[6], NC_000014.9:g.99199684GC[8], NC_000014.9:g.99199684GC[9], NC_000014.9:g.99199684GC[10], NC_000014.9:g.99199684GC[11], NC_000014.9:g.99199684GC[12], NC_000014.9:g.99199684GC[13], NC_000014.9:g.99199684GC[14], NC_000014.9:g.99199684GC[15], NC_000014.8:g.99666021GC[1], NC_000014.8:g.99666021GC[2], NC_000014.8:g.99666021GC[3], NC_000014.8:g.99666021GC[4], NC_000014.8:g.99666021GC[5], NC_000014.8:g.99666021GC[6], NC_000014.8:g.99666021GC[8], NC_000014.8:g.99666021GC[9], NC_000014.8:g.99666021GC[10], NC_000014.8:g.99666021GC[11], NC_000014.8:g.99666021GC[12], NC_000014.8:g.99666021GC[13], NC_000014.8:g.99666021GC[14], NC_000014.8:g.99666021GC[15], NG_027894.1:g.76789GC[1], NG_027894.1:g.76789GC[2], NG_027894.1:g.76789GC[3], NG_027894.1:g.76789GC[4], NG_027894.1:g.76789GC[5], NG_027894.1:g.76789GC[6], NG_027894.1:g.76789GC[8], NG_027894.1:g.76789GC[9], NG_027894.1:g.76789GC[10], NG_027894.1:g.76789GC[11], NG_027894.1:g.76789GC[12], NG_027894.1:g.76789GC[13], NG_027894.1:g.76789GC[14], NG_027894.1:g.76789GC[15], XR_007064392.1:n.14591GC[1], XR_007064392.1:n.14591GC[2], XR_007064392.1:n.14591GC[3], XR_007064392.1:n.14591GC[4], XR_007064392.1:n.14591GC[5], XR_007064392.1:n.14591GC[6], XR_007064392.1:n.14591GC[8], XR_007064392.1:n.14591GC[9], XR_007064392.1:n.14591GC[10], XR_007064392.1:n.14591GC[11], XR_007064392.1:n.14591GC[12], XR_007064392.1:n.14591GC[13], XR_007064392.1:n.14591GC[14], XR_007064392.1:n.14591GC[15]

Select item 14915121077.

rs1491512107 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACACACACACACAT,ACACACACACACAT,AT [Show Flanks]
Chromosome:: 14:99217417 (GRCh38)
14:99683755 (GRCh37)
Canonical SPDI:: NC_000014.9:99217417::ACACACACACACACAT,NC_000014.9:99217417::ACACACACACACAT,NC_000014.9:99217417::AT
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
ACACACACACACAT=0.00031/2 (1000Genomes)
HGVS:: NC_000014.9:g.99217417_99217418insACACACACACACACAT, NC_000014.9:g.99217417_99217418insACACACACACACAT, NC_000014.9:g.99217417_99217418insAT, NC_000014.8:g.99683754_99683755insACACACACACACACAT, NC_000014.8:g.99683754_99683755insACACACACACACAT, NC_000014.8:g.99683754_99683755insAT, NG_027894.1:g.59068_59069insATGTGTGTGTGTGTGT, NG_027894.1:g.59068_59069insATGTGTGTGTGTGT, NG_027894.1:g.59068_59069insAT

Select item 14914369788.

rs1491436978 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:99187661 (GRCh38)
14:99653999 (GRCh37)
Canonical SPDI:: NC_000014.9:99187661::A
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00108/61 (GnomAD)
HGVS:: NC_000014.9:g.99187661_99187662insA, NC_000014.8:g.99653998_99653999insA, NG_027894.1:g.88824_88825insT

Select item 14913665179.

rs1491366517 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:99269526 (GRCh38)
14:99735863 (GRCh37)
Canonical SPDI:: NC_000014.9:99269525:CA:
Gene:: BCL11B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00177/21 (ALFA)
-=0.00364/287 (GnomAD)
HGVS:: NC_000014.9:g.99269526_99269527del, NC_000014.8:g.99735863_99735864del, NG_027894.1:g.6959_6960del

Select item 149135260310.

rs1491352603 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC,TC [Show Flanks]
Chromosome:: 14:99267552 (GRCh38)
14:99733890 (GRCh37)
Canonical SPDI:: NC_000014.9:99267552:C:CAC,NC_000014.9:99267552:C:CGC,NC_000014.9:99267552:C:CTC
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CA=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.99267553_99267554insAC, NC_000014.9:g.99267553_99267554insGC, NC_000014.9:g.99267553_99267554insTC, NC_000014.8:g.99733890_99733891insAC, NC_000014.8:g.99733890_99733891insGC, NC_000014.8:g.99733890_99733891insTC, NG_027894.1:g.8933_8934insTG, NG_027894.1:g.8933_8934insCG, NG_027894.1:g.8933_8934insAG

Select item 149134684911.

rs1491346849 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:99179473 (GRCh38)
14:99645810 (GRCh37)
Canonical SPDI:: NC_000014.9:99179472:TA:
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000014.9:g.99179473_99179474del, NC_000014.8:g.99645810_99645811del, NG_027894.1:g.97012_97013del

Select item 149134012712.

rs1491340127 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: 14:99179473 (GRCh38)
14:99645811 (GRCh37)
Canonical SPDI:: NC_000014.9:99179473::TA
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TA=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.99179473_99179474insTA, NC_000014.8:g.99645810_99645811insTA, NG_027894.1:g.97012_97013insTA

Select item 149127952213.

rs1491279522 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 14:99267546 (GRCh38)
14:99733884 (GRCh37)
Canonical SPDI:: NC_000014.9:99267546::A,NC_000014.9:99267546::G
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000063/1 (GnomAD)
HGVS:: NC_000014.9:g.99267546_99267547insA, NC_000014.9:g.99267546_99267547insG, NC_000014.8:g.99733883_99733884insA, NC_000014.8:g.99733883_99733884insG, NG_027894.1:g.8939_8940insT, NG_027894.1:g.8939_8940insC

Select item 149124263714.

rs1491242637 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 14:99267555 (GRCh38)
14:99733892 (GRCh37)
Canonical SPDI:: NC_000014.9:99267553:CAC:C
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000014.9:g.99267555_99267556del, NC_000014.8:g.99733892_99733893del, NG_027894.1:g.8931_8932del

Select item 149123688915.

rs1491236889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 14:99248297 (GRCh38)
14:99714635 (GRCh37)
Canonical SPDI:: NC_000014.9:99248297:GGG:GGGGG
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0.000071/1 (ALFA)
GG=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.99248299_99248300dup, NC_000014.8:g.99714636_99714637dup, NG_027894.1:g.28187_28188dup

Select item 149123109816.

rs1491231098 has merged into rs1429292108 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 14:99267544 (GRCh38)
14:99733881 (GRCh37)
Canonical SPDI:: NC_000014.9:99267542:CAC:C,NC_000014.9:99267542:CAC:CACAC
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03414/405 (ALFA)
-=0.00849/68 (TOMMO)
-=0.35059/1300 (TWINSUK)
HGVS:: NC_000014.9:g.99267544_99267545del, NC_000014.9:g.99267544_99267545dup, NC_000014.8:g.99733881_99733882del, NC_000014.8:g.99733881_99733882dup, NG_027894.1:g.8942_8943del, NG_027894.1:g.8942_8943dup

Select item 149122184417.

rs1491221844 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:99191416 (GRCh38)
14:99657753 (GRCh37)
Canonical SPDI:: NC_000014.9:99191414:ATA:A
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.99191416_99191417del, NC_000014.8:g.99657753_99657754del, NG_027894.1:g.85070_85071del

Select item 149119341018.

rs1491193410 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:99250034 (GRCh38)
14:99716372 (GRCh37)
Canonical SPDI:: NC_000014.9:99250034::G
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00007/2 (GnomAD)
HGVS:: NC_000014.9:g.99250034_99250035insG, NC_000014.8:g.99716371_99716372insG, NG_027894.1:g.26451_26452insC

Select item 149113962119.

rs1491139621 [Homo sapiens]

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

Select item 149113028820.

rs1491130288 has merged into rs35826122 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:99250043 (GRCh38)
14:99716380 (GRCh37)
Canonical SPDI:: NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:99250033:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCL11B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.99250043_99250053del, NC_000014.9:g.99250044_99250053del, NC_000014.9:g.99250045_99250053del, NC_000014.9:g.99250047_99250053del, NC_000014.9:g.99250048_99250053del, NC_000014.9:g.99250051_99250053del, NC_000014.9:g.99250052_99250053del, NC_000014.9:g.99250053del, NC_000014.9:g.99250053dup, NC_000014.9:g.99250052_99250053dup, NC_000014.9:g.99250051_99250053dup, NC_000014.9:g.99250050_99250053dup, NC_000014.9:g.99250049_99250053dup, NC_000014.8:g.99716380_99716390del, NC_000014.8:g.99716381_99716390del, NC_000014.8:g.99716382_99716390del, NC_000014.8:g.99716384_99716390del, NC_000014.8:g.99716385_99716390del, NC_000014.8:g.99716388_99716390del, NC_000014.8:g.99716389_99716390del, NC_000014.8:g.99716390del, NC_000014.8:g.99716390dup, NC_000014.8:g.99716389_99716390dup, NC_000014.8:g.99716388_99716390dup, NC_000014.8:g.99716387_99716390dup, NC_000014.8:g.99716386_99716390dup, NG_027894.1:g.26442_26452del, NG_027894.1:g.26443_26452del, NG_027894.1:g.26444_26452del, NG_027894.1:g.26446_26452del, NG_027894.1:g.26447_26452del, NG_027894.1:g.26450_26452del, NG_027894.1:g.26451_26452del, NG_027894.1:g.26452del, NG_027894.1:g.26452dup, NG_027894.1:g.26451_26452dup, NG_027894.1:g.26450_26452dup, NG_027894.1:g.26449_26452dup, NG_027894.1:g.26448_26452dup

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