SNP Links for Nucleotide (Select 427918127) - SNP

Links from Nucleotide

Items: 1 to 20 of 8623

<< First< Prev

Page of 432

Next >Last >>

Select item 14915452971.

rs1491545297 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:28483739 (GRCh38)
16:28495060 (GRCh37)
Canonical SPDI:: NC_000016.10:28483738:TG:
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.28483739_28483740del, NC_000016.9:g.28495060_28495061del, NG_008654.2:g.13563_13564del

Select item 14915317372.

rs1491531737 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACATATAT,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 16:28488324 (GRCh38)
16:28499646 (GRCh37)
Canonical SPDI:: NC_000016.10:28488324:T:TACATATAT,NC_000016.10:28488324:T:TAT,NC_000016.10:28488324:T:TATAT,NC_000016.10:28488324:T:TATATAT,NC_000016.10:28488324:T:TATATATAT,NC_000016.10:28488324:T:TATATATATAT,NC_000016.10:28488324:T:TATATATATATAT,NC_000016.10:28488324:T:TATATATATATATAT
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000016.10:g.28488325_28488326insACATATAT, NC_000016.10:g.28488325_28488326insAT, NC_000016.10:g.28488325_28488326insATAT, NC_000016.10:g.28488326AT[3], NC_000016.10:g.28488326AT[4], NC_000016.10:g.28488326AT[5], NC_000016.10:g.28488326AT[6], NC_000016.10:g.28488326AT[7], NC_000016.9:g.28499646_28499647insACATATAT, NC_000016.9:g.28499646_28499647insAT, NC_000016.9:g.28499646_28499647insATAT, NC_000016.9:g.28499647AT[3], NC_000016.9:g.28499647AT[4], NC_000016.9:g.28499647AT[5], NC_000016.9:g.28499647AT[6], NC_000016.9:g.28499647AT[7], NG_008654.2:g.8978AT[3]GTA[1], NG_008654.2:g.8978_8979insTA, NG_008654.2:g.8978_8979insTATA, NG_008654.2:g.8979TA[3], NG_008654.2:g.8979TA[4], NG_008654.2:g.8979TA[5], NG_008654.2:g.8979TA[6], NG_008654.2:g.8979TA[7]

Select item 14915282153.

rs1491528215 [Homo sapiens]

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

Select item 14915096664.

rs1491509666 has merged into rs755660742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:28483724 (GRCh38)
16:28495045 (GRCh37)
Canonical SPDI:: NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:28483713:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000016.10:g.28483724_28483739del, NC_000016.10:g.28483725_28483739del, NC_000016.10:g.28483726_28483739del, NC_000016.10:g.28483727_28483739del, NC_000016.10:g.28483728_28483739del, NC_000016.10:g.28483729_28483739del, NC_000016.10:g.28483730_28483739del, NC_000016.10:g.28483731_28483739del, NC_000016.10:g.28483732_28483739del, NC_000016.10:g.28483733_28483739del, NC_000016.10:g.28483734_28483739del, NC_000016.10:g.28483735_28483739del, NC_000016.10:g.28483736_28483739del, NC_000016.10:g.28483737_28483739del, NC_000016.10:g.28483738_28483739del, NC_000016.10:g.28483739del, NC_000016.10:g.28483739dup, NC_000016.10:g.28483738_28483739dup, NC_000016.10:g.28483737_28483739dup, NC_000016.10:g.28483736_28483739dup, NC_000016.10:g.28483735_28483739dup, NC_000016.10:g.28483734_28483739dup, NC_000016.10:g.28483733_28483739dup, NC_000016.10:g.28483732_28483739dup, NC_000016.10:g.28483731_28483739dup, NC_000016.10:g.28483730_28483739dup, NC_000016.10:g.28483729_28483739dup, NC_000016.10:g.28483728_28483739dup, NC_000016.9:g.28495045_28495060del, NC_000016.9:g.28495046_28495060del, NC_000016.9:g.28495047_28495060del, NC_000016.9:g.28495048_28495060del, NC_000016.9:g.28495049_28495060del, NC_000016.9:g.28495050_28495060del, NC_000016.9:g.28495051_28495060del, NC_000016.9:g.28495052_28495060del, NC_000016.9:g.28495053_28495060del, NC_000016.9:g.28495054_28495060del, NC_000016.9:g.28495055_28495060del, NC_000016.9:g.28495056_28495060del, NC_000016.9:g.28495057_28495060del, NC_000016.9:g.28495058_28495060del, NC_000016.9:g.28495059_28495060del, NC_000016.9:g.28495060del, NC_000016.9:g.28495060dup, NC_000016.9:g.28495059_28495060dup, NC_000016.9:g.28495058_28495060dup, NC_000016.9:g.28495057_28495060dup, NC_000016.9:g.28495056_28495060dup, NC_000016.9:g.28495055_28495060dup, NC_000016.9:g.28495054_28495060dup, NC_000016.9:g.28495053_28495060dup, NC_000016.9:g.28495052_28495060dup, NC_000016.9:g.28495051_28495060dup, NC_000016.9:g.28495050_28495060dup, NC_000016.9:g.28495049_28495060dup, NG_008654.2:g.13574_13589del, NG_008654.2:g.13575_13589del, NG_008654.2:g.13576_13589del, NG_008654.2:g.13577_13589del, NG_008654.2:g.13578_13589del, NG_008654.2:g.13579_13589del, NG_008654.2:g.13580_13589del, NG_008654.2:g.13581_13589del, NG_008654.2:g.13582_13589del, NG_008654.2:g.13583_13589del, NG_008654.2:g.13584_13589del, NG_008654.2:g.13585_13589del, NG_008654.2:g.13586_13589del, NG_008654.2:g.13587_13589del, NG_008654.2:g.13588_13589del, NG_008654.2:g.13589del, NG_008654.2:g.13589dup, NG_008654.2:g.13588_13589dup, NG_008654.2:g.13587_13589dup, NG_008654.2:g.13586_13589dup, NG_008654.2:g.13585_13589dup, NG_008654.2:g.13584_13589dup, NG_008654.2:g.13583_13589dup, NG_008654.2:g.13582_13589dup, NG_008654.2:g.13581_13589dup, NG_008654.2:g.13580_13589dup, NG_008654.2:g.13579_13589dup, NG_008654.2:g.13578_13589dup

Select item 14913805945.

rs1491380594 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 16:28481455 (GRCh38)
16:28492777 (GRCh37)
Canonical SPDI:: NC_000016.10:28481455:A:ATA
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000016.10:g.28481456_28481457insTA, NC_000016.9:g.28492777_28492778insTA, NG_008654.2:g.15847_15848insAT

Select item 14913226256.

rs1491322625 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 16:28495182 (GRCh38)
16:28506503 (GRCh37)
Canonical SPDI:: NC_000016.10:28495181:GGGGG:GGGG,NC_000016.10:28495181:GGGGG:GGGGGG
Gene:: APOBR (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.28495186del, NC_000016.10:g.28495186dup, NC_000016.9:g.28506507del, NC_000016.9:g.28506507dup, NG_008654.2:g.2121del, NG_008654.2:g.2121dup, NM_018690.4:c.145del, NM_018690.4:c.145dup, NM_018690.3:c.145del, NM_018690.3:c.145dup, NM_182804.1:c.145del, NM_182804.1:c.145dup, NP_061160.3:p.Val49fs, NP_061160.3:p.Val49fs

Select item 14912728427.

rs1491272842 [Homo sapiens]

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

Select item 14911590968.

rs1491159096 has merged into rs59962005 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 16:28488052 (GRCh38)
16:28499373 (GRCh37)
Canonical SPDI:: NC_000016.10:28488040:TATATATATATATAT:TATATATATAT,NC_000016.10:28488040:TATATATATATATAT:TATATATATATAT,NC_000016.10:28488040:TATATATATATATAT:TATATATATATATATAT,NC_000016.10:28488040:TATATATATATATAT:TATATATATATATATATAT
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.00871/39 (Estonian)
TA=0.015/9 (NorthernSweden)
TA=0.05294/265 (1000Genomes)
TA=0.15566/33 (Vietnamese)
HGVS:: NC_000016.10:g.28488042AT[5], NC_000016.10:g.28488042AT[6], NC_000016.10:g.28488042AT[8], NC_000016.10:g.28488042AT[9], NC_000016.9:g.28499363AT[5], NC_000016.9:g.28499363AT[6], NC_000016.9:g.28499363AT[8], NC_000016.9:g.28499363AT[9], NG_008654.2:g.9249TA[5], NG_008654.2:g.9249TA[6], NG_008654.2:g.9249TA[8], NG_008654.2:g.9249TA[9]

Select item 14911433519.

rs1491143351 has merged into rs1555468007 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 16:28481454 (GRCh38)
16:28492775 (GRCh37)
Canonical SPDI:: NC_000016.10:28481452:CGC:C,NC_000016.10:28481452:CGC:CGCGC
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
-=0.0006/10 (TOMMO)
-=0.00382/7 (Korea1K)
HGVS:: NC_000016.10:g.28481454_28481455del, NC_000016.10:g.28481454_28481455dup, NC_000016.9:g.28492775_28492776del, NC_000016.9:g.28492775_28492776dup, NG_008654.2:g.15849_15850del, NG_008654.2:g.15849_15850dup

Select item 149098259410.

rs1490982594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28465779 (GRCh38)
16:28477100 (GRCh37)
Canonical SPDI:: NC_000016.10:28465778:C:T
Gene:: NPIPB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/2 (GnomAD)
HGVS:: NC_000016.10:g.28465779C>T, NC_000016.9:g.28477100C>T, NG_008654.2:g.31524G>A

Select item 149096677011.

rs1490966770 has merged into rs766238150 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:28478627 (GRCh38)
16:28489948 (GRCh37)
Canonical SPDI:: NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28478617:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.28478627_28478646del, NC_000016.10:g.28478632_28478646del, NC_000016.10:g.28478633_28478646del, NC_000016.10:g.28478634_28478646del, NC_000016.10:g.28478635_28478646del, NC_000016.10:g.28478636_28478646del, NC_000016.10:g.28478637_28478646del, NC_000016.10:g.28478638_28478646del, NC_000016.10:g.28478639_28478646del, NC_000016.10:g.28478640_28478646del, NC_000016.10:g.28478641_28478646del, NC_000016.10:g.28478642_28478646del, NC_000016.10:g.28478643_28478646del, NC_000016.10:g.28478644_28478646del, NC_000016.10:g.28478645_28478646del, NC_000016.10:g.28478646del, NC_000016.10:g.28478646dup, NC_000016.10:g.28478645_28478646dup, NC_000016.10:g.28478644_28478646dup, NC_000016.10:g.28478643_28478646dup, NC_000016.10:g.28478642_28478646dup, NC_000016.10:g.28478641_28478646dup, NC_000016.10:g.28478640_28478646dup, NC_000016.10:g.28478639_28478646dup, NC_000016.10:g.28478638_28478646dup, NC_000016.10:g.28478637_28478646dup, NC_000016.10:g.28478636_28478646dup, NC_000016.10:g.28478635_28478646dup, NC_000016.10:g.28478634_28478646dup, NC_000016.10:g.28478633_28478646dup, NC_000016.10:g.28478632_28478646dup, NC_000016.10:g.28478631_28478646dup, NC_000016.10:g.28478630_28478646dup, NC_000016.10:g.28478629_28478646dup, NC_000016.10:g.28478628_28478646dup, NC_000016.10:g.28478627_28478646dup, NC_000016.10:g.28478626_28478646dup, NC_000016.10:g.28478625_28478646dup, NC_000016.10:g.28478624_28478646dup, NC_000016.10:g.28478622_28478646dup, NC_000016.9:g.28489948_28489967del, NC_000016.9:g.28489953_28489967del, NC_000016.9:g.28489954_28489967del, NC_000016.9:g.28489955_28489967del, NC_000016.9:g.28489956_28489967del, NC_000016.9:g.28489957_28489967del, NC_000016.9:g.28489958_28489967del, NC_000016.9:g.28489959_28489967del, NC_000016.9:g.28489960_28489967del, NC_000016.9:g.28489961_28489967del, NC_000016.9:g.28489962_28489967del, NC_000016.9:g.28489963_28489967del, NC_000016.9:g.28489964_28489967del, NC_000016.9:g.28489965_28489967del, NC_000016.9:g.28489966_28489967del, NC_000016.9:g.28489967del, NC_000016.9:g.28489967dup, NC_000016.9:g.28489966_28489967dup, NC_000016.9:g.28489965_28489967dup, NC_000016.9:g.28489964_28489967dup, NC_000016.9:g.28489963_28489967dup, NC_000016.9:g.28489962_28489967dup, NC_000016.9:g.28489961_28489967dup, NC_000016.9:g.28489960_28489967dup, NC_000016.9:g.28489959_28489967dup, NC_000016.9:g.28489958_28489967dup, NC_000016.9:g.28489957_28489967dup, NC_000016.9:g.28489956_28489967dup, NC_000016.9:g.28489955_28489967dup, NC_000016.9:g.28489954_28489967dup, NC_000016.9:g.28489953_28489967dup, NC_000016.9:g.28489952_28489967dup, NC_000016.9:g.28489951_28489967dup, NC_000016.9:g.28489950_28489967dup, NC_000016.9:g.28489949_28489967dup, NC_000016.9:g.28489948_28489967dup, NC_000016.9:g.28489947_28489967dup, NC_000016.9:g.28489946_28489967dup, NC_000016.9:g.28489945_28489967dup, NC_000016.9:g.28489943_28489967dup, NG_008654.2:g.18666_18685del, NG_008654.2:g.18671_18685del, NG_008654.2:g.18672_18685del, NG_008654.2:g.18673_18685del, NG_008654.2:g.18674_18685del, NG_008654.2:g.18675_18685del, NG_008654.2:g.18676_18685del, NG_008654.2:g.18677_18685del, NG_008654.2:g.18678_18685del, NG_008654.2:g.18679_18685del, NG_008654.2:g.18680_18685del, NG_008654.2:g.18681_18685del, NG_008654.2:g.18682_18685del, NG_008654.2:g.18683_18685del, NG_008654.2:g.18684_18685del, NG_008654.2:g.18685del, NG_008654.2:g.18685dup, NG_008654.2:g.18684_18685dup, NG_008654.2:g.18683_18685dup, NG_008654.2:g.18682_18685dup, NG_008654.2:g.18681_18685dup, NG_008654.2:g.18680_18685dup, NG_008654.2:g.18679_18685dup, NG_008654.2:g.18678_18685dup, NG_008654.2:g.18677_18685dup, NG_008654.2:g.18676_18685dup, NG_008654.2:g.18675_18685dup, NG_008654.2:g.18674_18685dup, NG_008654.2:g.18673_18685dup, NG_008654.2:g.18672_18685dup, NG_008654.2:g.18671_18685dup, NG_008654.2:g.18670_18685dup, NG_008654.2:g.18669_18685dup, NG_008654.2:g.18668_18685dup, NG_008654.2:g.18667_18685dup, NG_008654.2:g.18666_18685dup, NG_008654.2:g.18665_18685dup, NG_008654.2:g.18664_18685dup, NG_008654.2:g.18663_18685dup, NG_008654.2:g.18661_18685dup

Select item 149092677712.

rs1490926777 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 16:28464805 (GRCh38)
16:28476126 (GRCh37)
Canonical SPDI:: NC_000016.10:28464803:TTT:T
Gene:: NPIPB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28464805_28464806del, NC_000016.9:g.28476126_28476127del, NG_008654.2:g.32498_32499del

Select item 149076284413.

rs1490762844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:28485213 (GRCh38)
16:28496534 (GRCh37)
Canonical SPDI:: NC_000016.10:28485212:G:T
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28485213G>T, NC_000016.9:g.28496534G>T, NG_008654.2:g.12090C>A

Select item 149066753914.

rs1490667539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28470589 (GRCh38)
16:28481910 (GRCh37)
Canonical SPDI:: NC_000016.10:28470588:G:A
Gene:: CLN3 (Varview), NPIPB7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000016.10:g.28470589G>A, NC_000016.9:g.28481910G>A, NG_008654.2:g.26714C>T, NM_001396030.1:c.-151C>T

Select item 149065649815.

rs1490656498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:28486458 (GRCh38)
16:28497779 (GRCh37)
Canonical SPDI:: NC_000016.10:28486457:C:G
Gene:: CLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.28486458C>G, NC_000016.9:g.28497779C>G, NG_008654.2:g.10845G>C, NM_001286110.2:c.404G>C, NM_001286110.1:c.404G>C, NM_001286105.2:c.266G>C, NM_001286105.1:c.266G>C, NM_001286104.2:c.494G>C, NM_001286104.1:c.494G>C, NM_000086.2:c.566G>C, NM_001286109.2:c.332G>C, NM_001286109.1:c.332G>C, NM_001042432.2:c.566G>C, NM_001042432.1:c.566G>C, NP_001273039.1:p.Gly135Ala, NP_001273034.1:p.Gly89Ala, NP_001273033.1:p.Gly165Ala, NP_000077.1:p.Gly189Ala, NP_001273038.1:p.Gly111Ala, NP_001035897.1:p.Gly189Ala

Select item 149062155916.

rs1490621559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28469475 (GRCh38)
16:28480796 (GRCh37)
Canonical SPDI:: NC_000016.10:28469474:G:A
Gene:: CLN3 (Varview), NPIPB7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000367/6 (ALFA)
A=0.000345/47 (GnomAD)
HGVS:: NC_000016.10:g.28469475G>A, NC_000016.9:g.28480796G>A, NG_008654.2:g.27828C>T

Select item 149060000817.

rs1490600008 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:28485587 (GRCh38)
16:28496909 (GRCh37)
Canonical SPDI:: NC_000016.10:28485587::G
Gene:: CLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28485587_28485588insG, NC_000016.9:g.28496908_28496909insG, NG_008654.2:g.11715_11716insC

Select item 149041606218.

rs1490416062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:28468097 (GRCh38)
16:28479418 (GRCh37)
Canonical SPDI:: NC_000016.10:28468096:C:G,NC_000016.10:28468096:C:T
Gene:: CLN3 (Varview), NPIPB7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28468097C>G, NC_000016.10:g.28468097C>T, NC_000016.9:g.28479418C>G, NC_000016.9:g.28479418C>T, NG_008654.2:g.29206G>C, NG_008654.2:g.29206G>A

Select item 149030656819.

rs1490306568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:28495249 (GRCh38)
16:28506570 (GRCh37)
Canonical SPDI:: NC_000016.10:28495248:C:A
Gene:: APOBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28495249C>A, NC_000016.9:g.28506570C>A, NG_008654.2:g.2054G>T, NM_018690.4:c.208C>A, NM_018690.3:c.208C>A, NM_182804.1:c.208C>A, NP_061160.3:p.Leu70Ile

Select item 149029741420.

rs1490297414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28493945 (GRCh38)
16:28505266 (GRCh37)
Canonical SPDI:: NC_000016.10:28493944:C:T
Gene:: CLN3 (Varview), APOBR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.28493945C>T, NC_000016.9:g.28505266C>T, NG_008654.2:g.3358G>A

<< First< Prev

Page of 432

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 8623

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity