SNP Links for Nucleotide (Select 568815371) - SNP

Links from Nucleotide

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Select item 14915890111.

rs1491589011 has merged into rs113693405 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 22:22556006 (GRCh38)
22:22898427 (GRCh37)
Canonical SPDI:: NC_000022.11:22555993:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:22555993:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:22555993:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:22555993:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:22555993:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:22555993:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: PRAME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1117/67 (NorthernSweden)
HGVS:: NC_000022.11:g.22556006_22556009del, NC_000022.11:g.22556007_22556009del, NC_000022.11:g.22556008_22556009del, NC_000022.11:g.22556009del, NC_000022.11:g.22556009dup, NC_000022.11:g.22556008_22556009dup, NC_000022.10:g.22898429dup, NC_000022.10:g.22898427_22898429del, NC_000022.10:g.22898428_22898429del, NC_000022.10:g.22898429del, NC_000022.10:g.22898428_22898429dup, NC_000022.10:g.22898427_22898429dup, NG_000002.1:g.522417dup, NG_000002.1:g.522415_522417del, NG_000002.1:g.522416_522417del, NG_000002.1:g.522417del, NG_000002.1:g.522416_522417dup, NG_000002.1:g.522415_522417dup, NT_187629.1:g.191663_191666del, NT_187629.1:g.191664_191666del, NT_187629.1:g.191665_191666del, NT_187629.1:g.191666del, NT_187629.1:g.191666dup, NT_187629.1:g.191665_191666dup

Select item 14915868782.

rs1491586878 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 22:22476112 (GRCh38)
22:22830450 (GRCh37)
Canonical SPDI:: NC_000022.11:22476112:T:TCT
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000022.11:g.22476113_22476114insCT, NC_000022.10:g.22830450_22830451insCT, NG_000002.1:g.454438_454439insCT, NT_187629.1:g.111754_111755insCT

Select item 14915807173.

rs1491580717 has merged into rs361803 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 22:22507566 (GRCh38)
22:22861885 (GRCh37)
Canonical SPDI:: NC_000022.11:22507554:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:22507554:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:22507554:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:22507554:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:22507554:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ZNF280B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.11733/31056 (TOPMED)
-=0.175347/101 (NorthernSweden)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000022.11:g.22507566_22507567del, NC_000022.11:g.22507567del, NC_000022.11:g.22507567dup, NC_000022.11:g.22507566_22507567dup, NC_000022.11:g.22507565_22507567dup, NC_000022.10:g.22861885dup, NC_000022.10:g.22861885del, NC_000022.10:g.22861884_22861885dup, NC_000022.10:g.22861883_22861885dup, NC_000022.10:g.22861882_22861885dup, NG_000002.1:g.485873dup, NG_000002.1:g.485873del, NG_000002.1:g.485872_485873dup, NG_000002.1:g.485871_485873dup, NG_000002.1:g.485870_485873dup, NT_187629.1:g.143223_143224del, NT_187629.1:g.143224del, NT_187629.1:g.143224dup, NT_187629.1:g.143223_143224dup, NT_187629.1:g.143222_143224dup

Select item 14915674904.

rs1491567490 has merged into rs56374161 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 22:22578638 (GRCh38)
22:22921100 (GRCh37)
Canonical SPDI:: NC_000022.11:22578631:ATATATAT:ATATAT,NC_000022.11:22578631:ATATATAT:ATATATATAT,NC_000022.11:22578631:ATATATAT:ATATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
-=0.01241/94 (GnomAD)
-=0.08458/2390 (TOMMO)
HGVS:: NC_000022.11:g.22578632AT[3], NC_000022.11:g.22578632AT[5], NC_000022.11:g.22578632AT[6], NC_000022.10:g.22921094AT[4], NC_000022.10:g.22921094AT[6], NC_000022.10:g.22921094AT[7], NG_000002.1:g.545082AT[4], NG_000002.1:g.545082AT[6], NG_000002.1:g.545082AT[7], NT_187629.1:g.214289AT[3], NT_187629.1:g.214289AT[5], NT_187629.1:g.214289AT[6]

Select item 14915514845.

rs1491551484 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 22:22594103 (GRCh38)
22:22936574 (GRCh37)
Canonical SPDI:: NC_000022.11:22594103:A:AAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000007/1 (GnomAD)
AA=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.22594104_22594105insAA, NC_000022.10:g.22936574_22936575insAA, NG_000002.1:g.560562_560563insAA, NT_187629.1:g.229761_229762insAA

Select item 14915395376.

rs1491539537 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:22422700 (GRCh38)
22:22777038 (GRCh37)
Canonical SPDI:: NC_000022.11:22422700:AAAAAA:AAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.22422706dup, NC_000022.10:g.22777043dup, NG_000002.1:g.401031dup, NT_187629.1:g.58344dup

Select item 14915360687.

rs1491536068 [Homo sapiens]

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

Select item 14915214858.

rs1491521485 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:22622087 (GRCh38)
22:22964558 (GRCh37)
Canonical SPDI:: NC_000022.11:22622087::G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.22622087_22622088insG, NC_000022.10:g.22964557_22964558insG, NG_000002.1:g.588545_588546insG, NT_187629.1:g.257744_257745insG

Select item 14915194289.

rs1491519428 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 22:22585947 (GRCh38)
22:22928419 (GRCh37)
Canonical SPDI:: NC_000022.11:22585947::CA
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
HGVS:: NC_000022.11:g.22585947_22585948insCA, NC_000022.10:g.22928418_22928419insCA, NG_000002.1:g.552406_552407insCA, NT_187629.1:g.221604_221605insCA

Select item 149150525310.

rs1491505253 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:22578495 (GRCh38)
22:22920935 (GRCh37)
Canonical SPDI:: NC_000022.11:22578493:TGT:T
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000022.11:g.22578495_22578496del, NC_000022.10:g.22920935_22920936del, NG_000002.1:g.544923_544924del, NT_187629.1:g.214152_214153del

Select item 149149508311.

rs1491495083 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT,TTTCCTTT,TTTCCTTTCTTTCCTTT,TTTT [Show Flanks]
Chromosome:: 22:22585891 (GRCh38)
22:-1 (GRCh37)
Canonical SPDI:: NC_000022.11:22585891::TTT,NC_000022.11:22585891::TTTCCTTT,NC_000022.11:22585891::TTTCCTTTCTTTCCTTT,NC_000022.11:22585891::TTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.22585891_22585892insTTT, NC_000022.11:g.22585891_22585892insTTTCCTTT, NC_000022.11:g.22585891_22585892insTTTCCTTTCTTTCCTTT, NC_000022.11:g.22585891_22585892insTTTT, NT_187629.1:g.221548_221549insTTT, NT_187629.1:g.221548_221549insTTTCCTTT, NT_187629.1:g.221548_221549insTTTCCTTTCTTTCCTTT, NT_187629.1:g.221548_221549insTTTT

Select item 149148961712.

rs1491489617 has merged into rs60614209 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:22476123 (GRCh38)
22:22830460 (GRCh37)
Canonical SPDI:: NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22476111:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.22476123_22476135del, NC_000022.11:g.22476124_22476135del, NC_000022.11:g.22476126_22476135del, NC_000022.11:g.22476127_22476135del, NC_000022.11:g.22476128_22476135del, NC_000022.11:g.22476129_22476135del, NC_000022.11:g.22476130_22476135del, NC_000022.11:g.22476131_22476135del, NC_000022.11:g.22476132_22476135del, NC_000022.11:g.22476133_22476135del, NC_000022.11:g.22476134_22476135del, NC_000022.11:g.22476135del, NC_000022.11:g.22476135dup, NC_000022.11:g.22476134_22476135dup, NC_000022.11:g.22476133_22476135dup, NC_000022.11:g.22476132_22476135dup, NC_000022.11:g.22476131_22476135dup, NC_000022.11:g.22476130_22476135dup, NC_000022.11:g.22476129_22476135dup, NC_000022.11:g.22476128_22476135dup, NC_000022.11:g.22476127_22476135dup, NC_000022.11:g.22476126_22476135dup, NC_000022.11:g.22476125_22476135dup, NC_000022.11:g.22476124_22476135dup, NC_000022.11:g.22476123_22476135dup, NC_000022.11:g.22476122_22476135dup, NC_000022.11:g.22476121_22476135dup, NC_000022.11:g.22476120_22476135dup, NC_000022.11:g.22476119_22476135dup, NC_000022.11:g.22476118_22476135dup, NC_000022.11:g.22476117_22476135dup, NC_000022.11:g.22476116_22476135dup, NC_000022.11:g.22476115_22476135dup, NC_000022.11:g.22476114_22476135dup, NC_000022.11:g.22476113_22476135dup, NC_000022.11:g.22476112_22476135dup, NC_000022.11:g.22476135_22476136insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.22476135_22476136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.22830460_22830472del, NC_000022.10:g.22830461_22830472del, NC_000022.10:g.22830463_22830472del, NC_000022.10:g.22830464_22830472del, NC_000022.10:g.22830465_22830472del, NC_000022.10:g.22830466_22830472del, NC_000022.10:g.22830467_22830472del, NC_000022.10:g.22830468_22830472del, NC_000022.10:g.22830469_22830472del, NC_000022.10:g.22830470_22830472del, NC_000022.10:g.22830471_22830472del, NC_000022.10:g.22830472del, NC_000022.10:g.22830472dup, NC_000022.10:g.22830471_22830472dup, NC_000022.10:g.22830470_22830472dup, NC_000022.10:g.22830469_22830472dup, NC_000022.10:g.22830468_22830472dup, NC_000022.10:g.22830467_22830472dup, NC_000022.10:g.22830466_22830472dup, NC_000022.10:g.22830465_22830472dup, NC_000022.10:g.22830464_22830472dup, NC_000022.10:g.22830463_22830472dup, NC_000022.10:g.22830462_22830472dup, NC_000022.10:g.22830461_22830472dup, NC_000022.10:g.22830460_22830472dup, NC_000022.10:g.22830459_22830472dup, NC_000022.10:g.22830458_22830472dup, NC_000022.10:g.22830457_22830472dup, NC_000022.10:g.22830456_22830472dup, NC_000022.10:g.22830455_22830472dup, NC_000022.10:g.22830454_22830472dup, NC_000022.10:g.22830453_22830472dup, NC_000022.10:g.22830452_22830472dup, NC_000022.10:g.22830451_22830472dup, NC_000022.10:g.22830450_22830472dup, NC_000022.10:g.22830449_22830472dup, NC_000022.10:g.22830472_22830473insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.22830472_22830473insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000002.1:g.454448_454460del, NG_000002.1:g.454449_454460del, NG_000002.1:g.454451_454460del, NG_000002.1:g.454452_454460del, NG_000002.1:g.454453_454460del, NG_000002.1:g.454454_454460del, NG_000002.1:g.454455_454460del, NG_000002.1:g.454456_454460del, NG_000002.1:g.454457_454460del, NG_000002.1:g.454458_454460del, NG_000002.1:g.454459_454460del, NG_000002.1:g.454460del, NG_000002.1:g.454460dup, NG_000002.1:g.454459_454460dup, NG_000002.1:g.454458_454460dup, NG_000002.1:g.454457_454460dup, NG_000002.1:g.454456_454460dup, NG_000002.1:g.454455_454460dup, NG_000002.1:g.454454_454460dup, NG_000002.1:g.454453_454460dup, NG_000002.1:g.454452_454460dup, NG_000002.1:g.454451_454460dup, NG_000002.1:g.454450_454460dup, NG_000002.1:g.454449_454460dup, NG_000002.1:g.454448_454460dup, NG_000002.1:g.454447_454460dup, NG_000002.1:g.454446_454460dup, NG_000002.1:g.454445_454460dup, NG_000002.1:g.454444_454460dup, NG_000002.1:g.454443_454460dup, NG_000002.1:g.454442_454460dup, NG_000002.1:g.454441_454460dup, NG_000002.1:g.454440_454460dup, NG_000002.1:g.454439_454460dup, NG_000002.1:g.454438_454460dup, NG_000002.1:g.454437_454460dup, NG_000002.1:g.454460_454461insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000002.1:g.454460_454461insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187629.1:g.111764_111776del, NT_187629.1:g.111765_111776del, NT_187629.1:g.111767_111776del, NT_187629.1:g.111768_111776del, NT_187629.1:g.111769_111776del, NT_187629.1:g.111770_111776del, NT_187629.1:g.111771_111776del, NT_187629.1:g.111772_111776del, NT_187629.1:g.111773_111776del, NT_187629.1:g.111774_111776del, NT_187629.1:g.111775_111776del, NT_187629.1:g.111776del, NT_187629.1:g.111776dup, NT_187629.1:g.111775_111776dup, NT_187629.1:g.111774_111776dup, NT_187629.1:g.111773_111776dup, NT_187629.1:g.111772_111776dup, NT_187629.1:g.111771_111776dup, NT_187629.1:g.111770_111776dup, NT_187629.1:g.111769_111776dup, NT_187629.1:g.111768_111776dup, NT_187629.1:g.111767_111776dup, NT_187629.1:g.111766_111776dup, NT_187629.1:g.111765_111776dup, NT_187629.1:g.111764_111776dup, NT_187629.1:g.111763_111776dup, NT_187629.1:g.111762_111776dup, NT_187629.1:g.111761_111776dup, NT_187629.1:g.111760_111776dup, NT_187629.1:g.111759_111776dup, NT_187629.1:g.111758_111776dup, NT_187629.1:g.111757_111776dup, NT_187629.1:g.111756_111776dup, NT_187629.1:g.111755_111776dup, NT_187629.1:g.111754_111776dup, NT_187629.1:g.111753_111776dup, NT_187629.1:g.111752_111776dup, NT_187629.1:g.111776_111777insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149146968613.

rs1491469686 has merged into rs113160976 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 22:22559580 (GRCh38)
22:22901987 (GRCh37)
Canonical SPDI:: NC_000022.11:22559572:GGGGGGGGGG:GGGGGGG,NC_000022.11:22559572:GGGGGGGGGG:GGGGGGGG,NC_000022.11:22559572:GGGGGGGGGG:GGGGGGGGG,NC_000022.11:22559572:GGGGGGGGGG:GGGGGGGGGGG,NC_000022.11:22559572:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: PRAME (Varview), LL22NC03-63E9.3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0.0004/2 (ALFA)
-=0.0055/12 (1000Genomes)
HGVS:: NC_000022.11:g.22559580_22559582del, NC_000022.11:g.22559581_22559582del, NC_000022.11:g.22559582del, NC_000022.11:g.22559582dup, NC_000022.11:g.22559581_22559582dup, NC_000022.10:g.22901988dup, NC_000022.10:g.22901987_22901988del, NC_000022.10:g.22901988del, NC_000022.10:g.22901987_22901988dup, NC_000022.10:g.22901986_22901988dup, NG_051352.2:g.515_516insGGGGGG, NG_051352.2:g.513_515dup, NG_051352.2:g.512_515dup, NG_051352.2:g.515_516insGGGGG, NG_051352.2:g.515_516insGGGGGGG, NG_051352.2:g.515_516insGGGGGGGG, NG_000002.1:g.525976dup, NG_000002.1:g.525975_525976del, NG_000002.1:g.525976del, NG_000002.1:g.525975_525976dup, NG_000002.1:g.525974_525976dup, NT_187629.1:g.195237_195239del, NT_187629.1:g.195238_195239del, NT_187629.1:g.195239del, NT_187629.1:g.195239dup, NT_187629.1:g.195238_195239dup

Select item 149146778814.

rs1491467788 has merged into rs75673310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 22:22489688 (GRCh38)
22:22844013 (GRCh37)
Canonical SPDI:: NC_000022.11:22489678:AAAAAAAAAAA:AAAAAAAAA,NC_000022.11:22489678:AAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:22489678:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:22489678:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: ZNF280B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.133333/80 (NorthernSweden)
-=0.142285/142 (GoNL)
-=0.15/6 (GENOME_DK)
-=0.160928/42596 (TOPMED)
-=0.185886/806 (Estonian)
-=0.307249/1492 (1000Genomes)
HGVS:: NC_000022.11:g.22489688_22489689del, NC_000022.11:g.22489689del, NC_000022.11:g.22489689dup, NC_000022.11:g.22489688_22489689dup, NC_000022.10:g.22844013dup, NC_000022.10:g.22844013del, NC_000022.10:g.22844012_22844013dup, NC_000022.10:g.22844011_22844013dup, NG_000002.1:g.468001dup, NG_000002.1:g.468001del, NG_000002.1:g.468000_468001dup, NG_000002.1:g.467999_468001dup, NT_187629.1:g.125345_125346del, NT_187629.1:g.125346del, NT_187629.1:g.125346dup, NT_187629.1:g.125345_125346dup

Select item 149146295615.

rs1491462956 has merged into rs55743754 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTT [Show Flanks]
Chromosome:: 22:22585276 (GRCh38)
22:22927740 (GRCh37)
Canonical SPDI:: NC_000022.11:22585275:TTTTTTTT:TTTTTTT,NC_000022.11:22585275:TTTTTTTT:TTTTTTTTT,NC_000022.11:22585275:TTTTTTTT:TTTTTTTTTT,NC_000022.11:22585275:TTTTTTTT:TTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.0228/195 (ALFA)
-=0.0451/157 (1000Genomes)
-=0.4/16 (GENOME_DK)
-=0.4453/1799 (Estonian)
HGVS:: NC_000022.11:g.22585283del, NC_000022.11:g.22585283dup, NC_000022.11:g.22585282_22585283dup, NC_000022.11:g.22585281_22585283dup, NC_000022.10:g.22927747del, NC_000022.10:g.22927747dup, NC_000022.10:g.22927746_22927747dup, NC_000022.10:g.22927745_22927747dup, NG_000002.1:g.551735del, NG_000002.1:g.551735dup, NG_000002.1:g.551734_551735dup, NG_000002.1:g.551733_551735dup, NT_187629.1:g.220940del, NT_187629.1:g.220940dup, NT_187629.1:g.220939_220940dup, NT_187629.1:g.220938_220940dup

Select item 149144539616.

rs1491445396 has merged into rs10709082 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 22:22552415 (GRCh38)
22:22894837 (GRCh37)
Canonical SPDI:: NC_000022.11:22552405:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:22552405:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:22552405:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:22552405:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:22552405:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:22552405:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:22552405:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: PRAME (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.4119/2063 (1000Genomes)
HGVS:: NC_000022.11:g.22552415_22552421del, NC_000022.11:g.22552417_22552421del, NC_000022.11:g.22552419_22552421del, NC_000022.11:g.22552420_22552421del, NC_000022.11:g.22552421del, NC_000022.11:g.22552421dup, NC_000022.11:g.22552419_22552421dup, NC_000022.10:g.22894842dup, NC_000022.10:g.22894837_22894842del, NC_000022.10:g.22894839_22894842del, NC_000022.10:g.22894841_22894842del, NC_000022.10:g.22894842del, NC_000022.10:g.22894841_22894842dup, NC_000022.10:g.22894839_22894842dup, NG_000002.1:g.518830dup, NG_000002.1:g.518825_518830del, NG_000002.1:g.518827_518830del, NG_000002.1:g.518829_518830del, NG_000002.1:g.518830del, NG_000002.1:g.518829_518830dup, NG_000002.1:g.518827_518830dup, NT_187629.1:g.188072_188078del, NT_187629.1:g.188074_188078del, NT_187629.1:g.188076_188078del, NT_187629.1:g.188077_188078del, NT_187629.1:g.188078del, NT_187629.1:g.188078dup, NT_187629.1:g.188076_188078dup

Select item 149143495217.

rs1491434952 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:22489678 (GRCh38)
22:22844004 (GRCh37)
Canonical SPDI:: NC_000022.11:22489677:TA:
Gene:: ZNF280B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000427/6 (ALFA)
-=0.00086/116 (GnomAD)
-=0.000937/6 (1000Genomes)
-=0.001024/271 (TOPMED)
HGVS:: NC_000022.11:g.22489678_22489679del, NC_000022.10:g.22844013dup, NC_000022.10:g.22844003del, NG_000002.1:g.468001dup, NG_000002.1:g.467991del, NT_187629.1:g.125335_125336del

Select item 149142743218.

rs1491427432 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:22560583 (GRCh38)
22:22902991 (GRCh37)
Canonical SPDI:: NC_000022.11:22560583::A
Gene:: PRAME (Varview), LL22NC03-63E9.3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005196/73 (ALFA)
A=0.000212/6 (TOMMO)
A=0.006839/956 (GnomAD)
A=0.006899/1826 (TOPMED)
A=0.007027/45 (1000Genomes)
HGVS:: NC_000022.11:g.22560583_22560584insA, NC_000022.10:g.22902990_22902991insA, NG_000002.1:g.526978_526979insA, NT_187629.1:g.196240_196241insA

Select item 149141500219.

rs1491415002 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:22422700 (GRCh38)
22:22777037 (GRCh37)
Canonical SPDI:: NC_000022.11:22422699:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.22422700_22422701del, NC_000022.10:g.22777037_22777038del, NG_000002.1:g.401025_401026del, NT_187629.1:g.58338_58339del

Select item 149140013920.

rs1491400139 has merged into rs58035461 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 22:22545253 (GRCh38)
22:22887678 (GRCh37)
Canonical SPDI:: NC_000022.11:22545247:GGGGGGGG:GGGGG,NC_000022.11:22545247:GGGGGGGG:GGGGGG,NC_000022.11:22545247:GGGGGGGG:GGGGGGG,NC_000022.11:22545247:GGGGGGGG:GGGGGGGGG,NC_000022.11:22545247:GGGGGGGG:GGGGGGGGGG
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
G=0.0575/288 (1000Genomes)
HGVS:: NC_000022.11:g.22545253_22545255del, NC_000022.11:g.22545254_22545255del, NC_000022.11:g.22545255del, NC_000022.11:g.22545255dup, NC_000022.11:g.22545254_22545255dup, NC_000022.10:g.22887679dup, NC_000022.10:g.22887678_22887679del, NC_000022.10:g.22887679del, NC_000022.10:g.22887678_22887679dup, NC_000022.10:g.22887677_22887679dup, NG_000002.1:g.511667dup, NG_000002.1:g.511666_511667del, NG_000002.1:g.511667del, NG_000002.1:g.511666_511667dup, NG_000002.1:g.511665_511667dup, NT_187629.1:g.180910_180912del, NT_187629.1:g.180911_180912del, NT_187629.1:g.180912del, NT_187629.1:g.180912dup, NT_187629.1:g.180911_180912dup

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