SNP Links for Gene (Select 80003) - SNP

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Select item 14915888791.

rs1491588879 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:233246673 (GRCh38)
1:233382419 (GRCh37)
Canonical SPDI:: NC_000001.11:233246672:GGGG:GGG,NC_000001.11:233246672:GGGG:GGGGG
Gene:: PCNX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.233246676del, NC_000001.11:g.233246676dup, NC_000001.10:g.233382422del, NC_000001.10:g.233382422dup, NG_050912.1:g.54063del, NG_050912.1:g.54063dup

Select item 14915778392.

rs1491577839 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGT,CTGTGT,CTGTGTGT,CTGTGTGTGT,TTGT [Show Flanks]
Chromosome:: 1:233233424 (GRCh38)
1:233369171 (GRCh37)
Canonical SPDI:: NC_000001.11:233233424:T:TCTGT,NC_000001.11:233233424:T:TCTGTGT,NC_000001.11:233233424:T:TCTGTGTGT,NC_000001.11:233233424:T:TCTGTGTGTGT,NC_000001.11:233233424:T:TTTGT
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGTGT=0./0 (ALFA)
TTTG=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.233233425_233233426insCTGT, NC_000001.11:g.233233425_233233426insCTGTGT, NC_000001.11:g.233233425_233233426insCTGTGTGT, NC_000001.11:g.233233425_233233426insCTGTGTGTGT, NC_000001.11:g.233233425_233233426insTTGT, NC_000001.10:g.233369171_233369172insCTGT, NC_000001.10:g.233369171_233369172insCTGTGT, NC_000001.10:g.233369171_233369172insCTGTGTGT, NC_000001.10:g.233369171_233369172insCTGTGTGTGT, NC_000001.10:g.233369171_233369172insTTGT, NG_050912.1:g.67311_67312insCAGA, NG_050912.1:g.67311AC[2]AGA[1], NG_050912.1:g.67311AC[3]AGA[1], NG_050912.1:g.67311AC[4]AGA[1], NG_050912.1:g.67311_67312insCAAA

Select item 14915648223.

rs1491564822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:233122110 (GRCh38)
1:233257856 (GRCh37)
Canonical SPDI:: NC_000001.11:233122107:AGAG:AG
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.008822/34 (ALSPAC)
-=0.013754/51 (TWINSUK)
HGVS:: NC_000001.11:g.233122108AG[1], NC_000001.10:g.233257854AG[1], NG_050912.1:g.178625CT[1]

Select item 14915571214.

rs1491557121 has merged into rs55865610 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:233130484 (GRCh38)
1:233266230 (GRCh37)
Canonical SPDI:: NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:233130465:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.233130466TG[9], NC_000001.11:g.233130466TG[10], NC_000001.11:g.233130466TG[11], NC_000001.11:g.233130466TG[12], NC_000001.11:g.233130466TG[13], NC_000001.11:g.233130466TG[14], NC_000001.11:g.233130466TG[15], NC_000001.11:g.233130466TG[16], NC_000001.11:g.233130466TG[17], NC_000001.11:g.233130466TG[18], NC_000001.11:g.233130466TG[19], NC_000001.11:g.233130466TG[21], NC_000001.11:g.233130466TG[22], NC_000001.11:g.233130466TG[23], NC_000001.11:g.233130466TG[24], NC_000001.11:g.233130466TG[25], NC_000001.11:g.233130466TG[26], NC_000001.11:g.233130466TG[27], NC_000001.11:g.233130466TG[28], NC_000001.10:g.233266212TG[9], NC_000001.10:g.233266212TG[10], NC_000001.10:g.233266212TG[11], NC_000001.10:g.233266212TG[12], NC_000001.10:g.233266212TG[13], NC_000001.10:g.233266212TG[14], NC_000001.10:g.233266212TG[15], NC_000001.10:g.233266212TG[16], NC_000001.10:g.233266212TG[17], NC_000001.10:g.233266212TG[18], NC_000001.10:g.233266212TG[19], NC_000001.10:g.233266212TG[21], NC_000001.10:g.233266212TG[22], NC_000001.10:g.233266212TG[23], NC_000001.10:g.233266212TG[24], NC_000001.10:g.233266212TG[25], NC_000001.10:g.233266212TG[26], NC_000001.10:g.233266212TG[27], NC_000001.10:g.233266212TG[28], NG_050912.1:g.170231CA[9], NG_050912.1:g.170231CA[10], NG_050912.1:g.170231CA[11], NG_050912.1:g.170231CA[12], NG_050912.1:g.170231CA[13], NG_050912.1:g.170231CA[14], NG_050912.1:g.170231CA[15], NG_050912.1:g.170231CA[16], NG_050912.1:g.170231CA[17], NG_050912.1:g.170231CA[18], NG_050912.1:g.170231CA[19], NG_050912.1:g.170231CA[21], NG_050912.1:g.170231CA[22], NG_050912.1:g.170231CA[23], NG_050912.1:g.170231CA[24], NG_050912.1:g.170231CA[25], NG_050912.1:g.170231CA[26], NG_050912.1:g.170231CA[27], NG_050912.1:g.170231CA[28]

Select item 14915565605.

rs1491556560 has merged into rs10558976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:233288818 (GRCh38)
1:233424564 (GRCh37)
Canonical SPDI:: NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233288804:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PCNX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000001.11:g.233288818_233288826del, NC_000001.11:g.233288819_233288826del, NC_000001.11:g.233288820_233288826del, NC_000001.11:g.233288821_233288826del, NC_000001.11:g.233288822_233288826del, NC_000001.11:g.233288823_233288826del, NC_000001.11:g.233288824_233288826del, NC_000001.11:g.233288825_233288826del, NC_000001.11:g.233288826del, NC_000001.11:g.233288826dup, NC_000001.11:g.233288825_233288826dup, NC_000001.11:g.233288824_233288826dup, NC_000001.11:g.233288823_233288826dup, NC_000001.10:g.233424564_233424572del, NC_000001.10:g.233424565_233424572del, NC_000001.10:g.233424566_233424572del, NC_000001.10:g.233424567_233424572del, NC_000001.10:g.233424568_233424572del, NC_000001.10:g.233424569_233424572del, NC_000001.10:g.233424570_233424572del, NC_000001.10:g.233424571_233424572del, NC_000001.10:g.233424572del, NC_000001.10:g.233424572dup, NC_000001.10:g.233424571_233424572dup, NC_000001.10:g.233424570_233424572dup, NC_000001.10:g.233424569_233424572dup, NG_009603.3:g.779_787del, NG_009603.3:g.780_787del, NG_009603.3:g.781_787del, NG_009603.3:g.782_787del, NG_009603.3:g.783_787del, NG_009603.3:g.784_787del, NG_009603.3:g.785_787del, NG_009603.3:g.786_787del, NG_009603.3:g.787del, NG_009603.3:g.787dup, NG_009603.3:g.786_787dup, NG_009603.3:g.785_787dup, NG_009603.3:g.784_787dup, NG_050912.1:g.11923_11931del, NG_050912.1:g.11924_11931del, NG_050912.1:g.11925_11931del, NG_050912.1:g.11926_11931del, NG_050912.1:g.11927_11931del, NG_050912.1:g.11928_11931del, NG_050912.1:g.11929_11931del, NG_050912.1:g.11930_11931del, NG_050912.1:g.11931del, NG_050912.1:g.11931dup, NG_050912.1:g.11930_11931dup, NG_050912.1:g.11929_11931dup, NG_050912.1:g.11928_11931dup

Select item 14915545606.

rs1491554560 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:233107215 (GRCh38)
1:233242961 (GRCh37)
Canonical SPDI:: NC_000001.11:233107212:AAAA:AA
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000253/3 (ALFA)
-=0.000248/4 (TOMMO)
-=0.000317/44 (GnomAD)
-=0.001718/11 (1000Genomes)
-=0.002729/5 (Korea1K)
HGVS:: NC_000001.11:g.233107215_233107216del, NC_000001.10:g.233242961_233242962del, NG_050912.1:g.193522_193523del

Select item 14915434127.

rs1491543412 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:232984135 (GRCh38)
1:233119881 (GRCh37)
Canonical SPDI:: NC_000001.11:232984134:TC:
Gene:: PCNX2 (Varview), NTPCR (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.232984135_232984136del, NC_000001.10:g.233119881_233119882del, NG_050912.1:g.316600_316601del, NM_014801.4:c.*168_*169del, NM_014801.3:c.*168_*169insA, NM_014801.3:c.*168del, XM_011544278.3:c.*168_*169del, XM_011544278.2:c.*168_*169del, XM_011544278.1:c.*168_*169del, XM_047430870.1:c.*168_*169del, XM_047430871.1:c.*168_*169del, XM_047430873.1:c.*168_*169del

Select item 14915351898.

rs1491535189 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:233279388 (GRCh38)
1:233415135 (GRCh37)
Canonical SPDI:: NC_000001.11:233279388::G
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000023/3 (GnomAD)
HGVS:: NC_000001.11:g.233279388_233279389insG, NC_000001.10:g.233415134_233415135insG, NG_050912.1:g.21347_21348insC

Select item 14915328329.

rs1491532832 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:233017314 (GRCh38)
1:233153060 (GRCh37)
Canonical SPDI:: NC_000001.11:233017313:CT:
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.233017314_233017315del, NC_000001.10:g.233153060_233153061del, NG_050912.1:g.283421_283422del

Select item 149152901710.

rs1491529017 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 1:233279389 (GRCh38)
1:233415135 (GRCh37)
Canonical SPDI:: NC_000001.11:233279387:TTT:T,NC_000001.11:233279387:TTT:TTTTT
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.233279389_233279390del, NC_000001.11:g.233279389_233279390dup, NC_000001.10:g.233415135_233415136del, NC_000001.10:g.233415135_233415136dup, NG_050912.1:g.21347_21348del, NG_050912.1:g.21347_21348dup

Select item 149152182511.

rs1491521825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 1:233118489 (GRCh38)
1:233254236 (GRCh37)
Canonical SPDI:: NC_000001.11:233118489:A:AA,NC_000001.11:233118489:A:AAA
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.00031/8 (GnomAD)
A=0.00091/15 (TOMMO)
HGVS:: NC_000001.11:g.233118490dup, NC_000001.11:g.233118490_233118491insAA, NC_000001.10:g.233254236dup, NC_000001.10:g.233254236_233254237insAA, NG_050912.1:g.182246dup, NG_050912.1:g.182246_182247insTT

Select item 149151485712.

rs1491514857 has merged into rs57419971 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:233017323 (GRCh38)
1:233153069 (GRCh37)
Canonical SPDI:: NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233017314:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
-=0.484/2424 (1000Genomes)
HGVS:: NC_000001.11:g.233017323_233017335del, NC_000001.11:g.233017325_233017335del, NC_000001.11:g.233017329_233017335del, NC_000001.11:g.233017330_233017335del, NC_000001.11:g.233017331_233017335del, NC_000001.11:g.233017332_233017335del, NC_000001.11:g.233017333_233017335del, NC_000001.11:g.233017334_233017335del, NC_000001.11:g.233017335del, NC_000001.11:g.233017335dup, NC_000001.11:g.233017334_233017335dup, NC_000001.11:g.233017333_233017335dup, NC_000001.11:g.233017332_233017335dup, NC_000001.11:g.233017331_233017335dup, NC_000001.11:g.233017330_233017335dup, NC_000001.10:g.233153069_233153081del, NC_000001.10:g.233153071_233153081del, NC_000001.10:g.233153075_233153081del, NC_000001.10:g.233153076_233153081del, NC_000001.10:g.233153077_233153081del, NC_000001.10:g.233153078_233153081del, NC_000001.10:g.233153079_233153081del, NC_000001.10:g.233153080_233153081del, NC_000001.10:g.233153081del, NC_000001.10:g.233153081dup, NC_000001.10:g.233153080_233153081dup, NC_000001.10:g.233153079_233153081dup, NC_000001.10:g.233153078_233153081dup, NC_000001.10:g.233153077_233153081dup, NC_000001.10:g.233153076_233153081dup, NG_050912.1:g.283409_283421del, NG_050912.1:g.283411_283421del, NG_050912.1:g.283415_283421del, NG_050912.1:g.283416_283421del, NG_050912.1:g.283417_283421del, NG_050912.1:g.283418_283421del, NG_050912.1:g.283419_283421del, NG_050912.1:g.283420_283421del, NG_050912.1:g.283421del, NG_050912.1:g.283421dup, NG_050912.1:g.283420_283421dup, NG_050912.1:g.283419_283421dup, NG_050912.1:g.283418_283421dup, NG_050912.1:g.283417_283421dup, NG_050912.1:g.283416_283421dup

Select item 149150772313.

rs1491507723 has merged into rs11324686 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:233085344 (GRCh38)
1:233221090 (GRCh37)
Canonical SPDI:: NC_000001.11:233085331:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:233085331:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:233085331:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:233085331:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:233085331:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:233085331:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:233085331:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCNX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0869/335 (ALSPAC)
-=0.4914/2461 (1000Genomes)
HGVS:: NC_000001.11:g.233085344_233085347del, NC_000001.11:g.233085345_233085347del, NC_000001.11:g.233085346_233085347del, NC_000001.11:g.233085347del, NC_000001.11:g.233085347dup, NC_000001.11:g.233085346_233085347dup, NC_000001.11:g.233085340_233085347dup, NC_000001.10:g.233221090_233221093del, NC_000001.10:g.233221091_233221093del, NC_000001.10:g.233221092_233221093del, NC_000001.10:g.233221093del, NC_000001.10:g.233221093dup, NC_000001.10:g.233221092_233221093dup, NC_000001.10:g.233221086_233221093dup, NG_050912.1:g.215401_215404del, NG_050912.1:g.215402_215404del, NG_050912.1:g.215403_215404del, NG_050912.1:g.215404del, NG_050912.1:g.215404dup, NG_050912.1:g.215403_215404dup, NG_050912.1:g.215397_215404dup

Select item 149150601114.

rs1491506011 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:233288826 (GRCh38)
1:233424573 (GRCh37)
Canonical SPDI:: NC_000001.11:233288826:A:AA
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.233288827dup, NC_000001.10:g.233424573dup, NG_009603.3:g.765dup, NG_050912.1:g.11909dup

Select item 149150584815.

rs1491505848 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:233201025 (GRCh38)
1:233336771 (GRCh37)
Canonical SPDI:: NC_000001.11:233201024:CA:
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.233201025_233201026del, NC_000001.10:g.233336771_233336772del, NG_050912.1:g.99710_99711del

Select item 149149117216.

rs1491491172 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:233288804 (GRCh38)
1:233424550 (GRCh37)
Canonical SPDI:: NC_000001.11:233288803:CT:
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03645/594 (ALFA)
-=0.00921/59 (1000Genomes)
-=0.01552/9 (NorthernSweden)
-=0.04441/4401 (GnomAD)
HGVS:: NC_000001.11:g.233288804_233288805del, NC_000001.10:g.233424550_233424551del, NG_009603.3:g.787_788del, NG_050912.1:g.11931_11932del

Select item 149147941917.

rs1491479419 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:233295982 (GRCh38)
1:233431728 (GRCh37)
Canonical SPDI:: NC_000001.11:233295979:CTCT:CT
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000001.11:g.233295980CT[1], NC_000001.10:g.233431726CT[1], NG_050912.1:g.4753AG[1]

Select item 149147684318.

rs1491476843 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:233246672 (GRCh38)
1:233382418 (GRCh37)
Canonical SPDI:: NC_000001.11:233246671:AG:
Gene:: PCNX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.233246672_233246673del, NC_000001.10:g.233382418_233382419del, NG_050912.1:g.54063_54064del

Select item 149147352619.

rs1491473526 has merged into rs34738587 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:233280313 (GRCh38)
1:233416059 (GRCh37)
Canonical SPDI:: NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:233280298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3498/1348 (ALSPAC)
T=0.4569/2288 (1000Genomes)
HGVS:: NC_000001.11:g.233280313_233280317del, NC_000001.11:g.233280314_233280317del, NC_000001.11:g.233280315_233280317del, NC_000001.11:g.233280316_233280317del, NC_000001.11:g.233280317del, NC_000001.11:g.233280317dup, NC_000001.11:g.233280316_233280317dup, NC_000001.11:g.233280315_233280317dup, NC_000001.11:g.233280314_233280317dup, NC_000001.11:g.233280312_233280317dup, NC_000001.11:g.233280310_233280317dup, NC_000001.10:g.233416059_233416063del, NC_000001.10:g.233416060_233416063del, NC_000001.10:g.233416061_233416063del, NC_000001.10:g.233416062_233416063del, NC_000001.10:g.233416063del, NC_000001.10:g.233416063dup, NC_000001.10:g.233416062_233416063dup, NC_000001.10:g.233416061_233416063dup, NC_000001.10:g.233416060_233416063dup, NC_000001.10:g.233416058_233416063dup, NC_000001.10:g.233416056_233416063dup, NG_050912.1:g.20433_20437del, NG_050912.1:g.20434_20437del, NG_050912.1:g.20435_20437del, NG_050912.1:g.20436_20437del, NG_050912.1:g.20437del, NG_050912.1:g.20437dup, NG_050912.1:g.20436_20437dup, NG_050912.1:g.20435_20437dup, NG_050912.1:g.20434_20437dup, NG_050912.1:g.20432_20437dup, NG_050912.1:g.20430_20437dup

Select item 149147280220.

rs1491472802 has merged into rs35378781 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:233118506 (GRCh38)
1:233254252 (GRCh37)
Canonical SPDI:: NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:233118491:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCNX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1937/970 (1000Genomes)
HGVS:: NC_000001.11:g.233118506_233118511del, NC_000001.11:g.233118508_233118511del, NC_000001.11:g.233118509_233118511del, NC_000001.11:g.233118510_233118511del, NC_000001.11:g.233118511del, NC_000001.11:g.233118511dup, NC_000001.11:g.233118510_233118511dup, NC_000001.11:g.233118509_233118511dup, NC_000001.11:g.233118508_233118511dup, NC_000001.11:g.233118507_233118511dup, NC_000001.11:g.233118506_233118511dup, NC_000001.11:g.233118505_233118511dup, NC_000001.11:g.233118503_233118511dup, NC_000001.11:g.233118492_233118511A[24]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.233254252_233254257del, NC_000001.10:g.233254254_233254257del, NC_000001.10:g.233254255_233254257del, NC_000001.10:g.233254256_233254257del, NC_000001.10:g.233254257del, NC_000001.10:g.233254257dup, NC_000001.10:g.233254256_233254257dup, NC_000001.10:g.233254255_233254257dup, NC_000001.10:g.233254254_233254257dup, NC_000001.10:g.233254253_233254257dup, NC_000001.10:g.233254252_233254257dup, NC_000001.10:g.233254251_233254257dup, NC_000001.10:g.233254249_233254257dup, NC_000001.10:g.233254238_233254257A[24]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_050912.1:g.182239_182244del, NG_050912.1:g.182241_182244del, NG_050912.1:g.182242_182244del, NG_050912.1:g.182243_182244del, NG_050912.1:g.182244del, NG_050912.1:g.182244dup, NG_050912.1:g.182243_182244dup, NG_050912.1:g.182242_182244dup, NG_050912.1:g.182241_182244dup, NG_050912.1:g.182240_182244dup, NG_050912.1:g.182239_182244dup, NG_050912.1:g.182238_182244dup, NG_050912.1:g.182236_182244dup, NG_050912.1:g.182225_182244T[42]GTTTTTTTTTTTTTTTTTTTTTTTT[1]

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