SNP Links for Gene (Select 22850) - SNP

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Select item 14915884301.

rs1491588430 has merged into rs35560770 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:80127352 (GRCh38)
18:77885235 (GRCh37)
Canonical SPDI:: NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80127339:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4028/2017 (1000Genomes)
HGVS:: NC_000018.10:g.80127352_80127360del, NC_000018.10:g.80127353_80127360del, NC_000018.10:g.80127354_80127360del, NC_000018.10:g.80127355_80127360del, NC_000018.10:g.80127356_80127360del, NC_000018.10:g.80127357_80127360del, NC_000018.10:g.80127358_80127360del, NC_000018.10:g.80127359_80127360del, NC_000018.10:g.80127360del, NC_000018.10:g.80127360dup, NC_000018.10:g.80127359_80127360dup, NC_000018.10:g.80127358_80127360dup, NC_000018.10:g.80127357_80127360dup, NC_000018.10:g.80127356_80127360dup, NC_000018.10:g.80127355_80127360dup, NC_000018.10:g.80127340_80127360T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.80127354_80127360dup, NC_000018.10:g.80127353_80127360dup, NC_000018.10:g.80127351_80127360dup, NC_000018.10:g.80127349_80127360dup, NC_000018.10:g.80127348_80127360dup, NC_000018.10:g.80127345_80127360dup, NC_000018.10:g.80127340_80127360T[56]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.80127360_80127361insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80127360_80127361insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80127360_80127361insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77885235_77885243del, NC_000018.9:g.77885236_77885243del, NC_000018.9:g.77885237_77885243del, NC_000018.9:g.77885238_77885243del, NC_000018.9:g.77885239_77885243del, NC_000018.9:g.77885240_77885243del, NC_000018.9:g.77885241_77885243del, NC_000018.9:g.77885242_77885243del, NC_000018.9:g.77885243del, NC_000018.9:g.77885243dup, NC_000018.9:g.77885242_77885243dup, NC_000018.9:g.77885241_77885243dup, NC_000018.9:g.77885240_77885243dup, NC_000018.9:g.77885239_77885243dup, NC_000018.9:g.77885238_77885243dup, NC_000018.9:g.77885223_77885243T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.77885237_77885243dup, NC_000018.9:g.77885236_77885243dup, NC_000018.9:g.77885234_77885243dup, NC_000018.9:g.77885232_77885243dup, NC_000018.9:g.77885231_77885243dup, NC_000018.9:g.77885228_77885243dup, NC_000018.9:g.77885223_77885243T[56]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.77885243_77885244insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77885243_77885244insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77885243_77885244insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914984662.

rs1491498466 has merged into rs770652027 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTCT>-,CTTTCTCTTTCT [Show Flanks]
Chromosome:: 18:80132615 (GRCh38)
18:77890498 (GRCh37)
Canonical SPDI:: NC_000018.10:80132597:TTTCTCTTTCTCTTTCTCTTTCT:TTTCTCTTTCTCTTTCT,NC_000018.10:80132597:TTTCTCTTTCTCTTTCTCTTTCT:TTTCTCTTTCTCTTTCTCTTTCTCTTTCT
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTCTTTCTCTTTCTCTTTCTCTTTCT=0.000108/2 (ALFA)
-=0.000035/1 (TOMMO)
-=0.00045/119 (TOPMED)
-=0.000519/2 (ALSPAC)
-=0.000539/2 (TWINSUK)
-=0.001093/7 (1000Genomes)
HGVS:: NC_000018.10:g.80132603CTTTCT[2], NC_000018.10:g.80132603CTTTCT[4], NC_000018.9:g.77890486CTTTCT[2], NC_000018.9:g.77890486CTTTCT[4]

Select item 14914942343.

rs1491494234 has merged into rs34338300 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:80111576 (GRCh38)
18:77869460 (GRCh37)
Canonical SPDI:: NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80111566:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ADNP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.80111576_80111584del, NC_000018.10:g.80111577_80111584del, NC_000018.10:g.80111581_80111584del, NC_000018.10:g.80111582_80111584del, NC_000018.10:g.80111583_80111584del, NC_000018.10:g.80111584del, NC_000018.10:g.80111584dup, NC_000018.10:g.80111583_80111584dup, NC_000018.10:g.80111582_80111584dup, NC_000018.10:g.80111577_80111584dup, NC_000018.9:g.77869467dup, NC_000018.9:g.77869460_77869467del, NC_000018.9:g.77869461_77869467del, NC_000018.9:g.77869465_77869467del, NC_000018.9:g.77869466_77869467del, NC_000018.9:g.77869467del, NC_000018.9:g.77869466_77869467dup, NC_000018.9:g.77869465_77869467dup, NC_000018.9:g.77869464_77869467dup, NC_000018.9:g.77869459_77869467dup

Select item 14914169144.

rs1491416914 has merged into rs5826687 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:80119425 (GRCh38)
18:77877308 (GRCh37)
Canonical SPDI:: NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:80119413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.80119425_80119433del, NC_000018.10:g.80119426_80119433del, NC_000018.10:g.80119427_80119433del, NC_000018.10:g.80119428_80119433del, NC_000018.10:g.80119429_80119433del, NC_000018.10:g.80119430_80119433del, NC_000018.10:g.80119431_80119433del, NC_000018.10:g.80119432_80119433del, NC_000018.10:g.80119433del, NC_000018.10:g.80119433dup, NC_000018.10:g.80119432_80119433dup, NC_000018.10:g.80119431_80119433dup, NC_000018.9:g.77877308_77877316del, NC_000018.9:g.77877309_77877316del, NC_000018.9:g.77877310_77877316del, NC_000018.9:g.77877311_77877316del, NC_000018.9:g.77877312_77877316del, NC_000018.9:g.77877313_77877316del, NC_000018.9:g.77877314_77877316del, NC_000018.9:g.77877315_77877316del, NC_000018.9:g.77877316del, NC_000018.9:g.77877316dup, NC_000018.9:g.77877315_77877316dup, NC_000018.9:g.77877314_77877316dup

Select item 14913626815.

rs1491362681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 18:80127340 (GRCh38)
18:77885224 (GRCh37)
Canonical SPDI:: NC_000018.10:80127340:TT:TTGTT
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGTT=0./0 (ALFA)
TTG=0.00106/4 (GnomAD)
HGVS:: NC_000018.10:g.80127342_80127343insGTT, NC_000018.9:g.77885225_77885226insGTT

Select item 14913347566.

rs1491334756 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:80119413 (GRCh38)
18:77877296 (GRCh37)
Canonical SPDI:: NC_000018.10:80119412:CA:
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.80119413_80119414del, NC_000018.9:g.77877296_77877297del

Select item 14913143157.

rs1491314315 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGTGTG [Show Flanks]
Chromosome:: 18:80134384 (GRCh38)
18:77892268 (GRCh37)
Canonical SPDI:: NC_000018.10:80134384:G:GTG,NC_000018.10:80134384:G:GTGTGTG
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
HGVS:: NC_000018.10:g.80134385_80134386insTG, NC_000018.10:g.80134386TG[3], NC_000018.9:g.77892268_77892269insTG, NC_000018.9:g.77892269TG[3]

Select item 14912892418.

rs1491289241 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:80111566 (GRCh38)
18:77869451 (GRCh37)
Canonical SPDI:: NC_000018.10:80111565:AT:
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.80111566_80111567del, NC_000018.9:g.77869467dup, NC_000018.9:g.77869450del

Select item 14912816259.

rs1491281625 has merged into rs11411000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:80138825 (GRCh38)
18:77896708 (GRCh37)
Canonical SPDI:: NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:80138816:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ADNP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.231707/133 (NorthernSweden)
-=0.275/11 (GENOME_DK)
-=0.413738/2072 (1000Genomes)
HGVS:: NC_000018.10:g.80138825_80138830del, NC_000018.10:g.80138827_80138830del, NC_000018.10:g.80138828_80138830del, NC_000018.10:g.80138829_80138830del, NC_000018.10:g.80138830del, NC_000018.10:g.80138830dup, NC_000018.10:g.80138829_80138830dup, NC_000018.10:g.80138828_80138830dup, NC_000018.10:g.80138825_80138830dup, NC_000018.10:g.80138823_80138830dup, NC_000018.9:g.77896708_77896713del, NC_000018.9:g.77896710_77896713del, NC_000018.9:g.77896711_77896713del, NC_000018.9:g.77896712_77896713del, NC_000018.9:g.77896713del, NC_000018.9:g.77896713dup, NC_000018.9:g.77896712_77896713dup, NC_000018.9:g.77896711_77896713dup, NC_000018.9:g.77896708_77896713dup, NC_000018.9:g.77896706_77896713dup, NM_014913.4:c.*16_*21del, NM_014913.4:c.*18_*21del, NM_014913.4:c.*19_*21del, NM_014913.4:c.*20_*21del, NM_014913.4:c.*21del, NM_014913.4:c.*21dup, NM_014913.4:c.*20_*21dup, NM_014913.4:c.*19_*21dup, NM_014913.4:c.*16_*21dup, NM_014913.4:c.*14_*21dup, NM_014913.3:c.*16_*21del, NM_014913.3:c.*18_*21del, NM_014913.3:c.*19_*21del, NM_014913.3:c.*20_*21del, NM_014913.3:c.*21del, NM_014913.3:c.*21dup, NM_014913.3:c.*20_*21dup, NM_014913.3:c.*19_*21dup, NM_014913.3:c.*16_*21dup, NM_014913.3:c.*14_*21dup, XM_011525883.3:c.*16_*21del, XM_011525883.3:c.*18_*21del, XM_011525883.3:c.*19_*21del, XM_011525883.3:c.*20_*21del, XM_011525883.3:c.*21del, XM_011525883.3:c.*21dup, XM_011525883.3:c.*20_*21dup, XM_011525883.3:c.*19_*21dup, XM_011525883.3:c.*16_*21dup, XM_011525883.3:c.*14_*21dup, XM_011525883.2:c.*16_*21del, XM_011525883.2:c.*18_*21del, XM_011525883.2:c.*19_*21del, XM_011525883.2:c.*20_*21del, XM_011525883.2:c.*21del, XM_011525883.2:c.*21dup, XM_011525883.2:c.*20_*21dup, XM_011525883.2:c.*19_*21dup, XM_011525883.2:c.*16_*21dup, XM_011525883.2:c.*14_*21dup, XM_011525883.1:c.*16_*21del, XM_011525883.1:c.*18_*21del, XM_011525883.1:c.*19_*21del, XM_011525883.1:c.*20_*21del, XM_011525883.1:c.*21del, XM_011525883.1:c.*21dup, XM_011525883.1:c.*20_*21dup, XM_011525883.1:c.*19_*21dup, XM_011525883.1:c.*16_*21dup, XM_011525883.1:c.*14_*21dup, XM_047437351.1:c.*16_*21del, XM_047437351.1:c.*18_*21del, XM_047437351.1:c.*19_*21del, XM_047437351.1:c.*20_*21del, XM_047437351.1:c.*21del, XM_047437351.1:c.*21dup, XM_047437351.1:c.*20_*21dup, XM_047437351.1:c.*19_*21dup, XM_047437351.1:c.*16_*21dup, XM_047437351.1:c.*14_*21dup, XM_047437350.1:c.*16_*21del, XM_047437350.1:c.*18_*21del, XM_047437350.1:c.*19_*21del, XM_047437350.1:c.*20_*21del, XM_047437350.1:c.*21del, XM_047437350.1:c.*21dup, XM_047437350.1:c.*20_*21dup, XM_047437350.1:c.*19_*21dup, XM_047437350.1:c.*16_*21dup, XM_047437350.1:c.*14_*21dup, XM_047437352.1:c.*16_*21del, XM_047437352.1:c.*18_*21del, XM_047437352.1:c.*19_*21del, XM_047437352.1:c.*20_*21del, XM_047437352.1:c.*21del, XM_047437352.1:c.*21dup, XM_047437352.1:c.*20_*21dup, XM_047437352.1:c.*19_*21dup, XM_047437352.1:c.*16_*21dup, XM_047437352.1:c.*14_*21dup

Select item 149109662410.

rs1491096624 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 18:80134386 (GRCh38)
18:77892269 (GRCh37)
Canonical SPDI:: NC_000018.10:80134383:AGAG:AG,NC_000018.10:80134383:AGAG:AGAGAG
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
-=0.00032/5 (TOMMO)
-=0.00164/3 (Korea1K)
HGVS:: NC_000018.10:g.80134384AG[1], NC_000018.10:g.80134384AG[3], NC_000018.9:g.77892267AG[1], NC_000018.9:g.77892267AG[3]

Select item 149109259311.

rs1491092593 has merged into rs1555730307 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAG>-,AG,AGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG [Show Flanks]
Chromosome:: 18:80134422 (GRCh38)
18:77892305 (GRCh37)
Canonical SPDI:: NC_000018.10:80134418:GAGAGAGAG:GAG,NC_000018.10:80134418:GAGAGAGAG:GAGAG,NC_000018.10:80134418:GAGAGAGAG:GAGAGAG,NC_000018.10:80134418:GAGAGAGAG:GAGAGAGAGAG,NC_000018.10:80134418:GAGAGAGAG:GAGAGAGAGAGAG,NC_000018.10:80134418:GAGAGAGAG:GAGAGAGAGAGAGAG
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
GA=0.005/3 (NorthernSweden)
HGVS:: NC_000018.10:g.80134420AG[1], NC_000018.10:g.80134420AG[2], NC_000018.10:g.80134420AG[3], NC_000018.10:g.80134420AG[5], NC_000018.10:g.80134420AG[6], NC_000018.10:g.80134420AG[7], NC_000018.9:g.77892303AG[1], NC_000018.9:g.77892303AG[2], NC_000018.9:g.77892303AG[3], NC_000018.9:g.77892303AG[5], NC_000018.9:g.77892303AG[6], NC_000018.9:g.77892303AG[7]

Select item 149108211512.

rs1491082115 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 18:80129105 (GRCh38)
18:77886988 (GRCh37)
Canonical SPDI:: NC_000018.10:80129103:TGT:T
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00051/6 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00245/204 (GnomAD)
-=0.00437/8 (Korea1K)
HGVS:: NC_000018.10:g.80129105_80129106del, NC_000018.9:g.77886988_77886989del

Select item 149103212713.

rs1491032127 has merged into rs34075834 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 18:80131583 (GRCh38)
18:77889466 (GRCh37)
Canonical SPDI:: NC_000018.10:80131569:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:80131569:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:80131569:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:80131569:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:80131569:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:80131569:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3904/1955 (1000Genomes)
HGVS:: NC_000018.10:g.80131583_80131586del, NC_000018.10:g.80131584_80131586del, NC_000018.10:g.80131585_80131586del, NC_000018.10:g.80131586del, NC_000018.10:g.80131586dup, NC_000018.10:g.80131585_80131586dup, NC_000018.9:g.77889466_77889469del, NC_000018.9:g.77889467_77889469del, NC_000018.9:g.77889468_77889469del, NC_000018.9:g.77889469del, NC_000018.9:g.77889469dup, NC_000018.9:g.77889468_77889469dup

Select item 149102835014.

rs1491028350 has merged into rs138431229 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:80114196 (GRCh38)
18:77872079 (GRCh37)
Canonical SPDI:: NC_000018.10:80114192:AAAAAAAAAAAAA:AAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:80114192:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.80114196_80114205del, NC_000018.10:g.80114198_80114205del, NC_000018.10:g.80114200_80114205del, NC_000018.10:g.80114202_80114205del, NC_000018.10:g.80114203_80114205del, NC_000018.10:g.80114204_80114205del, NC_000018.10:g.80114205del, NC_000018.10:g.80114205dup, NC_000018.10:g.80114204_80114205dup, NC_000018.10:g.80114203_80114205dup, NC_000018.10:g.80114202_80114205dup, NC_000018.10:g.80114201_80114205dup, NC_000018.10:g.80114196_80114205dup, NC_000018.10:g.80114194_80114205dup, NC_000018.9:g.77872079_77872088del, NC_000018.9:g.77872081_77872088del, NC_000018.9:g.77872083_77872088del, NC_000018.9:g.77872085_77872088del, NC_000018.9:g.77872086_77872088del, NC_000018.9:g.77872087_77872088del, NC_000018.9:g.77872088del, NC_000018.9:g.77872088dup, NC_000018.9:g.77872087_77872088dup, NC_000018.9:g.77872086_77872088dup, NC_000018.9:g.77872085_77872088dup, NC_000018.9:g.77872084_77872088dup, NC_000018.9:g.77872079_77872088dup, NC_000018.9:g.77872077_77872088dup

Select item 149097605915.

rs1490976059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:80120700 (GRCh38)
18:77878583 (GRCh37)
Canonical SPDI:: NC_000018.10:80120699:C:G,NC_000018.10:80120699:C:T
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.80120700C>G, NC_000018.10:g.80120700C>T, NC_000018.9:g.77878583C>G, NC_000018.9:g.77878583C>T

Select item 149095624916.

rs1490956249 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 18:80107395 (GRCh38)
18:77865279 (GRCh37)
Canonical SPDI:: NC_000018.10:80107394:AAA:AA
Gene:: ADNP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000018.10:g.80107397del, NC_000018.9:g.77865281del

Select item 149093755617.

rs1490937556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:80131626 (GRCh38)
18:77889509 (GRCh37)
Canonical SPDI:: NC_000018.10:80131625:C:T
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.80131626C>T, NC_000018.9:g.77889509C>T

Select item 149090652618.

rs1490906526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:80134770 (GRCh38)
18:77892653 (GRCh37)
Canonical SPDI:: NC_000018.10:80134769:G:A
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000018.10:g.80134770G>A, NC_000018.9:g.77892653G>A

Select item 149078751919.

rs1490787519 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 18:80114206 (GRCh38)
18:77872089 (GRCh37)
Canonical SPDI:: NC_000018.10:80114205:G:
Gene:: ADNP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000054/1 (ALFA)
-=0.000043/6 (GnomAD)
HGVS:: NC_000018.10:g.80114206del, NC_000018.9:g.77872089del

Select item 149054313320.

rs1490543133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:80135655 (GRCh38)
18:77893538 (GRCh37)
Canonical SPDI:: NC_000018.10:80135654:C:G
Gene:: ADNP2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.80135655C>G, NC_000018.9:g.77893538C>G, NM_014913.4:c.242C>G, NM_014913.3:c.242C>G, XM_011525883.3:c.176C>G, XM_011525883.2:c.176C>G, XM_011525883.1:c.176C>G, XM_047437351.1:c.-134C>G, XM_047437350.1:c.176C>G, XM_047437352.1:c.-134C>G, NP_055728.1:p.Ser81Cys, XP_011524185.1:p.Ser59Cys, XP_047293306.1:p.Ser59Cys

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