SNP Links for Nucleotide (Select 283837756) - SNP

Links from Nucleotide

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Select item 14915736951.

rs1491573695 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:21567796 (GRCh38)
X:21585915 (GRCh37)
Canonical SPDI:: NC_000023.11:21567796:T:TT
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.1034/222 (GnomAD)
HGVS:: NC_000023.11:g.21567797dup, NC_000023.10:g.21585915dup, NG_016266.1:g.198380dup

Select item 14915512892.

rs1491551289 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATGTGTATATATATATACACCTATATAT [Show Flanks]
Chromosome:: X:21635420 (GRCh38)
X:21653539 (GRCh37)
Canonical SPDI:: NC_000023.11:21635420:TATATATGTATATGTGTATATATATATACACCTATATAT:TATATATGTATATGTGTATATATATATACACCTATATATGTATATGTGTATATATATATACACCTATATAT
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATGTATATGTGTATATATATATACACCTATATATGTATATGTGTATATATATATACACCTATATAT=0.00045/2 (ALFA)
TATATATGTATATGTGTATATATATATACACC=0.00005/1 (TOMMO)
TATATATGTATATGTGTATATATATATACACC=0.00018/17 (GnomAD)
HGVS:: NC_000023.11:g.21635428_21635459dup, NC_000023.10:g.21653546_21653577dup, NG_016266.1:g.266011_266042dup

Select item 14914991643.

rs1491499164 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:21483593 (GRCh38)
X:21501711 (GRCh37)
Canonical SPDI:: NC_000023.11:21483590:AAAA:AA
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00018/2 (TOMMO)
HGVS:: NC_000023.11:g.21483593_21483594del, NC_000023.10:g.21501711_21501712del, NG_016266.1:g.114176_114177del

Select item 14914824024.

rs1491482402 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: X:21626244 (GRCh38)
X:21644363 (GRCh37)
Canonical SPDI:: NC_000023.11:21626244::TA
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
TA=0.00008/3 (GnomAD)
HGVS:: NC_000023.11:g.21626244_21626245insTA, NC_000023.10:g.21644362_21644363insTA, NG_016266.1:g.256827_256828insTA

Select item 14914729025.

rs1491472902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAG,TGTGAG [Show Flanks]
Chromosome:: X:21599383 (GRCh38)
X:21617502 (GRCh37)
Canonical SPDI:: NC_000023.11:21599383:G:GTGAG,NC_000023.11:21599383:G:GTGTGAG
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGAG=0./0 (ALFA)
GTGTGA=0.00001/1 (GnomAD)
GTGA=0.00005/1 (TOMMO)
HGVS:: NC_000023.11:g.21599384_21599385insTGAG, NC_000023.11:g.21599384GT[2]GAG[1], NC_000023.10:g.21617502_21617503insTGAG, NC_000023.10:g.21617502GT[2]GAG[1], NG_016266.1:g.229967_229968insTGAG, NG_016266.1:g.229967GT[2]GAG[1]

Select item 14914534936.

rs1491453493 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TATA [Show Flanks]
Chromosome:: X:21483591 (GRCh38)
X:21501710 (GRCh37)
Canonical SPDI:: NC_000023.11:21483591:A:ATA,NC_000023.11:21483591:A:ATATA
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.21483592_21483593insTA, NC_000023.11:g.21483592_21483593insTATA, NC_000023.10:g.21501710_21501711insTA, NC_000023.10:g.21501710_21501711insTATA, NG_016266.1:g.114175_114176insTA, NG_016266.1:g.114175_114176insTATA

Select item 14914490367.

rs1491449036 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: X:21433654 (GRCh38)
X:21451773 (GRCh37)
Canonical SPDI:: NC_000023.11:21433654:C:CC
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.0005/2 (1000Genomes)
HGVS:: NC_000023.11:g.21433655dup, NC_000023.10:g.21451773dup, NG_016266.1:g.64238dup

Select item 14913894928.

rs1491389492 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:21626244 (GRCh38)
X:21644362 (GRCh37)
Canonical SPDI:: NC_000023.11:21626243:TA:
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.21626244_21626245del, NC_000023.10:g.21644362_21644363del, NG_016266.1:g.256827_256828del

Select item 14913772519.

rs1491377251 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:21449303 (GRCh38)
X:21467421 (GRCh37)
Canonical SPDI:: NC_000023.11:21449302:CA:
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000023.11:g.21449303_21449304del, NC_000023.10:g.21467421_21467422del, NG_016266.1:g.79886_79887del

Select item 149136480910.

rs1491364809 has merged into rs33962399 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:21648804 (GRCh38)
X:21666922 (GRCh37)
Canonical SPDI:: NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:21648794:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00104/3 (ALSPAC)
-=0.00189/7 (TWINSUK)
HGVS:: NC_000023.11:g.21648804_21648819del, NC_000023.11:g.21648805_21648819del, NC_000023.11:g.21648806_21648819del, NC_000023.11:g.21648808_21648819del, NC_000023.11:g.21648809_21648819del, NC_000023.11:g.21648810_21648819del, NC_000023.11:g.21648811_21648819del, NC_000023.11:g.21648812_21648819del, NC_000023.11:g.21648813_21648819del, NC_000023.11:g.21648814_21648819del, NC_000023.11:g.21648815_21648819del, NC_000023.11:g.21648816_21648819del, NC_000023.11:g.21648817_21648819del, NC_000023.11:g.21648818_21648819del, NC_000023.11:g.21648819del, NC_000023.11:g.21648819dup, NC_000023.11:g.21648818_21648819dup, NC_000023.11:g.21648817_21648819dup, NC_000023.11:g.21648816_21648819dup, NC_000023.11:g.21648815_21648819dup, NC_000023.11:g.21648814_21648819dup, NC_000023.11:g.21648813_21648819dup, NC_000023.11:g.21648812_21648819dup, NC_000023.11:g.21648811_21648819dup, NC_000023.11:g.21648810_21648819dup, NC_000023.11:g.21648809_21648819dup, NC_000023.11:g.21648808_21648819dup, NC_000023.11:g.21648807_21648819dup, NC_000023.11:g.21648806_21648819dup, NC_000023.11:g.21648805_21648819dup, NC_000023.11:g.21648804_21648819dup, NC_000023.11:g.21648803_21648819dup, NC_000023.11:g.21648802_21648819dup, NC_000023.11:g.21648801_21648819dup, NC_000023.11:g.21648798_21648819dup, NC_000023.11:g.21648797_21648819dup, NC_000023.11:g.21648819_21648820insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.21648819_21648820insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.21666922_21666937del, NC_000023.10:g.21666923_21666937del, NC_000023.10:g.21666924_21666937del, NC_000023.10:g.21666926_21666937del, NC_000023.10:g.21666927_21666937del, NC_000023.10:g.21666928_21666937del, NC_000023.10:g.21666929_21666937del, NC_000023.10:g.21666930_21666937del, NC_000023.10:g.21666931_21666937del, NC_000023.10:g.21666932_21666937del, NC_000023.10:g.21666933_21666937del, NC_000023.10:g.21666934_21666937del, NC_000023.10:g.21666935_21666937del, NC_000023.10:g.21666936_21666937del, NC_000023.10:g.21666937del, NC_000023.10:g.21666937dup, NC_000023.10:g.21666936_21666937dup, NC_000023.10:g.21666935_21666937dup, NC_000023.10:g.21666934_21666937dup, NC_000023.10:g.21666933_21666937dup, NC_000023.10:g.21666932_21666937dup, NC_000023.10:g.21666931_21666937dup, NC_000023.10:g.21666930_21666937dup, NC_000023.10:g.21666929_21666937dup, NC_000023.10:g.21666928_21666937dup, NC_000023.10:g.21666927_21666937dup, NC_000023.10:g.21666926_21666937dup, NC_000023.10:g.21666925_21666937dup, NC_000023.10:g.21666924_21666937dup, NC_000023.10:g.21666923_21666937dup, NC_000023.10:g.21666922_21666937dup, NC_000023.10:g.21666921_21666937dup, NC_000023.10:g.21666920_21666937dup, NC_000023.10:g.21666919_21666937dup, NC_000023.10:g.21666916_21666937dup, NC_000023.10:g.21666915_21666937dup, NC_000023.10:g.21666937_21666938insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.21666937_21666938insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016266.1:g.279387_279402del, NG_016266.1:g.279388_279402del, NG_016266.1:g.279389_279402del, NG_016266.1:g.279391_279402del, NG_016266.1:g.279392_279402del, NG_016266.1:g.279393_279402del, NG_016266.1:g.279394_279402del, NG_016266.1:g.279395_279402del, NG_016266.1:g.279396_279402del, NG_016266.1:g.279397_279402del, NG_016266.1:g.279398_279402del, NG_016266.1:g.279399_279402del, NG_016266.1:g.279400_279402del, NG_016266.1:g.279401_279402del, NG_016266.1:g.279402del, NG_016266.1:g.279402dup, NG_016266.1:g.279401_279402dup, NG_016266.1:g.279400_279402dup, NG_016266.1:g.279399_279402dup, NG_016266.1:g.279398_279402dup, NG_016266.1:g.279397_279402dup, NG_016266.1:g.279396_279402dup, NG_016266.1:g.279395_279402dup, NG_016266.1:g.279394_279402dup, NG_016266.1:g.279393_279402dup, NG_016266.1:g.279392_279402dup, NG_016266.1:g.279391_279402dup, NG_016266.1:g.279390_279402dup, NG_016266.1:g.279389_279402dup, NG_016266.1:g.279388_279402dup, NG_016266.1:g.279387_279402dup, NG_016266.1:g.279386_279402dup, NG_016266.1:g.279385_279402dup, NG_016266.1:g.279384_279402dup, NG_016266.1:g.279381_279402dup, NG_016266.1:g.279380_279402dup, NG_016266.1:g.279402_279403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016266.1:g.279402_279403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149136256711.

rs1491362567 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:21483618 (GRCh38)
X:21501736 (GRCh37)
Canonical SPDI:: NC_000023.11:21483615:AAAA:AA
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000142/2 (ALFA)
-=0.000021/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.21483618_21483619del, NC_000023.10:g.21501736_21501737del, NG_016266.1:g.114201_114202del

Select item 149135321512.

rs1491353215 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:21473764 (GRCh38)
X:21491882 (GRCh37)
Canonical SPDI:: NC_000023.11:21473763:TG:
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000023.11:g.21473764_21473765del, NC_000023.10:g.21491882_21491883del, NG_016266.1:g.104347_104348del

Select item 149135056213.

rs1491350562 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:21648795 (GRCh38)
X:21666914 (GRCh37)
Canonical SPDI:: NC_000023.11:21648795:TTTTTTTTTTTT:TTTTTTTTTTTTGTTTTTTTTTTTT
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: TTTTTTTTTTTTG=0.034/72 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21648796_21648807T[12]GTTTTTTTTTTTT[1], NC_000023.10:g.21666914_21666925T[12]GTTTTTTTTTTTT[1], NG_016266.1:g.279379_279390T[12]GTTTTTTTTTTTT[1]

Select item 149134982014.

rs1491349820 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGC [Show Flanks]
Chromosome:: X:21374609 (GRCh38)
X:21392728 (GRCh37)
Canonical SPDI:: NC_000023.11:21374609:GC:GCCGC
Gene:: CNKSR2 (Varview), LOC105373146 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GCCGC=0./0 (ALFA)
GCC=0.00003/3 (GnomAD)
HGVS:: NC_000023.11:g.21374611_21374612insCGC, NC_000023.10:g.21392729_21392730insCGC, NG_016266.1:g.5194_5195insCGC, NM_014927.5:c.-287_-286insCGC, NM_014927.4:c.-287_-286insCGC, NM_014927.3:c.-287_-286insCGC, NM_001168648.3:c.-287_-286insCGC, NM_001168648.2:c.-287_-286insCGC, NM_001168648.1:c.-287_-286insCGC, NM_001168649.3:c.-287_-286insCGC, NM_001168649.2:c.-287_-286insCGC, NM_001168649.1:c.-287_-286insCGC, NM_001168647.3:c.-287_-286insCGC, NM_001168647.2:c.-287_-286insCGC, NM_001168647.1:c.-287_-286insCGC, NM_001330773.2:c.-287_-286insCGC, NM_001330773.1:c.-287_-286insCGC, NM_001330771.2:c.-287_-286insCGC, NM_001330771.1:c.-287_-286insCGC, NM_001330770.2:c.-287_-286insCGC, NM_001330770.1:c.-287_-286insCGC, NM_001330772.2:c.-287_-286insCGC, NM_001330772.1:c.-287_-286insCGC, XM_011545471.4:c.-287_-286insCGC, XM_011545471.3:c.-287_-286insCGC, XM_011545471.2:c.-287_-286insCGC, XM_011545471.1:c.-287_-286insCGC, XM_011545472.4:c.-287_-286insCGC, XM_011545472.3:c.-287_-286insCGC, XM_011545472.2:c.-287_-286insCGC, XM_011545472.1:c.-287_-286insCGC, XM_017029358.3:c.-287_-286insCGC, XM_017029358.2:c.-287_-286insCGC, XM_017029358.1:c.-287_-286insCGC

Select item 149131142715.

rs1491311427 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:21473764 (GRCh38)
X:21491883 (GRCh37)
Canonical SPDI:: NC_000023.11:21473764:G:GG
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000023.11:g.21473765dup, NC_000023.10:g.21491883dup, NG_016266.1:g.104348dup

Select item 149124450716.

rs1491244507 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:21374609 (GRCh38)
X:21392727 (GRCh37)
Canonical SPDI:: NC_000023.11:21374608:AG:
Gene:: CNKSR2 (Varview), LOC105373146 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.21374609_21374610del, NC_000023.10:g.21392727_21392728del, NG_016266.1:g.5192_5193del, NM_014927.5:c.-289_-288del, NM_014927.4:c.-289_-288del, NM_014927.3:c.-289_-288del, NM_001168648.3:c.-289_-288del, NM_001168648.2:c.-289_-288del, NM_001168648.1:c.-289_-288del, NM_001168649.3:c.-289_-288del, NM_001168649.2:c.-289_-288del, NM_001168649.1:c.-289_-288del, NM_001168647.3:c.-289_-288del, NM_001168647.2:c.-289_-288del, NM_001168647.1:c.-289_-288del, NM_001330773.2:c.-289_-288del, NM_001330773.1:c.-289_-288del, NM_001330771.2:c.-289_-288del, NM_001330771.1:c.-289_-288del, NM_001330770.2:c.-289_-288del, NM_001330770.1:c.-289_-288del, NM_001330772.2:c.-289_-288del, NM_001330772.1:c.-289_-288del, XM_011545471.4:c.-289_-288del, XM_011545471.3:c.-289_-288del, XM_011545471.2:c.-289_-288del, XM_011545471.1:c.-289_-288del, XM_011545472.4:c.-289_-288del, XM_011545472.3:c.-289_-288del, XM_011545472.2:c.-289_-288del, XM_011545472.1:c.-289_-288del, XM_017029358.3:c.-289_-288del, XM_017029358.2:c.-289_-288del, XM_017029358.1:c.-289_-288del

Select item 149123881317.

rs1491238813 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCAGC [Show Flanks]
Chromosome:: X:21374603 (GRCh38)
X:21392722 (GRCh37)
Canonical SPDI:: NC_000023.11:21374603:GCAGC:GCAGCGGCAGC
Gene:: CNKSR2 (Varview), LOC105373146 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GCAGCGGCAGC=0./0 (ALFA)
HGVS:: NC_000023.11:g.21374608_21374609insGGCAGC, NC_000023.10:g.21392726_21392727insGGCAGC, NG_016266.1:g.5191_5192insGGCAGC, NM_014927.5:c.-290_-289insGGCAGC, NM_014927.4:c.-290_-289insGGCAGC, NM_014927.3:c.-290_-289insGGCAGC, NM_001168648.3:c.-290_-289insGGCAGC, NM_001168648.2:c.-290_-289insGGCAGC, NM_001168648.1:c.-290_-289insGGCAGC, NM_001168649.3:c.-290_-289insGGCAGC, NM_001168649.2:c.-290_-289insGGCAGC, NM_001168649.1:c.-290_-289insGGCAGC, NM_001168647.3:c.-290_-289insGGCAGC, NM_001168647.2:c.-290_-289insGGCAGC, NM_001168647.1:c.-290_-289insGGCAGC, NM_001330773.2:c.-290_-289insGGCAGC, NM_001330773.1:c.-290_-289insGGCAGC, NM_001330771.2:c.-290_-289insGGCAGC, NM_001330771.1:c.-290_-289insGGCAGC, NM_001330770.2:c.-290_-289insGGCAGC, NM_001330770.1:c.-290_-289insGGCAGC, NM_001330772.2:c.-290_-289insGGCAGC, NM_001330772.1:c.-290_-289insGGCAGC, XM_011545471.4:c.-290_-289insGGCAGC, XM_011545471.3:c.-290_-289insGGCAGC, XM_011545471.2:c.-290_-289insGGCAGC, XM_011545471.1:c.-290_-289insGGCAGC, XM_011545472.4:c.-290_-289insGGCAGC, XM_011545472.3:c.-290_-289insGGCAGC, XM_011545472.2:c.-290_-289insGGCAGC, XM_011545472.1:c.-290_-289insGGCAGC, XM_017029358.3:c.-290_-289insGGCAGC, XM_017029358.2:c.-290_-289insGGCAGC, XM_017029358.1:c.-290_-289insGGCAGC

Select item 149123229118.

rs1491232291 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:21374603 (GRCh38)
X:21392721 (GRCh37)
Canonical SPDI:: NC_000023.11:21374602:AG:
Gene:: CNKSR2 (Varview), LOC105373146 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.21374603_21374604del, NC_000023.10:g.21392721_21392722del, NG_016266.1:g.5186_5187del, NM_014927.5:c.-295_-294del, NM_014927.4:c.-295_-294del, NM_014927.3:c.-295_-294del, NM_001168648.3:c.-295_-294del, NM_001168648.2:c.-295_-294del, NM_001168648.1:c.-295_-294del, NM_001168649.3:c.-295_-294del, NM_001168649.2:c.-295_-294del, NM_001168649.1:c.-295_-294del, NM_001168647.3:c.-295_-294del, NM_001168647.2:c.-295_-294del, NM_001168647.1:c.-295_-294del, NM_001330773.2:c.-295_-294del, NM_001330773.1:c.-295_-294del, NM_001330771.2:c.-295_-294del, NM_001330771.1:c.-295_-294del, NM_001330770.2:c.-295_-294del, NM_001330770.1:c.-295_-294del, NM_001330772.2:c.-295_-294del, NM_001330772.1:c.-295_-294del, XM_011545471.4:c.-295_-294del, XM_011545471.3:c.-295_-294del, XM_011545471.2:c.-295_-294del, XM_011545471.1:c.-295_-294del, XM_011545472.4:c.-295_-294del, XM_011545472.3:c.-295_-294del, XM_011545472.2:c.-295_-294del, XM_011545472.1:c.-295_-294del, XM_017029358.3:c.-295_-294del, XM_017029358.2:c.-295_-294del, XM_017029358.1:c.-295_-294del

Select item 149122808119.

rs1491228081 has merged into rs58020537 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: X:21567810 (GRCh38)
X:21585928 (GRCh37)
Canonical SPDI:: NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:21567795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
GTGT=0.1483/560 (1000Genomes)
HGVS:: NC_000023.11:g.21567796GT[7], NC_000023.11:g.21567796GT[8], NC_000023.11:g.21567796GT[9], NC_000023.11:g.21567796GT[12], NC_000023.11:g.21567796GT[13], NC_000023.11:g.21567796GT[14], NC_000023.11:g.21567796GT[15], NC_000023.11:g.21567796GT[16], NC_000023.11:g.21567796GT[17], NC_000023.11:g.21567796GT[18], NC_000023.11:g.21567796GT[19], NC_000023.11:g.21567796GT[20], NC_000023.11:g.21567796GT[21], NC_000023.11:g.21567796GT[22], NC_000023.11:g.21567796GT[24], NC_000023.11:g.21567796GT[25], NC_000023.11:g.21567796GT[26], NC_000023.11:g.21567796GT[27], NC_000023.11:g.21567796GT[28], NC_000023.11:g.21567796GT[29], NC_000023.11:g.21567796GT[30], NC_000023.11:g.21567796GT[31], NC_000023.10:g.21585914GT[7], NC_000023.10:g.21585914GT[8], NC_000023.10:g.21585914GT[9], NC_000023.10:g.21585914GT[12], NC_000023.10:g.21585914GT[13], NC_000023.10:g.21585914GT[14], NC_000023.10:g.21585914GT[15], NC_000023.10:g.21585914GT[16], NC_000023.10:g.21585914GT[17], NC_000023.10:g.21585914GT[18], NC_000023.10:g.21585914GT[19], NC_000023.10:g.21585914GT[20], NC_000023.10:g.21585914GT[21], NC_000023.10:g.21585914GT[22], NC_000023.10:g.21585914GT[24], NC_000023.10:g.21585914GT[25], NC_000023.10:g.21585914GT[26], NC_000023.10:g.21585914GT[27], NC_000023.10:g.21585914GT[28], NC_000023.10:g.21585914GT[29], NC_000023.10:g.21585914GT[30], NC_000023.10:g.21585914GT[31], NG_016266.1:g.198379GT[7], NG_016266.1:g.198379GT[8], NG_016266.1:g.198379GT[9], NG_016266.1:g.198379GT[12], NG_016266.1:g.198379GT[13], NG_016266.1:g.198379GT[14], NG_016266.1:g.198379GT[15], NG_016266.1:g.198379GT[16], NG_016266.1:g.198379GT[17], NG_016266.1:g.198379GT[18], NG_016266.1:g.198379GT[19], NG_016266.1:g.198379GT[20], NG_016266.1:g.198379GT[21], NG_016266.1:g.198379GT[22], NG_016266.1:g.198379GT[24], NG_016266.1:g.198379GT[25], NG_016266.1:g.198379GT[26], NG_016266.1:g.198379GT[27], NG_016266.1:g.198379GT[28], NG_016266.1:g.198379GT[29], NG_016266.1:g.198379GT[30], NG_016266.1:g.198379GT[31]

Select item 149122708720.

rs1491227087 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:21651835 (GRCh38)
X:21669954 (GRCh37)
Canonical SPDI:: NC_000023.11:21651835:GGGGGG:GGGGGGG
Gene:: CNKSR2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.21651841dup, NC_000023.10:g.21669959dup, NG_016266.1:g.282424dup

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