SNP Links for Gene (Select 22887) - SNP

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Select item 14915670721.

rs1491567072 has merged into rs111699698 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 1:42324342 (GRCh38)
1:42790013 (GRCh37)
Canonical SPDI:: NC_000001.11:42324339:TATATA:TA,NC_000001.11:42324339:TATATA:TATA,NC_000001.11:42324339:TATATA:TATATATA
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.10714/3 (GENOME_DK)
-=0.18863/945 (1000Genomes)
-=0.19798/352 (Korea1K)
-=0.22333/134 (NorthernSweden)
-=0.22798/3809 (TOMMO)
-=0.26483/982 (TWINSUK)
-=0.26492/1021 (ALSPAC)
HGVS:: NC_000001.11:g.42324340TA[1], NC_000001.11:g.42324340TA[2], NC_000001.11:g.42324340TA[4], NC_000001.10:g.42790011TA[1], NC_000001.10:g.42790011TA[2], NC_000001.10:g.42790011TA[4]

Select item 14915559862.

rs1491555986 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTGTAT [Show Flanks]
Chromosome:: 1:42324080 (GRCh38)
1:42789752 (GRCh37)
Canonical SPDI:: NC_000001.11:42324080:T:TGTAT,NC_000001.11:42324080:T:TGTGTAT
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGTAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.42324081_42324082insGTAT, NC_000001.11:g.42324081TG[2]TAT[1], NC_000001.10:g.42789752_42789753insGTAT, NC_000001.10:g.42789752TG[2]TAT[1]

Select item 14915538843.

rs1491553884 has merged into rs967424141 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 1:42237945 (GRCh38)
1:42703616 (GRCh37)
Canonical SPDI:: NC_000001.11:42237939:ATATATATA:ATATA,NC_000001.11:42237939:ATATATATA:ATATATA,NC_000001.11:42237939:ATATATATA:ATATATATATA
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000646/171 (TOPMED)
-=0.010518/39 (TWINSUK)
-=0.017644/68 (ALSPAC)
HGVS:: NC_000001.11:g.42237941TA[2], NC_000001.11:g.42237941TA[3], NC_000001.11:g.42237941TA[5], NC_000001.10:g.42703612TA[2], NC_000001.10:g.42703612TA[3], NC_000001.10:g.42703612TA[5]

Select item 14915475244.

rs1491547524 [Homo sapiens]

Variant type:: INS
Alleles:: ->CATATA [Show Flanks]
Chromosome:: 1:42205914 (GRCh38)
1:42671586 (GRCh37)
Canonical SPDI:: NC_000001.11:42205914::CATATA
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CATATA=0./0 (ALFA)
CATATA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42205914_42205915insCATATA, NC_000001.10:g.42671585_42671586insCATATA

Select item 14915424505.

rs1491542450 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:42324080 (GRCh38)
1:42789751 (GRCh37)
Canonical SPDI:: NC_000001.11:42324079:GT:
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.42324080_42324081del, NC_000001.10:g.42789751_42789752del

Select item 14915301256.

rs1491530125 has merged into rs34865801 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:42231165 (GRCh38)
1:42696836 (GRCh37)
Canonical SPDI:: NC_000001.11:42231152:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:42231152:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42231152:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42231152:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42231152:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42231152:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2195/846 (ALSPAC)
A=0.2211/820 (TWINSUK)
A=0.275/11 (GENOME_DK)
A=0.2973/1489 (1000Genomes)
HGVS:: NC_000001.11:g.42231165_42231167del, NC_000001.11:g.42231166_42231167del, NC_000001.11:g.42231167del, NC_000001.11:g.42231167dup, NC_000001.11:g.42231166_42231167dup, NC_000001.11:g.42231165_42231167dup, NC_000001.10:g.42696836_42696838del, NC_000001.10:g.42696837_42696838del, NC_000001.10:g.42696838del, NC_000001.10:g.42696838dup, NC_000001.10:g.42696837_42696838dup, NC_000001.10:g.42696836_42696838dup

Select item 14915284657.

rs1491528465 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:42335798 (GRCh38)
1:42801470 (GRCh37)
Canonical SPDI:: NC_000001.11:42335798:T:TT
Gene:: FOXJ3 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000024/2 (GnomAD)
HGVS:: NC_000001.11:g.42335799dup, NC_000001.10:g.42801470dup, XM_024454163.2:c.-335dup, XM_024454163.1:c.-335dup, NM_001198850.2:c.-191dup, NM_001198850.1:c.-191dup, XM_047449488.1:c.-191dup

Select item 14915260708.

rs1491526070 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:42293490 (GRCh38)
1:42759161 (GRCh37)
Canonical SPDI:: NC_000001.11:42293489:AAAAAAAA:AAAAAAA,NC_000001.11:42293489:AAAAAAAA:AAAAAAAAA
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.000054/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.42293497del, NC_000001.11:g.42293497dup, NC_000001.10:g.42759168del, NC_000001.10:g.42759168dup

Select item 14914691779.

rs1491469177 has merged into rs5773767 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 1:42331840 (GRCh38)
1:42797511 (GRCh37)
Canonical SPDI:: NC_000001.11:42331829:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:42331829:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:42331829:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: FOXJ3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.059932/35 (NorthernSweden)
-=0.0676/17893 (TOPMED)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000001.11:g.42331840_42331841del, NC_000001.11:g.42331841del, NC_000001.11:g.42331841dup, NC_000001.10:g.42797511_42797512del, NC_000001.10:g.42797512del, NC_000001.10:g.42797512dup, XM_047449471.1:c.-5589_-5588del, XM_047449471.1:c.-5588del, XM_047449471.1:c.-5588dup, XM_047449474.1:c.-5399_-5398del, XM_047449474.1:c.-5398del, XM_047449474.1:c.-5398dup, XM_047449489.1:c.-5399_-5398del, XM_047449489.1:c.-5398del, XM_047449489.1:c.-5398dup

Select item 149144993110.

rs1491449931 has merged into rs4019583 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42245175 (GRCh38)
1:42710846 (GRCh37)
Canonical SPDI:: NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.2009/1006 (1000Genomes)
AAA=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.42245175_42245185del, NC_000001.11:g.42245176_42245185del, NC_000001.11:g.42245180_42245185del, NC_000001.11:g.42245181_42245185del, NC_000001.11:g.42245182_42245185del, NC_000001.11:g.42245183_42245185del, NC_000001.11:g.42245184_42245185del, NC_000001.11:g.42245185del, NC_000001.11:g.42245185dup, NC_000001.11:g.42245184_42245185dup, NC_000001.11:g.42245181_42245185dup, NC_000001.11:g.42245175_42245185dup, NC_000001.10:g.42710846_42710856del, NC_000001.10:g.42710847_42710856del, NC_000001.10:g.42710851_42710856del, NC_000001.10:g.42710852_42710856del, NC_000001.10:g.42710853_42710856del, NC_000001.10:g.42710854_42710856del, NC_000001.10:g.42710855_42710856del, NC_000001.10:g.42710856del, NC_000001.10:g.42710856dup, NC_000001.10:g.42710855_42710856dup, NC_000001.10:g.42710852_42710856dup, NC_000001.10:g.42710846_42710856dup

Select item 149143942711.

rs1491439427 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:42222049 (GRCh38)
1:42687720 (GRCh37)
Canonical SPDI:: NC_000001.11:42222048:AA:
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00076/44 (GnomAD)
HGVS:: NC_000001.11:g.42222049_42222050del, NC_000001.10:g.42687720_42687721del

Select item 149143385312.

rs1491433853 has merged into rs749025654 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATACACTGTGTATATACAGTATATATA,TATACAGTATATATA,TATACAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACAGTATATATACACTGTGTATATACAGTATATATA,TATAGTATATACACAGTGTATATATACAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACACTATATATACACTGTGTATATACAGTATATATA,TATAGTGTATATATACACTATATATACACTGTGTATATACAGTATATATA,TATATA,TATATATATA [Show Flanks]
Chromosome:: 1:42324120 (GRCh38)
1:42789791 (GRCh37)
Canonical SPDI:: NC_000001.11:42324115:TATATA:TATA,NC_000001.11:42324115:TATATA:TATATATA,NC_000001.11:42324115:TATATA:TATATATACACTGTGTATATACAGTATATATA,NC_000001.11:42324115:TATATA:TATATATACAGTATATATA,NC_000001.11:42324115:TATATA:TATATATACAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACAGTATATATACACTGTGTATATACAGTATATATA,NC_000001.11:42324115:TATATA:TATATATAGTATATACACAGTGTATATATACAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACACTATATATACACTGTGTATATACAGTATATATA,NC_000001.11:42324115:TATATA:TATATATAGTGTATATATACACTATATATACACTGTGTATATACAGTATATATA,NC_000001.11:42324115:TATATA:TATATATATA,NC_000001.11:42324115:TATATA:TATATATATATATA
Gene:: FOXJ3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TATATATACAGTA=0.00615/135 (TOMMO)
HGVS:: NC_000001.11:g.42324116TA[2], NC_000001.11:g.42324116TA[4], NC_000001.11:g.42324116_42324121TA[4]CACTGTGTATATACAGTATATATA[1], NC_000001.11:g.42324116_42324121TA[4]CAGTATATATA[1], NC_000001.11:g.42324116_42324121TA[4]CAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACAGTATATATACACTGTGTATATACAGTATATATA[1], NC_000001.11:g.42324116_42324121TA[4]GTATATACACAGTGTATATATACAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACACTATATATACACTGTGTATATACAGTATATATA[1], NC_000001.11:g.42324116_42324121TA[4]GT[2]ATATATACACT[2]GT[2]AT[2]ACAGTATATATA[1], NC_000001.11:g.42324116TA[5], NC_000001.11:g.42324116TA[7], NC_000001.10:g.42789787TA[2], NC_000001.10:g.42789787TA[4], NC_000001.10:g.42789787_42789792TA[4]CACTGTGTATATACAGTATATATA[1], NC_000001.10:g.42789787_42789792TA[4]CAGTATATATA[1], NC_000001.10:g.42789787_42789792TA[4]CAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACAGTATATATACACTGTGTATATACAGTATATATA[1], NC_000001.10:g.42789787_42789792TA[4]GTATATACACAGTGTATATATACAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACACTATATATACACTGTGTATATACAGTATATATA[1], NC_000001.10:g.42789787_42789792TA[4]GT[2]ATATATACACT[2]GT[2]AT[2]ACAGTATATATA[1], NC_000001.10:g.42789787TA[5], NC_000001.10:g.42789787TA[7]

Select item 149140545113.

rs1491405451 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:42245166 (GRCh38)
1:42710837 (GRCh37)
Canonical SPDI:: NC_000001.11:42245165:CA:
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.42245166_42245167del, NC_000001.10:g.42710837_42710838del

Select item 149139542114.

rs1491395421 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:42335799 (GRCh38)
1:42801470 (GRCh37)
Canonical SPDI:: NC_000001.11:42335797:GTG:G
Gene:: FOXJ3 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.42335799_42335800del, NC_000001.10:g.42801470_42801471del, XM_024454163.2:c.-335_-334del, XM_024454163.1:c.-335_-334del, NM_001198850.2:c.-191_-190del, NM_001198850.1:c.-191_-190del, XM_047449488.1:c.-191_-190del

Select item 149138296615.

rs1491382966 has merged into rs71065112 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42280452 (GRCh38)
1:42746123 (GRCh37)
Canonical SPDI:: NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42280438:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FOXJ3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000001.11:g.42280452_42280466del, NC_000001.11:g.42280453_42280466del, NC_000001.11:g.42280454_42280466del, NC_000001.11:g.42280455_42280466del, NC_000001.11:g.42280456_42280466del, NC_000001.11:g.42280457_42280466del, NC_000001.11:g.42280458_42280466del, NC_000001.11:g.42280459_42280466del, NC_000001.11:g.42280460_42280466del, NC_000001.11:g.42280461_42280466del, NC_000001.11:g.42280462_42280466del, NC_000001.11:g.42280463_42280466del, NC_000001.11:g.42280464_42280466del, NC_000001.11:g.42280465_42280466del, NC_000001.11:g.42280466del, NC_000001.11:g.42280466dup, NC_000001.11:g.42280465_42280466dup, NC_000001.11:g.42280464_42280466dup, NC_000001.11:g.42280463_42280466dup, NC_000001.11:g.42280462_42280466dup, NC_000001.11:g.42280461_42280466dup, NC_000001.11:g.42280460_42280466dup, NC_000001.11:g.42280459_42280466dup, NC_000001.11:g.42280458_42280466dup, NC_000001.11:g.42280457_42280466dup, NC_000001.11:g.42280456_42280466dup, NC_000001.11:g.42280454_42280466dup, NC_000001.11:g.42280453_42280466dup, NC_000001.11:g.42280441_42280466dup, NC_000001.10:g.42746123_42746137del, NC_000001.10:g.42746124_42746137del, NC_000001.10:g.42746125_42746137del, NC_000001.10:g.42746126_42746137del, NC_000001.10:g.42746127_42746137del, NC_000001.10:g.42746128_42746137del, NC_000001.10:g.42746129_42746137del, NC_000001.10:g.42746130_42746137del, NC_000001.10:g.42746131_42746137del, NC_000001.10:g.42746132_42746137del, NC_000001.10:g.42746133_42746137del, NC_000001.10:g.42746134_42746137del, NC_000001.10:g.42746135_42746137del, NC_000001.10:g.42746136_42746137del, NC_000001.10:g.42746137del, NC_000001.10:g.42746137dup, NC_000001.10:g.42746136_42746137dup, NC_000001.10:g.42746135_42746137dup, NC_000001.10:g.42746134_42746137dup, NC_000001.10:g.42746133_42746137dup, NC_000001.10:g.42746132_42746137dup, NC_000001.10:g.42746131_42746137dup, NC_000001.10:g.42746130_42746137dup, NC_000001.10:g.42746129_42746137dup, NC_000001.10:g.42746128_42746137dup, NC_000001.10:g.42746127_42746137dup, NC_000001.10:g.42746125_42746137dup, NC_000001.10:g.42746124_42746137dup, NC_000001.10:g.42746112_42746137dup

Select item 149137380316.

rs1491373803 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAAA [Show Flanks]
Chromosome:: 1:42222110 (GRCh38)
1:42687781 (GRCh37)
Canonical SPDI:: NC_000001.11:42222108:AAA:A,NC_000001.11:42222108:AAA:AA,NC_000001.11:42222108:AAA:AAAAAA
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42222110_42222111del, NC_000001.11:g.42222111del, NC_000001.11:g.42222109_42222111dup, NC_000001.10:g.42687781_42687782del, NC_000001.10:g.42687782del, NC_000001.10:g.42687780_42687782dup

Select item 149134118617.

rs1491341186 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:42205915 (GRCh38)
1:42671586 (GRCh37)
Canonical SPDI:: NC_000001.11:42205913:TTT:T
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.42205915_42205916del, NC_000001.10:g.42671586_42671587del

Select item 149133916618.

rs1491339166 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGAGAG [Show Flanks]
Chromosome:: 1:42183262 (GRCh38)
1:42648934 (GRCh37)
Canonical SPDI:: NC_000001.11:42183262:GAGAGAGGAGAG:GAGAGAGGAGAGAGGAGAG
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGGAGAGAGGAGAG=0./0 (ALFA)
GAGAGAG=0.000008/1 (GnomAD)
GAGAGAG=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42183268_42183274dup, NC_000001.10:g.42648939_42648945dup

Select item 149132821619.

rs1491328216 has merged into rs61375062 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:42263938 (GRCh38)
1:42729609 (GRCh37)
Canonical SPDI:: NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42263930:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTT=0.4447/2227 (1000Genomes)
HGVS:: NC_000001.11:g.42263938_42263958del, NC_000001.11:g.42263940_42263958del, NC_000001.11:g.42263941_42263958del, NC_000001.11:g.42263942_42263958del, NC_000001.11:g.42263943_42263958del, NC_000001.11:g.42263944_42263958del, NC_000001.11:g.42263945_42263958del, NC_000001.11:g.42263946_42263958del, NC_000001.11:g.42263947_42263958del, NC_000001.11:g.42263948_42263958del, NC_000001.11:g.42263949_42263958del, NC_000001.11:g.42263950_42263958del, NC_000001.11:g.42263951_42263958del, NC_000001.11:g.42263952_42263958del, NC_000001.11:g.42263953_42263958del, NC_000001.11:g.42263954_42263958del, NC_000001.11:g.42263955_42263958del, NC_000001.11:g.42263956_42263958del, NC_000001.11:g.42263957_42263958del, NC_000001.11:g.42263958del, NC_000001.11:g.42263958dup, NC_000001.11:g.42263957_42263958dup, NC_000001.11:g.42263956_42263958dup, NC_000001.11:g.42263955_42263958dup, NC_000001.11:g.42263954_42263958dup, NC_000001.11:g.42263953_42263958dup, NC_000001.11:g.42263952_42263958dup, NC_000001.11:g.42263951_42263958dup, NC_000001.11:g.42263949_42263958dup, NC_000001.11:g.42263948_42263958dup, NC_000001.11:g.42263947_42263958dup, NC_000001.11:g.42263946_42263958dup, NC_000001.11:g.42263945_42263958dup, NC_000001.11:g.42263958_42263959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.42729609_42729629del, NC_000001.10:g.42729611_42729629del, NC_000001.10:g.42729612_42729629del, NC_000001.10:g.42729613_42729629del, NC_000001.10:g.42729614_42729629del, NC_000001.10:g.42729615_42729629del, NC_000001.10:g.42729616_42729629del, NC_000001.10:g.42729617_42729629del, NC_000001.10:g.42729618_42729629del, NC_000001.10:g.42729619_42729629del, NC_000001.10:g.42729620_42729629del, NC_000001.10:g.42729621_42729629del, NC_000001.10:g.42729622_42729629del, NC_000001.10:g.42729623_42729629del, NC_000001.10:g.42729624_42729629del, NC_000001.10:g.42729625_42729629del, NC_000001.10:g.42729626_42729629del, NC_000001.10:g.42729627_42729629del, NC_000001.10:g.42729628_42729629del, NC_000001.10:g.42729629del, NC_000001.10:g.42729629dup, NC_000001.10:g.42729628_42729629dup, NC_000001.10:g.42729627_42729629dup, NC_000001.10:g.42729626_42729629dup, NC_000001.10:g.42729625_42729629dup, NC_000001.10:g.42729624_42729629dup, NC_000001.10:g.42729623_42729629dup, NC_000001.10:g.42729622_42729629dup, NC_000001.10:g.42729620_42729629dup, NC_000001.10:g.42729619_42729629dup, NC_000001.10:g.42729618_42729629dup, NC_000001.10:g.42729617_42729629dup, NC_000001.10:g.42729616_42729629dup, NC_000001.10:g.42729629_42729630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149132064620.

rs1491320646 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:42306297 (GRCh38)
1:42771969 (GRCh37)
Canonical SPDI:: NC_000001.11:42306297:C:CC
Gene:: FOXJ3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.42306298dup, NC_000001.10:g.42771969dup

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