SNP Links for Gene (Select 11069) - SNP

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Select item 14915668341.

rs1491566834 has merged into rs10712221 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:172903378 (GRCh38)
2:173768106 (GRCh37)
Canonical SPDI:: NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172903368:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.375/3 (KOREAN)
HGVS:: NC_000002.12:g.172903378_172903388del, NC_000002.12:g.172903379_172903388del, NC_000002.12:g.172903380_172903388del, NC_000002.12:g.172903385_172903388del, NC_000002.12:g.172903386_172903388del, NC_000002.12:g.172903387_172903388del, NC_000002.12:g.172903388del, NC_000002.12:g.172903388dup, NC_000002.12:g.172903387_172903388dup, NC_000002.12:g.172903386_172903388dup, NC_000002.12:g.172903385_172903388dup, NC_000002.11:g.173768106_173768116del, NC_000002.11:g.173768107_173768116del, NC_000002.11:g.173768108_173768116del, NC_000002.11:g.173768113_173768116del, NC_000002.11:g.173768114_173768116del, NC_000002.11:g.173768115_173768116del, NC_000002.11:g.173768116del, NC_000002.11:g.173768116dup, NC_000002.11:g.173768115_173768116dup, NC_000002.11:g.173768114_173768116dup, NC_000002.11:g.173768113_173768116dup

Select item 14915581812.

rs1491558181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGC [Show Flanks]
Chromosome:: 2:173011160 (GRCh38)
2:173875889 (GRCh37)
Canonical SPDI:: NC_000002.12:173011160:CGC:CGCACGC
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCACGC=0.00067/8 (ALFA)
CGCA=0.00336/44 (TOMMO)
CGCA=0.00669/11 (Korea1K)
CGCA=0.01709/148 (GnomAD)
HGVS:: NC_000002.12:g.173011163_173011164insACGC, NC_000002.11:g.173875891_173875892insACGC

Select item 14915332253.

rs1491533225 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:172937801 (GRCh38)
2:173802529 (GRCh37)
Canonical SPDI:: NC_000002.12:172937800:AT:
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000164/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000002.12:g.172937801_172937802del, NC_000002.11:g.173802529_173802530del

Select item 14915307124.

rs1491530712 has merged into rs5836398 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 2:173024232 (GRCh38)
2:173888960 (GRCh37)
Canonical SPDI:: NC_000002.12:173024218:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:173024218:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:173024218:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:173024218:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:173024218:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:173024218:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: RAPGEF4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1327/78 (NorthernSweden)
T=0.275/11 (GENOME_DK)
HGVS:: NC_000002.12:g.173024232_173024235del, NC_000002.12:g.173024233_173024235del, NC_000002.12:g.173024234_173024235del, NC_000002.12:g.173024235del, NC_000002.12:g.173024235dup, NC_000002.12:g.173024234_173024235dup, NC_000002.11:g.173888960_173888963del, NC_000002.11:g.173888961_173888963del, NC_000002.11:g.173888962_173888963del, NC_000002.11:g.173888963del, NC_000002.11:g.173888963dup, NC_000002.11:g.173888962_173888963dup

Select item 14915165585.

rs1491516558 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGAGGGAGGGA [Show Flanks]
Chromosome:: 2:172926037 (GRCh38)
2:173790766 (GRCh37)
Canonical SPDI:: NC_000002.12:172926037:GGAGGGAGGGA:GGAGGGAGGGACGGAGGGAGGGA
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGAGGGAGGGACGGAGGGAGGGA=0./0 (ALFA)
GGAGGGAGGGAC=0.00004/1 (GnomAD)
HGVS:: NC_000002.12:g.172926038_172926048GGAG[2]GGACGGAGGGAGGGA[1], NC_000002.11:g.173790766_173790776GGAG[2]GGACGGAGGGAGGGA[1]

Select item 14915132886.

rs1491513288 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:173028558 (GRCh38)
2:173893287 (GRCh37)
Canonical SPDI:: NC_000002.12:173028558:A:ACA
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000042/11 (TOPMED)
AC=0.000064/9 (GnomAD)
HGVS:: NC_000002.12:g.173028559_173028560insCA, NC_000002.11:g.173893287_173893288insCA

Select item 14914969707.

rs1491496970 has merged into rs1553548086 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 2:173011192 (GRCh38)
2:173875920 (GRCh37)
Canonical SPDI:: NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:173011170:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: RAPGEF4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000002.12:g.173011172AC[10], NC_000002.12:g.173011172AC[11], NC_000002.12:g.173011172AC[13], NC_000002.12:g.173011172AC[14], NC_000002.12:g.173011172AC[15], NC_000002.12:g.173011172AC[16], NC_000002.12:g.173011172AC[17], NC_000002.12:g.173011172AC[18], NC_000002.12:g.173011172AC[20], NC_000002.12:g.173011172AC[21], NC_000002.12:g.173011172AC[22], NC_000002.12:g.173011172AC[23], NC_000002.12:g.173011172AC[24], NC_000002.12:g.173011172AC[25], NC_000002.12:g.173011172AC[26], NC_000002.12:g.173011172AC[27], NC_000002.12:g.173011172AC[28], NC_000002.12:g.173011172AC[29], NC_000002.11:g.173875900AC[10], NC_000002.11:g.173875900AC[11], NC_000002.11:g.173875900AC[13], NC_000002.11:g.173875900AC[14], NC_000002.11:g.173875900AC[15], NC_000002.11:g.173875900AC[16], NC_000002.11:g.173875900AC[17], NC_000002.11:g.173875900AC[18], NC_000002.11:g.173875900AC[20], NC_000002.11:g.173875900AC[21], NC_000002.11:g.173875900AC[22], NC_000002.11:g.173875900AC[23], NC_000002.11:g.173875900AC[24], NC_000002.11:g.173875900AC[25], NC_000002.11:g.173875900AC[26], NC_000002.11:g.173875900AC[27], NC_000002.11:g.173875900AC[28], NC_000002.11:g.173875900AC[29]

Select item 14914946048.

rs1491494604 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:173034873 (GRCh38)
2:173899601 (GRCh37)
Canonical SPDI:: NC_000002.12:173034872:AA:
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.173034873_173034874del, NC_000002.11:g.173899601_173899602del

Select item 14914740909.

rs1491474090 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACA [Show Flanks]
Chromosome:: 2:173034871 (GRCh38)
2:173899600 (GRCh37)
Canonical SPDI:: NC_000002.12:173034871:CA:CACACACACA
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.173034872CA[5], NC_000002.11:g.173899600CA[5]

Select item 149146782610.

rs1491467826 has merged into rs398104979 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 2:172803590 (GRCh38)
2:173668318 (GRCh37)
Canonical SPDI:: NC_000002.12:172803588:ACA:A,NC_000002.12:172803588:ACA:ACACA
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.172803590_172803591del, NC_000002.12:g.172803590_172803591dup, NC_000002.11:g.173668318_173668319del, NC_000002.11:g.173668318_173668319dup

Select item 149145790211.

rs1491457902 has merged into rs1553533366 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG [Show Flanks]
Chromosome:: 2:172931178 (GRCh38)
2:173795906 (GRCh37)
Canonical SPDI:: NC_000002.12:172931172:GGGGGGGGGGGG:GGGGG,NC_000002.12:172931172:GGGGGGGGGGGG:GGGGGGGGGG,NC_000002.12:172931172:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000002.12:172931172:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000002.12:172931172:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000002.12:172931172:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000002.12:172931172:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000002.12:172931172:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000002.12:g.172931178_172931184del, NC_000002.12:g.172931183_172931184del, NC_000002.12:g.172931184del, NC_000002.12:g.172931184dup, NC_000002.12:g.172931183_172931184dup, NC_000002.12:g.172931182_172931184dup, NC_000002.12:g.172931181_172931184dup, NC_000002.12:g.172931180_172931184dup, NC_000002.11:g.173795906_173795912del, NC_000002.11:g.173795911_173795912del, NC_000002.11:g.173795912del, NC_000002.11:g.173795912dup, NC_000002.11:g.173795911_173795912dup, NC_000002.11:g.173795910_173795912dup, NC_000002.11:g.173795909_173795912dup, NC_000002.11:g.173795908_173795912dup

Select item 149145583412.

rs1491455834 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:173024219 (GRCh38)
2:173888948 (GRCh37)
Canonical SPDI:: NC_000002.12:173024219:T:TAT
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.00089/8 (GnomAD)
HGVS:: NC_000002.12:g.173024220_173024221insAT, NC_000002.11:g.173888948_173888949insAT

Select item 149145510213.

rs1491455102 has merged into rs1491026618 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 2:172925618 (GRCh38)
2:173790346 (GRCh37)
Canonical SPDI:: NC_000002.12:172925616:CGC:C,NC_000002.12:172925616:CGC:CGCGC
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.172925618_172925619del, NC_000002.12:g.172925618_172925619dup, NC_000002.11:g.173790346_173790347del, NC_000002.11:g.173790346_173790347dup

Select item 149143326514.

rs1491433265 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 2:173044707 (GRCh38)
2:173909435 (GRCh37)
Canonical SPDI:: NC_000002.12:173044706:GGGGGG:GGGGG,NC_000002.12:173044706:GGGGGG:GGGGGGG
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.173044712del, NC_000002.12:g.173044712dup, NC_000002.11:g.173909440del, NC_000002.11:g.173909440dup

Select item 149140713815.

rs1491407138 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 2:172926038 (GRCh38)
2:173790766 (GRCh37)
Canonical SPDI:: NC_000002.12:172926036:GGG:G,NC_000002.12:172926036:GGG:GG
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00005/1 (TOMMO)
-=0.00008/1 (GnomAD)
HGVS:: NC_000002.12:g.172926038_172926039del, NC_000002.12:g.172926039del, NC_000002.11:g.173790766_173790767del, NC_000002.11:g.173790767del

Select item 149140064316.

rs1491400643 has merged into rs10534191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 2:172925602 (GRCh38)
2:173790330 (GRCh37)
Canonical SPDI:: NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:172925587:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
-=0.2818/1086 (ALSPAC)
HGVS:: NC_000002.12:g.172925588AC[7], NC_000002.12:g.172925588AC[8], NC_000002.12:g.172925588AC[9], NC_000002.12:g.172925588AC[10], NC_000002.12:g.172925588AC[11], NC_000002.12:g.172925588AC[12], NC_000002.12:g.172925588AC[13], NC_000002.12:g.172925588AC[14], NC_000002.12:g.172925588AC[16], NC_000002.12:g.172925588AC[17], NC_000002.12:g.172925588AC[18], NC_000002.12:g.172925588AC[19], NC_000002.12:g.172925588AC[21], NC_000002.12:g.172925588AC[22], NC_000002.12:g.172925588AC[23], NC_000002.12:g.172925588AC[24], NC_000002.11:g.173790316AC[7], NC_000002.11:g.173790316AC[8], NC_000002.11:g.173790316AC[9], NC_000002.11:g.173790316AC[10], NC_000002.11:g.173790316AC[11], NC_000002.11:g.173790316AC[12], NC_000002.11:g.173790316AC[13], NC_000002.11:g.173790316AC[14], NC_000002.11:g.173790316AC[16], NC_000002.11:g.173790316AC[17], NC_000002.11:g.173790316AC[18], NC_000002.11:g.173790316AC[19], NC_000002.11:g.173790316AC[21], NC_000002.11:g.173790316AC[22], NC_000002.11:g.173790316AC[23], NC_000002.11:g.173790316AC[24]

Select item 149138222617.

rs1491382226 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 2:172892084 (GRCh38)
2:173756812 (GRCh37)
Canonical SPDI:: NC_000002.12:172892083:CCC:CC,NC_000002.12:172892083:CCC:CCCC
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.172892086del, NC_000002.12:g.172892086dup, NC_000002.11:g.173756814del, NC_000002.11:g.173756814dup

Select item 149136592118.

rs1491365921 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:172925587 (GRCh38)
2:173790315 (GRCh37)
Canonical SPDI:: NC_000002.12:172925586:TA:
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000002.12:g.172925587_172925588del, NC_000002.11:g.173790315_173790316del

Select item 149133757519.

rs1491337575 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:172831265 (GRCh38)
2:173695993 (GRCh37)
Canonical SPDI:: NC_000002.12:172831264:AC:
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000002.12:g.172831265_172831266del, NC_000002.11:g.173695993_173695994del

Select item 149132243820.

rs1491322438 has merged into rs34104170 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:172937049 (GRCh38)
2:173801777 (GRCh37)
Canonical SPDI:: NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172937037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAPGEF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.172937049_172937060del, NC_000002.12:g.172937050_172937060del, NC_000002.12:g.172937051_172937060del, NC_000002.12:g.172937052_172937060del, NC_000002.12:g.172937053_172937060del, NC_000002.12:g.172937054_172937060del, NC_000002.12:g.172937055_172937060del, NC_000002.12:g.172937056_172937060del, NC_000002.12:g.172937057_172937060del, NC_000002.12:g.172937058_172937060del, NC_000002.12:g.172937059_172937060del, NC_000002.12:g.172937060del, NC_000002.12:g.172937060dup, NC_000002.12:g.172937059_172937060dup, NC_000002.12:g.172937058_172937060dup, NC_000002.12:g.172937057_172937060dup, NC_000002.12:g.172937056_172937060dup, NC_000002.12:g.172937055_172937060dup, NC_000002.12:g.172937054_172937060dup, NC_000002.12:g.172937053_172937060dup, NC_000002.11:g.173801777_173801788del, NC_000002.11:g.173801778_173801788del, NC_000002.11:g.173801779_173801788del, NC_000002.11:g.173801780_173801788del, NC_000002.11:g.173801781_173801788del, NC_000002.11:g.173801782_173801788del, NC_000002.11:g.173801783_173801788del, NC_000002.11:g.173801784_173801788del, NC_000002.11:g.173801785_173801788del, NC_000002.11:g.173801786_173801788del, NC_000002.11:g.173801787_173801788del, NC_000002.11:g.173801788del, NC_000002.11:g.173801788dup, NC_000002.11:g.173801787_173801788dup, NC_000002.11:g.173801786_173801788dup, NC_000002.11:g.173801785_173801788dup, NC_000002.11:g.173801784_173801788dup, NC_000002.11:g.173801783_173801788dup, NC_000002.11:g.173801782_173801788dup, NC_000002.11:g.173801781_173801788dup

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