SNP Links for Gene (Select 26999) - SNP

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Select item 14915884641.

rs1491588464 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATGTGTGTGTGTGTGTGTGT,GTGTGTATGTGTGTGTGTGTGTGTGT,GTGTGTGTATGTGTGTGTGTGTGTGTGT,GTGTGTGTGTATGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:157307637 (GRCh38)
5:156734646 (GRCh37)
Canonical SPDI:: NC_000005.10:157307637:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT,NC_000005.10:157307637:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT,NC_000005.10:157307637:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT,NC_000005.10:157307637:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT
Gene:: CYFIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.157307638_157307656TG[10]TATGTGTGTGTGTGTGTGTGT[1], NC_000005.10:g.157307638_157307656TG[12]TATGTGTGTGTGTGTGTGTGT[1], NC_000005.10:g.157307638_157307656TG[13]TATGTGTGTGTGTGTGTGTGT[1], NC_000005.10:g.157307638_157307656TG[14]TATGTGTGTGTGTGTGTGTGT[1], NC_000005.9:g.156734646_156734664TG[10]TATGTGTGTGTGTGTGTGTGT[1], NC_000005.9:g.156734646_156734664TG[12]TATGTGTGTGTGTGTGTGTGT[1], NC_000005.9:g.156734646_156734664TG[13]TATGTGTGTGTGTGTGTGTGT[1], NC_000005.9:g.156734646_156734664TG[14]TATGTGTGTGTGTGTGTGTGT[1]

Select item 14915627082.

rs1491562708 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA,TTTTTTA [Show Flanks]
Chromosome:: 5:157369898 (GRCh38)
5:156796907 (GRCh37)
Canonical SPDI:: NC_000005.10:157369898::TA,NC_000005.10:157369898::TTA,NC_000005.10:157369898::TTTTTTA
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0.00117/19 (ALFA)
HGVS:: NC_000005.10:g.157369898_157369899insTA, NC_000005.10:g.157369898_157369899insTTA, NC_000005.10:g.157369898_157369899insTTTTTTA, NC_000005.9:g.156796906_156796907insTA, NC_000005.9:g.156796906_156796907insTTA, NC_000005.9:g.156796906_156796907insTTTTTTA

Select item 14915588413.

rs1491558841 has merged into rs3052310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:157393219 (GRCh38)
5:156820227 (GRCh37)
Canonical SPDI:: NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0493/190 (ALSPAC)
-=0.3335/1670 (1000Genomes)
HGVS:: NC_000005.10:g.157393219_157393224del, NC_000005.10:g.157393220_157393224del, NC_000005.10:g.157393221_157393224del, NC_000005.10:g.157393222_157393224del, NC_000005.10:g.157393223_157393224del, NC_000005.10:g.157393224del, NC_000005.10:g.157393224dup, NC_000005.10:g.157393223_157393224dup, NC_000005.10:g.157393222_157393224dup, NC_000005.10:g.157393221_157393224dup, NC_000005.10:g.157393220_157393224dup, NC_000005.10:g.157393216_157393224dup, NC_000005.9:g.156820227_156820232del, NC_000005.9:g.156820228_156820232del, NC_000005.9:g.156820229_156820232del, NC_000005.9:g.156820230_156820232del, NC_000005.9:g.156820231_156820232del, NC_000005.9:g.156820232del, NC_000005.9:g.156820232dup, NC_000005.9:g.156820231_156820232dup, NC_000005.9:g.156820230_156820232dup, NC_000005.9:g.156820229_156820232dup, NC_000005.9:g.156820228_156820232dup, NC_000005.9:g.156820224_156820232dup, XM_011534516.4:c.*219_*224del, XM_011534516.4:c.*220_*224del, XM_011534516.4:c.*221_*224del, XM_011534516.4:c.*222_*224del, XM_011534516.4:c.*223_*224del, XM_011534516.4:c.*224del, XM_011534516.4:c.*224dup, XM_011534516.4:c.*223_*224dup, XM_011534516.4:c.*222_*224dup, XM_011534516.4:c.*221_*224dup, XM_011534516.4:c.*220_*224dup, XM_011534516.4:c.*216_*224dup, XM_011534516.3:c.*219_*224del, XM_011534516.3:c.*220_*224del, XM_011534516.3:c.*221_*224del, XM_011534516.3:c.*222_*224del, XM_011534516.3:c.*223_*224del, XM_011534516.3:c.*224del, XM_011534516.3:c.*224dup, XM_011534516.3:c.*223_*224dup, XM_011534516.3:c.*222_*224dup, XM_011534516.3:c.*221_*224dup, XM_011534516.3:c.*220_*224dup, XM_011534516.3:c.*216_*224dup, XM_011534516.2:c.*219_*224del, XM_011534516.2:c.*220_*224del, XM_011534516.2:c.*221_*224del, XM_011534516.2:c.*222_*224del, XM_011534516.2:c.*223_*224del, XM_011534516.2:c.*224del, XM_011534516.2:c.*224dup, XM_011534516.2:c.*223_*224dup, XM_011534516.2:c.*222_*224dup, XM_011534516.2:c.*221_*224dup, XM_011534516.2:c.*220_*224dup, XM_011534516.2:c.*216_*224dup, XM_011534516.1:c.*219_*224del, XM_011534516.1:c.*220_*224del, XM_011534516.1:c.*221_*224del, XM_011534516.1:c.*222_*224del, XM_011534516.1:c.*223_*224del, XM_011534516.1:c.*224del, XM_011534516.1:c.*224dup, XM_011534516.1:c.*223_*224dup, XM_011534516.1:c.*222_*224dup, XM_011534516.1:c.*221_*224dup, XM_011534516.1:c.*220_*224dup, XM_011534516.1:c.*216_*224dup, NM_014376.4:c.*219_*224del, NM_014376.4:c.*220_*224del, NM_014376.4:c.*221_*224del, NM_014376.4:c.*222_*224del, NM_014376.4:c.*223_*224del, NM_014376.4:c.*224del, NM_014376.4:c.*224dup, NM_014376.4:c.*223_*224dup, NM_014376.4:c.*222_*224dup, NM_014376.4:c.*221_*224dup, NM_014376.4:c.*220_*224dup, NM_014376.4:c.*216_*224dup, NM_014376.3:c.*219_*224del, NM_014376.3:c.*220_*224del, NM_014376.3:c.*221_*224del, NM_014376.3:c.*222_*224del, NM_014376.3:c.*223_*224del, NM_014376.3:c.*224del, NM_014376.3:c.*224dup, NM_014376.3:c.*223_*224dup, NM_014376.3:c.*222_*224dup, NM_014376.3:c.*221_*224dup, NM_014376.3:c.*220_*224dup, NM_014376.3:c.*216_*224dup, NM_014376.2:c.*219_*224del, NM_014376.2:c.*220_*224del, NM_014376.2:c.*221_*224del, NM_014376.2:c.*222_*224del, NM_014376.2:c.*223_*224del, NM_014376.2:c.*224del, NM_014376.2:c.*224dup, NM_014376.2:c.*223_*224dup, NM_014376.2:c.*222_*224dup, NM_014376.2:c.*221_*224dup, NM_014376.2:c.*220_*224dup, NM_014376.2:c.*216_*224dup, NM_001037333.3:c.*219_*224del, NM_001037333.3:c.*220_*224del, NM_001037333.3:c.*221_*224del, NM_001037333.3:c.*222_*224del, NM_001037333.3:c.*223_*224del, NM_001037333.3:c.*224del, NM_001037333.3:c.*224dup, NM_001037333.3:c.*223_*224dup, NM_001037333.3:c.*222_*224dup, NM_001037333.3:c.*221_*224dup, NM_001037333.3:c.*220_*224dup, NM_001037333.3:c.*216_*224dup, NM_001037333.2:c.*219_*224del, NM_001037333.2:c.*220_*224del, NM_001037333.2:c.*221_*224del, NM_001037333.2:c.*222_*224del, NM_001037333.2:c.*223_*224del, NM_001037333.2:c.*224del, NM_001037333.2:c.*224dup, NM_001037333.2:c.*223_*224dup, NM_001037333.2:c.*222_*224dup, NM_001037333.2:c.*221_*224dup, NM_001037333.2:c.*220_*224dup, NM_001037333.2:c.*216_*224dup, NM_001037333.1:c.*219_*224del, NM_001037333.1:c.*220_*224del, NM_001037333.1:c.*221_*224del, NM_001037333.1:c.*222_*224del, NM_001037333.1:c.*223_*224del, NM_001037333.1:c.*224del, NM_001037333.1:c.*224dup, NM_001037333.1:c.*223_*224dup, NM_001037333.1:c.*222_*224dup, NM_001037333.1:c.*221_*224dup, NM_001037333.1:c.*220_*224dup, NM_001037333.1:c.*216_*224dup, NM_001037332.2:c.*219_*224del, NM_001037332.2:c.*220_*224del, NM_001037332.2:c.*221_*224del, NM_001037332.2:c.*222_*224del, NM_001037332.2:c.*223_*224del, NM_001037332.2:c.*224del, NM_001037332.2:c.*224dup, NM_001037332.2:c.*223_*224dup, NM_001037332.2:c.*222_*224dup, NM_001037332.2:c.*221_*224dup, NM_001037332.2:c.*220_*224dup, NM_001037332.2:c.*216_*224dup, NM_001291722.2:c.*219_*224del, NM_001291722.2:c.*220_*224del, NM_001291722.2:c.*221_*224del, NM_001291722.2:c.*222_*224del, NM_001291722.2:c.*223_*224del, NM_001291722.2:c.*224del, NM_001291722.2:c.*224dup, NM_001291722.2:c.*223_*224dup, NM_001291722.2:c.*222_*224dup, NM_001291722.2:c.*221_*224dup, NM_001291722.2:c.*220_*224dup, NM_001291722.2:c.*216_*224dup, NM_001291722.1:c.*219_*224del, NM_001291722.1:c.*220_*224del, NM_001291722.1:c.*221_*224del, NM_001291722.1:c.*222_*224del, NM_001291722.1:c.*223_*224del, NM_001291722.1:c.*224del, NM_001291722.1:c.*224dup, NM_001291722.1:c.*223_*224dup, NM_001291722.1:c.*222_*224dup, NM_001291722.1:c.*221_*224dup, NM_001291722.1:c.*220_*224dup, NM_001291722.1:c.*216_*224dup, NM_001291721.2:c.*219_*224del, NM_001291721.2:c.*220_*224del, NM_001291721.2:c.*221_*224del, NM_001291721.2:c.*222_*224del, NM_001291721.2:c.*223_*224del, NM_001291721.2:c.*224del, NM_001291721.2:c.*224dup, NM_001291721.2:c.*223_*224dup, NM_001291721.2:c.*222_*224dup, NM_001291721.2:c.*221_*224dup, NM_001291721.2:c.*220_*224dup, NM_001291721.2:c.*216_*224dup, NM_001291721.1:c.*219_*224del, NM_001291721.1:c.*220_*224del, NM_001291721.1:c.*221_*224del, NM_001291721.1:c.*222_*224del, NM_001291721.1:c.*223_*224del, NM_001291721.1:c.*224del, NM_001291721.1:c.*224dup, NM_001291721.1:c.*223_*224dup, NM_001291721.1:c.*222_*224dup, NM_001291721.1:c.*221_*224dup, NM_001291721.1:c.*220_*224dup, NM_001291721.1:c.*216_*224dup, XM_047417100.1:c.*219_*224del, XM_047417100.1:c.*220_*224del, XM_047417100.1:c.*221_*224del, XM_047417100.1:c.*222_*224del, XM_047417100.1:c.*223_*224del, XM_047417100.1:c.*224del, XM_047417100.1:c.*224dup, XM_047417100.1:c.*223_*224dup, XM_047417100.1:c.*222_*224dup, XM_047417100.1:c.*221_*224dup, XM_047417100.1:c.*220_*224dup, XM_047417100.1:c.*216_*224dup, XM_047417101.1:c.*219_*224del, XM_047417101.1:c.*220_*224del, XM_047417101.1:c.*221_*224del, XM_047417101.1:c.*222_*224del, XM_047417101.1:c.*223_*224del, XM_047417101.1:c.*224del, XM_047417101.1:c.*224dup, XM_047417101.1:c.*223_*224dup, XM_047417101.1:c.*222_*224dup, XM_047417101.1:c.*221_*224dup, XM_047417101.1:c.*220_*224dup, XM_047417101.1:c.*216_*224dup, XM_047417102.1:c.*219_*224del, XM_047417102.1:c.*220_*224del, XM_047417102.1:c.*221_*224del, XM_047417102.1:c.*222_*224del, XM_047417102.1:c.*223_*224del, XM_047417102.1:c.*224del, XM_047417102.1:c.*224dup, XM_047417102.1:c.*223_*224dup, XM_047417102.1:c.*222_*224dup, XM_047417102.1:c.*221_*224dup, XM_047417102.1:c.*220_*224dup, XM_047417102.1:c.*216_*224dup

Select item 14915514544.

rs1491551454 [Homo sapiens]

Variant type:: SNV:
Alleles:: TC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915449265.

rs1491544926 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:157327564 (GRCh38)
5:156754572 (GRCh37)
Canonical SPDI:: NC_000005.10:157327563:CA:
Gene:: CYFIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.157327564_157327565del, NC_000005.9:g.156754572_156754573del

Select item 14915340966.

rs1491534096 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 5:157379668 (GRCh38)
5:156806677 (GRCh37)
Canonical SPDI:: NC_000005.10:157379668::CAA
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAA=0./0 (ALFA)
CAA=0.00003/2 (GnomAD)
HGVS:: NC_000005.10:g.157379668_157379669insCAA, NC_000005.9:g.156806676_156806677insCAA

Select item 14915203837.

rs1491520383 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:157379668 (GRCh38)
5:156806676 (GRCh37)
Canonical SPDI:: NC_000005.10:157379667:CA:
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00081/19 (TOMMO)
HGVS:: NC_000005.10:g.157379668_157379669del, NC_000005.9:g.156806676_156806677del

Select item 14915088058.

rs1491508805 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:157369898 (GRCh38)
5:156796906 (GRCh37)
Canonical SPDI:: NC_000005.10:157369897:TA:
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157369898_157369899del, NC_000005.9:g.156796906_156796907del

Select item 14914974499.

rs1491497449 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:157384939 (GRCh38)
5:156811947 (GRCh37)
Canonical SPDI:: NC_000005.10:157384938:CA:
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.157384939_157384940del, NC_000005.9:g.156811947_156811948del

Select item 149144464310.

rs1491444643 has merged into rs34300898 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 5:157327577 (GRCh38)
5:156754585 (GRCh37)
Canonical SPDI:: NC_000005.10:157327564:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157327564:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157327564:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157327564:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CYFIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.21309/127 (NorthernSweden)
HGVS:: NC_000005.10:g.157327577_157327578del, NC_000005.10:g.157327578del, NC_000005.10:g.157327578dup, NC_000005.10:g.157327577_157327578dup, NC_000005.9:g.156754585_156754586del, NC_000005.9:g.156754586del, NC_000005.9:g.156754586dup, NC_000005.9:g.156754585_156754586dup

Select item 149142104711.

rs1491421047 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTA [Show Flanks]
Chromosome:: 5:157293057 (GRCh38)
5:156720067 (GRCh37)
Canonical SPDI:: NC_000005.10:157293057:GTA:GTACGTA
Gene:: CYFIP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTACGTA=0.000084/1 (ALFA)
GTAC=0.000079/11 (GnomAD)
HGVS:: NC_000005.10:g.157293060_157293061insCGTA, NC_000005.9:g.156720069_156720070insCGTA

Select item 149137987812.

rs1491379878 has merged into rs1554118658 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCATGTGTGTGCGTGTGTGTGT>-,GCATGTGTGTGCGTGTGTGTGTGCATGTGTGTGCGTGTGTGTGT [Show Flanks]
Chromosome:: 5:157361237 (GRCh38)
5:156788245 (GRCh37)
Canonical SPDI:: NC_000005.10:157361226:GTGTGTGTGTGCATGTGTGTGCGTGTGTGTGT:GTGTGTGTGT,NC_000005.10:157361226:GTGTGTGTGTGCATGTGTGTGCGTGTGTGTGT:GTGTGTGTGTGCATGTGTGTGCGTGTGTGTGTGCATGTGTGTGCGTGTGTGTGT
Gene:: CYFIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGCATGTGTGTGCGTGTGTGTGTGCATGTGTGTGCGTGTGTGTGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
GTGTGTGTGTGCATGTGTGTGC=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.157361237_157361258del, NC_000005.10:g.157361237_157361258dup, NC_000005.9:g.156788245_156788266del, NC_000005.9:g.156788245_156788266dup

Select item 149137748613.

rs1491377486 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 5:157330286 (GRCh38)
5:156757294 (GRCh37)
Canonical SPDI:: NC_000005.10:157330284:TTT:T,NC_000005.10:157330284:TTT:TT
Gene:: CYFIP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.157330286_157330287del, NC_000005.10:g.157330287del, NC_000005.9:g.156757294_156757295del, NC_000005.9:g.156757295del

Select item 149136306614.

rs1491363066 has merged into rs926942944 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGTGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 5:157364207 (GRCh38)
5:156791215 (GRCh37)
Canonical SPDI:: NC_000005.10:157364204:GGGGGGGGG:GG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000005.10:157364204:GGGGGGGGG:GGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGG
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.375/3 (KOREAN)
HGVS:: NC_000005.10:g.157364207_157364213del, NC_000005.10:g.157364212_157364213del, NC_000005.10:g.157364213del, NC_000005.10:g.157364213dup, NC_000005.10:g.157364212_157364213dup, NC_000005.10:g.157364210_157364213dup, NC_000005.10:g.157364209_157364213dup, NC_000005.10:g.157364213_157364214insGGGGGGGGGGGGG, NC_000005.10:g.157364213_157364214insGGGGGGGGGGGGGGGGGG, NC_000005.10:g.157364213_157364214insGGGGGGGGGGGGGGGGGGGG, NC_000005.10:g.157364213_157364214insGGGGGGGGGGGGGGGGGGGGGG, NC_000005.10:g.157364213_157364214insGGGGGGGGGGGGGGGGGGGGGGG, NC_000005.10:g.157364213_157364214insGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000005.10:g.157364205_157364213G[18]TGGGGGGGGGGGGG[1], NC_000005.9:g.156791215_156791221del, NC_000005.9:g.156791220_156791221del, NC_000005.9:g.156791221del, NC_000005.9:g.156791221dup, NC_000005.9:g.156791220_156791221dup, NC_000005.9:g.156791218_156791221dup, NC_000005.9:g.156791217_156791221dup, NC_000005.9:g.156791221_156791222insGGGGGGGGGGGGG, NC_000005.9:g.156791221_156791222insGGGGGGGGGGGGGGGGGG, NC_000005.9:g.156791221_156791222insGGGGGGGGGGGGGGGGGGGG, NC_000005.9:g.156791221_156791222insGGGGGGGGGGGGGGGGGGGGGG, NC_000005.9:g.156791221_156791222insGGGGGGGGGGGGGGGGGGGGGGG, NC_000005.9:g.156791221_156791222insGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000005.9:g.156791213_156791221G[18]TGGGGGGGGGGGGG[1]

Select item 149135810515.

rs1491358105 has merged into rs11380239 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 5:157381375 (GRCh38)
5:156808383 (GRCh37)
Canonical SPDI:: NC_000005.10:157381362:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157381362:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157381362:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157381362:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157381362:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:157381362:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3287/1646 (1000Genomes)
HGVS:: NC_000005.10:g.157381375_157381377del, NC_000005.10:g.157381376_157381377del, NC_000005.10:g.157381377del, NC_000005.10:g.157381377dup, NC_000005.10:g.157381376_157381377dup, NC_000005.10:g.157381375_157381377dup, NC_000005.9:g.156808383_156808385del, NC_000005.9:g.156808384_156808385del, NC_000005.9:g.156808385del, NC_000005.9:g.156808385dup, NC_000005.9:g.156808384_156808385dup, NC_000005.9:g.156808383_156808385dup

Select item 149130762116.

rs1491307621 has merged into rs34749971 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:157384947 (GRCh38)
5:156811955 (GRCh37)
Canonical SPDI:: NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.157384947_157384963del, NC_000005.10:g.157384951_157384963del, NC_000005.10:g.157384952_157384963del, NC_000005.10:g.157384953_157384963del, NC_000005.10:g.157384954_157384963del, NC_000005.10:g.157384955_157384963del, NC_000005.10:g.157384957_157384963del, NC_000005.10:g.157384959_157384963del, NC_000005.10:g.157384960_157384963del, NC_000005.10:g.157384961_157384963del, NC_000005.10:g.157384962_157384963del, NC_000005.10:g.157384963del, NC_000005.10:g.157384963dup, NC_000005.10:g.157384962_157384963dup, NC_000005.10:g.157384961_157384963dup, NC_000005.10:g.157384960_157384963dup, NC_000005.10:g.157384959_157384963dup, NC_000005.10:g.157384958_157384963dup, NC_000005.10:g.157384957_157384963dup, NC_000005.10:g.157384956_157384963dup, NC_000005.10:g.157384955_157384963dup, NC_000005.10:g.157384954_157384963dup, NC_000005.10:g.157384953_157384963dup, NC_000005.10:g.157384952_157384963dup, NC_000005.10:g.157384947_157384963dup, NC_000005.10:g.157384940_157384963dup, NC_000005.9:g.156811955_156811971del, NC_000005.9:g.156811959_156811971del, NC_000005.9:g.156811960_156811971del, NC_000005.9:g.156811961_156811971del, NC_000005.9:g.156811962_156811971del, NC_000005.9:g.156811963_156811971del, NC_000005.9:g.156811965_156811971del, NC_000005.9:g.156811967_156811971del, NC_000005.9:g.156811968_156811971del, NC_000005.9:g.156811969_156811971del, NC_000005.9:g.156811970_156811971del, NC_000005.9:g.156811971del, NC_000005.9:g.156811971dup, NC_000005.9:g.156811970_156811971dup, NC_000005.9:g.156811969_156811971dup, NC_000005.9:g.156811968_156811971dup, NC_000005.9:g.156811967_156811971dup, NC_000005.9:g.156811966_156811971dup, NC_000005.9:g.156811965_156811971dup, NC_000005.9:g.156811964_156811971dup, NC_000005.9:g.156811963_156811971dup, NC_000005.9:g.156811962_156811971dup, NC_000005.9:g.156811961_156811971dup, NC_000005.9:g.156811960_156811971dup, NC_000005.9:g.156811955_156811971dup, NC_000005.9:g.156811948_156811971dup

Select item 149129675217.

rs1491296752 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 5:157364205 (GRCh38)
5:156791214 (GRCh37)
Canonical SPDI:: NC_000005.10:157364205:G:GCG
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000005.10:g.157364206_157364207insCG, NC_000005.9:g.156791214_156791215insCG

Select item 149127975818.

rs1491279758 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:157293058 (GRCh38)
5:156720067 (GRCh37)
Canonical SPDI:: NC_000005.10:157293056:TGT:T
Gene:: CYFIP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000132/18 (GnomAD)
HGVS:: NC_000005.10:g.157293058_157293059del, NC_000005.9:g.156720067_156720068del

Select item 149122134219.

rs1491221342 has merged into rs3052310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:157393219 (GRCh38)
5:156820227 (GRCh37)
Canonical SPDI:: NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157393207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0493/190 (ALSPAC)
-=0.3335/1670 (1000Genomes)
HGVS:: NC_000005.10:g.157393219_157393224del, NC_000005.10:g.157393220_157393224del, NC_000005.10:g.157393221_157393224del, NC_000005.10:g.157393222_157393224del, NC_000005.10:g.157393223_157393224del, NC_000005.10:g.157393224del, NC_000005.10:g.157393224dup, NC_000005.10:g.157393223_157393224dup, NC_000005.10:g.157393222_157393224dup, NC_000005.10:g.157393221_157393224dup, NC_000005.10:g.157393220_157393224dup, NC_000005.10:g.157393216_157393224dup, NC_000005.9:g.156820227_156820232del, NC_000005.9:g.156820228_156820232del, NC_000005.9:g.156820229_156820232del, NC_000005.9:g.156820230_156820232del, NC_000005.9:g.156820231_156820232del, NC_000005.9:g.156820232del, NC_000005.9:g.156820232dup, NC_000005.9:g.156820231_156820232dup, NC_000005.9:g.156820230_156820232dup, NC_000005.9:g.156820229_156820232dup, NC_000005.9:g.156820228_156820232dup, NC_000005.9:g.156820224_156820232dup, XM_011534516.4:c.*219_*224del, XM_011534516.4:c.*220_*224del, XM_011534516.4:c.*221_*224del, XM_011534516.4:c.*222_*224del, XM_011534516.4:c.*223_*224del, XM_011534516.4:c.*224del, XM_011534516.4:c.*224dup, XM_011534516.4:c.*223_*224dup, XM_011534516.4:c.*222_*224dup, XM_011534516.4:c.*221_*224dup, XM_011534516.4:c.*220_*224dup, XM_011534516.4:c.*216_*224dup, XM_011534516.3:c.*219_*224del, XM_011534516.3:c.*220_*224del, XM_011534516.3:c.*221_*224del, XM_011534516.3:c.*222_*224del, XM_011534516.3:c.*223_*224del, XM_011534516.3:c.*224del, XM_011534516.3:c.*224dup, XM_011534516.3:c.*223_*224dup, XM_011534516.3:c.*222_*224dup, XM_011534516.3:c.*221_*224dup, XM_011534516.3:c.*220_*224dup, XM_011534516.3:c.*216_*224dup, XM_011534516.2:c.*219_*224del, XM_011534516.2:c.*220_*224del, XM_011534516.2:c.*221_*224del, XM_011534516.2:c.*222_*224del, XM_011534516.2:c.*223_*224del, XM_011534516.2:c.*224del, XM_011534516.2:c.*224dup, XM_011534516.2:c.*223_*224dup, XM_011534516.2:c.*222_*224dup, XM_011534516.2:c.*221_*224dup, XM_011534516.2:c.*220_*224dup, XM_011534516.2:c.*216_*224dup, XM_011534516.1:c.*219_*224del, XM_011534516.1:c.*220_*224del, XM_011534516.1:c.*221_*224del, XM_011534516.1:c.*222_*224del, XM_011534516.1:c.*223_*224del, XM_011534516.1:c.*224del, XM_011534516.1:c.*224dup, XM_011534516.1:c.*223_*224dup, XM_011534516.1:c.*222_*224dup, XM_011534516.1:c.*221_*224dup, XM_011534516.1:c.*220_*224dup, XM_011534516.1:c.*216_*224dup, NM_014376.4:c.*219_*224del, NM_014376.4:c.*220_*224del, NM_014376.4:c.*221_*224del, NM_014376.4:c.*222_*224del, NM_014376.4:c.*223_*224del, NM_014376.4:c.*224del, NM_014376.4:c.*224dup, NM_014376.4:c.*223_*224dup, NM_014376.4:c.*222_*224dup, NM_014376.4:c.*221_*224dup, NM_014376.4:c.*220_*224dup, NM_014376.4:c.*216_*224dup, NM_014376.3:c.*219_*224del, NM_014376.3:c.*220_*224del, NM_014376.3:c.*221_*224del, NM_014376.3:c.*222_*224del, NM_014376.3:c.*223_*224del, NM_014376.3:c.*224del, NM_014376.3:c.*224dup, NM_014376.3:c.*223_*224dup, NM_014376.3:c.*222_*224dup, NM_014376.3:c.*221_*224dup, NM_014376.3:c.*220_*224dup, NM_014376.3:c.*216_*224dup, NM_014376.2:c.*219_*224del, NM_014376.2:c.*220_*224del, NM_014376.2:c.*221_*224del, NM_014376.2:c.*222_*224del, NM_014376.2:c.*223_*224del, NM_014376.2:c.*224del, NM_014376.2:c.*224dup, NM_014376.2:c.*223_*224dup, NM_014376.2:c.*222_*224dup, NM_014376.2:c.*221_*224dup, NM_014376.2:c.*220_*224dup, NM_014376.2:c.*216_*224dup, NM_001037333.3:c.*219_*224del, NM_001037333.3:c.*220_*224del, NM_001037333.3:c.*221_*224del, NM_001037333.3:c.*222_*224del, NM_001037333.3:c.*223_*224del, NM_001037333.3:c.*224del, NM_001037333.3:c.*224dup, NM_001037333.3:c.*223_*224dup, NM_001037333.3:c.*222_*224dup, NM_001037333.3:c.*221_*224dup, NM_001037333.3:c.*220_*224dup, NM_001037333.3:c.*216_*224dup, NM_001037333.2:c.*219_*224del, NM_001037333.2:c.*220_*224del, NM_001037333.2:c.*221_*224del, NM_001037333.2:c.*222_*224del, NM_001037333.2:c.*223_*224del, NM_001037333.2:c.*224del, NM_001037333.2:c.*224dup, NM_001037333.2:c.*223_*224dup, NM_001037333.2:c.*222_*224dup, NM_001037333.2:c.*221_*224dup, NM_001037333.2:c.*220_*224dup, NM_001037333.2:c.*216_*224dup, NM_001037333.1:c.*219_*224del, NM_001037333.1:c.*220_*224del, NM_001037333.1:c.*221_*224del, NM_001037333.1:c.*222_*224del, NM_001037333.1:c.*223_*224del, NM_001037333.1:c.*224del, NM_001037333.1:c.*224dup, NM_001037333.1:c.*223_*224dup, NM_001037333.1:c.*222_*224dup, NM_001037333.1:c.*221_*224dup, NM_001037333.1:c.*220_*224dup, NM_001037333.1:c.*216_*224dup, NM_001037332.2:c.*219_*224del, NM_001037332.2:c.*220_*224del, NM_001037332.2:c.*221_*224del, NM_001037332.2:c.*222_*224del, NM_001037332.2:c.*223_*224del, NM_001037332.2:c.*224del, NM_001037332.2:c.*224dup, NM_001037332.2:c.*223_*224dup, NM_001037332.2:c.*222_*224dup, NM_001037332.2:c.*221_*224dup, NM_001037332.2:c.*220_*224dup, NM_001037332.2:c.*216_*224dup, NM_001291722.2:c.*219_*224del, NM_001291722.2:c.*220_*224del, NM_001291722.2:c.*221_*224del, NM_001291722.2:c.*222_*224del, NM_001291722.2:c.*223_*224del, NM_001291722.2:c.*224del, NM_001291722.2:c.*224dup, NM_001291722.2:c.*223_*224dup, NM_001291722.2:c.*222_*224dup, NM_001291722.2:c.*221_*224dup, NM_001291722.2:c.*220_*224dup, NM_001291722.2:c.*216_*224dup, NM_001291722.1:c.*219_*224del, NM_001291722.1:c.*220_*224del, NM_001291722.1:c.*221_*224del, NM_001291722.1:c.*222_*224del, NM_001291722.1:c.*223_*224del, NM_001291722.1:c.*224del, NM_001291722.1:c.*224dup, NM_001291722.1:c.*223_*224dup, NM_001291722.1:c.*222_*224dup, NM_001291722.1:c.*221_*224dup, NM_001291722.1:c.*220_*224dup, NM_001291722.1:c.*216_*224dup, NM_001291721.2:c.*219_*224del, NM_001291721.2:c.*220_*224del, NM_001291721.2:c.*221_*224del, NM_001291721.2:c.*222_*224del, NM_001291721.2:c.*223_*224del, NM_001291721.2:c.*224del, NM_001291721.2:c.*224dup, NM_001291721.2:c.*223_*224dup, NM_001291721.2:c.*222_*224dup, NM_001291721.2:c.*221_*224dup, NM_001291721.2:c.*220_*224dup, NM_001291721.2:c.*216_*224dup, NM_001291721.1:c.*219_*224del, NM_001291721.1:c.*220_*224del, NM_001291721.1:c.*221_*224del, NM_001291721.1:c.*222_*224del, NM_001291721.1:c.*223_*224del, NM_001291721.1:c.*224del, NM_001291721.1:c.*224dup, NM_001291721.1:c.*223_*224dup, NM_001291721.1:c.*222_*224dup, NM_001291721.1:c.*221_*224dup, NM_001291721.1:c.*220_*224dup, NM_001291721.1:c.*216_*224dup, XM_047417100.1:c.*219_*224del, XM_047417100.1:c.*220_*224del, XM_047417100.1:c.*221_*224del, XM_047417100.1:c.*222_*224del, XM_047417100.1:c.*223_*224del, XM_047417100.1:c.*224del, XM_047417100.1:c.*224dup, XM_047417100.1:c.*223_*224dup, XM_047417100.1:c.*222_*224dup, XM_047417100.1:c.*221_*224dup, XM_047417100.1:c.*220_*224dup, XM_047417100.1:c.*216_*224dup, XM_047417101.1:c.*219_*224del, XM_047417101.1:c.*220_*224del, XM_047417101.1:c.*221_*224del, XM_047417101.1:c.*222_*224del, XM_047417101.1:c.*223_*224del, XM_047417101.1:c.*224del, XM_047417101.1:c.*224dup, XM_047417101.1:c.*223_*224dup, XM_047417101.1:c.*222_*224dup, XM_047417101.1:c.*221_*224dup, XM_047417101.1:c.*220_*224dup, XM_047417101.1:c.*216_*224dup, XM_047417102.1:c.*219_*224del, XM_047417102.1:c.*220_*224del, XM_047417102.1:c.*221_*224del, XM_047417102.1:c.*222_*224del, XM_047417102.1:c.*223_*224del, XM_047417102.1:c.*224del, XM_047417102.1:c.*224dup, XM_047417102.1:c.*223_*224dup, XM_047417102.1:c.*222_*224dup, XM_047417102.1:c.*221_*224dup, XM_047417102.1:c.*220_*224dup, XM_047417102.1:c.*216_*224dup

Select item 149122131220.

rs1491221312 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:157365788 (GRCh38)
5:156792796 (GRCh37)
Canonical SPDI:: NC_000005.10:157365785:CTCT:CT
Gene:: CYFIP2 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000045/12 (TOPMED)
-=0.000078/3 (GnomAD)
-=0.000425/7 (TOMMO)
HGVS:: NC_000005.10:g.157365786CT[1], NC_000005.9:g.156792794CT[1]

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