SNP Links for Gene (Select 57624) - SNP

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Select item 14915879411.

rs1491587941 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:225426151 (GRCh38)
2:226290867 (GRCh37)
Canonical SPDI:: NC_000002.12:225426150:TA:
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000304/42 (GnomAD)
HGVS:: NC_000002.12:g.225426151_225426152del, NC_000002.11:g.226290867_226290868del

Select item 14915807662.

rs1491580766 has merged into rs11372243 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 2:225505020 (GRCh38)
2:226369736 (GRCh37)
Canonical SPDI:: NC_000002.12:225505008:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:225505008:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:225505008:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:225505008:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:225505008:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:225505008:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:225505008:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.21701/125 (NorthernSweden)
-=0.34605/1733 (1000Genomes)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000002.12:g.225505020_225505021del, NC_000002.12:g.225505021del, NC_000002.12:g.225505021dup, NC_000002.12:g.225505020_225505021dup, NC_000002.12:g.225505019_225505021dup, NC_000002.12:g.225505018_225505021dup, NC_000002.12:g.225505016_225505021dup, NC_000002.11:g.226369736_226369737del, NC_000002.11:g.226369737del, NC_000002.11:g.226369737dup, NC_000002.11:g.226369736_226369737dup, NC_000002.11:g.226369735_226369737dup, NC_000002.11:g.226369734_226369737dup, NC_000002.11:g.226369732_226369737dup

Select item 14915727383.

rs1491572738 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:225641421 (GRCh38)
2:226506138 (GRCh37)
Canonical SPDI:: NC_000002.12:225641421::C
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00022/1 (ALFA)
C=0.00007/5 (GnomAD)
HGVS:: NC_000002.12:g.225641421_225641422insC, NC_000002.11:g.226506137_226506138insC

Select item 14915677984.

rs1491567798 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 2:225512849 (GRCh38)
2:226377565 (GRCh37)
Canonical SPDI:: NC_000002.12:225512847:TCT:T,NC_000002.12:225512847:TCT:TCTCT
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.225512849_225512850del, NC_000002.12:g.225512849_225512850dup, NC_000002.11:g.226377565_226377566del, NC_000002.11:g.226377565_226377566dup

Select item 14915457985.

rs1491545798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:225597513 (GRCh38)
2:226462230 (GRCh37)
Canonical SPDI:: NC_000002.12:225597513:T:TT
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000002.12:g.225597514dup, NC_000002.11:g.226462230dup

Select item 14915404226.

rs1491540422 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:225547965 (GRCh38)
2:226412681 (GRCh37)
Canonical SPDI:: NC_000002.12:225547963:ACA:A
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.225547965_225547966del, NC_000002.11:g.226412681_226412682del

Select item 14915398167.

rs1491539816 has merged into rs35570419 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:225621128 (GRCh38)
2:226485844 (GRCh37)
Canonical SPDI:: NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225621112:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3712/1859 (1000Genomes)
HGVS:: NC_000002.12:g.225621128_225621133del, NC_000002.12:g.225621129_225621133del, NC_000002.12:g.225621130_225621133del, NC_000002.12:g.225621131_225621133del, NC_000002.12:g.225621132_225621133del, NC_000002.12:g.225621133del, NC_000002.12:g.225621133dup, NC_000002.12:g.225621132_225621133dup, NC_000002.12:g.225621131_225621133dup, NC_000002.12:g.225621130_225621133dup, NC_000002.11:g.226485844_226485849del, NC_000002.11:g.226485845_226485849del, NC_000002.11:g.226485846_226485849del, NC_000002.11:g.226485847_226485849del, NC_000002.11:g.226485848_226485849del, NC_000002.11:g.226485849del, NC_000002.11:g.226485849dup, NC_000002.11:g.226485848_226485849dup, NC_000002.11:g.226485847_226485849dup, NC_000002.11:g.226485846_226485849dup

Select item 14915001028.

rs1491500102 has merged into rs570055512 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:225668968 (GRCh38)
2:226533684 (GRCh37)
Canonical SPDI:: NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:225668956:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTT=0.3037/1521 (1000Genomes)
HGVS:: NC_000002.12:g.225668968_225668987del, NC_000002.12:g.225668969_225668987del, NC_000002.12:g.225668971_225668987del, NC_000002.12:g.225668972_225668987del, NC_000002.12:g.225668973_225668987del, NC_000002.12:g.225668974_225668987del, NC_000002.12:g.225668975_225668987del, NC_000002.12:g.225668976_225668987del, NC_000002.12:g.225668977_225668987del, NC_000002.12:g.225668978_225668987del, NC_000002.12:g.225668979_225668987del, NC_000002.12:g.225668980_225668987del, NC_000002.12:g.225668981_225668987del, NC_000002.12:g.225668982_225668987del, NC_000002.12:g.225668983_225668987del, NC_000002.12:g.225668984_225668987del, NC_000002.12:g.225668985_225668987del, NC_000002.12:g.225668986_225668987del, NC_000002.12:g.225668987del, NC_000002.12:g.225668987dup, NC_000002.12:g.225668986_225668987dup, NC_000002.12:g.225668985_225668987dup, NC_000002.12:g.225668984_225668987dup, NC_000002.12:g.225668983_225668987dup, NC_000002.12:g.225668982_225668987dup, NC_000002.12:g.225668981_225668987dup, NC_000002.12:g.225668980_225668987dup, NC_000002.12:g.225668979_225668987dup, NC_000002.12:g.225668978_225668987dup, NC_000002.12:g.225668977_225668987dup, NC_000002.12:g.225668976_225668987dup, NC_000002.12:g.225668987_225668988insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.225668987_225668988insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.225668987_225668988insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.226533684_226533703del, NC_000002.11:g.226533685_226533703del, NC_000002.11:g.226533687_226533703del, NC_000002.11:g.226533688_226533703del, NC_000002.11:g.226533689_226533703del, NC_000002.11:g.226533690_226533703del, NC_000002.11:g.226533691_226533703del, NC_000002.11:g.226533692_226533703del, NC_000002.11:g.226533693_226533703del, NC_000002.11:g.226533694_226533703del, NC_000002.11:g.226533695_226533703del, NC_000002.11:g.226533696_226533703del, NC_000002.11:g.226533697_226533703del, NC_000002.11:g.226533698_226533703del, NC_000002.11:g.226533699_226533703del, NC_000002.11:g.226533700_226533703del, NC_000002.11:g.226533701_226533703del, NC_000002.11:g.226533702_226533703del, NC_000002.11:g.226533703del, NC_000002.11:g.226533703dup, NC_000002.11:g.226533702_226533703dup, NC_000002.11:g.226533701_226533703dup, NC_000002.11:g.226533700_226533703dup, NC_000002.11:g.226533699_226533703dup, NC_000002.11:g.226533698_226533703dup, NC_000002.11:g.226533697_226533703dup, NC_000002.11:g.226533696_226533703dup, NC_000002.11:g.226533695_226533703dup, NC_000002.11:g.226533694_226533703dup, NC_000002.11:g.226533693_226533703dup, NC_000002.11:g.226533692_226533703dup, NC_000002.11:g.226533703_226533704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.226533703_226533704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.226533703_226533704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914800419.

rs1491480041 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:225641422 (GRCh38)
2:226506138 (GRCh37)
Canonical SPDI:: NC_000002.12:225641420:AAA:A
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.225641422_225641423del, NC_000002.11:g.226506138_226506139del

Select item 149146264610.

rs1491462646 has merged into rs10713699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:225670614 (GRCh38)
2:226535330 (GRCh37)
Canonical SPDI:: NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:225670605:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NYAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2088/104 (NorthernSweden)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000002.12:g.225670614_225670631del, NC_000002.12:g.225670616_225670631del, NC_000002.12:g.225670617_225670631del, NC_000002.12:g.225670621_225670631del, NC_000002.12:g.225670626_225670631del, NC_000002.12:g.225670628_225670631del, NC_000002.12:g.225670629_225670631del, NC_000002.12:g.225670630_225670631del, NC_000002.12:g.225670631del, NC_000002.12:g.225670631dup, NC_000002.12:g.225670630_225670631dup, NC_000002.11:g.226535330_226535347del, NC_000002.11:g.226535332_226535347del, NC_000002.11:g.226535333_226535347del, NC_000002.11:g.226535337_226535347del, NC_000002.11:g.226535342_226535347del, NC_000002.11:g.226535344_226535347del, NC_000002.11:g.226535345_226535347del, NC_000002.11:g.226535346_226535347del, NC_000002.11:g.226535347del, NC_000002.11:g.226535347dup, NC_000002.11:g.226535346_226535347dup

Select item 149145985211.

rs1491459852 has merged into rs542466098 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:225641470 (GRCh38)
2:226506186 (GRCh37)
Canonical SPDI:: NC_000002.12:225641468:AAA:A
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.225641470_225641471del, NC_000002.11:g.226506186_226506187del

Select item 149145623112.

rs1491456231 has merged into rs757867358 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 2:225512839 (GRCh38)
2:226377555 (GRCh37)
Canonical SPDI:: NC_000002.12:225512837:TTT:T,NC_000002.12:225512837:TTT:TTTTT
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.05716/929 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.05574/33 (NorthernSweden)
-=0.07995/5220 (GnomAD)
-=0.1888/3133 (TOMMO)
-=0.20352/370 (Korea1K)
HGVS:: NC_000002.12:g.225512839_225512840del, NC_000002.12:g.225512839_225512840dup, NC_000002.11:g.226377555_226377556del, NC_000002.11:g.226377555_226377556dup

Select item 149144874213.

rs1491448742 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:225622517 (GRCh38)
2:226487234 (GRCh37)
Canonical SPDI:: NC_000002.12:225622517:C:CC
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000002.12:g.225622518dup, NC_000002.11:g.226487234dup

Select item 149144361614.

rs1491443616 has merged into rs10595085 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:225577814 (GRCh38)
2:226442530 (GRCh37)
Canonical SPDI:: NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:225577806:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.0337/130 (ALSPAC)
T=0.0348/129 (TWINSUK)
T=0.075/3 (GENOME_DK)
T=0.0808/48 (NorthernSweden)
T=0.105/526 (1000Genomes)
HGVS:: NC_000002.12:g.225577814_225577821del, NC_000002.12:g.225577816_225577821del, NC_000002.12:g.225577819_225577821del, NC_000002.12:g.225577820_225577821del, NC_000002.12:g.225577821del, NC_000002.12:g.225577821dup, NC_000002.12:g.225577820_225577821dup, NC_000002.12:g.225577811_225577821dup, NC_000002.11:g.226442530_226442537del, NC_000002.11:g.226442532_226442537del, NC_000002.11:g.226442535_226442537del, NC_000002.11:g.226442536_226442537del, NC_000002.11:g.226442537del, NC_000002.11:g.226442537dup, NC_000002.11:g.226442536_226442537dup, NC_000002.11:g.226442527_226442537dup

Select item 149143908015.

rs1491439080 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTT,CCTTCCTT [Show Flanks]
Chromosome:: 2:225512848 (GRCh38)
2:226377565 (GRCh37)
Canonical SPDI:: NC_000002.12:225512848:CTT:CTTCCTT,NC_000002.12:225512848:CTT:CTTCCTTCCTT
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTCCTTCCTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.225512851_225512852insCCTT, NC_000002.12:g.225512851_225512852insCCTTCCTT, NC_000002.11:g.226377567_226377568insCCTT, NC_000002.11:g.226377567_226377568insCCTTCCTT

Select item 149143450216.

rs1491434502 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGAAATACATATGCATGAAATACAATG [Show Flanks]
Chromosome:: 2:225547964 (GRCh38)
2:226412681 (GRCh37)
Canonical SPDI:: NC_000002.12:225547964::TGAAATACATATGCATGAAATACAATG
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGAAATACATATGCATGAAATACAATG=0./0 (ALFA)
TGAAATACATATGCATGAAATACAATG=0.000007/1 (GnomAD)
TGAAATACATATGCATGAAATACAATG=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.225547964_225547965insTGAAATACATATGCATGAAATACAATG, NC_000002.11:g.226412680_226412681insTGAAATACATATGCATGAAATACAATG

Select item 149142842917.

rs1491428429 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:225400392 (GRCh38)
2:226265108 (GRCh37)
Canonical SPDI:: NC_000002.12:225400391:TG:
Gene:: NYAP2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.225400392_225400393del, NC_000002.11:g.226265108_226265109del

Select item 149142163918.

rs1491421639 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:225622545 (GRCh38)
2:226487261 (GRCh37)
Canonical SPDI:: NC_000002.12:225622543:TCT:T
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.225622545_225622546del, NC_000002.11:g.226487261_226487262del

Select item 149139317619.

rs1491393176 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:225641469 (GRCh38)
2:226506186 (GRCh37)
Canonical SPDI:: NC_000002.12:225641469::C
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.003356/15 (ALFA)
C=0.000545/63 (GnomAD)
HGVS:: NC_000002.12:g.225641469_225641470insC, NC_000002.11:g.226506185_226506186insC

Select item 149139187320.

rs1491391873 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:225566913 (GRCh38)
2:226431630 (GRCh37)
Canonical SPDI:: NC_000002.12:225566913:T:TGT
Gene:: NYAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000007/1 (GnomAD)
TG=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.225566914_225566915insGT, NC_000002.11:g.226431630_226431631insGT

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