SNP Links for Gene (Select 23263) - SNP

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Select item 14915802881.

rs1491580288 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC [Show Flanks]
Chromosome:: 13:113055370 (GRCh38)
13:113709685 (GRCh37)
Canonical SPDI:: NC_000013.11:113055370:C:CAC,NC_000013.11:113055370:C:CGC
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000013.11:g.113055371_113055372insAC, NC_000013.11:g.113055371_113055372insGC, NC_000013.10:g.113709685_113709686insAC, NC_000013.10:g.113709685_113709686insGC

Select item 14915650482.

rs1491565048 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTG>-,AGTGAGTG [Show Flanks]
Chromosome:: 13:113050281 (GRCh38)
13:113704595 (GRCh37)
Canonical SPDI:: NC_000013.11:113050277:GTGAGTG:GTG,NC_000013.11:113050277:GTGAGTG:GTGAGTGAGTG
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGAGTGAGTG=0./0 (ALFA)
GTGA=0.000019/5 (TOPMED)
GTGA=0.000652/4 (GnomAD)
HGVS:: NC_000013.11:g.113050281_113050284del, NC_000013.11:g.113050281_113050284dup, NC_000013.10:g.113704595_113704598del, NC_000013.10:g.113704595_113704598dup

Select item 14915515243.

rs1491551524 has merged into rs757286592 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 13:112968152 (GRCh38)
13:113622466 (GRCh37)
Canonical SPDI:: NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGG,NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGGG,NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000013.11:112968142:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: MCF2L (Varview), MCF2L-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000013.11:g.112968152_112968153del, NC_000013.11:g.112968153del, NC_000013.11:g.112968153dup, NC_000013.11:g.112968152_112968153dup, NC_000013.11:g.112968151_112968153dup, NC_000013.11:g.112968150_112968153dup, NC_000013.11:g.112968149_112968153dup, NC_000013.11:g.112968148_112968153dup, NC_000013.10:g.113622466_113622467del, NC_000013.10:g.113622467del, NC_000013.10:g.113622467dup, NC_000013.10:g.113622466_113622467dup, NC_000013.10:g.113622465_113622467dup, NC_000013.10:g.113622464_113622467dup, NC_000013.10:g.113622463_113622467dup, NC_000013.10:g.113622462_113622467dup, NR_034002.1:n.495_496del, NR_034002.1:n.496del, NR_034002.1:n.496dup, NR_034002.1:n.495_496dup, NR_034002.1:n.494_496dup, NR_034002.1:n.493_496dup, NR_034002.1:n.492_496dup, NR_034002.1:n.491_496dup, NM_025266.1:c.-138_-137del, NM_025266.1:c.-137del, NM_025266.1:c.-137dup, NM_025266.1:c.-138_-137dup, NM_025266.1:c.-139_-137dup, NM_025266.1:c.-140_-137dup, NM_025266.1:c.-141_-137dup, NM_025266.1:c.-142_-137dup

Select item 14915444944.

rs1491544494 has merged into rs768201208 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 13:113080192 (GRCh38)
13:113734506 (GRCh37)
Canonical SPDI:: NC_000013.11:113080187:GGGGGG:GGGG,NC_000013.11:113080187:GGGGGG:GGGGG
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000255/29 (GnomAD)
-=0.002811/18 (1000Genomes)
-=0.00765/14 (Korea1K)
-=0.009063/151 (TOMMO)
HGVS:: NC_000013.11:g.113080192_113080193del, NC_000013.11:g.113080193del, NC_000013.10:g.113734506_113734507del, NC_000013.10:g.113734507del

Select item 14915384105.

rs1491538410 has merged into rs59638426 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:113038475 (GRCh38)
13:113692789 (GRCh37)
Canonical SPDI:: NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:113038464:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MCF2L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3682/1844 (1000Genomes)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000013.11:g.113038475_113038481del, NC_000013.11:g.113038478_113038481del, NC_000013.11:g.113038479_113038481del, NC_000013.11:g.113038480_113038481del, NC_000013.11:g.113038481del, NC_000013.11:g.113038481dup, NC_000013.11:g.113038480_113038481dup, NC_000013.11:g.113038479_113038481dup, NC_000013.11:g.113038478_113038481dup, NC_000013.11:g.113038474_113038481dup, NC_000013.10:g.113692789_113692795del, NC_000013.10:g.113692792_113692795del, NC_000013.10:g.113692793_113692795del, NC_000013.10:g.113692794_113692795del, NC_000013.10:g.113692795del, NC_000013.10:g.113692795dup, NC_000013.10:g.113692794_113692795dup, NC_000013.10:g.113692793_113692795dup, NC_000013.10:g.113692792_113692795dup, NC_000013.10:g.113692788_113692795dup

Select item 14915255046.

rs1491525504 has merged into rs1555375352 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 13:113050279 (GRCh38)
13:113704593 (GRCh37)
Canonical SPDI:: NC_000013.11:113050276:TGTG:TG,NC_000013.11:113050276:TGTG:TGTGTG,NC_000013.11:113050276:TGTG:TGTGTGTG,NC_000013.11:113050276:TGTG:TGTGTGTGTG
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTG=0./0 (ALFA)
TGTG=0.00018/5 (TOMMO)
TGTG=0.00104/4 (ALSPAC)
TGTG=0.00135/5 (TWINSUK)
HGVS:: NC_000013.11:g.113050277TG[1], NC_000013.11:g.113050277TG[3], NC_000013.11:g.113050277TG[4], NC_000013.11:g.113050277TG[5], NC_000013.10:g.113704591TG[1], NC_000013.10:g.113704591TG[3], NC_000013.10:g.113704591TG[4], NC_000013.10:g.113704591TG[5]

Select item 14915093897.

rs1491509389 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:112948605 (GRCh38)
13:113602919 (GRCh37)
Canonical SPDI:: NC_000013.11:112948601:GAGAG:GAG
Gene:: MCF2L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000013.11:g.112948603AG[1], NC_000013.10:g.113602917AG[1]

Select item 14914895418.

rs1491489541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,CG,TG [Show Flanks]
Chromosome:: 13:112968143 (GRCh38)
13:113622458 (GRCh37)
Canonical SPDI:: NC_000013.11:112968143:G:GAG,NC_000013.11:112968143:G:GCG,NC_000013.11:112968143:G:GTG
Gene:: MCF2L (Varview), MCF2L-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.00375/50 (TOMMO)
GC=0.00707/10 (Korea1K)
HGVS:: NC_000013.11:g.112968144_112968145insAG, NC_000013.11:g.112968144_112968145insCG, NC_000013.11:g.112968144_112968145insTG, NC_000013.10:g.113622458_113622459insAG, NC_000013.10:g.113622458_113622459insCG, NC_000013.10:g.113622458_113622459insTG, NR_034002.1:n.495_496insTC, NR_034002.1:n.495_496insGC, NR_034002.1:n.495_496insAC, NM_025266.1:c.-139_-138insTC, NM_025266.1:c.-139_-138insGC, NM_025266.1:c.-139_-138insAC

Select item 14914826239.

rs1491482623 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAAACAC [Show Flanks]
Chromosome:: 13:112961994 (GRCh38)
13:113616309 (GRCh37)
Canonical SPDI:: NC_000013.11:112961994:ACACACAAACAC:ACACACAAACACACAAACAC
Gene:: MCF2L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACAAACACACAAACAC=0./0 (ALFA)
ACACACAA=0.000007/1 (GnomAD)
ACACACAA=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.112961999_112962006dup, NC_000013.10:g.113616313_113616320dup

Select item 149147527910.

rs1491475279 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 13:113050713 (GRCh38)
13:113705027 (GRCh37)
Canonical SPDI:: NC_000013.11:113050712:GGGGGGG:GGGGGG,NC_000013.11:113050712:GGGGGGG:GGGGGGGG
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000088/1 (TOMMO)
HGVS:: NC_000013.11:g.113050719del, NC_000013.11:g.113050719dup, NC_000013.10:g.113705033del, NC_000013.10:g.113705033dup

Select item 149145888311.

rs1491458883 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCCC,GC,GCC [Show Flanks]
Chromosome:: 13:113055369 (GRCh38)
13:113709684 (GRCh37)
Canonical SPDI:: NC_000013.11:113055369:C:CACCCC,NC_000013.11:113055369:C:CGC,NC_000013.11:113055369:C:CGCC
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCC=0./0 (ALFA)
CG=0.000004/1 (TOPMED)
CACCC=0.000118/1 (GnomAD)
HGVS:: NC_000013.11:g.113055370_113055371insACCCC, NC_000013.11:g.113055370_113055371insGC, NC_000013.11:g.113055370_113055371insGCC, NC_000013.10:g.113709684_113709685insACCCC, NC_000013.10:g.113709684_113709685insGC, NC_000013.10:g.113709684_113709685insGCC

Select item 149144589312.

rs1491445893 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:113050712 (GRCh38)
13:113705026 (GRCh37)
Canonical SPDI:: NC_000013.11:113050711:AG:
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000013.11:g.113050712_113050713del, NC_000013.10:g.113705026_113705027del

Select item 149144206513.

rs1491442065 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:113038464 (GRCh38)
13:113692778 (GRCh37)
Canonical SPDI:: NC_000013.11:113038463:CA:
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.113038464_113038465del, NC_000013.10:g.113692778_113692779del

Select item 149144200114.

rs1491442001 has merged into rs34815677 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:112939981 (GRCh38)
13:113594295 (GRCh37)
Canonical SPDI:: NC_000013.11:112939968:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:112939968:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:112939968:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:112939968:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:112939968:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:112939968:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:112939968:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.11824/70 (NorthernSweden)
A=0.19688/986 (1000Genomes)
A=0.3/12 (GENOME_DK)
HGVS:: NC_000013.11:g.112939981_112939982del, NC_000013.11:g.112939982del, NC_000013.11:g.112939982dup, NC_000013.11:g.112939981_112939982dup, NC_000013.11:g.112939980_112939982dup, NC_000013.11:g.112939974_112939982dup, NC_000013.11:g.112939970_112939982dup, NC_000013.10:g.113594295_113594296del, NC_000013.10:g.113594296del, NC_000013.10:g.113594296dup, NC_000013.10:g.113594295_113594296dup, NC_000013.10:g.113594294_113594296dup, NC_000013.10:g.113594288_113594296dup, NC_000013.10:g.113594284_113594296dup

Select item 149143840915.

rs1491438409 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 13:113050228 (GRCh38)
13:113704543 (GRCh37)
Canonical SPDI:: NC_000013.11:113050228::AC
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AC=0.007651/1067 (GnomAD)
HGVS:: NC_000013.11:g.113050228_113050229insAC, NC_000013.10:g.113704542_113704543insAC

Select item 149140368116.

rs1491403681 [Homo sapiens]

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

Select item 149139201917.

rs1491392019 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:113081476 (GRCh38)
13:113735790 (GRCh37)
Canonical SPDI:: NC_000013.11:113081475:AG:
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.113081476_113081477del, NC_000013.10:g.113735790_113735791del

Select item 149132893218.

rs1491328932 [Homo sapiens]

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

Select item 149131561019.

rs1491315610 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:113081476 (GRCh38)
13:113735791 (GRCh37)
Canonical SPDI:: NC_000013.11:113081476:GGGGGG:GGGGGGG
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.113081482dup, NC_000013.10:g.113735796dup

Select item 149130627620.

rs1491306276 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:113050289 (GRCh38)
13:113704603 (GRCh37)
Canonical SPDI:: NC_000013.11:113050285:GAGAG:GAG
Gene:: MCF2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAG=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.113050287AG[1], NC_000013.10:g.113704601AG[1]

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