SNP Links for Gene (Select 758) - SNP

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Select item 14915557161.

rs1491555716 has merged into rs1192913131 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTGTTTCTTTCTTTTTTT [Show Flanks]
Chromosome:: 22:43463809 (GRCh38)
22:43859703 (GRCh37)
Canonical SPDI:: NC_000022.11:43463806:TTTT:TT,NC_000022.11:43463806:TTTT:TTT,NC_000022.11:43463806:TTTT:TTTTGTTTCTTTCTTTTTTT
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.43463809_43463810del, NC_000022.11:g.43463810del, NC_000022.11:g.43463807_43463810T[4]GTTTCTTTCTTTTTTT[1], NC_000022.10:g.43859702_43859704dup, NC_000022.10:g.43859704dup, NC_000022.10:g.43859703_43859704dup, NC_000022.10:g.43859701_43859704T[4]GTTTCTTTCTTTTTTTTTT[1]

Select item 14915130312.

rs1491513031 has merged into rs547383228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 22:43447809 (GRCh38)
22:43843716 (GRCh37)
Canonical SPDI:: NC_000022.11:43447799:TATATATATATATAT:TATATATAT,NC_000022.11:43447799:TATATATATATATAT:TATATATATAT,NC_000022.11:43447799:TATATATATATATAT:TATATATATATAT,NC_000022.11:43447799:TATATATATATATAT:TATATATATATATATAT,NC_000022.11:43447799:TATATATATATATAT:TATATATATATATATATAT,NC_000022.11:43447799:TATATATATATATAT:TATATATATATATATATATAT
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.001/5 (1000Genomes)
HGVS:: NC_000022.11:g.43447801AT[4], NC_000022.11:g.43447801AT[5], NC_000022.11:g.43447801AT[6], NC_000022.11:g.43447801AT[8], NC_000022.11:g.43447801AT[9], NC_000022.11:g.43447801AT[10], NC_000022.10:g.43843708AT[4], NC_000022.10:g.43843708AT[5], NC_000022.10:g.43843708AT[6], NC_000022.10:g.43843708AT[8], NC_000022.10:g.43843708AT[9], NC_000022.10:g.43843708AT[10]

Select item 14914895963.

rs1491489596 [Homo sapiens]

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

Select item 14914550804.

rs1491455080 [Homo sapiens]

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

Select item 14914266675.

rs1491426667 has merged into rs759681701 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTT [Show Flanks]
Chromosome:: 22:43463833 (GRCh38)
22:43859711 (GRCh37)
Canonical SPDI:: NC_000022.11:43463831:TTT:T,NC_000022.11:43463831:TTT:TT,NC_000022.11:43463831:TTT:TTTT,NC_000022.11:43463831:TTT:TTTTT,NC_000022.11:43463831:TTT:TTTTTTTTT
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000093/2 (TOMMO)
HGVS:: NC_000022.11:g.43463833_43463834del, NC_000022.11:g.43463834del, NC_000022.11:g.43463834dup, NC_000022.11:g.43463833_43463834dup, NC_000022.11:g.43463834_43463835insTTTTTT, NC_000022.10:g.43859711_43859712del, NC_000022.10:g.43859712del, NC_000022.10:g.43859712dup, NC_000022.10:g.43859711_43859712dup, NC_000022.10:g.43859712_43859713insTTTTTT

Select item 14914245526.

rs1491424552 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:43460274 (GRCh38)
22:43856169 (GRCh37)
Canonical SPDI:: NC_000022.11:43460274::T
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.43460274_43460275insT, NC_000022.10:g.43856168_43856169insT

Select item 14914207657.

rs1491420765 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:43453331 (GRCh38)
22:43849231 (GRCh37)
Canonical SPDI:: NC_000022.11:43453330:CT:
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43453331_43453332del, NC_000022.10:g.43849231_43849232del

Select item 14914066408.

rs1491406640 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:43419583 (GRCh38)
22:43815589 (GRCh37)
Canonical SPDI:: NC_000022.11:43419582:TT:
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0003/1 (ALSPAC)
-=0.0016/6 (TWINSUK)
HGVS:: NC_000022.11:g.43419583_43419584del, NC_000022.10:g.43815589_43815590del

Select item 14913956779.

rs1491395677 has merged into rs135048 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTTATTTATTTATTTATTTATT>-,TATT,TATTTATT,TATTTATTTATT,TATTTATTTATTTATT,TATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT [Show Flanks]
Chromosome:: 22:43448597 (GRCh38)
22:43844507 (GRCh37)
Canonical SPDI:: NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:43448578:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATTTATTTATT=0./0 (ALFA)
TTTATTTATTTATTTATTTA=0.000008/2 (TOPMED)
-=0.264177/1323 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000022.11:g.43448581TATT[4], NC_000022.11:g.43448581TATT[5], NC_000022.11:g.43448581TATT[6], NC_000022.11:g.43448581TATT[7], NC_000022.11:g.43448581TATT[8], NC_000022.11:g.43448581TATT[9], NC_000022.11:g.43448581TATT[11], NC_000022.11:g.43448581TATT[12], NC_000022.11:g.43448581TATT[13], NC_000022.11:g.43448581TATT[14], NC_000022.11:g.43448581TATT[15], NC_000022.10:g.43844491TATT[10], NC_000022.10:g.43844491TATT[4], NC_000022.10:g.43844491TATT[5], NC_000022.10:g.43844491TATT[6], NC_000022.10:g.43844491TATT[8], NC_000022.10:g.43844491TATT[9], NC_000022.10:g.43844491TATT[11], NC_000022.10:g.43844491TATT[12], NC_000022.10:g.43844491TATT[13], NC_000022.10:g.43844491TATT[14], NC_000022.10:g.43844491TATT[15]

Select item 149138616110.

rs1491386161 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:43448987 (GRCh38)
22:43844885 (GRCh37)
Canonical SPDI:: NC_000022.11:43448984:CTCT:CT
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43448985CT[1], NC_000022.10:g.43844883CT[1]

Select item 149138369911.

rs1491383699 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 22:43415224 (GRCh38)
22:43811230 (GRCh37)
Canonical SPDI:: NC_000022.11:43415223:GC:
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000022.11:g.43415224_43415225del, NC_000022.10:g.43811230_43811231del

Select item 149138156912.

rs1491381569 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:43463831 (GRCh38)
22:43859709 (GRCh37)
Canonical SPDI:: NC_000022.11:43463829:TCT:T
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.002507/326 (GnomAD)
-=0.008957/194 (TOMMO)
HGVS:: NC_000022.11:g.43463831_43463832del, NC_000022.10:g.43859709_43859710del

Select item 149136010913.

rs1491360109 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:43447799 (GRCh38)
22:43843706 (GRCh37)
Canonical SPDI:: NC_000022.11:43447798:TT:
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000032/4 (GnomAD)
HGVS:: NC_000022.11:g.43447799_43447800del, NC_000022.10:g.43843706_43843707del

Select item 149134843314.

rs1491348433 has merged into rs776108565 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:43447889 (GRCh38)
22:4 (GRCh37)
Canonical SPDI:: NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:43447883:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.0837/38 (NorthernSweden)
-=0.4474/17 (GENOME_DK)
HGVS:: NC_000022.11:g.43447889_43447897del, NC_000022.11:g.43447890_43447897del, NC_000022.11:g.43447891_43447897del, NC_000022.11:g.43447892_43447897del, NC_000022.11:g.43447893_43447897del, NC_000022.11:g.43447894_43447897del, NC_000022.11:g.43447895_43447897del, NC_000022.11:g.43447896_43447897del, NC_000022.11:g.43447897del, NC_000022.11:g.43447897dup, NC_000022.11:g.43447896_43447897dup, NC_000022.11:g.43447895_43447897dup, NC_000022.11:g.43447894_43447897dup, NC_000022.11:g.43447893_43447897dup, NC_000022.11:g.43447892_43447897dup, NC_000022.11:g.43447891_43447897dup, NC_000022.11:g.43447890_43447897dup

Select item 149133253315.

rs1491332533 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 22:43432544 (GRCh38)
22:43828552 (GRCh37)
Canonical SPDI:: NC_000022.11:43432544::C,NC_000022.11:43432544::G
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000502/54 (GnomAD)
G=0.000559/1 (Korea1K)
G=0.00342/53 (TOMMO)
HGVS:: NC_000022.11:g.43432544_43432545insC, NC_000022.11:g.43432544_43432545insG, NC_000022.10:g.43828551_43828552insC, NC_000022.10:g.43828551_43828552insG

Select item 149129062816.

rs1491290628 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 22:43464289 (GRCh38)
22:43860168 (GRCh37)
Canonical SPDI:: NC_000022.11:43464289:T:TGT,NC_000022.11:43464289:T:TGTGT,NC_000022.11:43464289:T:TGTGTGTGT,NC_000022.11:43464289:T:TGTGTGTGTGT,NC_000022.11:43464289:T:TGTGTGTGTGTGT
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TGTGTGTG=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43464290_43464291insGT, NC_000022.11:g.43464290_43464291insGTGT, NC_000022.11:g.43464291GT[4], NC_000022.11:g.43464291GT[5], NC_000022.11:g.43464291GT[6], NC_000022.10:g.43860168_43860169insGT, NC_000022.10:g.43860168_43860169insGTGT, NC_000022.10:g.43860169GT[4], NC_000022.10:g.43860169GT[5], NC_000022.10:g.43860169GT[6]

Select item 149129045717.

rs1491290457 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:43463859 (GRCh38)
22:43859737 (GRCh37)
Canonical SPDI:: NC_000022.11:43463857:TCT:T
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.43463859_43463860del, NC_000022.10:g.43859737_43859738del

Select item 149128521618.

rs1491285216 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTCTTTCTTTCTTTCTTTCTTTC [Show Flanks]
Chromosome:: 22:43463832 (GRCh38)
22:43859711 (GRCh37)
Canonical SPDI:: NC_000022.11:43463832:TTCTTTCTTTCTTTCTTTCTTTC:TTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTC
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.43463833_43463855TTCT[5]TTCCTTCTTTCTTTCTTTCTTTCTTTC[1], NC_000022.10:g.43859711_43859733TTCT[5]TTCCTTCTTTCTTTCTTTCTTTCTTTC[1]

Select item 149128384519.

rs1491283845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:43432265 (GRCh38)
22:43828272 (GRCh37)
Canonical SPDI:: NC_000022.11:43432263:AAA:A
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.43432265_43432266del, NC_000022.10:g.43828272_43828273del

Select item 149127181220.

rs1491271812 has merged into rs1195789716 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 22:43432313 (GRCh38)
22:43828320 (GRCh37)
Canonical SPDI:: NC_000022.11:43432303:AGAGAGAGAGAGA:AGAGAGAGA,NC_000022.11:43432303:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000022.11:43432303:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: MPPED1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0.00006/1 (ALFA)
-=0.00015/4 (TOMMO)
HGVS:: NC_000022.11:g.43432305GA[4], NC_000022.11:g.43432305GA[5], NC_000022.11:g.43432305GA[7], NC_000022.10:g.43828312GA[4], NC_000022.10:g.43828312GA[5], NC_000022.10:g.43828312GA[7]

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