SNP Links for Gene (Select 148713) - SNP

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Select item 14915364181.

rs1491536418 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT,TATAT,TATATAATTATATATAATATATAATTAT,TATATATAATATATAATTAT,TTAATTTAT [Show Flanks]
Chromosome:: 1:202172729 (GRCh38)
1:202141858 (GRCh37)
Canonical SPDI:: NC_000001.11:202172729:AT:ATTAT,NC_000001.11:202172729:AT:ATTATAT,NC_000001.11:202172729:AT:ATTATATAATTATATATAATATATAATTAT,NC_000001.11:202172729:AT:ATTATATATAATATATAATTAT,NC_000001.11:202172729:AT:ATTTAATTTAT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATAT=0./0 (ALFA)
ATTATATAATTATATATAATATATAATT=0.00128/28 (TOMMO)
HGVS:: NC_000001.11:g.202172731_202172732insTAT, NC_000001.11:g.202172731_202172732insTATAT, NC_000001.11:g.202172730_202172731ATTATATA[2]TAATATATAATTAT[1], NC_000001.11:g.202172731_202172732insTATATATAATATATAATTAT, NC_000001.11:g.202172730_202172731ATTTA[2]T[1], NC_000001.10:g.202141859_202141860insTAT, NC_000001.10:g.202141859_202141860insTATAT, NC_000001.10:g.202141858_202141859ATTATATA[2]TAATATATAATTAT[1], NC_000001.10:g.202141859_202141860insTATATATAATATATAATTAT, NC_000001.10:g.202141858_202141859ATTTA[2]T[1]

Select item 14915253842.

rs1491525384 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 1:202172547 (GRCh38)
1:202141676 (GRCh37)
Canonical SPDI:: NC_000001.11:202172547::ATA
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0.01374/163 (ALFA)
HGVS:: NC_000001.11:g.202172547_202172548insATA, NC_000001.10:g.202141675_202141676insATA

Select item 14915194953.

rs1491519495 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAT,ATATAATATAATTATATATAAT,ATATAATATAATTATATATAATTATATATAAT,ATATATAAT [Show Flanks]
Chromosome:: 1:202172707 (GRCh38)
1:202141836 (GRCh37)
Canonical SPDI:: NC_000001.11:202172707:T:TATAT,NC_000001.11:202172707:T:TATATAATATAATTATATATAAT,NC_000001.11:202172707:T:TATATAATATAATTATATATAATTATATATAAT,NC_000001.11:202172707:T:TATATATAAT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TATA=0.0073/17 (GnomAD)
HGVS:: NC_000001.11:g.202172708_202172709insATAT, NC_000001.11:g.202172708TA[3]AT[2]AATTATATATAAT[1], NC_000001.11:g.202172708TA[3]ATATAATTAT[2]AT[2]AAT[1], NC_000001.11:g.202172708TA[4]AT[1], NC_000001.10:g.202141836_202141837insATAT, NC_000001.10:g.202141836TA[3]AT[2]AATTATATATAAT[1], NC_000001.10:g.202141836TA[3]ATATAATTAT[2]AT[2]AAT[1], NC_000001.10:g.202141836TA[4]AT[1]

Select item 14915043074.

rs1491504307 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATAAT [Show Flanks]
Chromosome:: 1:202172343 (GRCh38)
1:202141472 (GRCh37)
Canonical SPDI:: NC_000001.11:202172343:ATATATAAT:ATATATAATATATAAT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATAATATATAAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.202172346_202172352dup, NC_000001.10:g.202141474_202141480dup

Select item 14914981175.

rs1491498117 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:202182844 (GRCh38)
1:202151973 (GRCh37)
Canonical SPDI:: NC_000001.11:202182844:A:AA
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202182845dup, NC_000001.10:g.202151973dup

Select item 14914841286.

rs1491484128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT [Show Flanks]
Chromosome:: 1:202172442 (GRCh38)
1:202141570 (GRCh37)
Canonical SPDI:: NC_000001.11:202172437:ATATATAT:ATAT,NC_000001.11:202172437:ATATATAT:ATATAT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.0003/4 (TOMMO)
HGVS:: NC_000001.11:g.202172438AT[2], NC_000001.11:g.202172438AT[3], NC_000001.10:g.202141566AT[2], NC_000001.10:g.202141566AT[3]

Select item 14914812977.

rs1491481297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:202176083 (GRCh38)
1:202145212 (GRCh37)
Canonical SPDI:: NC_000001.11:202176083:G:GG
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000067/8 (GnomAD)
HGVS:: NC_000001.11:g.202176084dup, NC_000001.10:g.202145212dup

Select item 14914765918.

rs1491476591 has merged into rs912625461 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 1:202173822 (GRCh38)
1:202142950 (GRCh37)
Canonical SPDI:: NC_000001.11:202173818:TATATAT:TAT,NC_000001.11:202173818:TATATAT:TATAT,NC_000001.11:202173818:TATATAT:TATATATAT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
-=0.05667/34 (NorthernSweden)
-=0.1/4 (GENOME_DK)
-=0.14842/572 (ALSPAC)
-=0.20065/744 (TWINSUK)
HGVS:: NC_000001.11:g.202173820AT[1], NC_000001.11:g.202173820AT[2], NC_000001.11:g.202173820AT[4], NC_000001.10:g.202142948AT[1], NC_000001.10:g.202142948AT[2], NC_000001.10:g.202142948AT[4]

Select item 14914594569.

rs1491459456 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:202172480 (GRCh38)
1:202141609 (GRCh37)
Canonical SPDI:: NC_000001.11:202172480:T:TT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000001.11:g.202172481dup, NC_000001.10:g.202141609dup

Select item 149145517510.

rs1491455175 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AACGTA,AATATATA,ATA,TATATA,TATATATA,TATATATAA [Show Flanks]
Chromosome:: 1:202172415 (GRCh38)
1:202141544 (GRCh37)
Canonical SPDI:: NC_000001.11:202172415::A,NC_000001.11:202172415::AACGTA,NC_000001.11:202172415::AATATATA,NC_000001.11:202172415::ATA,NC_000001.11:202172415::TATATA,NC_000001.11:202172415::TATATATA,NC_000001.11:202172415::TATATATAA
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACGTA=0./0 (ALFA)
A=0.01685/6 (Korea1K)
HGVS:: NC_000001.11:g.202172415_202172416insA, NC_000001.11:g.202172415_202172416insAACGTA, NC_000001.11:g.202172415_202172416insAATATATA, NC_000001.11:g.202172415_202172416insATA, NC_000001.11:g.202172415_202172416insTATATA, NC_000001.11:g.202172415_202172416insTATATATA, NC_000001.11:g.202172415_202172416insTATATATAA, NC_000001.10:g.202141543_202141544insA, NC_000001.10:g.202141543_202141544insAACGTA, NC_000001.10:g.202141543_202141544insAATATATA, NC_000001.10:g.202141543_202141544insATA, NC_000001.10:g.202141543_202141544insTATATA, NC_000001.10:g.202141543_202141544insTATATATA, NC_000001.10:g.202141543_202141544insTATATATAA

Select item 149145379511.

rs1491453795 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:202176083 (GRCh38)
1:202145211 (GRCh37)
Canonical SPDI:: NC_000001.11:202176082:TG:
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000253/3 (ALFA)
-=0.00003/4 (GnomAD)
HGVS:: NC_000001.11:g.202176083_202176084del, NC_000001.10:g.202145211_202145212del

Select item 149143274612.

rs1491432746 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:202172623 (GRCh38)
1:202141752 (GRCh37)
Canonical SPDI:: NC_000001.11:202172623:AT:ATAT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.202172624_202172625dup, NC_000001.10:g.202141752_202141753dup

Select item 149143085013.

rs1491430850 has merged into rs377566548 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 1:202172708 (GRCh38)
1:202141836 (GRCh37)
Canonical SPDI:: NC_000001.11:202172706:TTT:T,NC_000001.11:202172706:TTT:TT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.02174/4 (Korea1K)
-=0.04584/382 (TOMMO)
HGVS:: NC_000001.11:g.202172708_202172709del, NC_000001.11:g.202172709del, NC_000001.10:g.202141836_202141837del, NC_000001.10:g.202141837del

Select item 149141606414.

rs1491416064 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:202172349 (GRCh38)
1:202141477 (GRCh37)
Canonical SPDI:: NC_000001.11:202172342:TATATATA:TATATA
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.202172343TA[3], NC_000001.10:g.202141471TA[3]

Select item 149137447015.

rs1491374470 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 1:202172454 (GRCh38)
1:202141583 (GRCh37)
Canonical SPDI:: NC_000001.11:202172454:T:TT,NC_000001.11:202172454:T:TTT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
TT=0.00008/1 (TOMMO)
HGVS:: NC_000001.11:g.202172455dup, NC_000001.11:g.202172455_202172456insTT, NC_000001.10:g.202141583dup, NC_000001.10:g.202141583_202141584insTT

Select item 149136730416.

rs1491367304 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATAT [Show Flanks]
Chromosome:: 1:202172409 (GRCh38)
1:202141538 (GRCh37)
Canonical SPDI:: NC_000001.11:202172409:ATAT:ATATGATAT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATGATAT=0.00354/42 (ALFA)
HGVS:: NC_000001.11:g.202172410_202172413AT[2]GATAT[1], NC_000001.10:g.202141538_202141541AT[2]GATAT[1]

Select item 149136586617.

rs1491365866 has merged into rs1244523031 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 1:202172548 (GRCh38)
1:202141676 (GRCh37)
Canonical SPDI:: NC_000001.11:202172546:TTT:T,NC_000001.11:202172546:TTT:TT,NC_000001.11:202172546:TTT:TTTT
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00142/19 (TOMMO)
-=0.01353/230 (GnomAD)
HGVS:: NC_000001.11:g.202172548_202172549del, NC_000001.11:g.202172549del, NC_000001.11:g.202172549dup, NC_000001.10:g.202141676_202141677del, NC_000001.10:g.202141677del, NC_000001.10:g.202141677dup

Select item 149135997918.

rs1491359979 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:202172729 (GRCh38)
1:202141857 (GRCh37)
Canonical SPDI:: NC_000001.11:202172728:AA:
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.202172729_202172730del, NC_000001.10:g.202141857_202141858del

Select item 149135515219.

rs1491355152 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:202182845 (GRCh38)
1:202151973 (GRCh37)
Canonical SPDI:: NC_000001.11:202182843:CAC:C
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202182845_202182846del, NC_000001.10:g.202151973_202151974del

Select item 149134564120.

rs1491345641 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,GC [Show Flanks]
Chromosome:: 1:202172850 (GRCh38)
1:202141979 (GRCh37)
Canonical SPDI:: NC_000001.11:202172850::AC,NC_000001.11:202172850::GC
Gene:: PTPRVP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
AC=0.00101/54 (GnomAD)
HGVS:: NC_000001.11:g.202172850_202172851insAC, NC_000001.11:g.202172850_202172851insGC, NC_000001.10:g.202141978_202141979insAC, NC_000001.10:g.202141978_202141979insGC