SNP Links for Gene (Select 5534) - SNP

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Select item 14915739781.

rs1491573978 has merged into rs11322366 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:68208937 (GRCh38)
2:68436069 (GRCh37)
Canonical SPDI:: NC_000002.12:68208927:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:68208927:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:68208927:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.00775/43 (ALFA)
T=0.23063/1155 (1000Genomes)
T=0.33567/335 (GoNL)
T=0.35/14 (GENOME_DK)
T=0.40949/6863 (TOMMO)
HGVS:: NC_000002.12:g.68208937_68208938del, NC_000002.12:g.68208938del, NC_000002.12:g.68208938dup, NC_000002.11:g.68436069_68436070del, NC_000002.11:g.68436070del, NC_000002.11:g.68436070dup

Select item 14915706832.

rs1491570683 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:68198510 (GRCh38)
2:68425642 (GRCh37)
Canonical SPDI:: NC_000002.12:68198508:ACA:A
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000079/11 (GnomAD)
-=0.000354/6 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.68198510_68198511del, NC_000002.11:g.68425642_68425643del

Select item 14915553803.

rs1491555380 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:68249300 (GRCh38)
2:68476433 (GRCh37)
Canonical SPDI:: NC_000002.12:68249300::G
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.68249300_68249301insG, NC_000002.11:g.68476432_68476433insG

Select item 14915356274.

rs1491535627 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATA [Show Flanks]
Chromosome:: 2:68232218 (GRCh38)
2:68459351 (GRCh37)
Canonical SPDI:: NC_000002.12:68232218:ATATA:ATATACATATA
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATACATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.68232219_68232223AT[2]ACATATA[1], NC_000002.11:g.68459351_68459355AT[2]ACATATA[1]

Select item 14915133555.

rs1491513355 has merged into rs200143942 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 2:68198190 (GRCh38)
2:68425322 (GRCh37)
Canonical SPDI:: NC_000002.12:68198185:ATATATAT:ATAT,NC_000002.12:68198185:ATATATAT:ATATAT,NC_000002.12:68198185:ATATATAT:ATATATATAT
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.00027/1 (TWINSUK)
-=0.00334/56 (TOMMO)
HGVS:: NC_000002.12:g.68198186AT[2], NC_000002.12:g.68198186AT[3], NC_000002.12:g.68198186AT[5], NC_000002.11:g.68425318AT[2], NC_000002.11:g.68425318AT[3], NC_000002.11:g.68425318AT[5]

Select item 14914695996.

rs1491469599 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:68182675 (GRCh38)
2:68409808 (GRCh37)
Canonical SPDI:: NC_000002.12:68182675:G:GG
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.68182676dup, NC_000002.11:g.68409808dup

Select item 14914373187.

rs1491437318 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATTCTGATATATATATATAT,ATATATTCTGATATATATATATATATAT,ATATGCTGATATATATATATAT,ATATTCTGATATATATATATAT,ATATTCTGATATATATATATATAT,ATATTCTGATATATATATATATATAT,ATATTCTGATATATATATATATATATAT,ATATTCTGATATATATATATATATATATAT,ATATTCTGATATATATATATTCTGATATATATATATAT,ATATTCTTATATATATATATAT,ATATTCTTATATATATATATATAT,ATATTGATATATATATATAT [Show Flanks]
Chromosome:: 2:68204362 (GRCh38)
2:68431494 (GRCh37)
Canonical SPDI:: NC_000002.12:68204353:ATATATATATAT:ATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATATTCTGATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATATTCTGATATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATGCTGATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTGATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTGATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTGATATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTGATATATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTGATATATATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTGATATATATATATTCTGATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTTATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTCTTATATATATATATATAT,NC_000002.12:68204353:ATATATATATAT:ATATATATATATTGATATATATATATAT
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
-=0.347/1738 (1000Genomes)
-=0.3483/209 (NorthernSweden)
HGVS:: NC_000002.12:g.68204354AT[4], NC_000002.12:g.68204354AT[5], NC_000002.12:g.68204354AT[7], NC_000002.12:g.68204354AT[8], NC_000002.12:g.68204354AT[9], NC_000002.12:g.68204354AT[10], NC_000002.12:g.68204354_68204365AT[7]TCTGATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[7]TCTGATATATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]GCTGATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]TCTGATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]TCTGATATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]TCTGATATATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]TCTGATATATATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]TCTGATATATATATATATATATATAT[1], NC_000002.12:g.68204354_68204365ATATATATATATTCTG[2]AT[7], NC_000002.12:g.68204354_68204365AT[6]TCTTATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]TCTTATATATATATATATAT[1], NC_000002.12:g.68204354_68204365AT[6]TGATATATATATATAT[1], NC_000002.11:g.68431486AT[4], NC_000002.11:g.68431486AT[5], NC_000002.11:g.68431486AT[7], NC_000002.11:g.68431486AT[8], NC_000002.11:g.68431486AT[9], NC_000002.11:g.68431486AT[10], NC_000002.11:g.68431486_68431497AT[7]TCTGATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[7]TCTGATATATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]GCTGATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]TCTGATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]TCTGATATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]TCTGATATATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]TCTGATATATATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]TCTGATATATATATATATATATATAT[1], NC_000002.11:g.68431486_68431497ATATATATATATTCTG[2]AT[7], NC_000002.11:g.68431486_68431497AT[6]TCTTATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]TCTTATATATATATATATAT[1], NC_000002.11:g.68431486_68431497AT[6]TGATATATATATATAT[1]

Select item 14914341518.

rs1491434151 has merged into rs34117344 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:68190268 (GRCh38)
2:68417400 (GRCh37)
Canonical SPDI:: NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68190255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.68190268_68190282del, NC_000002.12:g.68190269_68190282del, NC_000002.12:g.68190270_68190282del, NC_000002.12:g.68190271_68190282del, NC_000002.12:g.68190272_68190282del, NC_000002.12:g.68190273_68190282del, NC_000002.12:g.68190274_68190282del, NC_000002.12:g.68190275_68190282del, NC_000002.12:g.68190276_68190282del, NC_000002.12:g.68190277_68190282del, NC_000002.12:g.68190278_68190282del, NC_000002.12:g.68190279_68190282del, NC_000002.12:g.68190280_68190282del, NC_000002.12:g.68190281_68190282del, NC_000002.12:g.68190282del, NC_000002.12:g.68190282dup, NC_000002.12:g.68190281_68190282dup, NC_000002.12:g.68190280_68190282dup, NC_000002.12:g.68190279_68190282dup, NC_000002.11:g.68417400_68417414del, NC_000002.11:g.68417401_68417414del, NC_000002.11:g.68417402_68417414del, NC_000002.11:g.68417403_68417414del, NC_000002.11:g.68417404_68417414del, NC_000002.11:g.68417405_68417414del, NC_000002.11:g.68417406_68417414del, NC_000002.11:g.68417407_68417414del, NC_000002.11:g.68417408_68417414del, NC_000002.11:g.68417409_68417414del, NC_000002.11:g.68417410_68417414del, NC_000002.11:g.68417411_68417414del, NC_000002.11:g.68417412_68417414del, NC_000002.11:g.68417413_68417414del, NC_000002.11:g.68417414del, NC_000002.11:g.68417414dup, NC_000002.11:g.68417413_68417414dup, NC_000002.11:g.68417412_68417414dup, NC_000002.11:g.68417411_68417414dup

Select item 14914129659.

rs1491412965 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:68198062 (GRCh38)
2:68425194 (GRCh37)
Canonical SPDI:: NC_000002.12:68198061:CA:
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.68198062_68198063del, NC_000002.11:g.68425194_68425195del

Select item 149138766610.

rs1491387666 has merged into rs1553407218 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 2:68217045 (GRCh38)
2:68444177 (GRCh37)
Canonical SPDI:: NC_000002.12:68217039:AGAGAGAGA:AGAGA,NC_000002.12:68217039:AGAGAGAGA:AGAGAGA,NC_000002.12:68217039:AGAGAGAGA:AGAGAGAGAGA,NC_000002.12:68217039:AGAGAGAGA:AGAGAGAGAGAGA
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.263671/3028 (GoESP)
HGVS:: NC_000002.12:g.68217041GA[2], NC_000002.12:g.68217041GA[3], NC_000002.12:g.68217041GA[5], NC_000002.12:g.68217041GA[6], NC_000002.11:g.68444173GA[2], NC_000002.11:g.68444173GA[3], NC_000002.11:g.68444173GA[5], NC_000002.11:g.68444173GA[6]

Select item 149135960311.

rs1491359603 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:68182071 (GRCh38)
2:68409203 (GRCh37)
Canonical SPDI:: NC_000002.12:68182070:AC:
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00177/21 (ALFA)
HGVS:: NC_000002.12:g.68182071_68182072del, NC_000002.11:g.68409203_68409204del

Select item 149135535412.

rs1491355354 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:68198384 (GRCh38)
2:68425516 (GRCh37)
Canonical SPDI:: NC_000002.12:68198383:CA:
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.68198384_68198385del, NC_000002.11:g.68425516_68425517del

Select item 149135468313.

rs1491354683 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:68198185 (GRCh38)
2:68425317 (GRCh37)
Canonical SPDI:: NC_000002.12:68198184:AA:
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.68198185_68198186del, NC_000002.11:g.68425317_68425318del

Select item 149134110314.

rs1491341103 has merged into rs200145582 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 2:68182076 (GRCh38)
2:68409208 (GRCh37)
Canonical SPDI:: NC_000002.12:68182071:CCCCCCCC:CCCC,NC_000002.12:68182071:CCCCCCCC:CCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:68182071:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.68182076_68182079del, NC_000002.12:g.68182077_68182079del, NC_000002.12:g.68182078_68182079del, NC_000002.12:g.68182079del, NC_000002.12:g.68182079dup, NC_000002.12:g.68182078_68182079dup, NC_000002.12:g.68182077_68182079dup, NC_000002.12:g.68182076_68182079dup, NC_000002.12:g.68182075_68182079dup, NC_000002.12:g.68182079_68182080insCCCCCCCCCCC, NC_000002.12:g.68182079_68182080insCCCCCCCCCCCCCCC, NC_000002.12:g.68182079_68182080insCCCCCCCCCCCCCCCCC, NC_000002.12:g.68182079_68182080insCCCCCCCCCCCCCCCCCC, NC_000002.12:g.68182079_68182080insCCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.68182079_68182080insCCCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.68409208_68409211del, NC_000002.11:g.68409209_68409211del, NC_000002.11:g.68409210_68409211del, NC_000002.11:g.68409211del, NC_000002.11:g.68409211dup, NC_000002.11:g.68409210_68409211dup, NC_000002.11:g.68409209_68409211dup, NC_000002.11:g.68409208_68409211dup, NC_000002.11:g.68409207_68409211dup, NC_000002.11:g.68409211_68409212insCCCCCCCCCCC, NC_000002.11:g.68409211_68409212insCCCCCCCCCCCCCCC, NC_000002.11:g.68409211_68409212insCCCCCCCCCCCCCCCCC, NC_000002.11:g.68409211_68409212insCCCCCCCCCCCCCCCCCC, NC_000002.11:g.68409211_68409212insCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.68409211_68409212insCCCCCCCCCCCCCCCCCCCCCC

Select item 149132864915.

rs1491328649 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:68182676 (GRCh38)
2:68409808 (GRCh37)
Canonical SPDI:: NC_000002.12:68182674:AGA:A
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00035/10 (TOMMO)
HGVS:: NC_000002.12:g.68182676_68182677del, NC_000002.11:g.68409808_68409809del

Select item 149126326816.

rs1491263268 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATATTCTGATA [Show Flanks]
Chromosome:: 2:68204353 (GRCh38)
2:68431486 (GRCh37)
Canonical SPDI:: NC_000002.12:68204353:A:AATATATATATATTCTGATA
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.68204354_68204355insATATATATATATTCTGATA, NC_000002.11:g.68431486_68431487insATATATATATATTCTGATA

Select item 149125698217.

rs1491256982 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:68198062 (GRCh38)
2:68425195 (GRCh37)
Canonical SPDI:: NC_000002.12:68198062::CA
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
CA=0.000025/1 (GnomAD)
HGVS:: NC_000002.12:g.68198062_68198063insCA, NC_000002.11:g.68425194_68425195insCA

Select item 149124409118.

rs1491244091 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:68182657 (GRCh38)
2:68409789 (GRCh37)
Canonical SPDI:: NC_000002.12:68182656:TA:
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000002.12:g.68182657_68182658del, NC_000002.11:g.68409789_68409790del

Select item 149124225519.

rs1491242255 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:68204378 (GRCh38)
2:68431510 (GRCh37)
Canonical SPDI:: NC_000002.12:68204376:TGT:T
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.68204378_68204379del, NC_000002.11:g.68431510_68431511del

Select item 149121750120.

rs1491217501 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 2:68198439 (GRCh38)
2:68425571 (GRCh37)
Canonical SPDI:: NC_000002.12:68198434:GTGTGT:GTGT,NC_000002.12:68198434:GTGTGT:GTGTGTGT
Gene:: PPP3R1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGT=0./0 (ALFA)
-=0.000033/4 (GnomAD)
HGVS:: NC_000002.12:g.68198435GT[2], NC_000002.12:g.68198435GT[4], NC_000002.11:g.68425567GT[2], NC_000002.11:g.68425567GT[4]

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