SNP Links for Gene (Select 400818) - SNP

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Select item 14915202531.

rs1491520253 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:149070320 (GRCh38)
1:144817290 (GRCh37)
Canonical SPDI:: NC_000001.11:149070319:CA:
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000001.11:g.149070320_149070321del, NW_003871055.3:g.5885733_5885734del, NC_000001.10:g.144817290_144817291del

Select item 14915096822.

rs1491509682 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:149084342 (GRCh38)
1:144612936 (GRCh37)
Canonical SPDI:: NC_000001.11:149084341:AA:
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.149084342_149084343del, NW_003871055.3:g.5899755_5899756del, NC_000001.10:g.144612936_144612937del, NW_025791753.1:g.51662_51663del

Select item 14914157133.

rs1491415713 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:149084428 (GRCh38)
1:144612850 (GRCh37)
Canonical SPDI:: NC_000001.11:149084427:TT:
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.149084428_149084429del, NW_003871055.3:g.5899841_5899842del, NG_034074.3:g.50_51del, NC_000001.10:g.144612850_144612851del, NW_025791753.1:g.51576_51577del

Select item 14913251884.

rs1491325188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 1:149087319 (GRCh38)
1:144609944 (GRCh37)
Canonical SPDI:: NC_000001.11:149087319:TAT:TATGTAT
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATGTAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.149087322_149087323insGTAT, NW_003871055.3:g.5902735_5902736insGTAT, NC_000001.10:g.144609946_144609947insCATA, NW_025791753.1:g.48664_48665insCATA

Select item 14912927295.

rs1491292729 has merged into rs1432072038 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 1:149084348 (GRCh38)
1:144612933 (GRCh37)
Canonical SPDI:: NC_000001.11:149084342:ATATATATA:ATATA,NC_000001.11:149084342:ATATATATA:ATATATA,NC_000001.11:149084342:ATATATATA:ATATATATATA
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0.000054/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
AT=0.000468/3 (1000Genomes)
HGVS:: NC_000001.11:g.149084344TA[2], NC_000001.11:g.149084344TA[3], NC_000001.11:g.149084344TA[5], NW_003871055.3:g.5899757TA[2], NW_003871055.3:g.5899757TA[3], NW_003871055.3:g.5899757TA[5], NC_000001.10:g.144612929AT[2], NC_000001.10:g.144612929AT[3], NC_000001.10:g.144612929AT[5], NW_025791753.1:g.51655AT[2], NW_025791753.1:g.51655AT[3], NW_025791753.1:g.51655AT[5]

Select item 14912518306.

rs1491251830 has merged into rs61093688 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 1:149087326 (GRCh38)
1:144609941 (GRCh37)
Canonical SPDI:: NC_000001.11:149087318:ATATATATATATATA:ATATATA,NC_000001.11:149087318:ATATATATATATATA:ATATATATA,NC_000001.11:149087318:ATATATATATATATA:ATATATATATA,NC_000001.11:149087318:ATATATATATATATA:ATATATATATATA,NC_000001.11:149087318:ATATATATATATATA:ATATATATATATATATA,NC_000001.11:149087318:ATATATATATATATA:ATATATATATATATATATA
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
AT=0.02571/47 (Korea1K)
HGVS:: NC_000001.11:g.149087320TA[3], NC_000001.11:g.149087320TA[4], NC_000001.11:g.149087320TA[5], NC_000001.11:g.149087320TA[6], NC_000001.11:g.149087320TA[8], NC_000001.11:g.149087320TA[9], NW_003871055.3:g.5902733TA[3], NW_003871055.3:g.5902733TA[4], NW_003871055.3:g.5902733TA[5], NW_003871055.3:g.5902733TA[6], NW_003871055.3:g.5902733TA[8], NW_003871055.3:g.5902733TA[9], NC_000001.10:g.144609934_144609940delinsATATATA, NC_000001.10:g.144609916GT[9], NC_000001.10:g.144609934_144609940delinsA, NC_000001.10:g.144609934_144609940delinsATA, NC_000001.10:g.144609934_144609940delinsATATA, NC_000001.10:g.144609934_144609940delinsATATATATA, NC_000001.10:g.144609934_144609940delinsATATATATATA, NW_025791753.1:g.48652_48658delinsATATATA, NW_025791753.1:g.48632GT[10], NW_025791753.1:g.48652_48658delinsA, NW_025791753.1:g.48652_48658delinsATA, NW_025791753.1:g.48652_48658delinsATATA, NW_025791753.1:g.48652_48658delinsATATATATA, NW_025791753.1:g.48652_48658delinsATATATATATA

Select item 14912443567.

rs1491244356 has merged into rs1466517505 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 1:149067318 (GRCh38)
1:144820304 (GRCh37)
Canonical SPDI:: NC_000001.11:149067304:TATATATATATATATAT:TATATATATATAT,NC_000001.11:149067304:TATATATATATATATAT:TATATATATATATAT,NC_000001.11:149067304:TATATATATATATATAT:TATATATATATATATATAT,NC_000001.11:149067304:TATATATATATATATAT:TATATATATATATATATATAT,NC_000001.11:149067304:TATATATATATATATAT:TATATATATATATATATATATAT,NC_000001.11:149067304:TATATATATATATATAT:TATATATATATATATATATATATAT
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.149067306AT[6], NC_000001.11:g.149067306AT[7], NC_000001.11:g.149067306AT[9], NC_000001.11:g.149067306AT[10], NC_000001.11:g.149067306AT[11], NC_000001.11:g.149067306AT[12], NW_003871055.3:g.5882719AT[6], NW_003871055.3:g.5882719AT[7], NW_003871055.3:g.5882719AT[9], NW_003871055.3:g.5882719AT[10], NW_003871055.3:g.5882719AT[11], NW_003871055.3:g.5882719AT[12], NC_000001.10:g.144820291_144820292delinsTAT, NC_000001.10:g.144820291_144820293del, NC_000001.10:g.144820291_144820292delinsT, NC_000001.10:g.144820291_144820292delinsTATAT, NC_000001.10:g.144820291_144820292delinsTATATAT, NC_000001.10:g.144820291_144820292delinsTATATATAT, NC_000001.10:g.144820291_144820292delinsTATATATATAT

Select item 14911630768.

rs1491163076 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:149067305 (GRCh38)
1:144820304 (GRCh37)
Canonical SPDI:: NC_000001.11:149067305:A:ACA
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.149067306_149067307insCA, NW_003871055.3:g.5882719_5882720insCA, NC_000001.10:g.144820304_144820305insGT

Select item 14911193699.

rs1491119369 has merged into rs3979925 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:149070331 (GRCh38)
1:144817277 (GRCh37)
Canonical SPDI:: NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:149070320:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.149070331_149070345del, NC_000001.11:g.149070332_149070345del, NC_000001.11:g.149070334_149070345del, NC_000001.11:g.149070335_149070345del, NC_000001.11:g.149070336_149070345del, NC_000001.11:g.149070337_149070345del, NC_000001.11:g.149070338_149070345del, NC_000001.11:g.149070339_149070345del, NC_000001.11:g.149070340_149070345del, NC_000001.11:g.149070341_149070345del, NC_000001.11:g.149070342_149070345del, NC_000001.11:g.149070343_149070345del, NC_000001.11:g.149070344_149070345del, NC_000001.11:g.149070345del, NC_000001.11:g.149070345dup, NC_000001.11:g.149070344_149070345dup, NC_000001.11:g.149070343_149070345dup, NC_000001.11:g.149070342_149070345dup, NC_000001.11:g.149070341_149070345dup, NC_000001.11:g.149070339_149070345dup, NW_003871055.3:g.5885744_5885758del, NW_003871055.3:g.5885745_5885758del, NW_003871055.3:g.5885747_5885758del, NW_003871055.3:g.5885748_5885758del, NW_003871055.3:g.5885749_5885758del, NW_003871055.3:g.5885750_5885758del, NW_003871055.3:g.5885751_5885758del, NW_003871055.3:g.5885752_5885758del, NW_003871055.3:g.5885753_5885758del, NW_003871055.3:g.5885754_5885758del, NW_003871055.3:g.5885755_5885758del, NW_003871055.3:g.5885756_5885758del, NW_003871055.3:g.5885757_5885758del, NW_003871055.3:g.5885758del, NW_003871055.3:g.5885758dup, NW_003871055.3:g.5885757_5885758dup, NW_003871055.3:g.5885756_5885758dup, NW_003871055.3:g.5885755_5885758dup, NW_003871055.3:g.5885754_5885758dup, NW_003871055.3:g.5885752_5885758dup, NC_000001.10:g.144817290dup, NC_000001.10:g.144817277_144817290del, NC_000001.10:g.144817278_144817290del, NC_000001.10:g.144817280_144817290del, NC_000001.10:g.144817281_144817290del, NC_000001.10:g.144817282_144817290del, NC_000001.10:g.144817283_144817290del, NC_000001.10:g.144817284_144817290del, NC_000001.10:g.144817285_144817290del, NC_000001.10:g.144817286_144817290del, NC_000001.10:g.144817287_144817290del, NC_000001.10:g.144817288_144817290del, NC_000001.10:g.144817289_144817290del, NC_000001.10:g.144817290del, NC_000001.10:g.144817289_144817290dup, NC_000001.10:g.144817288_144817290dup, NC_000001.10:g.144817287_144817290dup, NC_000001.10:g.144817286_144817290dup, NC_000001.10:g.144817285_144817290dup, NC_000001.10:g.144817283_144817290dup

Select item 149111845110.

rs1491118451 has merged into rs1186413462 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 1:149084436 (GRCh38)
1:144612844 (GRCh37)
Canonical SPDI:: NC_000001.11:149084428:TATATATATATATAT:TATATAT,NC_000001.11:149084428:TATATATATATATAT:TATATATAT,NC_000001.11:149084428:TATATATATATATAT:TATATATATAT,NC_000001.11:149084428:TATATATATATATAT:TATATATATATAT,NC_000001.11:149084428:TATATATATATATAT:TATATATATATATATAT,NC_000001.11:149084428:TATATATATATATAT:TATATATATATATATATATAT
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.00056/1 (Korea1K)
HGVS:: NC_000001.11:g.149084430AT[3], NC_000001.11:g.149084430AT[4], NC_000001.11:g.149084430AT[5], NC_000001.11:g.149084430AT[6], NC_000001.11:g.149084430AT[8], NC_000001.11:g.149084430AT[10], NW_003871055.3:g.5899843AT[3], NW_003871055.3:g.5899843AT[4], NW_003871055.3:g.5899843AT[5], NW_003871055.3:g.5899843AT[6], NW_003871055.3:g.5899843AT[8], NW_003871055.3:g.5899843AT[10], NG_034074.3:g.52AT[3], NG_034074.3:g.52AT[4], NG_034074.3:g.52AT[5], NG_034074.3:g.52AT[6], NG_034074.3:g.52AT[8], NG_034074.3:g.52AT[10], NC_000001.10:g.144612837A>T, NC_000001.10:g.144612837_144612844del, NC_000001.10:g.144612837_144612842del, NC_000001.10:g.144612837_144612840del, NC_000001.10:g.144612837_144612838del, NC_000001.10:g.144612837delinsTAT, NC_000001.10:g.144612837delinsTATATAT, NW_025791753.1:g.51563A>T, NW_025791753.1:g.51563_51570del, NW_025791753.1:g.51563_51568del, NW_025791753.1:g.51563_51566del, NW_025791753.1:g.51563_51564del, NW_025791753.1:g.51563delinsTAT, NW_025791753.1:g.51563delinsTATATAT

Select item 149103614711.

rs1491036147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA,CA [Show Flanks]
Chromosome:: 1:149087324 (GRCh38)
1:144609916 (GRCh37)
Canonical SPDI:: NC_000001.11:149087324:A:AAA,NC_000001.11:149087324:A:ACA
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.149087325_149087326insAA, NC_000001.11:g.149087325_149087326insCA, NW_003871055.3:g.5902738_5902739insAA, NW_003871055.3:g.5902738_5902739insCA, NC_000001.10:g.144609941_144609942insTT, NC_000001.10:g.144609916GT[14], NW_025791753.1:g.48659_48660insTT, NW_025791753.1:g.48632GT[15]

Select item 149098964612.

rs1490989646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:149076460 (GRCh38)
1:144811152 (GRCh37)
Canonical SPDI:: NC_000001.11:149076459:G:A,NC_000001.11:149076459:G:C
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000022/3 (GnomAD)
T=0.00006/1 (TOMMO)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.149076460G>A, NC_000001.11:g.149076460G>C, NW_003871055.3:g.5891873G>A, NW_003871055.3:g.5891873G>C, NC_000001.10:g.144811152C>T, NC_000001.10:g.144811152C>G

Select item 149096211813.

rs1490962118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:149085077 (GRCh38)
1:144612203 (GRCh37)
Canonical SPDI:: NC_000001.11:149085076:T:A,NC_000001.11:149085076:T:C
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.149085077T>A, NC_000001.11:g.149085077T>C, NW_003871055.3:g.5900490T>A, NW_003871055.3:g.5900490T>C, NG_034074.3:g.699T>A, NG_034074.3:g.699T>C, NC_000001.10:g.144612203A>T, NC_000001.10:g.144612203A>G, NW_025791753.1:g.50929A>T, NW_025791753.1:g.50929A>G, NR_003242.3:n.517T>A, NR_003242.3:n.517T>C, NR_003242.2:n.525T>A, NR_003242.2:n.525T>C, NM_139020.1:c.97T>A, NM_139020.1:c.97T>C

Select item 149092305514.

rs1490923055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:149076897 (GRCh38)
1:144620405 (GRCh37)
Canonical SPDI:: NC_000001.11:149076896:C:G
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.149076897C>G, NW_003871055.3:g.5892310C>G, NC_000001.10:g.144620405G>C, NW_025791753.1:g.59131G>C

Select item 149091145515.

rs1490911455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:149085781 (GRCh38)
1:144611497 (GRCh37)
Canonical SPDI:: NC_000001.11:149085780:T:C
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.149085781T>C, NW_003871055.3:g.5901194T>C, NC_000001.10:g.144611497A>G, NW_025791753.1:g.50223A>G, NR_003242.3:n.1223T>C, NR_003242.2:n.1231T>C, NM_139020.1:c.*624T>C

Select item 149088186616.

rs1490881866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:149055306 (GRCh38)
1:144829134 (GRCh37)
Canonical SPDI:: NC_000001.11:149055305:G:C,NC_000001.11:149055305:G:T
Gene:: NBPF9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000285/4 (ALFA)
T=0.000135/19 (GnomAD)
T=0.000238/63 (TOPMED)
HGVS:: NC_000001.11:g.149055306G>C, NC_000001.11:g.149055306G>T, NW_003871055.3:g.5870719G>C, NW_003871055.3:g.5870719G>T, NC_000001.10:g.144829134C>G, NC_000001.10:g.144829134C>A, NM_001037675.4:c.*350C>G, NM_001037675.4:c.*350C>A, NM_001037675.3:c.*350C>G, NM_001037675.3:c.*350C>A, NM_001277444.2:c.*350C>G, NM_001277444.2:c.*350C>A, NM_001277444.1:c.*350C>G, NM_001277444.1:c.*350C>A, XM_047420572.1:c.*350C>G, XM_047420572.1:c.*350C>A, NM_001388368.1:c.*350C>G, NM_001388368.1:c.*350C>A, NM_001388370.1:c.*350C>G, NM_001388370.1:c.*350C>A, NM_001388366.1:c.*350C>G, NM_001388366.1:c.*350C>A, NM_001388369.1:c.*350C>G, NM_001388369.1:c.*350C>A, NM_001388371.1:c.*350C>G, NM_001388371.1:c.*350C>A, NM_001388367.1:c.*350C>G, NM_001388367.1:c.*350C>A, NM_001388376.1:c.*350C>G, NM_001388376.1:c.*350C>A, NM_001388373.1:c.*350C>G, NM_001388373.1:c.*350C>A, NM_001388379.1:c.*350C>G, NM_001388379.1:c.*350C>A, NM_001388381.1:c.*350C>G, NM_001388381.1:c.*350C>A, NM_001388378.1:c.*350C>G, NM_001388378.1:c.*350C>A, NM_001388375.1:c.*350C>G, NM_001388375.1:c.*350C>A, NM_001388372.1:c.*350C>G, NM_001388372.1:c.*350C>A, NM_001388377.1:c.*350C>G, NM_001388377.1:c.*350C>A, NM_001388384.1:c.*350C>G, NM_001388384.1:c.*350C>A, NM_001388374.1:c.*350C>G, NM_001388374.1:c.*350C>A, NM_001388382.1:c.*350C>G, NM_001388382.1:c.*350C>A, NM_001388383.1:c.*350C>G, NM_001388383.1:c.*350C>A

Select item 149084012717.

rs1490840127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:149063972 (GRCh38)
1:144823646 (GRCh37)
Canonical SPDI:: NC_000001.11:149063971:T:C
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.149063972T>C, NW_003871055.3:g.5879385T>C, NC_000001.10:g.144823646A>G

Select item 149070579818.

rs1490705798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:149064230 (GRCh38)
1:144823380 (GRCh37)
Canonical SPDI:: NC_000001.11:149064229:C:G
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.149064230C>G, NW_003871055.3:g.5879643C>G, NC_000001.10:g.144823380G>C

Select item 149069410419.

rs1490694104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:149073422 (GRCh38)
1:144814190 (GRCh37)
Canonical SPDI:: NC_000001.11:149073421:G:A,NC_000001.11:149073421:G:T
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000061/8 (GnomAD)
HGVS:: NC_000001.11:g.149073422G>A, NC_000001.11:g.149073422G>T, NW_003871055.3:g.5888835G>A, NW_003871055.3:g.5888835G>T, NC_000001.10:g.144814190C>T, NC_000001.10:g.144814190C>A

Select item 149066861620.

rs1490668616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:149089926 (GRCh38)
1:144607340 (GRCh37)
Canonical SPDI:: NC_000001.11:149089925:G:A,NC_000001.11:149089925:G:T
Gene:: NBPF9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000212/6 (TOMMO)
A=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.149089926G>A, NC_000001.11:g.149089926G>T, NW_003871055.3:g.5905339G>A, NW_003871055.3:g.5905339G>T, NC_000001.10:g.144607340C>T, NC_000001.10:g.144607340C>A, NW_025791753.1:g.46056C>T, NW_025791753.1:g.46056C>A

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