SNP Links for Nucleotide (Select 664806118) - SNP

Links from Nucleotide

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Select item 14915810101.

rs1491581010 has merged into rs765001592 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG,CGCGCG [Show Flanks]
Chromosome:: 17:69293873 (GRCh38)
17:67290014 (GRCh37)
Canonical SPDI:: NC_000017.11:69293871:GCG:G,NC_000017.11:69293871:GCG:GCGCG,NC_000017.11:69293871:GCG:GCGCGCG
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
-=0.0602/232 (ALSPAC)
-=0.0685/254 (TWINSUK)
-=0.1213/2003 (TOMMO)
-=0.175/7 (GENOME_DK)
-=0.3413/200 (NorthernSweden)
HGVS:: NC_000017.11:g.69293873_69293874del, NC_000017.11:g.69293873_69293874dup, NC_000017.11:g.69293873CG[3], NC_000017.10:g.67290014_67290015del, NC_000017.10:g.67290014_67290015dup, NC_000017.10:g.67290014CG[3], NG_034199.1:g.38310_38311del, NG_034199.1:g.38310_38311dup, NG_034199.1:g.38310GC[3]

Select item 14915713812.

rs1491571381 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:69317399 (GRCh38)
17:67313540 (GRCh37)
Canonical SPDI:: NC_000017.11:69317398:CA:
Gene:: ABCA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000017.11:g.69317399_69317400del, NC_000017.10:g.67313540_67313541del, NG_034199.1:g.14783_14784del

Select item 14915145603.

rs1491514560 has merged into rs1421146542 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATACATATATATATACACATACATATATATATAT,ATATACATATATATATATACACATACATATATATATATAT,ATATACATATATATATATATACATACATATATATATATACATATATATATACACATACATATATATATAT,ATATAT,ATATATACATATATATATACATACATATATATATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 17:69303854 (GRCh38)
17:67299995 (GRCh37)
Canonical SPDI:: NC_000017.11:69303845:ATATATATAT:ATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATACATATATATATACACATACATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATACATATATATATATACACATACATATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATACATATATATATATATACATACATATATATATATACATATATATATACACATACATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATATACATATATATATACATACATATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATATATAT,NC_000017.11:69303845:ATATATATAT:ATATATATATATATATATAT
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.69303846AT[4], NC_000017.11:g.69303846AT[6], NC_000017.11:g.69303846_69303855AT[6]ACATATATATATACACATACATATATATATAT[1], NC_000017.11:g.69303846_69303855ATATATATATATAC[2]ACAT[2]AT[6], NC_000017.11:g.69303846_69303855ATATATATATATACAT[2]ACATATATATATATACATATATATATACACATACATATATATATAT[1], NC_000017.11:g.69303846AT[7], NC_000017.11:g.69303846_69303855AT[7]ACATATATATATACATACATATATATATATAT[1], NC_000017.11:g.69303846AT[8], NC_000017.11:g.69303846AT[9], NC_000017.11:g.69303846AT[10], NC_000017.10:g.67299987AT[4], NC_000017.10:g.67299987AT[6], NC_000017.10:g.67299987_67299996AT[6]ACATATATATATACACATACATATATATATAT[1], NC_000017.10:g.67299987_67299996ATATATATATATAC[2]ACAT[2]AT[6], NC_000017.10:g.67299987_67299996ATATATATATATACAT[2]ACATATATATATATACATATATATATACACATACATATATATATAT[1], NC_000017.10:g.67299987AT[7], NC_000017.10:g.67299987_67299996AT[7]ACATATATATATACATACATATATATATATAT[1], NC_000017.10:g.67299987AT[8], NC_000017.10:g.67299987AT[9], NC_000017.10:g.67299987AT[10], NG_034199.1:g.28328AT[4], NG_034199.1:g.28328AT[6], NG_034199.1:g.28328_28337AT[6]GTATGTGTATATATATATGTATATATATATAT[1], NG_034199.1:g.28328_28337AT[7]GTATGTGTATATATATATATGTATATATATATAT[1], NG_034199.1:g.28328_28337AT[6]GTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTATATATATATAT[1], NG_034199.1:g.28328AT[7], NG_034199.1:g.28328_28337AT[7]GTAT[2]AT[4]GTATATATATATATAT[1], NG_034199.1:g.28328AT[8], NG_034199.1:g.28328AT[9], NG_034199.1:g.28328AT[10]

Select item 14914927194.

rs1491492719 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,AC,ACAC,ACACAC,ACACACATAC,ACATAC,ATAC,ATACACAC,ATACACACATAC,ATACATAC,ATATAC [Show Flanks]
Chromosome:: 17:69303825 (GRCh38)
17:67299967 (GRCh37)
Canonical SPDI:: NC_000017.11:69303825::AA,NC_000017.11:69303825::AC,NC_000017.11:69303825::ACAC,NC_000017.11:69303825::ACACAC,NC_000017.11:69303825::ACACACATAC,NC_000017.11:69303825::ACATAC,NC_000017.11:69303825::ATAC,NC_000017.11:69303825::ATACACAC,NC_000017.11:69303825::ATACACACATAC,NC_000017.11:69303825::ATACATAC,NC_000017.11:69303825::ATATAC
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
HGVS:: NC_000017.11:g.69303825_69303826insAA, NC_000017.11:g.69303825_69303826insAC, NC_000017.11:g.69303825_69303826insACAC, NC_000017.11:g.69303825_69303826insACACAC, NC_000017.11:g.69303825_69303826insACACACATAC, NC_000017.11:g.69303825_69303826insACATAC, NC_000017.11:g.69303825_69303826insATAC, NC_000017.11:g.69303825_69303826insATACACAC, NC_000017.11:g.69303825_69303826insATACACACATAC, NC_000017.11:g.69303825_69303826insATACATAC, NC_000017.11:g.69303825_69303826insATATAC, NC_000017.10:g.67299966_67299967insAA, NC_000017.10:g.67299966_67299967insAC, NC_000017.10:g.67299966_67299967insACAC, NC_000017.10:g.67299966_67299967insACACAC, NC_000017.10:g.67299966_67299967insACACACATAC, NC_000017.10:g.67299966_67299967insACATAC, NC_000017.10:g.67299966_67299967insATAC, NC_000017.10:g.67299966_67299967insATACACAC, NC_000017.10:g.67299966_67299967insATACACACATAC, NC_000017.10:g.67299966_67299967insATACATAC, NC_000017.10:g.67299966_67299967insATATAC, NG_034199.1:g.28357_28358insTT, NG_034199.1:g.28357_28358insGT, NG_034199.1:g.28357_28358insGTGT, NG_034199.1:g.28357_28358insGTGTGT, NG_034199.1:g.28357_28358insGTATGTGTGT, NG_034199.1:g.28357_28358insGTATGT, NG_034199.1:g.28357_28358insGTAT, NG_034199.1:g.28357_28358insGTGTGTAT, NG_034199.1:g.28357_28358insGTATGTGTGTAT, NG_034199.1:g.28357_28358insGTATGTAT, NG_034199.1:g.28357_28358insGTATAT

Select item 14914558605.

rs1491455860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:69281044 (GRCh38)
17:67277186 (GRCh37)
Canonical SPDI:: NC_000017.11:69281044:T:TT
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.69281045dup, NC_000017.10:g.67277186dup, NG_034199.1:g.51138dup

Select item 14914507306.

rs1491450730 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:69293885 (GRCh38)
17:67290027 (GRCh37)
Canonical SPDI:: NC_000017.11:69293885::G
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00172/3 (Korea1K)
G=0.00313/49 (TOMMO)
HGVS:: NC_000017.11:g.69293885_69293886insG, NC_000017.10:g.67290026_67290027insG, NG_034199.1:g.38297_38298insC

Select item 14914223577.

rs1491422357 has merged into rs1478906854 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 17:69303856 (GRCh38)
17:67299997 (GRCh37)
Canonical SPDI:: NC_000017.11:69303854:TGT:T,NC_000017.11:69303854:TGT:TGTGT
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.00606/2 (NorthernSweden)
-=0.01273/11 (Korea1K)
-=0.01712/164 (TOMMO)
HGVS:: NC_000017.11:g.69303856_69303857del, NC_000017.11:g.69303856_69303857dup, NC_000017.10:g.67299997_67299998del, NC_000017.10:g.67299997_67299998dup, NG_034199.1:g.28327_28328del, NG_034199.1:g.28327_28328dup

Select item 14912875798.

rs1491287579 has merged into rs1400825300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT [Show Flanks]
Chromosome:: 17:69303820 (GRCh38)
17:67299961 (GRCh37)
Canonical SPDI:: NC_000017.11:69303813:ATATATATATAT:ATATAT,NC_000017.11:69303813:ATATATATATAT:ATATATATAT,NC_000017.11:69303813:ATATATATATAT:ATATATATATATAT
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.69303814AT[3], NC_000017.11:g.69303814AT[5], NC_000017.11:g.69303814AT[7], NC_000017.10:g.67299955AT[3], NC_000017.10:g.67299955AT[5], NC_000017.10:g.67299955AT[7], NG_034199.1:g.28358AT[3], NG_034199.1:g.28358AT[5], NG_034199.1:g.28358AT[7]

Select item 14912703669.

rs1491270366 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:69263354 (GRCh38)
17:67259495 (GRCh37)
Canonical SPDI:: NC_000017.11:69263351:TATA:TA
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.69263352TA[1], NC_000017.10:g.67259493TA[1], NG_034199.1:g.68828TA[1]

Select item 149126402210.

rs1491264022 has merged into rs71144668 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:69282772 (GRCh38)
17:67278913 (GRCh37)
Canonical SPDI:: NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:69282765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.1858/716 (ALSPAC)
HGVS:: NC_000017.11:g.69282772_69282783del, NC_000017.11:g.69282774_69282783del, NC_000017.11:g.69282779_69282783del, NC_000017.11:g.69282780_69282783del, NC_000017.11:g.69282781_69282783del, NC_000017.11:g.69282782_69282783del, NC_000017.11:g.69282783del, NC_000017.11:g.69282783dup, NC_000017.11:g.69282782_69282783dup, NC_000017.11:g.69282773_69282783dup, NC_000017.10:g.67278913_67278924del, NC_000017.10:g.67278915_67278924del, NC_000017.10:g.67278920_67278924del, NC_000017.10:g.67278921_67278924del, NC_000017.10:g.67278922_67278924del, NC_000017.10:g.67278923_67278924del, NC_000017.10:g.67278924del, NC_000017.10:g.67278924dup, NC_000017.10:g.67278923_67278924dup, NC_000017.10:g.67278914_67278924dup, NG_034199.1:g.49406_49417del, NG_034199.1:g.49408_49417del, NG_034199.1:g.49413_49417del, NG_034199.1:g.49414_49417del, NG_034199.1:g.49415_49417del, NG_034199.1:g.49416_49417del, NG_034199.1:g.49417del, NG_034199.1:g.49417dup, NG_034199.1:g.49416_49417dup, NG_034199.1:g.49407_49417dup

Select item 149121239711.

rs1491212397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACATACA,CACACATATATATATACATACA,CACATACA,CACATATATATATACATACA,CATACA [Show Flanks]
Chromosome:: 17:69303827 (GRCh38)
17:67299969 (GRCh37)
Canonical SPDI:: NC_000017.11:69303827:A:ACA,NC_000017.11:69303827:A:ACACA,NC_000017.11:69303827:A:ACACACA,NC_000017.11:69303827:A:ACACACATACA,NC_000017.11:69303827:A:ACACACATATATATATACATACA,NC_000017.11:69303827:A:ACACATACA,NC_000017.11:69303827:A:ACACATATATATATACATACA,NC_000017.11:69303827:A:ACATACA
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
ACACACATATATATATACATAC=0.00847/2 (NorthernSweden)
HGVS:: NC_000017.11:g.69303828_69303829insCA, NC_000017.11:g.69303828_69303829insCACA, NC_000017.11:g.69303829CA[3], NC_000017.11:g.69303828AC[3]ATACA[1], NC_000017.11:g.69303828AC[3]AT[5]ACATACA[1], NC_000017.11:g.69303828AC[2]ATACA[1], NC_000017.11:g.69303828AC[2]AT[5]ACATACA[1], NC_000017.11:g.69303828_69303829insCATACA, NC_000017.10:g.67299969_67299970insCA, NC_000017.10:g.67299969_67299970insCACA, NC_000017.10:g.67299970CA[3], NC_000017.10:g.67299969AC[3]ATACA[1], NC_000017.10:g.67299969AC[3]AT[5]ACATACA[1], NC_000017.10:g.67299969AC[2]ATACA[1], NC_000017.10:g.67299969AC[2]AT[5]ACATACA[1], NC_000017.10:g.67299969_67299970insCATACA, NG_034199.1:g.28355_28356insGT, NG_034199.1:g.28355_28356insGTGT, NG_034199.1:g.28356GT[3], NG_034199.1:g.28355_28356insGTATGTGTGT, NG_034199.1:g.28355TGTA[2]TA[4]TG[3]T[1], NG_034199.1:g.28355_28356insGTATGTGT, NG_034199.1:g.28355TGTA[2]TA[4]TG[2]T[1], NG_034199.1:g.28355_28356insGTATGT

Select item 149119628512.

rs1491196285 has merged into rs370723233 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 17:69303839 (GRCh38)
17:67299980 (GRCh37)
Canonical SPDI:: NC_000017.11:69303826:TATATATATATATA:TATATATATATA,NC_000017.11:69303826:TATATATATATATA:TATATATATATATATA
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.69303827TA[6], NC_000017.11:g.69303827TA[8], NC_000017.10:g.67299968TA[6], NC_000017.10:g.67299968TA[8], NG_034199.1:g.28343TA[6], NG_034199.1:g.28343TA[8]

Select item 149118386813.

rs1491183868 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:69263352 (GRCh38)
17:67259494 (GRCh37)
Canonical SPDI:: NC_000017.11:69263352:A:AA
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000057/8 (GnomAD)
A=0.000091/24 (TOPMED)
HGVS:: NC_000017.11:g.69263353dup, NC_000017.10:g.67259494dup, NG_034199.1:g.68830dup

Select item 149117976414.

rs1491179764 has merged into rs11320196 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:69325151 (GRCh38)
17:67321292 (GRCh37)
Canonical SPDI:: NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69325141:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.4188/1614 (ALSPAC)
HGVS:: NC_000017.11:g.69325151_69325160del, NC_000017.11:g.69325152_69325160del, NC_000017.11:g.69325153_69325160del, NC_000017.11:g.69325154_69325160del, NC_000017.11:g.69325155_69325160del, NC_000017.11:g.69325156_69325160del, NC_000017.11:g.69325157_69325160del, NC_000017.11:g.69325158_69325160del, NC_000017.11:g.69325159_69325160del, NC_000017.11:g.69325160del, NC_000017.11:g.69325160dup, NC_000017.11:g.69325159_69325160dup, NC_000017.11:g.69325158_69325160dup, NC_000017.11:g.69325157_69325160dup, NC_000017.11:g.69325150_69325160dup, NC_000017.10:g.67321292_67321301del, NC_000017.10:g.67321293_67321301del, NC_000017.10:g.67321294_67321301del, NC_000017.10:g.67321295_67321301del, NC_000017.10:g.67321296_67321301del, NC_000017.10:g.67321297_67321301del, NC_000017.10:g.67321298_67321301del, NC_000017.10:g.67321299_67321301del, NC_000017.10:g.67321300_67321301del, NC_000017.10:g.67321301del, NC_000017.10:g.67321301dup, NC_000017.10:g.67321300_67321301dup, NC_000017.10:g.67321299_67321301dup, NC_000017.10:g.67321298_67321301dup, NC_000017.10:g.67321291_67321301dup, NG_034199.1:g.7032_7041del, NG_034199.1:g.7033_7041del, NG_034199.1:g.7034_7041del, NG_034199.1:g.7035_7041del, NG_034199.1:g.7036_7041del, NG_034199.1:g.7037_7041del, NG_034199.1:g.7038_7041del, NG_034199.1:g.7039_7041del, NG_034199.1:g.7040_7041del, NG_034199.1:g.7041del, NG_034199.1:g.7041dup, NG_034199.1:g.7040_7041dup, NG_034199.1:g.7039_7041dup, NG_034199.1:g.7038_7041dup, NG_034199.1:g.7031_7041dup

Select item 149116693515.

rs1491166935 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AC,ACATATATATATAC,ATAC [Show Flanks]
Chromosome:: 17:69303855 (GRCh38)
17:67299997 (GRCh37)
Canonical SPDI:: NC_000017.11:69303855::A,NC_000017.11:69303855::AA,NC_000017.11:69303855::AC,NC_000017.11:69303855::ACATATATATATAC,NC_000017.11:69303855::ATAC
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.48329/5350 (TOMMO)
HGVS:: NC_000017.11:g.69303855_69303856insA, NC_000017.11:g.69303855_69303856insAA, NC_000017.11:g.69303855_69303856insAC, NC_000017.11:g.69303855_69303856insACATATATATATAC, NC_000017.11:g.69303855_69303856insATAC, NC_000017.10:g.67299996_67299997insA, NC_000017.10:g.67299996_67299997insAA, NC_000017.10:g.67299996_67299997insAC, NC_000017.10:g.67299996_67299997insACATATATATATAC, NC_000017.10:g.67299996_67299997insATAC, NG_034199.1:g.28327_28328insT, NG_034199.1:g.28327_28328insTT, NG_034199.1:g.28327_28328insGT, NG_034199.1:g.28327_28328insGTATATATATATGT, NG_034199.1:g.28327_28328insGTAT

Select item 149116430016.

rs1491164300 has merged into rs1168274624 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:69317408 (GRCh38)
17:67313549 (GRCh37)
Canonical SPDI:: NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:69317399:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCA5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.69317408_69317422del, NC_000017.11:g.69317409_69317422del, NC_000017.11:g.69317410_69317422del, NC_000017.11:g.69317411_69317422del, NC_000017.11:g.69317412_69317422del, NC_000017.11:g.69317413_69317422del, NC_000017.11:g.69317414_69317422del, NC_000017.11:g.69317415_69317422del, NC_000017.11:g.69317416_69317422del, NC_000017.11:g.69317417_69317422del, NC_000017.11:g.69317419_69317422del, NC_000017.11:g.69317420_69317422del, NC_000017.11:g.69317421_69317422del, NC_000017.11:g.69317422del, NC_000017.11:g.69317422dup, NC_000017.11:g.69317421_69317422dup, NC_000017.11:g.69317420_69317422dup, NC_000017.11:g.69317419_69317422dup, NC_000017.11:g.69317418_69317422dup, NC_000017.11:g.69317417_69317422dup, NC_000017.11:g.69317414_69317422dup, NC_000017.11:g.69317411_69317422dup, NC_000017.11:g.69317410_69317422dup, NC_000017.10:g.67313549_67313563del, NC_000017.10:g.67313550_67313563del, NC_000017.10:g.67313551_67313563del, NC_000017.10:g.67313552_67313563del, NC_000017.10:g.67313553_67313563del, NC_000017.10:g.67313554_67313563del, NC_000017.10:g.67313555_67313563del, NC_000017.10:g.67313556_67313563del, NC_000017.10:g.67313557_67313563del, NC_000017.10:g.67313558_67313563del, NC_000017.10:g.67313560_67313563del, NC_000017.10:g.67313561_67313563del, NC_000017.10:g.67313562_67313563del, NC_000017.10:g.67313563del, NC_000017.10:g.67313563dup, NC_000017.10:g.67313562_67313563dup, NC_000017.10:g.67313561_67313563dup, NC_000017.10:g.67313560_67313563dup, NC_000017.10:g.67313559_67313563dup, NC_000017.10:g.67313558_67313563dup, NC_000017.10:g.67313555_67313563dup, NC_000017.10:g.67313552_67313563dup, NC_000017.10:g.67313551_67313563dup, NG_034199.1:g.14769_14783del, NG_034199.1:g.14770_14783del, NG_034199.1:g.14771_14783del, NG_034199.1:g.14772_14783del, NG_034199.1:g.14773_14783del, NG_034199.1:g.14774_14783del, NG_034199.1:g.14775_14783del, NG_034199.1:g.14776_14783del, NG_034199.1:g.14777_14783del, NG_034199.1:g.14778_14783del, NG_034199.1:g.14780_14783del, NG_034199.1:g.14781_14783del, NG_034199.1:g.14782_14783del, NG_034199.1:g.14783del, NG_034199.1:g.14783dup, NG_034199.1:g.14782_14783dup, NG_034199.1:g.14781_14783dup, NG_034199.1:g.14780_14783dup, NG_034199.1:g.14779_14783dup, NG_034199.1:g.14778_14783dup, NG_034199.1:g.14775_14783dup, NG_034199.1:g.14772_14783dup, NG_034199.1:g.14771_14783dup

Select item 149113622217.

rs1491136222 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 17:69303814 (GRCh38)
17:67299956 (GRCh37)
Canonical SPDI:: NC_000017.11:69303814::C,NC_000017.11:69303814::CC
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
CC=0.00016/1 (GnomAD)
HGVS:: NC_000017.11:g.69303814_69303815insC, NC_000017.11:g.69303814_69303815insCC, NC_000017.10:g.67299955_67299956insC, NC_000017.10:g.67299955_67299956insCC, NG_034199.1:g.28368_28369insG, NG_034199.1:g.28368_28369insGG

Select item 149112301018.

rs1491123010 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 17:69293886 (GRCh38)
17:67290027 (GRCh37)
Canonical SPDI:: NC_000017.11:69293884:TTT:T,NC_000017.11:69293884:TTT:TTTTT
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00064/8 (TOMMO)
-=0.00117/2 (Korea1K)
-=0.00131/87 (GnomAD)
HGVS:: NC_000017.11:g.69293886_69293887del, NC_000017.11:g.69293886_69293887dup, NC_000017.10:g.67290027_67290028del, NC_000017.10:g.67290027_67290028dup, NG_034199.1:g.38297_38298del, NG_034199.1:g.38297_38298dup

Select item 149111944519.

rs1491119445 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:69274838 (GRCh38)
17:67270980 (GRCh37)
Canonical SPDI:: NC_000017.11:69274838::TTTTT,NC_000017.11:69274838::TTTTTT,NC_000017.11:69274838::TTTTTTTTT,NC_000017.11:69274838::TTTTTTTTTT,NC_000017.11:69274838::TTTTTTTTTTTTTTT
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.69274838_69274839insTTTTT, NC_000017.11:g.69274838_69274839insTTTTTT, NC_000017.11:g.69274838_69274839insTTTTTTTTT, NC_000017.11:g.69274838_69274839insTTTTTTTTTT, NC_000017.11:g.69274838_69274839insTTTTTTTTTTTTTTT, NC_000017.10:g.67270979_67270980insTTTTT, NC_000017.10:g.67270979_67270980insTTTTTT, NC_000017.10:g.67270979_67270980insTTTTTTTTT, NC_000017.10:g.67270979_67270980insTTTTTTTTTT, NC_000017.10:g.67270979_67270980insTTTTTTTTTTTTTTT, NG_034199.1:g.57344_57345insAAAAA, NG_034199.1:g.57344_57345insAAAAAA, NG_034199.1:g.57344_57345insAAAAAAAAA, NG_034199.1:g.57344_57345insAAAAAAAAAA, NG_034199.1:g.57344_57345insAAAAAAAAAAAAAAA

Select item 149111032820.

rs1491110328 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:69303846 (GRCh38)
17:67299988 (GRCh37)
Canonical SPDI:: NC_000017.11:69303846::C
Gene:: ABCA5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.69303846_69303847insC, NC_000017.10:g.67299987_67299988insC, NG_034199.1:g.28336_28337insG

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