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Select item 14915760051.

rs1491576005 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:43715728 (GRCh38)
17:41793096 (GRCh37)
Canonical SPDI:: NC_000017.11:43715722:CTCTCTC:CTCTC
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTC=0.000142/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000017.11:g.43715724TC[2], NC_000017.10:g.41793092TC[2], NG_008078.2:g.48061AG[2]

Select item 14914693592.

rs1491469359 has merged into rs10524661 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:43712240 (GRCh38)
17:41789608 (GRCh37)
Canonical SPDI:: NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43712230:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.43712240_43712257del, NC_000017.11:g.43712242_43712257del, NC_000017.11:g.43712244_43712257del, NC_000017.11:g.43712245_43712257del, NC_000017.11:g.43712246_43712257del, NC_000017.11:g.43712247_43712257del, NC_000017.11:g.43712248_43712257del, NC_000017.11:g.43712249_43712257del, NC_000017.11:g.43712250_43712257del, NC_000017.11:g.43712251_43712257del, NC_000017.11:g.43712252_43712257del, NC_000017.11:g.43712253_43712257del, NC_000017.11:g.43712254_43712257del, NC_000017.11:g.43712255_43712257del, NC_000017.11:g.43712256_43712257del, NC_000017.11:g.43712257del, NC_000017.11:g.43712257dup, NC_000017.11:g.43712256_43712257dup, NC_000017.11:g.43712255_43712257dup, NC_000017.11:g.43712252_43712257dup, NC_000017.11:g.43712244_43712257dup, NC_000017.10:g.41789608_41789625del, NC_000017.10:g.41789610_41789625del, NC_000017.10:g.41789612_41789625del, NC_000017.10:g.41789613_41789625del, NC_000017.10:g.41789614_41789625del, NC_000017.10:g.41789615_41789625del, NC_000017.10:g.41789616_41789625del, NC_000017.10:g.41789617_41789625del, NC_000017.10:g.41789618_41789625del, NC_000017.10:g.41789619_41789625del, NC_000017.10:g.41789620_41789625del, NC_000017.10:g.41789621_41789625del, NC_000017.10:g.41789622_41789625del, NC_000017.10:g.41789623_41789625del, NC_000017.10:g.41789624_41789625del, NC_000017.10:g.41789625del, NC_000017.10:g.41789625dup, NC_000017.10:g.41789624_41789625dup, NC_000017.10:g.41789623_41789625dup, NC_000017.10:g.41789620_41789625dup, NC_000017.10:g.41789612_41789625dup, NG_008078.2:g.51541_51558del, NG_008078.2:g.51543_51558del, NG_008078.2:g.51545_51558del, NG_008078.2:g.51546_51558del, NG_008078.2:g.51547_51558del, NG_008078.2:g.51548_51558del, NG_008078.2:g.51549_51558del, NG_008078.2:g.51550_51558del, NG_008078.2:g.51551_51558del, NG_008078.2:g.51552_51558del, NG_008078.2:g.51553_51558del, NG_008078.2:g.51554_51558del, NG_008078.2:g.51555_51558del, NG_008078.2:g.51556_51558del, NG_008078.2:g.51557_51558del, NG_008078.2:g.51558del, NG_008078.2:g.51558dup, NG_008078.2:g.51557_51558dup, NG_008078.2:g.51556_51558dup, NG_008078.2:g.51553_51558dup, NG_008078.2:g.51545_51558dup

Select item 14914603233.

rs1491460323 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:43712230 (GRCh38)
17:41789598 (GRCh37)
Canonical SPDI:: NC_000017.11:43712229:TA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00346/41 (ALFA)
-=0.00011/3 (TOMMO)
-=0.00059/1 (Korea1K)
HGVS:: NC_000017.11:g.43712230_43712231del, NC_000017.10:g.41789598_41789599del, NG_008078.2:g.51558_51559del

Select item 14913841804.

rs1491384180 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:43712229 (GRCh38)
17:41789597 (GRCh37)
Canonical SPDI:: NC_000017.11:43712228:GT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.43712229_43712230del, NC_000017.10:g.41789597_41789598del, NG_008078.2:g.51559_51560del

Select item 14913430695.

rs1491343069 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:43757129 (GRCh38)
17:41834497 (GRCh37)
Canonical SPDI:: NC_000017.11:43757128:AG:
Gene:: SOST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.43757129_43757130del, NC_000017.10:g.41834497_41834498del, NG_008078.2:g.6659_6660del

Select item 14913308026.

rs1491330802 has merged into rs57338399 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 17:43742844 (GRCh38)
17:41820212 (GRCh37)
Canonical SPDI:: NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:43742823:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACAC=0./0 (ALFA)
-=0.2802/1080 (ALSPAC)
HGVS:: NC_000017.11:g.43742824AC[10], NC_000017.11:g.43742824AC[12], NC_000017.11:g.43742824AC[13], NC_000017.11:g.43742824AC[14], NC_000017.11:g.43742824AC[15], NC_000017.11:g.43742824AC[16], NC_000017.11:g.43742824AC[17], NC_000017.11:g.43742824AC[18], NC_000017.11:g.43742824AC[19], NC_000017.11:g.43742824AC[20], NC_000017.11:g.43742824AC[21], NC_000017.11:g.43742824AC[23], NC_000017.11:g.43742824AC[24], NC_000017.11:g.43742824AC[25], NC_000017.11:g.43742824AC[26], NC_000017.11:g.43742824AC[27], NC_000017.11:g.43742824AC[28], NC_000017.11:g.43742824AC[29], NC_000017.11:g.43742824AC[30], NC_000017.11:g.43742824AC[34], NC_000017.10:g.41820192AC[10], NC_000017.10:g.41820192AC[12], NC_000017.10:g.41820192AC[13], NC_000017.10:g.41820192AC[14], NC_000017.10:g.41820192AC[15], NC_000017.10:g.41820192AC[16], NC_000017.10:g.41820192AC[17], NC_000017.10:g.41820192AC[18], NC_000017.10:g.41820192AC[19], NC_000017.10:g.41820192AC[20], NC_000017.10:g.41820192AC[21], NC_000017.10:g.41820192AC[23], NC_000017.10:g.41820192AC[24], NC_000017.10:g.41820192AC[25], NC_000017.10:g.41820192AC[26], NC_000017.10:g.41820192AC[27], NC_000017.10:g.41820192AC[28], NC_000017.10:g.41820192AC[29], NC_000017.10:g.41820192AC[30], NC_000017.10:g.41820192AC[34], NG_008078.2:g.20922GT[10], NG_008078.2:g.20922GT[12], NG_008078.2:g.20922GT[13], NG_008078.2:g.20922GT[14], NG_008078.2:g.20922GT[15], NG_008078.2:g.20922GT[16], NG_008078.2:g.20922GT[17], NG_008078.2:g.20922GT[18], NG_008078.2:g.20922GT[19], NG_008078.2:g.20922GT[20], NG_008078.2:g.20922GT[21], NG_008078.2:g.20922GT[23], NG_008078.2:g.20922GT[24], NG_008078.2:g.20922GT[25], NG_008078.2:g.20922GT[26], NG_008078.2:g.20922GT[27], NG_008078.2:g.20922GT[28], NG_008078.2:g.20922GT[29], NG_008078.2:g.20922GT[30], NG_008078.2:g.20922GT[34]

Select item 14913016127.

rs1491301612 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:43712229 (GRCh38)
17:41789598 (GRCh37)
Canonical SPDI:: NC_000017.11:43712229:T:TT
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000017.11:g.43712230dup, NC_000017.10:g.41789598dup, NG_008078.2:g.51559dup

Select item 14911014228.

rs1491101422 has merged into rs5820508 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:43731749 (GRCh38)
17:41809117 (GRCh37)
Canonical SPDI:: NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43731742:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.4171/2089 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000017.11:g.43731749_43731758del, NC_000017.11:g.43731751_43731758del, NC_000017.11:g.43731752_43731758del, NC_000017.11:g.43731753_43731758del, NC_000017.11:g.43731754_43731758del, NC_000017.11:g.43731755_43731758del, NC_000017.11:g.43731756_43731758del, NC_000017.11:g.43731757_43731758del, NC_000017.11:g.43731758del, NC_000017.11:g.43731758dup, NC_000017.11:g.43731757_43731758dup, NC_000017.11:g.43731756_43731758dup, NC_000017.11:g.43731755_43731758dup, NC_000017.11:g.43731754_43731758dup, NC_000017.11:g.43731753_43731758dup, NC_000017.11:g.43731752_43731758dup, NC_000017.11:g.43731751_43731758dup, NC_000017.11:g.43731750_43731758dup, NC_000017.11:g.43731747_43731758dup, NC_000017.11:g.43731745_43731758dup, NC_000017.11:g.43731758_43731759insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.41809117_41809126del, NC_000017.10:g.41809119_41809126del, NC_000017.10:g.41809120_41809126del, NC_000017.10:g.41809121_41809126del, NC_000017.10:g.41809122_41809126del, NC_000017.10:g.41809123_41809126del, NC_000017.10:g.41809124_41809126del, NC_000017.10:g.41809125_41809126del, NC_000017.10:g.41809126del, NC_000017.10:g.41809126dup, NC_000017.10:g.41809125_41809126dup, NC_000017.10:g.41809124_41809126dup, NC_000017.10:g.41809123_41809126dup, NC_000017.10:g.41809122_41809126dup, NC_000017.10:g.41809121_41809126dup, NC_000017.10:g.41809120_41809126dup, NC_000017.10:g.41809119_41809126dup, NC_000017.10:g.41809118_41809126dup, NC_000017.10:g.41809115_41809126dup, NC_000017.10:g.41809113_41809126dup, NC_000017.10:g.41809126_41809127insTTTTTTTTTTTTTTTTTTTTT, NG_008078.2:g.32037_32046del, NG_008078.2:g.32039_32046del, NG_008078.2:g.32040_32046del, NG_008078.2:g.32041_32046del, NG_008078.2:g.32042_32046del, NG_008078.2:g.32043_32046del, NG_008078.2:g.32044_32046del, NG_008078.2:g.32045_32046del, NG_008078.2:g.32046del, NG_008078.2:g.32046dup, NG_008078.2:g.32045_32046dup, NG_008078.2:g.32044_32046dup, NG_008078.2:g.32043_32046dup, NG_008078.2:g.32042_32046dup, NG_008078.2:g.32041_32046dup, NG_008078.2:g.32040_32046dup, NG_008078.2:g.32039_32046dup, NG_008078.2:g.32038_32046dup, NG_008078.2:g.32035_32046dup, NG_008078.2:g.32033_32046dup, NG_008078.2:g.32046_32047insAAAAAAAAAAAAAAAAAAAAA

Select item 14910284359.

rs1491028435 has merged into rs34751252 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:43762368 (GRCh38)
17:41839736 (GRCh37)
Canonical SPDI:: NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43762360:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.3904/1955 (1000Genomes)
HGVS:: NC_000017.11:g.43762368_43762374del, NC_000017.11:g.43762369_43762374del, NC_000017.11:g.43762372_43762374del, NC_000017.11:g.43762373_43762374del, NC_000017.11:g.43762374del, NC_000017.11:g.43762374dup, NC_000017.11:g.43762373_43762374dup, NC_000017.11:g.43762372_43762374dup, NC_000017.11:g.43762369_43762374dup, NC_000017.11:g.43762367_43762374dup, NC_000017.11:g.43762365_43762374dup, NC_000017.11:g.43762364_43762374dup, NC_000017.11:g.43762363_43762374dup, NC_000017.11:g.43762362_43762374dup, NC_000017.10:g.41839736_41839742del, NC_000017.10:g.41839737_41839742del, NC_000017.10:g.41839740_41839742del, NC_000017.10:g.41839741_41839742del, NC_000017.10:g.41839742del, NC_000017.10:g.41839742dup, NC_000017.10:g.41839741_41839742dup, NC_000017.10:g.41839740_41839742dup, NC_000017.10:g.41839737_41839742dup, NC_000017.10:g.41839735_41839742dup, NC_000017.10:g.41839733_41839742dup, NC_000017.10:g.41839732_41839742dup, NC_000017.10:g.41839731_41839742dup, NC_000017.10:g.41839730_41839742dup, NG_008078.2:g.1422_1428del, NG_008078.2:g.1423_1428del, NG_008078.2:g.1426_1428del, NG_008078.2:g.1427_1428del, NG_008078.2:g.1428del, NG_008078.2:g.1428dup, NG_008078.2:g.1427_1428dup, NG_008078.2:g.1426_1428dup, NG_008078.2:g.1423_1428dup, NG_008078.2:g.1421_1428dup, NG_008078.2:g.1419_1428dup, NG_008078.2:g.1418_1428dup, NG_008078.2:g.1417_1428dup, NG_008078.2:g.1416_1428dup

Select item 149102642310.

rs1491026423 has merged into rs57696200 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:43716788 (GRCh38)
17:41794156 (GRCh37)
Canonical SPDI:: NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43716776:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.43716788_43716794del, NC_000017.11:g.43716790_43716794del, NC_000017.11:g.43716792_43716794del, NC_000017.11:g.43716793_43716794del, NC_000017.11:g.43716794del, NC_000017.11:g.43716794dup, NC_000017.11:g.43716793_43716794dup, NC_000017.11:g.43716792_43716794dup, NC_000017.11:g.43716791_43716794dup, NC_000017.10:g.41794156_41794162del, NC_000017.10:g.41794158_41794162del, NC_000017.10:g.41794160_41794162del, NC_000017.10:g.41794161_41794162del, NC_000017.10:g.41794162del, NC_000017.10:g.41794162dup, NC_000017.10:g.41794161_41794162dup, NC_000017.10:g.41794160_41794162dup, NC_000017.10:g.41794159_41794162dup, NG_008078.2:g.47006_47012del, NG_008078.2:g.47008_47012del, NG_008078.2:g.47010_47012del, NG_008078.2:g.47011_47012del, NG_008078.2:g.47012del, NG_008078.2:g.47012dup, NG_008078.2:g.47011_47012dup, NG_008078.2:g.47010_47012dup, NG_008078.2:g.47009_47012dup

Select item 149100861211.

rs1491008612 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:43762248 (GRCh38)
17:41839616 (GRCh37)
Canonical SPDI:: NC_000017.11:43762247:AG:
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000017.11:g.43762248_43762249del, NC_000017.10:g.41839616_41839617del, NG_008078.2:g.1540_1541del

Select item 149097247712.

rs1490972477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43736543 (GRCh38)
17:41813911 (GRCh37)
Canonical SPDI:: NC_000017.11:43736542:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.43736543T>C, NC_000017.10:g.41813911T>C, NG_008078.2:g.27246A>G

Select item 149094098113.

rs1490940981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43734034 (GRCh38)
17:41811402 (GRCh37)
Canonical SPDI:: NC_000017.11:43734033:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43734034C>T, NC_000017.10:g.41811402C>T, NG_008078.2:g.29755G>A

Select item 149085438114.

rs1490854381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43711539 (GRCh38)
17:41788907 (GRCh37)
Canonical SPDI:: NC_000017.11:43711538:T:C
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43711539T>C, NC_000017.10:g.41788907T>C, NG_008078.2:g.52250A>G

Select item 149076292615.

rs1490762926 has merged into rs1238603057 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 17:43751425 (GRCh38)
17:41828793 (GRCh37)
Canonical SPDI:: NC_000017.11:43751415:AGAGAGAGAGA:AGAGAGAGA,NC_000017.11:43751415:AGAGAGAGAGA:AGAGAGAGAGAGA
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.43751417GA[4], NC_000017.11:g.43751417GA[6], NC_000017.10:g.41828785GA[4], NC_000017.10:g.41828785GA[6], NG_008078.2:g.12364CT[4], NG_008078.2:g.12364CT[6]

Select item 149074828016.

rs1490748280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:43717927 (GRCh38)
17:41795295 (GRCh37)
Canonical SPDI:: NC_000017.11:43717926:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.43717927C>A, NC_000017.10:g.41795295C>A, NG_008078.2:g.45862G>T

Select item 149071518417.

rs1490715184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:43734101 (GRCh38)
17:41811469 (GRCh37)
Canonical SPDI:: NC_000017.11:43734100:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43734101A>G, NC_000017.10:g.41811469A>G, NG_008078.2:g.29688T>C

Select item 149068929418.

rs1490689294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:43735311 (GRCh38)
17:41812679 (GRCh37)
Canonical SPDI:: NC_000017.11:43735310:G:C,NC_000017.11:43735310:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.43735311G>C, NC_000017.11:g.43735311G>T, NC_000017.10:g.41812679G>C, NC_000017.10:g.41812679G>T, NG_008078.2:g.28478C>G, NG_008078.2:g.28478C>A

Select item 149050624819.

rs1490506248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:43725509 (GRCh38)
17:41802877 (GRCh37)
Canonical SPDI:: NC_000017.11:43725508:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43725509C>G, NC_000017.10:g.41802877C>G, NG_008078.2:g.38280G>C

Select item 149046313920.

rs1490463139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43741605 (GRCh38)
17:41818973 (GRCh37)
Canonical SPDI:: NC_000017.11:43741604:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43741605C>T, NC_000017.10:g.41818973C>T, NG_008078.2:g.22184G>A

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