SNP Links for Nucleotide (Select 568815452) - SNP

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Select item 14915748871.

rs1491574887 has merged into rs767543901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:103205054 (GRCh38)
7:102845501 (GRCh37)
Canonical SPDI:: NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103205044:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DPY19L2P2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.103205054_103205061del, NC_000007.14:g.103205055_103205061del, NC_000007.14:g.103205058_103205061del, NC_000007.14:g.103205059_103205061del, NC_000007.14:g.103205060_103205061del, NC_000007.14:g.103205061del, NC_000007.14:g.103205061dup, NC_000007.14:g.103205060_103205061dup, NC_000007.14:g.103205059_103205061dup, NC_000007.14:g.103205055_103205061dup, NC_000007.14:g.103205054_103205061dup, NC_000007.14:g.103205053_103205061dup, NC_000007.14:g.103205052_103205061dup, NC_000007.14:g.103205050_103205061dup, NC_000007.14:g.103205046_103205061dup, NC_000007.13:g.102845501_102845508del, NC_000007.13:g.102845502_102845508del, NC_000007.13:g.102845505_102845508del, NC_000007.13:g.102845506_102845508del, NC_000007.13:g.102845507_102845508del, NC_000007.13:g.102845508del, NC_000007.13:g.102845508dup, NC_000007.13:g.102845507_102845508dup, NC_000007.13:g.102845506_102845508dup, NC_000007.13:g.102845502_102845508dup, NC_000007.13:g.102845501_102845508dup, NC_000007.13:g.102845500_102845508dup, NC_000007.13:g.102845499_102845508dup, NC_000007.13:g.102845497_102845508dup, NC_000007.13:g.102845493_102845508dup, NT_187559.1:g.37046_37053del, NT_187559.1:g.37047_37053del, NT_187559.1:g.37050_37053del, NT_187559.1:g.37051_37053del, NT_187559.1:g.37052_37053del, NT_187559.1:g.37053del, NT_187559.1:g.37053dup, NT_187559.1:g.37052_37053dup, NT_187559.1:g.37051_37053dup, NT_187559.1:g.37047_37053dup, NT_187559.1:g.37046_37053dup, NT_187559.1:g.37045_37053dup, NT_187559.1:g.37044_37053dup, NT_187559.1:g.37042_37053dup, NT_187559.1:g.37038_37053dup

Select item 14915722802.

rs1491572280 has merged into rs5886246 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 7:103113583 (GRCh38)
7:102754030 (GRCh37)
Canonical SPDI:: NC_000007.14:103113572:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:103113572:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:103113572:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:103113572:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:103113572:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: NAPEPLD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (TWINSUK)
T=0.00084/14 (TOMMO)
T=0.005/3 (NorthernSweden)
HGVS:: NC_000007.14:g.103113583_103113585del, NC_000007.14:g.103113584_103113585del, NC_000007.14:g.103113585del, NC_000007.14:g.103113585dup, NC_000007.14:g.103113584_103113585dup, NC_000007.13:g.102754030_102754032del, NC_000007.13:g.102754031_102754032del, NC_000007.13:g.102754032del, NC_000007.13:g.102754032dup, NC_000007.13:g.102754031_102754032dup, NT_187559.1:g.131154_131156del, NT_187559.1:g.131155_131156del, NT_187559.1:g.131156del, NT_187559.1:g.131156dup, NT_187559.1:g.131155_131156dup

Select item 14915564853.

rs1491556485 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:103129231 (GRCh38)
7:102769678 (GRCh37)
Canonical SPDI:: NC_000007.14:103129228:CACA:CA
Gene:: NAPEPLD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.103129229CA[1], NC_000007.13:g.102769676CA[1], NT_187559.1:g.115497TG[1]

Select item 14915297944.

rs1491529794 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:103125917 (GRCh38)
7:102766364 (GRCh37)
Canonical SPDI:: NC_000007.14:103125915:ATA:A
Gene:: NAPEPLD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001096/13 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.103125917_103125918del, NC_000007.13:g.102766364_102766365del, NT_187559.1:g.118812_118813del

Select item 14914902545.

rs1491490254 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:103086619 (GRCh38)
7:102727066 (GRCh37)
Canonical SPDI:: NC_000007.14:103086618:TC:
Gene:: ARMC10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/2 (ALFA)
HGVS:: NC_000007.14:g.103086619_103086620del, NC_000007.13:g.102727066_102727067del, NG_030014.1:g.16739_16740del, NT_187559.1:g.158109_158110del, XM_017012689.3:c.*2476_*2477del

Select item 14914680606.

rs1491468060 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:103228441 (GRCh38)
7:102868888 (GRCh37)
Canonical SPDI:: NC_000007.14:103228440:GC:
Gene:: DPY19L2P2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.103228441_103228442del, NC_000007.13:g.102868888_102868889del, NT_187559.1:g.13656_13657del

Select item 14914609487.

rs1491460948 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:103125916 (GRCh38)
7:102766364 (GRCh37)
Canonical SPDI:: NC_000007.14:103125916:T:TT
Gene:: NAPEPLD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.103125917dup, NC_000007.13:g.102766364dup, NT_187559.1:g.118812dup

Select item 14914411678.

rs1491441167 has merged into rs772073727 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:103092342 (GRCh38)
7:102732789 (GRCh37)
Canonical SPDI:: NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103092330:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ARMC10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.103092342_103092351del, NC_000007.14:g.103092343_103092351del, NC_000007.14:g.103092344_103092351del, NC_000007.14:g.103092346_103092351del, NC_000007.14:g.103092347_103092351del, NC_000007.14:g.103092348_103092351del, NC_000007.14:g.103092349_103092351del, NC_000007.14:g.103092350_103092351del, NC_000007.14:g.103092351del, NC_000007.14:g.103092351dup, NC_000007.14:g.103092350_103092351dup, NC_000007.14:g.103092349_103092351dup, NC_000007.14:g.103092348_103092351dup, NC_000007.14:g.103092347_103092351dup, NC_000007.13:g.102732789_102732798del, NC_000007.13:g.102732790_102732798del, NC_000007.13:g.102732791_102732798del, NC_000007.13:g.102732793_102732798del, NC_000007.13:g.102732794_102732798del, NC_000007.13:g.102732795_102732798del, NC_000007.13:g.102732796_102732798del, NC_000007.13:g.102732797_102732798del, NC_000007.13:g.102732798del, NC_000007.13:g.102732798dup, NC_000007.13:g.102732797_102732798dup, NC_000007.13:g.102732796_102732798dup, NC_000007.13:g.102732795_102732798dup, NC_000007.13:g.102732794_102732798dup, NG_030014.1:g.22462_22471del, NG_030014.1:g.22463_22471del, NG_030014.1:g.22464_22471del, NG_030014.1:g.22466_22471del, NG_030014.1:g.22467_22471del, NG_030014.1:g.22468_22471del, NG_030014.1:g.22469_22471del, NG_030014.1:g.22470_22471del, NG_030014.1:g.22471del, NG_030014.1:g.22471dup, NG_030014.1:g.22470_22471dup, NG_030014.1:g.22469_22471dup, NG_030014.1:g.22468_22471dup, NG_030014.1:g.22467_22471dup, NT_187559.1:g.152389_152398del, NT_187559.1:g.152390_152398del, NT_187559.1:g.152391_152398del, NT_187559.1:g.152393_152398del, NT_187559.1:g.152394_152398del, NT_187559.1:g.152395_152398del, NT_187559.1:g.152396_152398del, NT_187559.1:g.152397_152398del, NT_187559.1:g.152398del, NT_187559.1:g.152398dup, NT_187559.1:g.152397_152398dup, NT_187559.1:g.152396_152398dup, NT_187559.1:g.152395_152398dup, NT_187559.1:g.152394_152398dup

Select item 14913717819.

rs1491371781 has merged into rs879655662 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 7:103150905 (GRCh38)
7:102791352 (GRCh37)
Canonical SPDI:: NC_000007.14:103150894:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:103150894:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:103150894:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:103150894:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:103150894:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:103150894:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: NAPEPLD (Varview), LOC105375434 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.00057/9 (TOMMO)
HGVS:: NC_000007.14:g.103150905_103150909del, NC_000007.14:g.103150906_103150909del, NC_000007.14:g.103150907_103150909del, NC_000007.14:g.103150908_103150909del, NC_000007.14:g.103150909del, NC_000007.14:g.103150909dup, NC_000007.13:g.102791352_102791356del, NC_000007.13:g.102791353_102791356del, NC_000007.13:g.102791354_102791356del, NC_000007.13:g.102791355_102791356del, NC_000007.13:g.102791356del, NC_000007.13:g.102791356dup, NT_187559.1:g.93829_93833del, NT_187559.1:g.93830_93833del, NT_187559.1:g.93831_93833del, NT_187559.1:g.93832_93833del, NT_187559.1:g.93833del, NT_187559.1:g.93833dup

Select item 149137133710.

rs1491371337 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:103136605 (GRCh38)
7:102777053 (GRCh37)
Canonical SPDI:: NC_000007.14:103136605::G
Gene:: NAPEPLD (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000032/4 (GnomAD)
HGVS:: NC_000007.14:g.103136605_103136606insG, NC_000007.13:g.102777052_102777053insG, NT_187559.1:g.108127_108128insC

Select item 149136525111.

rs1491365251 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAGACAGAGTCTCACTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:103113573 (GRCh38)
7:102754021 (GRCh37)
Canonical SPDI:: NC_000007.14:103113573:TTTTTTTTTTT:TTTTTTTTTTTAAAGACAGAGTCTCACTTTTTTTTTTT
Gene:: NAPEPLD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TTTTTTTTTTTAAAGACAGAGTCTCAC=0.0001/1 (GnomAD)
HGVS:: NC_000007.14:g.103113574_103113584T[11]AAAGACAGAGTCTCACTTTTTTTTTTT[1], NC_000007.13:g.102754021_102754031T[11]AAAGACAGAGTCTCACTTTTTTTTTTT[1], NT_187559.1:g.131145_131155A[11]GTGAGACTCTGTCTTTAAAAAAAAAAA[1]

Select item 149134591512.

rs1491345915 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149130209613.

rs1491302096 has merged into rs374149784 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:103155298 (GRCh38)
7:102795745 (GRCh37)
Canonical SPDI:: NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103155288:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105375434 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.103155298_103155308del, NC_000007.14:g.103155301_103155308del, NC_000007.14:g.103155302_103155308del, NC_000007.14:g.103155303_103155308del, NC_000007.14:g.103155304_103155308del, NC_000007.14:g.103155305_103155308del, NC_000007.14:g.103155306_103155308del, NC_000007.14:g.103155307_103155308del, NC_000007.14:g.103155308del, NC_000007.14:g.103155308dup, NC_000007.14:g.103155307_103155308dup, NC_000007.14:g.103155306_103155308dup, NC_000007.14:g.103155305_103155308dup, NC_000007.14:g.103155304_103155308dup, NC_000007.14:g.103155303_103155308dup, NC_000007.14:g.103155302_103155308dup, NC_000007.14:g.103155301_103155308dup, NC_000007.14:g.103155300_103155308dup, NC_000007.14:g.103155299_103155308dup, NC_000007.14:g.103155298_103155308dup, NC_000007.14:g.103155297_103155308dup, NC_000007.14:g.103155296_103155308dup, NC_000007.14:g.103155295_103155308dup, NC_000007.14:g.103155294_103155308dup, NC_000007.13:g.102795745_102795755del, NC_000007.13:g.102795748_102795755del, NC_000007.13:g.102795749_102795755del, NC_000007.13:g.102795750_102795755del, NC_000007.13:g.102795751_102795755del, NC_000007.13:g.102795752_102795755del, NC_000007.13:g.102795753_102795755del, NC_000007.13:g.102795754_102795755del, NC_000007.13:g.102795755del, NC_000007.13:g.102795755dup, NC_000007.13:g.102795754_102795755dup, NC_000007.13:g.102795753_102795755dup, NC_000007.13:g.102795752_102795755dup, NC_000007.13:g.102795751_102795755dup, NC_000007.13:g.102795750_102795755dup, NC_000007.13:g.102795749_102795755dup, NC_000007.13:g.102795748_102795755dup, NC_000007.13:g.102795747_102795755dup, NC_000007.13:g.102795746_102795755dup, NC_000007.13:g.102795745_102795755dup, NC_000007.13:g.102795744_102795755dup, NC_000007.13:g.102795743_102795755dup, NC_000007.13:g.102795742_102795755dup, NC_000007.13:g.102795741_102795755dup

Select item 149130129414.

rs1491301294 has merged into rs1377880463 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 7:103210846 (GRCh38)
7:102851293 (GRCh37)
Canonical SPDI:: NC_000007.14:103210841:TGTGTGTG:TGTG,NC_000007.14:103210841:TGTGTGTG:TGTGTG,NC_000007.14:103210841:TGTGTGTG:TGTGTGTGTG
Gene:: DPY19L2P2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTG=0./0 (ALFA)
HGVS:: NC_000007.14:g.103210842TG[2], NC_000007.14:g.103210842TG[3], NC_000007.14:g.103210842TG[5], NC_000007.13:g.102851289TG[2], NC_000007.13:g.102851289TG[3], NC_000007.13:g.102851289TG[5], NT_187559.1:g.31249CA[2], NT_187559.1:g.31249CA[3], NT_187559.1:g.31249CA[5]

Select item 149128349315.

rs1491283493 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:103150894 (GRCh38)
7:102791341 (GRCh37)
Canonical SPDI:: NC_000007.14:103150893:CA:
Gene:: NAPEPLD (Varview), LOC105375434 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000088/12 (GnomAD)
HGVS:: NC_000007.14:g.103150894_103150895del, NC_000007.13:g.102791341_102791342del, NT_187559.1:g.93833_93834del

Select item 149124237116.

rs1491242371 has merged into rs760665174 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:103216778 (GRCh38)
7:102857225 (GRCh37)
Canonical SPDI:: NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103216768:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DPY19L2P2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.103216778_103216787del, NC_000007.14:g.103216779_103216787del, NC_000007.14:g.103216780_103216787del, NC_000007.14:g.103216781_103216787del, NC_000007.14:g.103216782_103216787del, NC_000007.14:g.103216783_103216787del, NC_000007.14:g.103216784_103216787del, NC_000007.14:g.103216785_103216787del, NC_000007.14:g.103216786_103216787del, NC_000007.14:g.103216787del, NC_000007.14:g.103216787dup, NC_000007.14:g.103216786_103216787dup, NC_000007.14:g.103216785_103216787dup, NC_000007.14:g.103216784_103216787dup, NC_000007.14:g.103216783_103216787dup, NC_000007.14:g.103216782_103216787dup, NC_000007.14:g.103216781_103216787dup, NC_000007.14:g.103216780_103216787dup, NC_000007.14:g.103216772_103216787dup, NC_000007.13:g.102857225_102857234del, NC_000007.13:g.102857226_102857234del, NC_000007.13:g.102857227_102857234del, NC_000007.13:g.102857228_102857234del, NC_000007.13:g.102857229_102857234del, NC_000007.13:g.102857230_102857234del, NC_000007.13:g.102857231_102857234del, NC_000007.13:g.102857232_102857234del, NC_000007.13:g.102857233_102857234del, NC_000007.13:g.102857234del, NC_000007.13:g.102857234dup, NC_000007.13:g.102857233_102857234dup, NC_000007.13:g.102857232_102857234dup, NC_000007.13:g.102857231_102857234dup, NC_000007.13:g.102857230_102857234dup, NC_000007.13:g.102857229_102857234dup, NC_000007.13:g.102857228_102857234dup, NC_000007.13:g.102857227_102857234dup, NC_000007.13:g.102857219_102857234dup, NT_187559.1:g.25320_25329del, NT_187559.1:g.25321_25329del, NT_187559.1:g.25322_25329del, NT_187559.1:g.25323_25329del, NT_187559.1:g.25324_25329del, NT_187559.1:g.25325_25329del, NT_187559.1:g.25326_25329del, NT_187559.1:g.25327_25329del, NT_187559.1:g.25328_25329del, NT_187559.1:g.25329del, NT_187559.1:g.25329dup, NT_187559.1:g.25328_25329dup, NT_187559.1:g.25327_25329dup, NT_187559.1:g.25326_25329dup, NT_187559.1:g.25325_25329dup, NT_187559.1:g.25324_25329dup, NT_187559.1:g.25323_25329dup, NT_187559.1:g.25322_25329dup, NT_187559.1:g.25314_25329dup

Select item 149123333417.

rs1491233334 has merged into rs377763676 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:103140397 (GRCh38)
7:102780844 (GRCh37)
Canonical SPDI:: NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:103140387:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NAPEPLD (Varview), LOC105375434 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.103140397_103140410del, NC_000007.14:g.103140398_103140410del, NC_000007.14:g.103140399_103140410del, NC_000007.14:g.103140400_103140410del, NC_000007.14:g.103140401_103140410del, NC_000007.14:g.103140402_103140410del, NC_000007.14:g.103140403_103140410del, NC_000007.14:g.103140404_103140410del, NC_000007.14:g.103140405_103140410del, NC_000007.14:g.103140406_103140410del, NC_000007.14:g.103140407_103140410del, NC_000007.14:g.103140408_103140410del, NC_000007.14:g.103140409_103140410del, NC_000007.14:g.103140410del, NC_000007.14:g.103140410dup, NC_000007.14:g.103140409_103140410dup, NC_000007.14:g.103140408_103140410dup, NC_000007.14:g.103140407_103140410dup, NC_000007.14:g.103140406_103140410dup, NC_000007.14:g.103140405_103140410dup, NC_000007.14:g.103140404_103140410dup, NC_000007.14:g.103140402_103140410dup, NC_000007.14:g.103140401_103140410dup, NC_000007.14:g.103140396_103140410dup, NC_000007.14:g.103140392_103140410dup, NC_000007.14:g.103140388_103140410dup, NC_000007.14:g.103140410_103140411insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.102780844_102780857del, NC_000007.13:g.102780845_102780857del, NC_000007.13:g.102780846_102780857del, NC_000007.13:g.102780847_102780857del, NC_000007.13:g.102780848_102780857del, NC_000007.13:g.102780849_102780857del, NC_000007.13:g.102780850_102780857del, NC_000007.13:g.102780851_102780857del, NC_000007.13:g.102780852_102780857del, NC_000007.13:g.102780853_102780857del, NC_000007.13:g.102780854_102780857del, NC_000007.13:g.102780855_102780857del, NC_000007.13:g.102780856_102780857del, NC_000007.13:g.102780857del, NC_000007.13:g.102780857dup, NC_000007.13:g.102780856_102780857dup, NC_000007.13:g.102780855_102780857dup, NC_000007.13:g.102780854_102780857dup, NC_000007.13:g.102780853_102780857dup, NC_000007.13:g.102780852_102780857dup, NC_000007.13:g.102780851_102780857dup, NC_000007.13:g.102780849_102780857dup, NC_000007.13:g.102780848_102780857dup, NC_000007.13:g.102780843_102780857dup, NC_000007.13:g.102780839_102780857dup, NC_000007.13:g.102780835_102780857dup, NC_000007.13:g.102780857_102780858insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187559.1:g.104332_104345del, NT_187559.1:g.104333_104345del, NT_187559.1:g.104334_104345del, NT_187559.1:g.104335_104345del, NT_187559.1:g.104336_104345del, NT_187559.1:g.104337_104345del, NT_187559.1:g.104338_104345del, NT_187559.1:g.104339_104345del, NT_187559.1:g.104340_104345del, NT_187559.1:g.104341_104345del, NT_187559.1:g.104342_104345del, NT_187559.1:g.104343_104345del, NT_187559.1:g.104344_104345del, NT_187559.1:g.104345del, NT_187559.1:g.104345dup, NT_187559.1:g.104344_104345dup, NT_187559.1:g.104343_104345dup, NT_187559.1:g.104342_104345dup, NT_187559.1:g.104341_104345dup, NT_187559.1:g.104340_104345dup, NT_187559.1:g.104339_104345dup, NT_187559.1:g.104337_104345dup, NT_187559.1:g.104336_104345dup, NT_187559.1:g.104331_104345dup, NT_187559.1:g.104327_104345dup, NT_187559.1:g.104323_104345dup, NT_187559.1:g.104345_104346insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149121697518.

rs1491216975 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 149119419619.

rs1491194196 [Homo sapiens]

Variant type:: SNV:
Alleles:: AT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149116202820.

rs1491162028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 7:103228441 (GRCh38)
7:102868889 (GRCh37)
Canonical SPDI:: NC_000007.14:103228441:CT:CTCT
Gene:: DPY19L2P2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000071/1 (ALFA)
CT=0.000004/1 (TOPMED)
CT=0.000019/1 (GnomAD)
HGVS:: NC_000007.14:g.103228442_103228443dup, NC_000007.13:g.102868889_102868890dup, NT_187559.1:g.13655_13656dup

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