SNP Links for Nucleotide (Select 429535863) - SNP

Links from Nucleotide

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Select item 14915475391.

rs1491547539 has merged into rs10713596 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:55641293 (GRCh38)
2:55868428 (GRCh37)
Canonical SPDI:: NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55641283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PNPT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.2905/1455 (1000Genomes)
HGVS:: NC_000002.12:g.55641293_55641304del, NC_000002.12:g.55641294_55641304del, NC_000002.12:g.55641297_55641304del, NC_000002.12:g.55641298_55641304del, NC_000002.12:g.55641299_55641304del, NC_000002.12:g.55641300_55641304del, NC_000002.12:g.55641301_55641304del, NC_000002.12:g.55641302_55641304del, NC_000002.12:g.55641303_55641304del, NC_000002.12:g.55641304del, NC_000002.12:g.55641304dup, NC_000002.12:g.55641303_55641304dup, NC_000002.12:g.55641302_55641304dup, NC_000002.11:g.55868428_55868439del, NC_000002.11:g.55868429_55868439del, NC_000002.11:g.55868432_55868439del, NC_000002.11:g.55868433_55868439del, NC_000002.11:g.55868434_55868439del, NC_000002.11:g.55868435_55868439del, NC_000002.11:g.55868436_55868439del, NC_000002.11:g.55868437_55868439del, NC_000002.11:g.55868438_55868439del, NC_000002.11:g.55868439del, NC_000002.11:g.55868439dup, NC_000002.11:g.55868438_55868439dup, NC_000002.11:g.55868437_55868439dup, NG_033012.1:g.57616_57627del, NG_033012.1:g.57617_57627del, NG_033012.1:g.57620_57627del, NG_033012.1:g.57621_57627del, NG_033012.1:g.57622_57627del, NG_033012.1:g.57623_57627del, NG_033012.1:g.57624_57627del, NG_033012.1:g.57625_57627del, NG_033012.1:g.57626_57627del, NG_033012.1:g.57627del, NG_033012.1:g.57627dup, NG_033012.1:g.57626_57627dup, NG_033012.1:g.57625_57627dup

Select item 14915350282.

rs1491535028 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,TC [Show Flanks]
Chromosome:: 2:55681843 (GRCh38)
2:55908979 (GRCh37)
Canonical SPDI:: NC_000002.12:55681843::A,NC_000002.12:55681843::AAA,NC_000002.12:55681843::TC
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.00042/12 (TOMMO)
A=0.00268/57 (GnomAD)
HGVS:: NC_000002.12:g.55681843_55681844insA, NC_000002.12:g.55681843_55681844insAAA, NC_000002.12:g.55681843_55681844insTC, NC_000002.11:g.55908978_55908979insA, NC_000002.11:g.55908978_55908979insAAA, NC_000002.11:g.55908978_55908979insTC, NG_033012.1:g.17067_17068insT, NG_033012.1:g.17067_17068insTTT, NG_033012.1:g.17067_17068insGA

Select item 14915243093.

rs1491524309 has merged into rs1170395979 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:55633646 (GRCh38)
2:55860781 (GRCh37)
Canonical SPDI:: NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55633640:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PNPT1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.55633646_55633660del, NC_000002.12:g.55633649_55633660del, NC_000002.12:g.55633651_55633660del, NC_000002.12:g.55633652_55633660del, NC_000002.12:g.55633653_55633660del, NC_000002.12:g.55633654_55633660del, NC_000002.12:g.55633655_55633660del, NC_000002.12:g.55633656_55633660del, NC_000002.12:g.55633657_55633660del, NC_000002.12:g.55633658_55633660del, NC_000002.12:g.55633659_55633660del, NC_000002.12:g.55633660del, NC_000002.12:g.55633660dup, NC_000002.12:g.55633659_55633660dup, NC_000002.12:g.55633658_55633660dup, NC_000002.12:g.55633657_55633660dup, NC_000002.12:g.55633656_55633660dup, NC_000002.12:g.55633655_55633660dup, NC_000002.12:g.55633654_55633660dup, NC_000002.12:g.55633653_55633660dup, NC_000002.12:g.55633652_55633660dup, NC_000002.12:g.55633650_55633660dup, NC_000002.12:g.55633649_55633660dup, NC_000002.12:g.55633648_55633660dup, NC_000002.12:g.55633647_55633660dup, NC_000002.12:g.55633646_55633660dup, NC_000002.12:g.55633645_55633660dup, NC_000002.12:g.55633644_55633660dup, NC_000002.12:g.55633643_55633660dup, NC_000002.12:g.55633642_55633660dup, NC_000002.12:g.55633641_55633660dup, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633660_55633661insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.55633641_55633660A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.55860781_55860795del, NC_000002.11:g.55860784_55860795del, NC_000002.11:g.55860786_55860795del, NC_000002.11:g.55860787_55860795del, NC_000002.11:g.55860788_55860795del, NC_000002.11:g.55860789_55860795del, NC_000002.11:g.55860790_55860795del, NC_000002.11:g.55860791_55860795del, NC_000002.11:g.55860792_55860795del, NC_000002.11:g.55860793_55860795del, NC_000002.11:g.55860794_55860795del, NC_000002.11:g.55860795del, NC_000002.11:g.55860795dup, NC_000002.11:g.55860794_55860795dup, NC_000002.11:g.55860793_55860795dup, NC_000002.11:g.55860792_55860795dup, NC_000002.11:g.55860791_55860795dup, NC_000002.11:g.55860790_55860795dup, NC_000002.11:g.55860789_55860795dup, NC_000002.11:g.55860788_55860795dup, NC_000002.11:g.55860787_55860795dup, NC_000002.11:g.55860785_55860795dup, NC_000002.11:g.55860784_55860795dup, NC_000002.11:g.55860783_55860795dup, NC_000002.11:g.55860782_55860795dup, NC_000002.11:g.55860781_55860795dup, NC_000002.11:g.55860780_55860795dup, NC_000002.11:g.55860779_55860795dup, NC_000002.11:g.55860778_55860795dup, NC_000002.11:g.55860777_55860795dup, NC_000002.11:g.55860776_55860795dup, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860795_55860796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.55860776_55860795A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_033012.1:g.65256_65270del, NG_033012.1:g.65259_65270del, NG_033012.1:g.65261_65270del, NG_033012.1:g.65262_65270del, NG_033012.1:g.65263_65270del, NG_033012.1:g.65264_65270del, NG_033012.1:g.65265_65270del, NG_033012.1:g.65266_65270del, NG_033012.1:g.65267_65270del, NG_033012.1:g.65268_65270del, NG_033012.1:g.65269_65270del, NG_033012.1:g.65270del, NG_033012.1:g.65270dup, NG_033012.1:g.65269_65270dup, NG_033012.1:g.65268_65270dup, NG_033012.1:g.65267_65270dup, NG_033012.1:g.65266_65270dup, NG_033012.1:g.65265_65270dup, NG_033012.1:g.65264_65270dup, NG_033012.1:g.65263_65270dup, NG_033012.1:g.65262_65270dup, NG_033012.1:g.65260_65270dup, NG_033012.1:g.65259_65270dup, NG_033012.1:g.65258_65270dup, NG_033012.1:g.65257_65270dup, NG_033012.1:g.65256_65270dup, NG_033012.1:g.65255_65270dup, NG_033012.1:g.65254_65270dup, NG_033012.1:g.65253_65270dup, NG_033012.1:g.65252_65270dup, NG_033012.1:g.65251_65270dup, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65270_65271insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033012.1:g.65251_65270T[26]CTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915065624.

rs1491506562 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 2:55662897 (GRCh38)
2:55890033 (GRCh37)
Canonical SPDI:: NC_000002.12:55662897::TG
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TG=0.0062/23 (TWINSUK)
TG=0.0078/30 (ALSPAC)
HGVS:: NC_000002.12:g.55662897_55662898insTG, NC_000002.11:g.55890032_55890033insTG, NG_033012.1:g.36013_36014insCA

Select item 14914925925.

rs1491492592 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:55651791 (GRCh38)
2:55878926 (GRCh37)
Canonical SPDI:: NC_000002.12:55651790:TA:
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.55651791_55651792del, NC_000002.11:g.55878926_55878927del, NG_033012.1:g.47119_47120del

Select item 14914265896.

rs1491426589 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:55677596 (GRCh38)
2:55904731 (GRCh37)
Canonical SPDI:: NC_000002.12:55677595:CA:
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.55677596_55677597del, NC_000002.11:g.55904731_55904732del, NG_033012.1:g.21314_21315del

Select item 14913918957.

rs1491391895 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:55651885 (GRCh38)
2:55879020 (GRCh37)
Canonical SPDI:: NC_000002.12:55651884:CA:
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00019/4 (GnomAD)
HGVS:: NC_000002.12:g.55651885_55651886del, NC_000002.11:g.55879020_55879021del, NG_033012.1:g.47025_47026del

Select item 14913825898.

rs1491382589 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:55652182 (GRCh38)
2:55879317 (GRCh37)
Canonical SPDI:: NC_000002.12:55652180:TGT:T
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
-=0.000094/25 (TOPMED)
-=0.000154/16 (GnomAD)
HGVS:: NC_000002.12:g.55652182_55652183del, NC_000002.11:g.55879317_55879318del, NG_033012.1:g.46729_46730del

Select item 14913772529.

rs1491377252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:55645837 (GRCh38)
2:55872973 (GRCh37)
Canonical SPDI:: NC_000002.12:55645837:C:CC
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000069/3 (GnomAD)
HGVS:: NC_000002.12:g.55645838dup, NC_000002.11:g.55872973dup, NG_033012.1:g.53073dup

Select item 149137303510.

rs1491373035 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:55633640 (GRCh38)
2:55860775 (GRCh37)
Canonical SPDI:: NC_000002.12:55633639:CA:
Gene:: PNPT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.55633640_55633641del, NC_000002.11:g.55860775_55860776del, NG_033012.1:g.65270_65271del

Select item 149127298911.

rs1491272989 [Homo sapiens]

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

Select item 149123290212.

rs1491232902 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 2:55651905 (GRCh38)
2:55879040 (GRCh37)
Canonical SPDI:: NC_000002.12:55651903:ACA:A,NC_000002.12:55651903:ACA:ACACA
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.55651905_55651906del, NC_000002.12:g.55651905_55651906dup, NC_000002.11:g.55879040_55879041del, NC_000002.11:g.55879040_55879041dup, NG_033012.1:g.47006_47007del, NG_033012.1:g.47006_47007dup

Select item 149119873813.

rs1491198738 has merged into rs1227966046 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:55691890 (GRCh38)
2:55919025 (GRCh37)
Canonical SPDI:: NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55691878:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.55691890_55691902del, NC_000002.12:g.55691891_55691902del, NC_000002.12:g.55691892_55691902del, NC_000002.12:g.55691893_55691902del, NC_000002.12:g.55691894_55691902del, NC_000002.12:g.55691895_55691902del, NC_000002.12:g.55691896_55691902del, NC_000002.12:g.55691897_55691902del, NC_000002.12:g.55691898_55691902del, NC_000002.12:g.55691899_55691902del, NC_000002.12:g.55691900_55691902del, NC_000002.12:g.55691901_55691902del, NC_000002.12:g.55691902del, NC_000002.12:g.55691902dup, NC_000002.12:g.55691901_55691902dup, NC_000002.12:g.55691900_55691902dup, NC_000002.12:g.55691899_55691902dup, NC_000002.12:g.55691898_55691902dup, NC_000002.12:g.55691897_55691902dup, NC_000002.12:g.55691896_55691902dup, NC_000002.12:g.55691895_55691902dup, NC_000002.12:g.55691894_55691902dup, NC_000002.12:g.55691893_55691902dup, NC_000002.12:g.55691892_55691902dup, NC_000002.12:g.55691891_55691902dup, NC_000002.12:g.55691890_55691902dup, NC_000002.12:g.55691889_55691902dup, NC_000002.12:g.55691888_55691902dup, NC_000002.12:g.55691886_55691902dup, NC_000002.11:g.55919025_55919037del, NC_000002.11:g.55919026_55919037del, NC_000002.11:g.55919027_55919037del, NC_000002.11:g.55919028_55919037del, NC_000002.11:g.55919029_55919037del, NC_000002.11:g.55919030_55919037del, NC_000002.11:g.55919031_55919037del, NC_000002.11:g.55919032_55919037del, NC_000002.11:g.55919033_55919037del, NC_000002.11:g.55919034_55919037del, NC_000002.11:g.55919035_55919037del, NC_000002.11:g.55919036_55919037del, NC_000002.11:g.55919037del, NC_000002.11:g.55919037dup, NC_000002.11:g.55919036_55919037dup, NC_000002.11:g.55919035_55919037dup, NC_000002.11:g.55919034_55919037dup, NC_000002.11:g.55919033_55919037dup, NC_000002.11:g.55919032_55919037dup, NC_000002.11:g.55919031_55919037dup, NC_000002.11:g.55919030_55919037dup, NC_000002.11:g.55919029_55919037dup, NC_000002.11:g.55919028_55919037dup, NC_000002.11:g.55919027_55919037dup, NC_000002.11:g.55919026_55919037dup, NC_000002.11:g.55919025_55919037dup, NC_000002.11:g.55919024_55919037dup, NC_000002.11:g.55919023_55919037dup, NC_000002.11:g.55919021_55919037dup, NG_033012.1:g.7020_7032del, NG_033012.1:g.7021_7032del, NG_033012.1:g.7022_7032del, NG_033012.1:g.7023_7032del, NG_033012.1:g.7024_7032del, NG_033012.1:g.7025_7032del, NG_033012.1:g.7026_7032del, NG_033012.1:g.7027_7032del, NG_033012.1:g.7028_7032del, NG_033012.1:g.7029_7032del, NG_033012.1:g.7030_7032del, NG_033012.1:g.7031_7032del, NG_033012.1:g.7032del, NG_033012.1:g.7032dup, NG_033012.1:g.7031_7032dup, NG_033012.1:g.7030_7032dup, NG_033012.1:g.7029_7032dup, NG_033012.1:g.7028_7032dup, NG_033012.1:g.7027_7032dup, NG_033012.1:g.7026_7032dup, NG_033012.1:g.7025_7032dup, NG_033012.1:g.7024_7032dup, NG_033012.1:g.7023_7032dup, NG_033012.1:g.7022_7032dup, NG_033012.1:g.7021_7032dup, NG_033012.1:g.7020_7032dup, NG_033012.1:g.7019_7032dup, NG_033012.1:g.7018_7032dup, NG_033012.1:g.7016_7032dup

Select item 149116334714.

rs1491163347 has merged into rs57731680 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:55669777 (GRCh38)
2:55896912 (GRCh37)
Canonical SPDI:: NC_000002.12:55669762:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:55669762:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:55669762:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.55669777_55669778del, NC_000002.12:g.55669778del, NC_000002.12:g.55669778dup, NC_000002.11:g.55896912_55896913del, NC_000002.11:g.55896913del, NC_000002.11:g.55896913dup, NG_033012.1:g.29147_29148del, NG_033012.1:g.29148del, NG_033012.1:g.29148dup

Select item 149115528915.

rs1491155289 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:55641283 (GRCh38)
2:55868418 (GRCh37)
Canonical SPDI:: NC_000002.12:55641282:AT:
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000066/7 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.55641283_55641284del, NC_000002.11:g.55868418_55868419del, NG_033012.1:g.57627_57628del

Select item 149113930716.

rs1491139307 has merged into rs1024830306 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 2:55651802 (GRCh38)
2:55878937 (GRCh37)
Canonical SPDI:: NC_000002.12:55651791:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:55651791:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:55651791:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.00006/1 (ALFA)
HGVS:: NC_000002.12:g.55651802_55651803del, NC_000002.12:g.55651803del, NC_000002.12:g.55651803dup, NC_000002.11:g.55878937_55878938del, NC_000002.11:g.55878938del, NC_000002.11:g.55878938dup, NG_033012.1:g.47118_47119del, NG_033012.1:g.47119del, NG_033012.1:g.47119dup

Select item 149113180617.

rs1491131806 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,GTA [Show Flanks]
Chromosome:: 2:55691879 (GRCh38)
2:55919015 (GRCh37)
Canonical SPDI:: NC_000002.12:55691879::A,NC_000002.12:55691879::ATA,NC_000002.12:55691879::ATATA,NC_000002.12:55691879::ATATATA,NC_000002.12:55691879::ATATATATA,NC_000002.12:55691879::ATATATATATA,NC_000002.12:55691879::ATATATATATATA,NC_000002.12:55691879::ATATATATATATATA,NC_000002.12:55691879::ATATATATATATATATA,NC_000002.12:55691879::ATATATATATATATATATA,NC_000002.12:55691879::GTA
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.55691879_55691880insA, NC_000002.12:g.55691879_55691880insATA, NC_000002.12:g.55691879_55691880insATATA, NC_000002.12:g.55691879_55691880insATATATA, NC_000002.12:g.55691879_55691880insATATATATA, NC_000002.12:g.55691879_55691880insATATATATATA, NC_000002.12:g.55691879_55691880insATATATATATATA, NC_000002.12:g.55691879_55691880insATATATATATATATA, NC_000002.12:g.55691879_55691880insATATATATATATATATA, NC_000002.12:g.55691879_55691880insATATATATATATATATATA, NC_000002.12:g.55691879_55691880insGTA, NC_000002.11:g.55919014_55919015insA, NC_000002.11:g.55919014_55919015insATA, NC_000002.11:g.55919014_55919015insATATA, NC_000002.11:g.55919014_55919015insATATATA, NC_000002.11:g.55919014_55919015insATATATATA, NC_000002.11:g.55919014_55919015insATATATATATA, NC_000002.11:g.55919014_55919015insATATATATATATA, NC_000002.11:g.55919014_55919015insATATATATATATATA, NC_000002.11:g.55919014_55919015insATATATATATATATATA, NC_000002.11:g.55919014_55919015insATATATATATATATATATA, NC_000002.11:g.55919014_55919015insGTA, NG_033012.1:g.7031_7032insT, NG_033012.1:g.7031_7032insTAT, NG_033012.1:g.7031_7032insTATAT, NG_033012.1:g.7031_7032insTATATAT, NG_033012.1:g.7031_7032insTATATATAT, NG_033012.1:g.7031_7032insTATATATATAT, NG_033012.1:g.7031_7032insTATATATATATAT, NG_033012.1:g.7031_7032insTATATATATATATAT, NG_033012.1:g.7031_7032insTATATATATATATATAT, NG_033012.1:g.7031_7032insTATATATATATATATATAT, NG_033012.1:g.7031_7032insTAC

Select item 149112226018.

rs1491122260 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAG,AAAAAACCTT,AAAAATAAC,AAC [Show Flanks]
Chromosome:: 2:55651904 (GRCh38)
2:55879040 (GRCh37)
Canonical SPDI:: NC_000002.12:55651904::AAAAAAAAG,NC_000002.12:55651904::AAAAAACCTT,NC_000002.12:55651904::AAAAATAAC,NC_000002.12:55651904::AAC
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAC=0./0 (ALFA)
HGVS:: NC_000002.12:g.55651904_55651905insAAAAAAAAG, NC_000002.12:g.55651904_55651905insAAAAAACCTT, NC_000002.12:g.55651904_55651905insAAAAATAAC, NC_000002.12:g.55651904_55651905insAAC, NC_000002.11:g.55879039_55879040insAAAAAAAAG, NC_000002.11:g.55879039_55879040insAAAAAACCTT, NC_000002.11:g.55879039_55879040insAAAAATAAC, NC_000002.11:g.55879039_55879040insAAC, NG_033012.1:g.47006_47007insCTTTTTTTT, NG_033012.1:g.47006_47007insAAGGTTTTTT, NG_033012.1:g.47006_47007insGTTATTTTT, NG_033012.1:g.47006_47007insGTT

Select item 149109683719.

rs1491096837 has merged into rs70954146 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:55677607 (GRCh38)
2:55904742 (GRCh37)
Canonical SPDI:: NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:55677596:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.55677607_55677622del, NC_000002.12:g.55677609_55677622del, NC_000002.12:g.55677610_55677622del, NC_000002.12:g.55677611_55677622del, NC_000002.12:g.55677612_55677622del, NC_000002.12:g.55677613_55677622del, NC_000002.12:g.55677614_55677622del, NC_000002.12:g.55677615_55677622del, NC_000002.12:g.55677616_55677622del, NC_000002.12:g.55677617_55677622del, NC_000002.12:g.55677618_55677622del, NC_000002.12:g.55677619_55677622del, NC_000002.12:g.55677620_55677622del, NC_000002.12:g.55677621_55677622del, NC_000002.12:g.55677622del, NC_000002.12:g.55677622dup, NC_000002.12:g.55677621_55677622dup, NC_000002.12:g.55677620_55677622dup, NC_000002.12:g.55677619_55677622dup, NC_000002.12:g.55677618_55677622dup, NC_000002.12:g.55677617_55677622dup, NC_000002.12:g.55677616_55677622dup, NC_000002.12:g.55677614_55677622dup, NC_000002.11:g.55904742_55904757del, NC_000002.11:g.55904744_55904757del, NC_000002.11:g.55904745_55904757del, NC_000002.11:g.55904746_55904757del, NC_000002.11:g.55904747_55904757del, NC_000002.11:g.55904748_55904757del, NC_000002.11:g.55904749_55904757del, NC_000002.11:g.55904750_55904757del, NC_000002.11:g.55904751_55904757del, NC_000002.11:g.55904752_55904757del, NC_000002.11:g.55904753_55904757del, NC_000002.11:g.55904754_55904757del, NC_000002.11:g.55904755_55904757del, NC_000002.11:g.55904756_55904757del, NC_000002.11:g.55904757del, NC_000002.11:g.55904757dup, NC_000002.11:g.55904756_55904757dup, NC_000002.11:g.55904755_55904757dup, NC_000002.11:g.55904754_55904757dup, NC_000002.11:g.55904753_55904757dup, NC_000002.11:g.55904752_55904757dup, NC_000002.11:g.55904751_55904757dup, NC_000002.11:g.55904749_55904757dup, NG_033012.1:g.21299_21314del, NG_033012.1:g.21301_21314del, NG_033012.1:g.21302_21314del, NG_033012.1:g.21303_21314del, NG_033012.1:g.21304_21314del, NG_033012.1:g.21305_21314del, NG_033012.1:g.21306_21314del, NG_033012.1:g.21307_21314del, NG_033012.1:g.21308_21314del, NG_033012.1:g.21309_21314del, NG_033012.1:g.21310_21314del, NG_033012.1:g.21311_21314del, NG_033012.1:g.21312_21314del, NG_033012.1:g.21313_21314del, NG_033012.1:g.21314del, NG_033012.1:g.21314dup, NG_033012.1:g.21313_21314dup, NG_033012.1:g.21312_21314dup, NG_033012.1:g.21311_21314dup, NG_033012.1:g.21310_21314dup, NG_033012.1:g.21309_21314dup, NG_033012.1:g.21308_21314dup, NG_033012.1:g.21306_21314dup

Select item 149107380720.

rs1491073807 has merged into rs139811313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:55688002 (GRCh38)
2:55915137 (GRCh37)
Canonical SPDI:: NC_000002.12:55687993:TTTTTTTTTT:TTTTTTTT,NC_000002.12:55687993:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:55687993:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:55687993:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: PNPT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.023046/23 (GoNL)
T=0.025/112 (Estonian)
T=0.026667/16 (NorthernSweden)
HGVS:: NC_000002.12:g.55688002_55688003del, NC_000002.12:g.55688003del, NC_000002.12:g.55688003dup, NC_000002.12:g.55688002_55688003dup, NC_000002.11:g.55915137_55915138del, NC_000002.11:g.55915138del, NC_000002.11:g.55915138dup, NC_000002.11:g.55915137_55915138dup, NG_033012.1:g.10916_10917del, NG_033012.1:g.10917del, NG_033012.1:g.10917dup, NG_033012.1:g.10916_10917dup

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