SNP Links for Nucleotide (Select 221139818) - SNP

Links from Nucleotide

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Select item 14915743171.

rs1491574317 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTG [Show Flanks]
Chromosome:: 2:202412913 (GRCh38)
2:203277637 (GRCh37)
Canonical SPDI:: NC_000002.12:202412913:GTGTG:GTGTGGGTGTG
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGGGTGTG=0.000071/1 (ALFA)
GTGTGG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.202412914_202412918GT[2]GGGTGTG[1], NC_000002.11:g.203277637_203277641GT[2]GGGTGTG[1], NG_009363.1:g.41588_41592GT[2]GGGTGTG[1]

Select item 14915717382.

rs1491571738 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCCCTC,CTTCCCCCTTCCCTC [Show Flanks]
Chromosome:: 2:202545230 (GRCh38)
2:203409954 (GRCh37)
Canonical SPDI:: NC_000002.12:202545230::CCCCCTC,NC_000002.12:202545230::CTTCCCCCTTCCCTC
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.202545230_202545231insCCCCCTC, NC_000002.12:g.202545230_202545231insCTTCCCCCTTCCCTC, NC_000002.11:g.203409953_203409954insCCCCCTC, NC_000002.11:g.203409953_203409954insCTTCCCCCTTCCCTC, NG_009363.1:g.173904_173905insCCCCCTC, NG_009363.1:g.173904_173905insCTTCCCCCTTCCCTC

Select item 14915390213.

rs1491539021 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 2:202544762 (GRCh38)
2:203409486 (GRCh37)
Canonical SPDI:: NC_000002.12:202544762:TT:TTCTT
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.202544764_202544765insCTT, NC_000002.11:g.203409487_203409488insCTT, NG_009363.1:g.173438_173439insCTT

Select item 14915356014.

rs1491535601 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:202392991 (GRCh38)
2:203257714 (GRCh37)
Canonical SPDI:: NC_000002.12:202392990:CA:
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.202392991_202392992del, NC_000002.11:g.203257714_203257715del, NG_009363.1:g.21665_21666del

Select item 14915314445.

rs1491531444 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:202456514 (GRCh38)
2:203321238 (GRCh37)
Canonical SPDI:: NC_000002.12:202456514::C
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.202456514_202456515insC, NC_000002.11:g.203321237_203321238insC, NG_009363.1:g.85188_85189insC

Select item 14915253126.

rs1491525312 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:202434937 (GRCh38)
2:203299660 (GRCh37)
Canonical SPDI:: NC_000002.12:202434935:TTT:T
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
-=0.00109/98 (GnomAD)
HGVS:: NC_000002.12:g.202434937_202434938del, NC_000002.11:g.203299660_203299661del, NG_009363.1:g.63611_63612del

Select item 14915169387.

rs1491516938 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:202448964 (GRCh38)
2:203313688 (GRCh37)
Canonical SPDI:: NC_000002.12:202448964::G
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000043/6 (GnomAD)
G=0.003225/54 (TOMMO)
G=0.010383/19 (Korea1K)
HGVS:: NC_000002.12:g.202448964_202448965insG, NC_000002.11:g.203313687_203313688insG, NG_009363.1:g.77638_77639insG

Select item 14915105608.

rs1491510560 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTAA [Show Flanks]
Chromosome:: 2:202428874 (GRCh38)
2:203293598 (GRCh37)
Canonical SPDI:: NC_000002.12:202428874::TTAA
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTAA=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.202428874_202428875insTTAA, NC_000002.11:g.203293597_203293598insTTAA, NG_009363.1:g.57548_57549insTTAA

Select item 14915104249.

rs1491510424 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:202476963 (GRCh38)
2:203341686 (GRCh37)
Canonical SPDI:: NC_000002.12:202476962:AG:
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.202476963_202476964del, NC_000002.11:g.203341686_203341687del, NG_009363.1:g.105637_105638del

Select item 149149675110.

rs1491496751 [Homo sapiens]

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

Select item 149147727211.

rs1491477272 [Homo sapiens]

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

Select item 149147407212.

rs1491474072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:202374077 (GRCh38)
2:203238801 (GRCh37)
Canonical SPDI:: NC_000002.12:202374077:C:CC
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000018/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.202374078dup, NC_000002.11:g.203238801dup, NG_009363.1:g.2752dup

Select item 149147121713.

rs1491471217 [Homo sapiens]

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

Select item 149143780514.

rs1491437805 has merged into rs11390605 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:202520064 (GRCh38)
2:203384787 (GRCh37)
Canonical SPDI:: NC_000002.12:202520053:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:202520053:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:202520053:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:202520053:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:202520053:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.01496/191 (ALFA)
-=0.17114/102 (1000Genomes)
HGVS:: NC_000002.12:g.202520064_202520065del, NC_000002.12:g.202520065del, NC_000002.12:g.202520065dup, NC_000002.12:g.202520064_202520065dup, NC_000002.12:g.202520063_202520065dup, NC_000002.11:g.203384787_203384788del, NC_000002.11:g.203384788del, NC_000002.11:g.203384788dup, NC_000002.11:g.203384787_203384788dup, NC_000002.11:g.203384786_203384788dup, NG_009363.1:g.148738_148739del, NG_009363.1:g.148739del, NG_009363.1:g.148739dup, NG_009363.1:g.148738_148739dup, NG_009363.1:g.148737_148739dup

Select item 149142252415.

rs1491422524 has merged into rs71035015 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:202531943 (GRCh38)
2:203396666 (GRCh37)
Canonical SPDI:: NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:202531930:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000002.12:g.202531943_202531957del, NC_000002.12:g.202531944_202531957del, NC_000002.12:g.202531945_202531957del, NC_000002.12:g.202531946_202531957del, NC_000002.12:g.202531947_202531957del, NC_000002.12:g.202531948_202531957del, NC_000002.12:g.202531949_202531957del, NC_000002.12:g.202531950_202531957del, NC_000002.12:g.202531951_202531957del, NC_000002.12:g.202531952_202531957del, NC_000002.12:g.202531953_202531957del, NC_000002.12:g.202531954_202531957del, NC_000002.12:g.202531955_202531957del, NC_000002.12:g.202531956_202531957del, NC_000002.12:g.202531957del, NC_000002.12:g.202531957dup, NC_000002.12:g.202531956_202531957dup, NC_000002.12:g.202531955_202531957dup, NC_000002.12:g.202531954_202531957dup, NC_000002.12:g.202531953_202531957dup, NC_000002.12:g.202531952_202531957dup, NC_000002.12:g.202531951_202531957dup, NC_000002.12:g.202531950_202531957dup, NC_000002.12:g.202531949_202531957dup, NC_000002.12:g.202531948_202531957dup, NC_000002.12:g.202531947_202531957dup, NC_000002.12:g.202531945_202531957dup, NC_000002.12:g.202531944_202531957dup, NC_000002.11:g.203396666_203396680del, NC_000002.11:g.203396667_203396680del, NC_000002.11:g.203396668_203396680del, NC_000002.11:g.203396669_203396680del, NC_000002.11:g.203396670_203396680del, NC_000002.11:g.203396671_203396680del, NC_000002.11:g.203396672_203396680del, NC_000002.11:g.203396673_203396680del, NC_000002.11:g.203396674_203396680del, NC_000002.11:g.203396675_203396680del, NC_000002.11:g.203396676_203396680del, NC_000002.11:g.203396677_203396680del, NC_000002.11:g.203396678_203396680del, NC_000002.11:g.203396679_203396680del, NC_000002.11:g.203396680del, NC_000002.11:g.203396680dup, NC_000002.11:g.203396679_203396680dup, NC_000002.11:g.203396678_203396680dup, NC_000002.11:g.203396677_203396680dup, NC_000002.11:g.203396676_203396680dup, NC_000002.11:g.203396675_203396680dup, NC_000002.11:g.203396674_203396680dup, NC_000002.11:g.203396673_203396680dup, NC_000002.11:g.203396672_203396680dup, NC_000002.11:g.203396671_203396680dup, NC_000002.11:g.203396670_203396680dup, NC_000002.11:g.203396668_203396680dup, NC_000002.11:g.203396667_203396680dup, NG_009363.1:g.160617_160631del, NG_009363.1:g.160618_160631del, NG_009363.1:g.160619_160631del, NG_009363.1:g.160620_160631del, NG_009363.1:g.160621_160631del, NG_009363.1:g.160622_160631del, NG_009363.1:g.160623_160631del, NG_009363.1:g.160624_160631del, NG_009363.1:g.160625_160631del, NG_009363.1:g.160626_160631del, NG_009363.1:g.160627_160631del, NG_009363.1:g.160628_160631del, NG_009363.1:g.160629_160631del, NG_009363.1:g.160630_160631del, NG_009363.1:g.160631del, NG_009363.1:g.160631dup, NG_009363.1:g.160630_160631dup, NG_009363.1:g.160629_160631dup, NG_009363.1:g.160628_160631dup, NG_009363.1:g.160627_160631dup, NG_009363.1:g.160626_160631dup, NG_009363.1:g.160625_160631dup, NG_009363.1:g.160624_160631dup, NG_009363.1:g.160623_160631dup, NG_009363.1:g.160622_160631dup, NG_009363.1:g.160621_160631dup, NG_009363.1:g.160619_160631dup, NG_009363.1:g.160618_160631dup

Select item 149139970616.

rs1491399706 has merged into rs371087481 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 2:202384560 (GRCh38)
2:203249283 (GRCh37)
Canonical SPDI:: NC_000002.12:202384558:TCT:T,NC_000002.12:202384558:TCT:TCTCT
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
-=0.01202/77 (1000Genomes)
-=0.02072/325 (TOMMO)
-=0.0288/50 (Korea1K)
-=0.10613/675 (GnomAD)
HGVS:: NC_000002.12:g.202384560_202384561del, NC_000002.12:g.202384560_202384561dup, NC_000002.11:g.203249283_203249284del, NC_000002.11:g.203249283_203249284dup, NG_009363.1:g.13234_13235del, NG_009363.1:g.13234_13235dup

Select item 149139692517.

rs1491396925 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 2:202448968 (GRCh38)
2:203313691 (GRCh37)
Canonical SPDI:: NC_000002.12:202448963:TTTTTT:TTTT,NC_000002.12:202448963:TTTTTT:TTTTTTT
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.202448968_202448969del, NC_000002.12:g.202448969dup, NC_000002.11:g.203313691_203313692del, NC_000002.11:g.203313692dup, NG_009363.1:g.77642_77643del, NG_009363.1:g.77643dup

Select item 149139565318.

rs1491395653 has merged into rs34853164 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:202538802 (GRCh38)
2:203403525 (GRCh37)
Canonical SPDI:: NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:202538793:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.202538802_202538815del, NC_000002.12:g.202538804_202538815del, NC_000002.12:g.202538805_202538815del, NC_000002.12:g.202538807_202538815del, NC_000002.12:g.202538809_202538815del, NC_000002.12:g.202538810_202538815del, NC_000002.12:g.202538812_202538815del, NC_000002.12:g.202538813_202538815del, NC_000002.12:g.202538814_202538815del, NC_000002.12:g.202538815del, NC_000002.12:g.202538815dup, NC_000002.12:g.202538814_202538815dup, NC_000002.12:g.202538813_202538815dup, NC_000002.12:g.202538812_202538815dup, NC_000002.12:g.202538811_202538815dup, NC_000002.12:g.202538810_202538815dup, NC_000002.11:g.203403525_203403538del, NC_000002.11:g.203403527_203403538del, NC_000002.11:g.203403528_203403538del, NC_000002.11:g.203403530_203403538del, NC_000002.11:g.203403532_203403538del, NC_000002.11:g.203403533_203403538del, NC_000002.11:g.203403535_203403538del, NC_000002.11:g.203403536_203403538del, NC_000002.11:g.203403537_203403538del, NC_000002.11:g.203403538del, NC_000002.11:g.203403538dup, NC_000002.11:g.203403537_203403538dup, NC_000002.11:g.203403536_203403538dup, NC_000002.11:g.203403535_203403538dup, NC_000002.11:g.203403534_203403538dup, NC_000002.11:g.203403533_203403538dup, NG_009363.1:g.167476_167489del, NG_009363.1:g.167478_167489del, NG_009363.1:g.167479_167489del, NG_009363.1:g.167481_167489del, NG_009363.1:g.167483_167489del, NG_009363.1:g.167484_167489del, NG_009363.1:g.167486_167489del, NG_009363.1:g.167487_167489del, NG_009363.1:g.167488_167489del, NG_009363.1:g.167489del, NG_009363.1:g.167489dup, NG_009363.1:g.167488_167489dup, NG_009363.1:g.167487_167489dup, NG_009363.1:g.167486_167489dup, NG_009363.1:g.167485_167489dup, NG_009363.1:g.167484_167489dup

Select item 149138674619.

rs1491386746 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGTGGGGAGAGGGAGAGGGAGA>-,CCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGA [Show Flanks]
Chromosome:: 2:202536084 (GRCh38)
2:203400807 (GRCh37)
Canonical SPDI:: NC_000002.12:202536067:GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGA:GAGAGGGAGAGGGAGA,NC_000002.12:202536067:GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGA:GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGA
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGA=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.202536084_202536106del, NC_000002.12:g.202536084_202536106dup, NC_000002.11:g.203400807_203400829del, NC_000002.11:g.203400807_203400829dup, NG_009363.1:g.164758_164780del, NG_009363.1:g.164758_164780dup

Select item 149136232720.

rs1491362327 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:202435409 (GRCh38)
2:203300132 (GRCh37)
Canonical SPDI:: NC_000002.12:202435407:TGT:T
Gene:: BMPR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000179/21 (GnomAD)
HGVS:: NC_000002.12:g.202435409_202435410del, NC_000002.11:g.203300132_203300133del, NG_009363.1:g.64083_64084del

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