SNP Links for Gene (Select 658) - SNP

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Select item 14915848791.

rs1491584879 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTT [Show Flanks]
Chromosome:: 4:95026113 (GRCh38)
4:95947265 (GRCh37)
Canonical SPDI:: NC_000004.12:95026113:CTT:CTTCCTT
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTCCTT=0./0 (ALFA)
CTTC=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.95026116_95026117insCCTT, NC_000004.11:g.95947267_95947268insCCTT, NG_009245.1:g.273140_273141insCCTT

Select item 14915755472.

rs1491575547 has merged into rs70946548 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 4:94795445 (GRCh38)
4:95716596 (GRCh37)
Canonical SPDI:: NC_000004.12:94795435:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:94795435:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:94795435:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.000099/1 (ALFA)
-=0.28452/1055 (TWINSUK)
-=0.290867/1121 (ALSPAC)
-=0.299121/1498 (1000Genomes)
-=0.314247/83178 (TOPMED)
-=0.356667/214 (NorthernSweden)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000004.12:g.94795445_94795446del, NC_000004.12:g.94795446del, NC_000004.12:g.94795446dup, NC_000004.11:g.95716596_95716597del, NC_000004.11:g.95716597del, NC_000004.11:g.95716597dup, NG_009245.1:g.42469_42470del, NG_009245.1:g.42470del, NG_009245.1:g.42470dup

Select item 14915641793.

rs1491564179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:94770179 (GRCh38)
4:95691331 (GRCh37)
Canonical SPDI:: NC_000004.12:94770179:G:GG
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00131/70 (GnomAD)
HGVS:: NC_000004.12:g.94770180dup, NC_000004.11:g.95691331dup, NG_009245.1:g.17204dup

Select item 14915387644.

rs1491538764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 4:94776098 (GRCh38)
4:95697250 (GRCh37)
Canonical SPDI:: NC_000004.12:94776098:A:AGA
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.00006/1 (GnomAD)
HGVS:: NC_000004.12:g.94776099_94776100insGA, NC_000004.11:g.95697250_95697251insGA, NG_009245.1:g.23123_23124insGA

Select item 14915307435.

rs1491530743 has merged into rs11292596 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:94770902 (GRCh38)
4:95692053 (GRCh37)
Canonical SPDI:: NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94770888:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.94770902_94770909del, NC_000004.12:g.94770903_94770909del, NC_000004.12:g.94770905_94770909del, NC_000004.12:g.94770906_94770909del, NC_000004.12:g.94770907_94770909del, NC_000004.12:g.94770908_94770909del, NC_000004.12:g.94770909del, NC_000004.12:g.94770909dup, NC_000004.12:g.94770908_94770909dup, NC_000004.12:g.94770907_94770909dup, NC_000004.12:g.94770906_94770909dup, NC_000004.12:g.94770905_94770909dup, NC_000004.12:g.94770903_94770909dup, NC_000004.12:g.94770902_94770909dup, NC_000004.12:g.94770897_94770909dup, NC_000004.12:g.94770892_94770909dup, NC_000004.12:g.94770891_94770909dup, NC_000004.12:g.94770890_94770909dup, NC_000004.12:g.94770909_94770910insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95692053_95692060del, NC_000004.11:g.95692054_95692060del, NC_000004.11:g.95692056_95692060del, NC_000004.11:g.95692057_95692060del, NC_000004.11:g.95692058_95692060del, NC_000004.11:g.95692059_95692060del, NC_000004.11:g.95692060del, NC_000004.11:g.95692060dup, NC_000004.11:g.95692059_95692060dup, NC_000004.11:g.95692058_95692060dup, NC_000004.11:g.95692057_95692060dup, NC_000004.11:g.95692056_95692060dup, NC_000004.11:g.95692054_95692060dup, NC_000004.11:g.95692053_95692060dup, NC_000004.11:g.95692048_95692060dup, NC_000004.11:g.95692043_95692060dup, NC_000004.11:g.95692042_95692060dup, NC_000004.11:g.95692041_95692060dup, NC_000004.11:g.95692060_95692061insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009245.1:g.17926_17933del, NG_009245.1:g.17927_17933del, NG_009245.1:g.17929_17933del, NG_009245.1:g.17930_17933del, NG_009245.1:g.17931_17933del, NG_009245.1:g.17932_17933del, NG_009245.1:g.17933del, NG_009245.1:g.17933dup, NG_009245.1:g.17932_17933dup, NG_009245.1:g.17931_17933dup, NG_009245.1:g.17930_17933dup, NG_009245.1:g.17929_17933dup, NG_009245.1:g.17927_17933dup, NG_009245.1:g.17926_17933dup, NG_009245.1:g.17921_17933dup, NG_009245.1:g.17916_17933dup, NG_009245.1:g.17915_17933dup, NG_009245.1:g.17914_17933dup, NG_009245.1:g.17933_17934insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915271566.

rs1491527156 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:94823748 (GRCh38)
4:95744899 (GRCh37)
Canonical SPDI:: NC_000004.12:94823747:GT:
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00007/3 (GnomAD)
-=0.00011/2 (TOMMO)
HGVS:: NC_000004.12:g.94823748_94823749del, NC_000004.11:g.95744899_95744900del, NG_009245.1:g.70772_70773del

Select item 14915022217.

rs1491502221 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:95026110 (GRCh38)
4:95947261 (GRCh37)
Canonical SPDI:: NC_000004.12:95026108:TCT:T
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.95026110_95026111del, NC_000004.11:g.95947261_95947262del, NG_009245.1:g.273134_273135del

Select item 14914942558.

rs1491494255 has merged into rs10549500 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 4:95020588 (GRCh38)
4:95941739 (GRCh37)
Canonical SPDI:: NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:95020577:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1825/914 (1000Genomes)
HGVS:: NC_000004.12:g.95020588_95020595del, NC_000004.12:g.95020590_95020595del, NC_000004.12:g.95020591_95020595del, NC_000004.12:g.95020592_95020595del, NC_000004.12:g.95020593_95020595del, NC_000004.12:g.95020594_95020595del, NC_000004.12:g.95020595del, NC_000004.12:g.95020595dup, NC_000004.11:g.95941739_95941746del, NC_000004.11:g.95941741_95941746del, NC_000004.11:g.95941742_95941746del, NC_000004.11:g.95941743_95941746del, NC_000004.11:g.95941744_95941746del, NC_000004.11:g.95941745_95941746del, NC_000004.11:g.95941746del, NC_000004.11:g.95941746dup, NG_009245.1:g.267612_267619del, NG_009245.1:g.267614_267619del, NG_009245.1:g.267615_267619del, NG_009245.1:g.267616_267619del, NG_009245.1:g.267617_267619del, NG_009245.1:g.267618_267619del, NG_009245.1:g.267619del, NG_009245.1:g.267619dup

Select item 14914900539.

rs1491490053 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 4:94922338 (GRCh38)
4:95843490 (GRCh37)
Canonical SPDI:: NC_000004.12:94922338::GAG
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAG=0./0 (ALFA)
GAG=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.94922338_94922339insGAG, NC_000004.11:g.95843489_95843490insGAG, NG_009245.1:g.169362_169363insGAG

Select item 149148839410.

rs1491488394 has merged into rs5860385 [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,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:95003812 (GRCh38)
4:95924963 (GRCh37)
Canonical SPDI:: NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:95003801:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.95003812_95003825del, NC_000004.12:g.95003813_95003825del, NC_000004.12:g.95003814_95003825del, NC_000004.12:g.95003815_95003825del, NC_000004.12:g.95003816_95003825del, NC_000004.12:g.95003817_95003825del, NC_000004.12:g.95003818_95003825del, NC_000004.12:g.95003819_95003825del, NC_000004.12:g.95003820_95003825del, NC_000004.12:g.95003821_95003825del, NC_000004.12:g.95003822_95003825del, NC_000004.12:g.95003823_95003825del, NC_000004.12:g.95003824_95003825del, NC_000004.12:g.95003825del, NC_000004.12:g.95003825dup, NC_000004.12:g.95003824_95003825dup, NC_000004.12:g.95003823_95003825dup, NC_000004.12:g.95003822_95003825dup, NC_000004.12:g.95003821_95003825dup, NC_000004.12:g.95003820_95003825dup, NC_000004.12:g.95003819_95003825dup, NC_000004.12:g.95003818_95003825dup, NC_000004.12:g.95003817_95003825dup, NC_000004.12:g.95003816_95003825dup, NC_000004.12:g.95003815_95003825dup, NC_000004.12:g.95003814_95003825dup, NC_000004.12:g.95003812_95003825dup, NC_000004.12:g.95003811_95003825dup, NC_000004.12:g.95003810_95003825dup, NC_000004.12:g.95003807_95003825dup, NC_000004.12:g.95003803_95003825dup, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.95003825_95003826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924963_95924976del, NC_000004.11:g.95924964_95924976del, NC_000004.11:g.95924965_95924976del, NC_000004.11:g.95924966_95924976del, NC_000004.11:g.95924967_95924976del, NC_000004.11:g.95924968_95924976del, NC_000004.11:g.95924969_95924976del, NC_000004.11:g.95924970_95924976del, NC_000004.11:g.95924971_95924976del, NC_000004.11:g.95924972_95924976del, NC_000004.11:g.95924973_95924976del, NC_000004.11:g.95924974_95924976del, NC_000004.11:g.95924975_95924976del, NC_000004.11:g.95924976del, NC_000004.11:g.95924976dup, NC_000004.11:g.95924975_95924976dup, NC_000004.11:g.95924974_95924976dup, NC_000004.11:g.95924973_95924976dup, NC_000004.11:g.95924972_95924976dup, NC_000004.11:g.95924971_95924976dup, NC_000004.11:g.95924970_95924976dup, NC_000004.11:g.95924969_95924976dup, NC_000004.11:g.95924968_95924976dup, NC_000004.11:g.95924967_95924976dup, NC_000004.11:g.95924966_95924976dup, NC_000004.11:g.95924965_95924976dup, NC_000004.11:g.95924963_95924976dup, NC_000004.11:g.95924962_95924976dup, NC_000004.11:g.95924961_95924976dup, NC_000004.11:g.95924958_95924976dup, NC_000004.11:g.95924954_95924976dup, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95924976_95924977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250836_250849del, NG_009245.1:g.250837_250849del, NG_009245.1:g.250838_250849del, NG_009245.1:g.250839_250849del, NG_009245.1:g.250840_250849del, NG_009245.1:g.250841_250849del, NG_009245.1:g.250842_250849del, NG_009245.1:g.250843_250849del, NG_009245.1:g.250844_250849del, NG_009245.1:g.250845_250849del, NG_009245.1:g.250846_250849del, NG_009245.1:g.250847_250849del, NG_009245.1:g.250848_250849del, NG_009245.1:g.250849del, NG_009245.1:g.250849dup, NG_009245.1:g.250848_250849dup, NG_009245.1:g.250847_250849dup, NG_009245.1:g.250846_250849dup, NG_009245.1:g.250845_250849dup, NG_009245.1:g.250844_250849dup, NG_009245.1:g.250843_250849dup, NG_009245.1:g.250842_250849dup, NG_009245.1:g.250841_250849dup, NG_009245.1:g.250840_250849dup, NG_009245.1:g.250839_250849dup, NG_009245.1:g.250838_250849dup, NG_009245.1:g.250836_250849dup, NG_009245.1:g.250835_250849dup, NG_009245.1:g.250834_250849dup, NG_009245.1:g.250831_250849dup, NG_009245.1:g.250827_250849dup, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009245.1:g.250849_250850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149145715211.

rs1491457152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:95026109 (GRCh38)
4:95947261 (GRCh37)
Canonical SPDI:: NC_000004.12:95026109:C:CC
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00011/14 (GnomAD)
HGVS:: NC_000004.12:g.95026110dup, NC_000004.11:g.95947261dup, NG_009245.1:g.273134dup

Select item 149144653812.

rs1491446538 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:94770888 (GRCh38)
4:95692039 (GRCh37)
Canonical SPDI:: NC_000004.12:94770887:CA:
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.94770888_94770889del, NC_000004.11:g.95692039_95692040del, NG_009245.1:g.17912_17913del

Select item 149144512913.

rs1491445129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:94966503 (GRCh38)
4:95887655 (GRCh37)
Canonical SPDI:: NC_000004.12:94966503:T:TT
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.94966504dup, NC_000004.11:g.95887655dup, NG_009245.1:g.213528dup

Select item 149144176214.

rs1491441762 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:94993760 (GRCh38)
4:95914911 (GRCh37)
Canonical SPDI:: NC_000004.12:94993759:CA:
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.94993760_94993761del, NC_000004.11:g.95914911_95914912del, NG_009245.1:g.240784_240785del

Select item 149144156215.

rs1491441562 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:95155475 (GRCh38)
4:96076626 (GRCh37)
Canonical SPDI:: NC_000004.12:95155474:CT:
Gene:: BMPR1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.95155475_95155476del, NC_000004.11:g.96076626_96076627del, NG_009245.1:g.402499_402500del, NM_001203.3:c.*802_*803del, NM_001203.2:c.*802_*803del, NM_001256792.2:c.*802_*803del, NM_001256792.1:c.*802_*803del, NM_001256793.2:c.*802_*803del, NM_001256793.1:c.*802_*803del, NM_001256794.1:c.*802_*803del, XM_011532201.3:c.*802_*803del, XM_011532201.2:c.*802_*803del, XM_011532201.1:c.*802_*803del, XM_017008559.2:c.*802_*803del, XM_017008559.1:c.*802_*803del, XM_017008558.2:c.*802_*803del, XM_017008558.1:c.*802_*803del, XM_017008560.2:c.*802_*803del, XM_017008560.1:c.*802_*803del, XM_047416095.1:c.*802_*803del, XM_047416091.1:c.*802_*803del, XM_047416093.1:c.*802_*803del, XM_047416094.1:c.*802_*803del

Select item 149142809316.

rs1491428093 has merged into rs34395946 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:94993771 (GRCh38)
4:95914922 (GRCh37)
Canonical SPDI:: NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94993760:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.94993771_94993784del, NC_000004.12:g.94993773_94993784del, NC_000004.12:g.94993775_94993784del, NC_000004.12:g.94993776_94993784del, NC_000004.12:g.94993777_94993784del, NC_000004.12:g.94993778_94993784del, NC_000004.12:g.94993779_94993784del, NC_000004.12:g.94993780_94993784del, NC_000004.12:g.94993781_94993784del, NC_000004.12:g.94993782_94993784del, NC_000004.12:g.94993783_94993784del, NC_000004.12:g.94993784del, NC_000004.12:g.94993784dup, NC_000004.12:g.94993783_94993784dup, NC_000004.12:g.94993782_94993784dup, NC_000004.12:g.94993781_94993784dup, NC_000004.12:g.94993780_94993784dup, NC_000004.12:g.94993779_94993784dup, NC_000004.12:g.94993778_94993784dup, NC_000004.12:g.94993777_94993784dup, NC_000004.12:g.94993771_94993784dup, NC_000004.12:g.94993769_94993784dup, NC_000004.12:g.94993784_94993785insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94993784_94993785insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94993784_94993785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94993784_94993785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95914922_95914935del, NC_000004.11:g.95914924_95914935del, NC_000004.11:g.95914926_95914935del, NC_000004.11:g.95914927_95914935del, NC_000004.11:g.95914928_95914935del, NC_000004.11:g.95914929_95914935del, NC_000004.11:g.95914930_95914935del, NC_000004.11:g.95914931_95914935del, NC_000004.11:g.95914932_95914935del, NC_000004.11:g.95914933_95914935del, NC_000004.11:g.95914934_95914935del, NC_000004.11:g.95914935del, NC_000004.11:g.95914935dup, NC_000004.11:g.95914934_95914935dup, NC_000004.11:g.95914933_95914935dup, NC_000004.11:g.95914932_95914935dup, NC_000004.11:g.95914931_95914935dup, NC_000004.11:g.95914930_95914935dup, NC_000004.11:g.95914929_95914935dup, NC_000004.11:g.95914928_95914935dup, NC_000004.11:g.95914922_95914935dup, NC_000004.11:g.95914920_95914935dup, NC_000004.11:g.95914935_95914936insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95914935_95914936insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95914935_95914936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95914935_95914936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009245.1:g.240795_240808del, NG_009245.1:g.240797_240808del, NG_009245.1:g.240799_240808del, NG_009245.1:g.240800_240808del, NG_009245.1:g.240801_240808del, NG_009245.1:g.240802_240808del, NG_009245.1:g.240803_240808del, NG_009245.1:g.240804_240808del, NG_009245.1:g.240805_240808del, NG_009245.1:g.240806_240808del, NG_009245.1:g.240807_240808del, NG_009245.1:g.240808del, NG_009245.1:g.240808dup, NG_009245.1:g.240807_240808dup, NG_009245.1:g.240806_240808dup, NG_009245.1:g.240805_240808dup, NG_009245.1:g.240804_240808dup, NG_009245.1:g.240803_240808dup, NG_009245.1:g.240802_240808dup, NG_009245.1:g.240801_240808dup, NG_009245.1:g.240795_240808dup, NG_009245.1:g.240793_240808dup, NG_009245.1:g.240808_240809insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009245.1:g.240808_240809insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009245.1:g.240808_240809insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009245.1:g.240808_240809insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149141230017.

rs1491412300 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:94770182 (GRCh38)
4:95691333 (GRCh37)
Canonical SPDI:: NC_000004.12:94770178:TGTGT:TGT
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.04696/557 (ALFA)
-=0.00024/5 (GnomAD)
HGVS:: NC_000004.12:g.94770180GT[1], NC_000004.11:g.95691331GT[1], NG_009245.1:g.17204GT[1]

Select item 149139324718.

rs1491393247 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTCCCAAAAA [Show Flanks]
Chromosome:: 4:94882955 (GRCh38)
4:95804107 (GRCh37)
Canonical SPDI:: NC_000004.12:94882955::TTTCCCAAAAA
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTCCCAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.94882955_94882956insTTTCCCAAAAA, NC_000004.11:g.95804106_95804107insTTTCCCAAAAA, NG_009245.1:g.129979_129980insTTTCCCAAAAA

Select item 149138651019.

rs1491386510 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:95020577 (GRCh38)
4:95941728 (GRCh37)
Canonical SPDI:: NC_000004.12:95020576:CA:
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01728/205 (ALFA)
-=0.00081/23 (TOMMO)
HGVS:: NC_000004.12:g.95020577_95020578del, NC_000004.11:g.95941728_95941729del, NG_009245.1:g.267601_267602del

Select item 149138039720.

rs1491380397 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:94966505 (GRCh38)
4:95887656 (GRCh37)
Canonical SPDI:: NC_000004.12:94966502:ATAT:AT
Gene:: BMPR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.94966503AT[1], NC_000004.11:g.95887654AT[1], NG_009245.1:g.213527AT[1]

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