SNP Links for Nucleotide (Select 298566263) - SNP

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Select item 14915678781.

rs1491567878 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:51972424 (GRCh38)
12:52366208 (GRCh37)
Canonical SPDI:: NC_000012.12:51972423:TA:
Gene:: ACVR1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.51972424_51972425del, NC_000012.11:g.52366208_52366209del, NG_022926.1:g.25758_25759del, XM_047429857.1:c.-1665_-1664del

Select item 14915405372.

rs1491540537 has merged into rs202177119 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 12:51990297 (GRCh38)
12:52384081 (GRCh37)
Canonical SPDI:: NC_000012.12:51990286:CACACACACACACACA:CACACACACA,NC_000012.12:51990286:CACACACACACACACA:CACACACACACA,NC_000012.12:51990286:CACACACACACACACA:CACACACACACACA,NC_000012.12:51990286:CACACACACACACACA:CACACACACACACACACA,NC_000012.12:51990286:CACACACACACACACA:CACACACACACACACACACA
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.51990287CA[5], NC_000012.12:g.51990287CA[6], NC_000012.12:g.51990287CA[7], NC_000012.12:g.51990287CA[9], NC_000012.12:g.51990287CA[10], NC_000012.11:g.52384071CA[5], NC_000012.11:g.52384071CA[6], NC_000012.11:g.52384071CA[7], NC_000012.11:g.52384071CA[9], NC_000012.11:g.52384071CA[10], NG_022926.1:g.43621CA[5], NG_022926.1:g.43621CA[6], NG_022926.1:g.43621CA[7], NG_022926.1:g.43621CA[9], NG_022926.1:g.43621CA[10]

Select item 14914274963.

rs1491427496 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:51972424 (GRCh38)
12:52366209 (GRCh37)
Canonical SPDI:: NC_000012.12:51972424::G
Gene:: ACVR1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/12 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.51972424_51972425insG, NC_000012.11:g.52366208_52366209insG, NG_022926.1:g.25758_25759insG, XM_047429857.1:c.-1665_-1664insG

Select item 14913581104.

rs1491358110 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:51990287 (GRCh38)
12:52384072 (GRCh37)
Canonical SPDI:: NC_000012.12:51990287:A:AA
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000012.12:g.51990288dup, NC_000012.11:g.52384072dup, NG_022926.1:g.43622dup

Select item 14911911365.

rs1491191136 has merged into rs141955888 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 12:51974520 (GRCh38)
12:52368304 (GRCh37)
Canonical SPDI:: NC_000012.12:51974508:GTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000012.12:51974508:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000012.12:51974508:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000012.12:51974508:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.00337/13 (ALSPAC)
-=0.22957/1028 (Estonian)
-=0.255/153 (NorthernSweden)
-=0.28704/62 (Vietnamese)
-=0.29293/1467 (1000Genomes)
-=0.38919/713 (Korea1K)
HGVS:: NC_000012.12:g.51974510TG[5], NC_000012.12:g.51974510TG[6], NC_000012.12:g.51974510TG[8], NC_000012.12:g.51974510TG[9], NC_000012.11:g.52368294TG[5], NC_000012.11:g.52368294TG[6], NC_000012.11:g.52368294TG[8], NC_000012.11:g.52368294TG[9], NG_022926.1:g.27844TG[5], NG_022926.1:g.27844TG[6], NG_022926.1:g.27844TG[8], NG_022926.1:g.27844TG[9]

Select item 14911729316.

rs1491172931 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:51957441 (GRCh38)
12:52351225 (GRCh37)
Canonical SPDI:: NC_000012.12:51957440:CA:
Gene:: ACVR1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00378/14 (TWINSUK)
-=0.00804/31 (ALSPAC)
HGVS:: NC_000012.12:g.51957441_51957442del, NC_000012.11:g.52351225_52351226del, NG_022926.1:g.10775_10776del

Select item 14911652947.

rs1491165294 has merged into rs71443237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:51977616 (GRCh38)
12:52371400 (GRCh37)
Canonical SPDI:: NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.51977616_51977628del, NC_000012.12:g.51977617_51977628del, NC_000012.12:g.51977618_51977628del, NC_000012.12:g.51977619_51977628del, NC_000012.12:g.51977620_51977628del, NC_000012.12:g.51977621_51977628del, NC_000012.12:g.51977622_51977628del, NC_000012.12:g.51977623_51977628del, NC_000012.12:g.51977624_51977628del, NC_000012.12:g.51977625_51977628del, NC_000012.12:g.51977626_51977628del, NC_000012.12:g.51977627_51977628del, NC_000012.12:g.51977628del, NC_000012.12:g.51977628dup, NC_000012.12:g.51977627_51977628dup, NC_000012.12:g.51977626_51977628dup, NC_000012.12:g.51977625_51977628dup, NC_000012.12:g.51977623_51977628dup, NC_000012.12:g.51977621_51977628dup, NC_000012.12:g.51977620_51977628dup, NC_000012.12:g.51977616_51977628dup, NC_000012.12:g.51977615_51977628dup, NC_000012.12:g.51977612_51977628dup, NC_000012.12:g.51977628_51977629insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.51977628_51977629insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.51977628_51977629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.52371400_52371412del, NC_000012.11:g.52371401_52371412del, NC_000012.11:g.52371402_52371412del, NC_000012.11:g.52371403_52371412del, NC_000012.11:g.52371404_52371412del, NC_000012.11:g.52371405_52371412del, NC_000012.11:g.52371406_52371412del, NC_000012.11:g.52371407_52371412del, NC_000012.11:g.52371408_52371412del, NC_000012.11:g.52371409_52371412del, NC_000012.11:g.52371410_52371412del, NC_000012.11:g.52371411_52371412del, NC_000012.11:g.52371412del, NC_000012.11:g.52371412dup, NC_000012.11:g.52371411_52371412dup, NC_000012.11:g.52371410_52371412dup, NC_000012.11:g.52371409_52371412dup, NC_000012.11:g.52371407_52371412dup, NC_000012.11:g.52371405_52371412dup, NC_000012.11:g.52371404_52371412dup, NC_000012.11:g.52371400_52371412dup, NC_000012.11:g.52371399_52371412dup, NC_000012.11:g.52371396_52371412dup, NC_000012.11:g.52371412_52371413insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.52371412_52371413insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.52371412_52371413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_022926.1:g.30950_30962del, NG_022926.1:g.30951_30962del, NG_022926.1:g.30952_30962del, NG_022926.1:g.30953_30962del, NG_022926.1:g.30954_30962del, NG_022926.1:g.30955_30962del, NG_022926.1:g.30956_30962del, NG_022926.1:g.30957_30962del, NG_022926.1:g.30958_30962del, NG_022926.1:g.30959_30962del, NG_022926.1:g.30960_30962del, NG_022926.1:g.30961_30962del, NG_022926.1:g.30962del, NG_022926.1:g.30962dup, NG_022926.1:g.30961_30962dup, NG_022926.1:g.30960_30962dup, NG_022926.1:g.30959_30962dup, NG_022926.1:g.30957_30962dup, NG_022926.1:g.30955_30962dup, NG_022926.1:g.30954_30962dup, NG_022926.1:g.30950_30962dup, NG_022926.1:g.30949_30962dup, NG_022926.1:g.30946_30962dup, NG_022926.1:g.30962_30963insTTTTTTTTTTTTTTTTTTTTTTTT, NG_022926.1:g.30962_30963insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_022926.1:g.30962_30963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911143198.

rs1491114319 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:51979466 (GRCh38)
12:52373250 (GRCh37)
Canonical SPDI:: NC_000012.12:51979465:CA:
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.51979466_51979467del, NC_000012.11:g.52373250_52373251del, NG_022926.1:g.32800_32801del

Select item 14910786309.

rs1491078630 has merged into rs11404836 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:51953604 (GRCh38)
12:52347388 (GRCh37)
Canonical SPDI:: NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:51953594:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.270966/1357 (1000Genomes)
HGVS:: NC_000012.12:g.51953604_51953609del, NC_000012.12:g.51953605_51953609del, NC_000012.12:g.51953606_51953609del, NC_000012.12:g.51953607_51953609del, NC_000012.12:g.51953608_51953609del, NC_000012.12:g.51953609del, NC_000012.12:g.51953609dup, NC_000012.12:g.51953608_51953609dup, NC_000012.12:g.51953607_51953609dup, NC_000012.12:g.51953606_51953609dup, NC_000012.12:g.51953605_51953609dup, NC_000012.12:g.51953601_51953609dup, NC_000012.11:g.52347388_52347393del, NC_000012.11:g.52347389_52347393del, NC_000012.11:g.52347390_52347393del, NC_000012.11:g.52347391_52347393del, NC_000012.11:g.52347392_52347393del, NC_000012.11:g.52347393del, NC_000012.11:g.52347393dup, NC_000012.11:g.52347392_52347393dup, NC_000012.11:g.52347391_52347393dup, NC_000012.11:g.52347390_52347393dup, NC_000012.11:g.52347389_52347393dup, NC_000012.11:g.52347385_52347393dup, NG_022926.1:g.6938_6943del, NG_022926.1:g.6939_6943del, NG_022926.1:g.6940_6943del, NG_022926.1:g.6941_6943del, NG_022926.1:g.6942_6943del, NG_022926.1:g.6943del, NG_022926.1:g.6943dup, NG_022926.1:g.6942_6943dup, NG_022926.1:g.6941_6943dup, NG_022926.1:g.6940_6943dup, NG_022926.1:g.6939_6943dup, NG_022926.1:g.6935_6943dup

Select item 149106585210.

rs1491065852 has merged into rs71443237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:51977616 (GRCh38)
12:52371400 (GRCh37)
Canonical SPDI:: NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:51977607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.51977616_51977628del, NC_000012.12:g.51977617_51977628del, NC_000012.12:g.51977618_51977628del, NC_000012.12:g.51977619_51977628del, NC_000012.12:g.51977620_51977628del, NC_000012.12:g.51977621_51977628del, NC_000012.12:g.51977622_51977628del, NC_000012.12:g.51977623_51977628del, NC_000012.12:g.51977624_51977628del, NC_000012.12:g.51977625_51977628del, NC_000012.12:g.51977626_51977628del, NC_000012.12:g.51977627_51977628del, NC_000012.12:g.51977628del, NC_000012.12:g.51977628dup, NC_000012.12:g.51977627_51977628dup, NC_000012.12:g.51977626_51977628dup, NC_000012.12:g.51977625_51977628dup, NC_000012.12:g.51977623_51977628dup, NC_000012.12:g.51977621_51977628dup, NC_000012.12:g.51977620_51977628dup, NC_000012.12:g.51977616_51977628dup, NC_000012.12:g.51977615_51977628dup, NC_000012.12:g.51977612_51977628dup, NC_000012.12:g.51977628_51977629insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.51977628_51977629insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.51977628_51977629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.52371400_52371412del, NC_000012.11:g.52371401_52371412del, NC_000012.11:g.52371402_52371412del, NC_000012.11:g.52371403_52371412del, NC_000012.11:g.52371404_52371412del, NC_000012.11:g.52371405_52371412del, NC_000012.11:g.52371406_52371412del, NC_000012.11:g.52371407_52371412del, NC_000012.11:g.52371408_52371412del, NC_000012.11:g.52371409_52371412del, NC_000012.11:g.52371410_52371412del, NC_000012.11:g.52371411_52371412del, NC_000012.11:g.52371412del, NC_000012.11:g.52371412dup, NC_000012.11:g.52371411_52371412dup, NC_000012.11:g.52371410_52371412dup, NC_000012.11:g.52371409_52371412dup, NC_000012.11:g.52371407_52371412dup, NC_000012.11:g.52371405_52371412dup, NC_000012.11:g.52371404_52371412dup, NC_000012.11:g.52371400_52371412dup, NC_000012.11:g.52371399_52371412dup, NC_000012.11:g.52371396_52371412dup, NC_000012.11:g.52371412_52371413insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.52371412_52371413insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.52371412_52371413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_022926.1:g.30950_30962del, NG_022926.1:g.30951_30962del, NG_022926.1:g.30952_30962del, NG_022926.1:g.30953_30962del, NG_022926.1:g.30954_30962del, NG_022926.1:g.30955_30962del, NG_022926.1:g.30956_30962del, NG_022926.1:g.30957_30962del, NG_022926.1:g.30958_30962del, NG_022926.1:g.30959_30962del, NG_022926.1:g.30960_30962del, NG_022926.1:g.30961_30962del, NG_022926.1:g.30962del, NG_022926.1:g.30962dup, NG_022926.1:g.30961_30962dup, NG_022926.1:g.30960_30962dup, NG_022926.1:g.30959_30962dup, NG_022926.1:g.30957_30962dup, NG_022926.1:g.30955_30962dup, NG_022926.1:g.30954_30962dup, NG_022926.1:g.30950_30962dup, NG_022926.1:g.30949_30962dup, NG_022926.1:g.30946_30962dup, NG_022926.1:g.30962_30963insTTTTTTTTTTTTTTTTTTTTTTTT, NG_022926.1:g.30962_30963insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_022926.1:g.30962_30963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099039511.

rs1490990395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:51958779 (GRCh38)
12:52352563 (GRCh37)
Canonical SPDI:: NC_000012.12:51958778:C:A,NC_000012.12:51958778:C:G
Gene:: ACVR1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.51958779C>A, NC_000012.12:g.51958779C>G, NC_000012.11:g.52352563C>A, NC_000012.11:g.52352563C>G, NG_022926.1:g.12113C>A, NG_022926.1:g.12113C>G

Select item 149097853512.

rs1490978535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:51958306 (GRCh38)
12:52352090 (GRCh37)
Canonical SPDI:: NC_000012.12:51958305:C:G
Gene:: ACVR1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.51958306C>G, NC_000012.11:g.52352090C>G, NG_022926.1:g.11640C>G

Select item 149096008813.

rs1490960088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:51956633 (GRCh38)
12:52350417 (GRCh37)
Canonical SPDI:: NC_000012.12:51956632:A:C
Gene:: ACVR1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.51956633A>C, NC_000012.11:g.52350417A>C, NG_022926.1:g.9967A>C

Select item 149095062814.

rs1490950628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:51957063 (GRCh38)
12:52350847 (GRCh37)
Canonical SPDI:: NC_000012.12:51957062:G:T
Gene:: ACVR1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.51957063G>T, NC_000012.11:g.52350847G>T, NG_022926.1:g.10397G>T

Select item 149088174415.

rs1490881744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:51973862 (GRCh38)
12:52367646 (GRCh37)
Canonical SPDI:: NC_000012.12:51973861:C:T
Gene:: ACVR1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000012.12:g.51973862C>T, NC_000012.11:g.52367646C>T, NG_022926.1:g.27196C>T, XM_047429857.1:c.-227C>T

Select item 149084938216.

rs1490849382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:51988741 (GRCh38)
12:52382525 (GRCh37)
Canonical SPDI:: NC_000012.12:51988740:A:G
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.51988741A>G, NC_000012.11:g.52382525A>G, NG_022926.1:g.42075A>G

Select item 149080780317.

rs1490807803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:51995715 (GRCh38)
12:52389499 (GRCh37)
Canonical SPDI:: NC_000012.12:51995714:G:A
Gene:: ACVR1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000012.12:g.51995715G>A, NC_000012.11:g.52389499G>A, NG_022926.1:g.49049G>A, NM_004302.5:c.*1605G>A, NM_004302.4:c.*1605G>A, NM_020328.4:c.*1605G>A, NM_020328.3:c.*1605G>A, NM_020327.4:c.*1605G>A, NM_020327.3:c.*1605G>A, XM_047429857.1:c.*1605G>A, XM_047429858.1:c.*1605G>A, XM_047429856.1:c.*1605G>A

Select item 149075906418.

rs1490759064 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:51979476 (GRCh38)
12:52373261 (GRCh37)
Canonical SPDI:: NC_000012.12:51979476::G
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.51979476_51979477insG, NC_000012.11:g.52373260_52373261insG, NG_022926.1:g.32810_32811insG

Select item 149068976219.

rs1490689762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 12:51996825 (GRCh38)
12:52390610 (GRCh37)
Canonical SPDI:: NC_000012.12:51996825:CTCT:CTCTCT
Gene:: ACVR1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCTCT=0./0 (ALFA)
CT=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.51996826CT[3], NC_000012.11:g.52390610CT[3], NG_022926.1:g.50160CT[3], NM_004302.5:c.*2716CT[3], NM_004302.4:c.*2716CT[3], NM_020328.4:c.*2716CT[3], NM_020328.3:c.*2716CT[3], NM_020327.4:c.*2716CT[3], NM_020327.3:c.*2716CT[3], XM_047429857.1:c.*2716CT[3], XM_047429858.1:c.*2716CT[3], XM_047429856.1:c.*2716CT[3]

Select item 149065042620.

rs1490650426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:51982284 (GRCh38)
12:52376068 (GRCh37)
Canonical SPDI:: NC_000012.12:51982283:G:T
Gene:: ACVR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.51982284G>T, NC_000012.11:g.52376068G>T, NG_022926.1:g.35618G>T

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