Links from Gene
Items: 1 to 20 of 14872
1.
rs1491586916 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:191246067
(GRCh38)
3:190963856
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191246066:CA:
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02015/239
(
ALFA)
-=0.00074/26
(GnomAD)
-=0.00346/97
(TOMMO)
- HGVS:
4.
rs1491568322 has merged into rs1384565196 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 3:191232524
(GRCh38)
3:190950313
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191232521:AAAA:AA,NC_000003.12:191232521:AAAA:AAAAAA
- Gene:
- OSTN (Varview), OSTN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0.00006/1
(
ALFA)
-=0.00016/1
(1000Genomes)
-=0.00022/1
(Estonian)
- HGVS:
5.
rs1491440047 has merged into rs150259369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 3:191232614
(GRCh38)
3:190950403
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191232602:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- OSTN (Varview), OSTN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1762/99
(NorthernSweden)
- HGVS:
NC_000003.12:g.191232614_191232617del, NC_000003.12:g.191232615_191232617del, NC_000003.12:g.191232616_191232617del, NC_000003.12:g.191232617del, NC_000003.12:g.191232617dup, NC_000003.12:g.191232616_191232617dup, NC_000003.12:g.191232615_191232617dup, NC_000003.11:g.190950403_190950406del, NC_000003.11:g.190950404_190950406del, NC_000003.11:g.190950405_190950406del, NC_000003.11:g.190950406del, NC_000003.11:g.190950406dup, NC_000003.11:g.190950405_190950406dup, NC_000003.11:g.190950404_190950406dup
6.
rs1491426801 has merged into rs575332839 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:191241179
(GRCh38)
3:190958968
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191241167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.0192/96
(1000Genomes)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000003.12:g.191241179_191241196del, NC_000003.12:g.191241180_191241196del, NC_000003.12:g.191241181_191241196del, NC_000003.12:g.191241182_191241196del, NC_000003.12:g.191241183_191241196del, NC_000003.12:g.191241184_191241196del, NC_000003.12:g.191241185_191241196del, NC_000003.12:g.191241186_191241196del, NC_000003.12:g.191241187_191241196del, NC_000003.12:g.191241188_191241196del, NC_000003.12:g.191241189_191241196del, NC_000003.12:g.191241190_191241196del, NC_000003.12:g.191241191_191241196del, NC_000003.12:g.191241192_191241196del, NC_000003.12:g.191241193_191241196del, NC_000003.12:g.191241194_191241196del, NC_000003.12:g.191241195_191241196del, NC_000003.12:g.191241196del, NC_000003.12:g.191241196dup, NC_000003.12:g.191241195_191241196dup, NC_000003.12:g.191241194_191241196dup, NC_000003.12:g.191241193_191241196dup, NC_000003.12:g.191241192_191241196dup, NC_000003.12:g.191241191_191241196dup, NC_000003.12:g.191241189_191241196dup, NC_000003.12:g.191241187_191241196dup, NC_000003.12:g.191241186_191241196dup, NC_000003.12:g.191241185_191241196dup, NC_000003.12:g.191241184_191241196dup, NC_000003.12:g.191241182_191241196dup, NC_000003.12:g.191241181_191241196dup, NC_000003.12:g.191241178_191241196dup, NC_000003.12:g.191241177_191241196dup, NC_000003.12:g.191241176_191241196dup, NC_000003.12:g.191241175_191241196dup, NC_000003.12:g.191241174_191241196dup, NC_000003.12:g.191241173_191241196dup, NC_000003.12:g.191241172_191241196dup, NC_000003.12:g.191241171_191241196dup, NC_000003.12:g.191241169_191241196dup, NC_000003.12:g.191241168_191241196dup, NC_000003.12:g.191241196_191241197insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191241196_191241197insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190958968_190958985del, NC_000003.11:g.190958969_190958985del, NC_000003.11:g.190958970_190958985del, NC_000003.11:g.190958971_190958985del, NC_000003.11:g.190958972_190958985del, NC_000003.11:g.190958973_190958985del, NC_000003.11:g.190958974_190958985del, NC_000003.11:g.190958975_190958985del, NC_000003.11:g.190958976_190958985del, NC_000003.11:g.190958977_190958985del, NC_000003.11:g.190958978_190958985del, NC_000003.11:g.190958979_190958985del, NC_000003.11:g.190958980_190958985del, NC_000003.11:g.190958981_190958985del, NC_000003.11:g.190958982_190958985del, NC_000003.11:g.190958983_190958985del, NC_000003.11:g.190958984_190958985del, NC_000003.11:g.190958985del, NC_000003.11:g.190958985dup, NC_000003.11:g.190958984_190958985dup, NC_000003.11:g.190958983_190958985dup, NC_000003.11:g.190958982_190958985dup, NC_000003.11:g.190958981_190958985dup, NC_000003.11:g.190958980_190958985dup, NC_000003.11:g.190958978_190958985dup, NC_000003.11:g.190958976_190958985dup, NC_000003.11:g.190958975_190958985dup, NC_000003.11:g.190958974_190958985dup, NC_000003.11:g.190958973_190958985dup, NC_000003.11:g.190958971_190958985dup, NC_000003.11:g.190958970_190958985dup, NC_000003.11:g.190958967_190958985dup, NC_000003.11:g.190958966_190958985dup, NC_000003.11:g.190958965_190958985dup, NC_000003.11:g.190958964_190958985dup, NC_000003.11:g.190958963_190958985dup, NC_000003.11:g.190958962_190958985dup, NC_000003.11:g.190958961_190958985dup, NC_000003.11:g.190958960_190958985dup, NC_000003.11:g.190958958_190958985dup, NC_000003.11:g.190958957_190958985dup, NC_000003.11:g.190958985_190958986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190958985_190958986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491388794 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:191212775
(GRCh38)
3:190930564
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191212770:ATATAT:ATAT
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0.000084/1
(
ALFA)
-=0.000037/5
(GnomAD)
-=0.000519/2
(ALSPAC)
-=0.000539/2
(TWINSUK)
- HGVS:
9.
rs1491322774 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CTC
[Show Flanks]
- Chromosome:
- 3:191212868
(GRCh38)
3:190930658
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191212868::C,NC_000003.12:191212868::CTC
- Gene:
- OSTN (Varview), OSTN-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CTC=0./0
(
ALFA)
CTC=0.00005/2
(GnomAD)
- HGVS:
11.
rs1491300209 has merged into rs34341899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:191259211
(GRCh38)
3:190977000
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191259200:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1472/737
(1000Genomes)
- HGVS:
NC_000003.12:g.191259211_191259212del, NC_000003.12:g.191259212del, NC_000003.12:g.191259212dup, NC_000003.12:g.191259211_191259212dup, NC_000003.12:g.191259210_191259212dup, NC_000003.12:g.191259209_191259212dup, NC_000003.12:g.191259208_191259212dup, NC_000003.12:g.191259207_191259212dup, NC_000003.12:g.191259206_191259212dup, NC_000003.12:g.191259201_191259212dup, NC_000003.11:g.190977000_190977001del, NC_000003.11:g.190977001del, NC_000003.11:g.190977001dup, NC_000003.11:g.190977000_190977001dup, NC_000003.11:g.190976999_190977001dup, NC_000003.11:g.190976998_190977001dup, NC_000003.11:g.190976997_190977001dup, NC_000003.11:g.190976996_190977001dup, NC_000003.11:g.190976995_190977001dup, NC_000003.11:g.190976990_190977001dup
12.
rs1491291421 has merged into rs397991965 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:191212875
(GRCh38)
3:190930664
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191212867:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSTN (Varview), OSTN-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.191212875_191212888del, NC_000003.12:g.191212878_191212888del, NC_000003.12:g.191212879_191212888del, NC_000003.12:g.191212880_191212888del, NC_000003.12:g.191212882_191212888del, NC_000003.12:g.191212885_191212888del, NC_000003.12:g.191212887_191212888del, NC_000003.12:g.191212888del, NC_000003.12:g.191212888dup, NC_000003.12:g.191212887_191212888dup, NC_000003.12:g.191212886_191212888dup, NC_000003.12:g.191212885_191212888dup, NC_000003.12:g.191212884_191212888dup, NC_000003.12:g.191212883_191212888dup, NC_000003.12:g.191212882_191212888dup, NC_000003.12:g.191212881_191212888dup, NC_000003.12:g.191212879_191212888dup, NC_000003.12:g.191212878_191212888dup, NC_000003.12:g.191212877_191212888dup, NC_000003.12:g.191212876_191212888dup, NC_000003.12:g.191212874_191212888dup, NC_000003.12:g.191212873_191212888dup, NC_000003.12:g.191212872_191212888dup, NC_000003.12:g.191212871_191212888dup, NC_000003.12:g.191212869_191212888dup, NC_000003.12:g.191212868_191212888dup, NC_000003.12:g.191212888_191212889insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191212888_191212889insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190930664_190930677del, NC_000003.11:g.190930667_190930677del, NC_000003.11:g.190930668_190930677del, NC_000003.11:g.190930669_190930677del, NC_000003.11:g.190930671_190930677del, NC_000003.11:g.190930674_190930677del, NC_000003.11:g.190930676_190930677del, NC_000003.11:g.190930677del, NC_000003.11:g.190930677dup, NC_000003.11:g.190930676_190930677dup, NC_000003.11:g.190930675_190930677dup, NC_000003.11:g.190930674_190930677dup, NC_000003.11:g.190930673_190930677dup, NC_000003.11:g.190930672_190930677dup, NC_000003.11:g.190930671_190930677dup, NC_000003.11:g.190930670_190930677dup, NC_000003.11:g.190930668_190930677dup, NC_000003.11:g.190930667_190930677dup, NC_000003.11:g.190930666_190930677dup, NC_000003.11:g.190930665_190930677dup, NC_000003.11:g.190930663_190930677dup, NC_000003.11:g.190930662_190930677dup, NC_000003.11:g.190930661_190930677dup, NC_000003.11:g.190930660_190930677dup, NC_000003.11:g.190930658_190930677dup, NC_000003.11:g.190930657_190930677dup, NC_000003.11:g.190930677_190930678insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190930677_190930678insTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491280177 has merged into rs200599634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 3:191256639
(GRCh38)
3:190974428
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:191256627:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
14.
rs1491275286 has merged into rs149962240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:191246078
(GRCh38)
3:190963867
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:191246067:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.191246078_191246092del, NC_000003.12:g.191246079_191246092del, NC_000003.12:g.191246080_191246092del, NC_000003.12:g.191246081_191246092del, NC_000003.12:g.191246082_191246092del, NC_000003.12:g.191246083_191246092del, NC_000003.12:g.191246084_191246092del, NC_000003.12:g.191246085_191246092del, NC_000003.12:g.191246086_191246092del, NC_000003.12:g.191246087_191246092del, NC_000003.12:g.191246088_191246092del, NC_000003.12:g.191246089_191246092del, NC_000003.12:g.191246090_191246092del, NC_000003.12:g.191246091_191246092del, NC_000003.12:g.191246092del, NC_000003.12:g.191246092dup, NC_000003.12:g.191246091_191246092dup, NC_000003.12:g.191246090_191246092dup, NC_000003.12:g.191246089_191246092dup, NC_000003.12:g.191246086_191246092dup, NC_000003.12:g.191246085_191246092dup, NC_000003.12:g.191246077_191246092dup, NC_000003.12:g.191246068_191246092dup, NC_000003.12:g.191246092_191246093insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.191246092_191246093insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.190963867_190963881del, NC_000003.11:g.190963868_190963881del, NC_000003.11:g.190963869_190963881del, NC_000003.11:g.190963870_190963881del, NC_000003.11:g.190963871_190963881del, NC_000003.11:g.190963872_190963881del, NC_000003.11:g.190963873_190963881del, NC_000003.11:g.190963874_190963881del, NC_000003.11:g.190963875_190963881del, NC_000003.11:g.190963876_190963881del, NC_000003.11:g.190963877_190963881del, NC_000003.11:g.190963878_190963881del, NC_000003.11:g.190963879_190963881del, NC_000003.11:g.190963880_190963881del, NC_000003.11:g.190963881del, NC_000003.11:g.190963881dup, NC_000003.11:g.190963880_190963881dup, NC_000003.11:g.190963879_190963881dup, NC_000003.11:g.190963878_190963881dup, NC_000003.11:g.190963875_190963881dup, NC_000003.11:g.190963874_190963881dup, NC_000003.11:g.190963866_190963881dup, NC_000003.11:g.190963857_190963881dup, NC_000003.11:g.190963881_190963882insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.190963881_190963882insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1491152408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:191255900
(GRCh38)
3:190973690
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191255900:TTTTT:TTTTTT
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000566/9
(TOMMO)
- HGVS:
16.
rs1491124254 has merged into rs372562335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:191259863
(GRCh38)
3:190977652
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:191259852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.191259863_191259870del, NC_000003.12:g.191259866_191259870del, NC_000003.12:g.191259868_191259870del, NC_000003.12:g.191259869_191259870del, NC_000003.12:g.191259870del, NC_000003.12:g.191259870dup, NC_000003.12:g.191259869_191259870dup, NC_000003.12:g.191259868_191259870dup, NC_000003.12:g.191259867_191259870dup, NC_000003.12:g.191259866_191259870dup, NC_000003.12:g.191259865_191259870dup, NC_000003.12:g.191259864_191259870dup, NC_000003.12:g.191259863_191259870dup, NC_000003.12:g.191259862_191259870dup, NC_000003.12:g.191259861_191259870dup, NC_000003.12:g.191259860_191259870dup, NC_000003.12:g.191259858_191259870dup, NC_000003.12:g.191259857_191259870dup, NC_000003.12:g.191259853_191259870dup, NC_000003.12:g.191259870_191259871insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191259870_191259871insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.191259870_191259871insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190977652_190977659del, NC_000003.11:g.190977655_190977659del, NC_000003.11:g.190977657_190977659del, NC_000003.11:g.190977658_190977659del, NC_000003.11:g.190977659del, NC_000003.11:g.190977659dup, NC_000003.11:g.190977658_190977659dup, NC_000003.11:g.190977657_190977659dup, NC_000003.11:g.190977656_190977659dup, NC_000003.11:g.190977655_190977659dup, NC_000003.11:g.190977654_190977659dup, NC_000003.11:g.190977653_190977659dup, NC_000003.11:g.190977652_190977659dup, NC_000003.11:g.190977651_190977659dup, NC_000003.11:g.190977650_190977659dup, NC_000003.11:g.190977649_190977659dup, NC_000003.11:g.190977647_190977659dup, NC_000003.11:g.190977646_190977659dup, NC_000003.11:g.190977642_190977659dup, NC_000003.11:g.190977659_190977660insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190977659_190977660insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.190977659_190977660insTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1491068910 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 3:191256772
(GRCh38)
3:190974561
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191256771:AA:
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
19.
rs1491033460 has merged into rs1553816617 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT
[Show Flanks]
- Chromosome:
- 3:191205458
(GRCh38)
3:190923247
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191205443:ATATATATATATATAT:ATATATATATATAT,NC_000003.12:191205443:ATATATATATATATAT:ATATATATATATATATAT,NC_000003.12:191205443:ATATATATATATATAT:ATATATATATATATATATAT
- Gene:
- OSTN (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATAT=0./0
(
ALFA)
-=0.00056/1
(Korea1K)
-=0.00167/1
(NorthernSweden)
AT=0.0047/77
(TOMMO)
-=0.11624/448
(ALSPAC)
-=0.12864/477
(TWINSUK)
- HGVS:
20.
rs1490998733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:191258992
(GRCh38)
3:190976781
(GRCh37)
- Canonical SPDI:
- NC_000003.12:191258991:G:A
- Gene:
- OSTN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS: