Links from Gene
Items: 1 to 20 of 1000
1.
rs1491307074 has merged into rs762346377 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:211849056
(GRCh38)
1:212022398
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849045:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.211849056_211849066del, NC_000001.11:g.211849059_211849066del, NC_000001.11:g.211849060_211849066del, NC_000001.11:g.211849061_211849066del, NC_000001.11:g.211849062_211849066del, NC_000001.11:g.211849064_211849066del, NC_000001.11:g.211849065_211849066del, NC_000001.11:g.211849066del, NC_000001.11:g.211849066dup, NC_000001.11:g.211849065_211849066dup, NC_000001.11:g.211849064_211849066dup, NC_000001.11:g.211849063_211849066dup, NC_000001.11:g.211849062_211849066dup, NC_000001.11:g.211849061_211849066dup, NC_000001.11:g.211849060_211849066dup, NC_000001.11:g.211849059_211849066dup, NC_000001.11:g.211849058_211849066dup, NC_000001.11:g.211849057_211849066dup, NC_000001.11:g.211849056_211849066dup, NC_000001.11:g.211849055_211849066dup, NC_000001.11:g.211849051_211849066dup, NC_000001.11:g.211849050_211849066dup, NC_000001.11:g.211849049_211849066dup, NC_000001.11:g.211849048_211849066dup, NC_000001.11:g.211849066_211849067insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.212022398_212022408del, NC_000001.10:g.212022401_212022408del, NC_000001.10:g.212022402_212022408del, NC_000001.10:g.212022403_212022408del, NC_000001.10:g.212022404_212022408del, NC_000001.10:g.212022406_212022408del, NC_000001.10:g.212022407_212022408del, NC_000001.10:g.212022408del, NC_000001.10:g.212022408dup, NC_000001.10:g.212022407_212022408dup, NC_000001.10:g.212022406_212022408dup, NC_000001.10:g.212022405_212022408dup, NC_000001.10:g.212022404_212022408dup, NC_000001.10:g.212022403_212022408dup, NC_000001.10:g.212022402_212022408dup, NC_000001.10:g.212022401_212022408dup, NC_000001.10:g.212022400_212022408dup, NC_000001.10:g.212022399_212022408dup, NC_000001.10:g.212022398_212022408dup, NC_000001.10:g.212022397_212022408dup, NC_000001.10:g.212022393_212022408dup, NC_000001.10:g.212022392_212022408dup, NC_000001.10:g.212022391_212022408dup, NC_000001.10:g.212022390_212022408dup, NC_000001.10:g.212022408_212022409insTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491299110 has merged into rs1159402832 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:211835821
(GRCh38)
1:212009163
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211835807:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.01018/182
(TOMMO)
- HGVS:
NC_000001.11:g.211835821_211835840del, NC_000001.11:g.211835822_211835840del, NC_000001.11:g.211835823_211835840del, NC_000001.11:g.211835824_211835840del, NC_000001.11:g.211835825_211835840del, NC_000001.11:g.211835826_211835840del, NC_000001.11:g.211835827_211835840del, NC_000001.11:g.211835828_211835840del, NC_000001.11:g.211835829_211835840del, NC_000001.11:g.211835830_211835840del, NC_000001.11:g.211835831_211835840del, NC_000001.11:g.211835832_211835840del, NC_000001.11:g.211835833_211835840del, NC_000001.11:g.211835834_211835840del, NC_000001.11:g.211835835_211835840del, NC_000001.11:g.211835836_211835840del, NC_000001.11:g.211835837_211835840del, NC_000001.11:g.211835838_211835840del, NC_000001.11:g.211835839_211835840del, NC_000001.11:g.211835840del, NC_000001.11:g.211835840dup, NC_000001.11:g.211835839_211835840dup, NC_000001.11:g.211835838_211835840dup, NC_000001.11:g.211835837_211835840dup, NC_000001.11:g.211835836_211835840dup, NC_000001.11:g.211835835_211835840dup, NC_000001.10:g.212009163_212009182del, NC_000001.10:g.212009164_212009182del, NC_000001.10:g.212009165_212009182del, NC_000001.10:g.212009166_212009182del, NC_000001.10:g.212009167_212009182del, NC_000001.10:g.212009168_212009182del, NC_000001.10:g.212009169_212009182del, NC_000001.10:g.212009170_212009182del, NC_000001.10:g.212009171_212009182del, NC_000001.10:g.212009172_212009182del, NC_000001.10:g.212009173_212009182del, NC_000001.10:g.212009174_212009182del, NC_000001.10:g.212009175_212009182del, NC_000001.10:g.212009176_212009182del, NC_000001.10:g.212009177_212009182del, NC_000001.10:g.212009178_212009182del, NC_000001.10:g.212009179_212009182del, NC_000001.10:g.212009180_212009182del, NC_000001.10:g.212009181_212009182del, NC_000001.10:g.212009182del, NC_000001.10:g.212009182dup, NC_000001.10:g.212009181_212009182dup, NC_000001.10:g.212009180_212009182dup, NC_000001.10:g.212009179_212009182dup, NC_000001.10:g.212009178_212009182dup, NC_000001.10:g.212009177_212009182dup
3.
rs1491290511 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:211829869
(GRCh38)
1:212003211
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211829868:CT:
- Gene:
- LPGAT1 (Varview), LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000018/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
4.
rs1491247461 has merged into rs1216173180 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:211849551
(GRCh38)
1:212022893
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:211849537:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.00233/4
(Korea1K)
- HGVS:
NC_000001.11:g.211849551_211849563del, NC_000001.11:g.211849553_211849563del, NC_000001.11:g.211849555_211849563del, NC_000001.11:g.211849556_211849563del, NC_000001.11:g.211849557_211849563del, NC_000001.11:g.211849558_211849563del, NC_000001.11:g.211849559_211849563del, NC_000001.11:g.211849560_211849563del, NC_000001.11:g.211849561_211849563del, NC_000001.11:g.211849562_211849563del, NC_000001.11:g.211849563del, NC_000001.11:g.211849563dup, NC_000001.11:g.211849562_211849563dup, NC_000001.11:g.211849559_211849563dup, NC_000001.11:g.211849558_211849563dup, NC_000001.11:g.211849555_211849563dup, NC_000001.11:g.211849551_211849563dup, NC_000001.10:g.212022893_212022905del, NC_000001.10:g.212022895_212022905del, NC_000001.10:g.212022897_212022905del, NC_000001.10:g.212022898_212022905del, NC_000001.10:g.212022899_212022905del, NC_000001.10:g.212022900_212022905del, NC_000001.10:g.212022901_212022905del, NC_000001.10:g.212022902_212022905del, NC_000001.10:g.212022903_212022905del, NC_000001.10:g.212022904_212022905del, NC_000001.10:g.212022905del, NC_000001.10:g.212022905dup, NC_000001.10:g.212022904_212022905dup, NC_000001.10:g.212022901_212022905dup, NC_000001.10:g.212022900_212022905dup, NC_000001.10:g.212022897_212022905dup, NC_000001.10:g.212022893_212022905dup
5.
rs1491167978 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATACATATATATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATG,ATATATATATATATC,ATATATATATATC,ATGTATATA
[Show Flanks]
- Chromosome:
- 1:211835808
(GRCh38)
1:212009151
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211835808::A,NC_000001.11:211835808::ATA,NC_000001.11:211835808::ATATA,NC_000001.11:211835808::ATATATA,NC_000001.11:211835808::ATATATACATATATATATATA,NC_000001.11:211835808::ATATATATA,NC_000001.11:211835808::ATATATATATA,NC_000001.11:211835808::ATATATATATATA,NC_000001.11:211835808::ATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATATATATATATATA,NC_000001.11:211835808::ATATATATATATATATG,NC_000001.11:211835808::ATATATATATATATC,NC_000001.11:211835808::ATATATATATATC,NC_000001.11:211835808::ATGTATATA
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
ATATATATATA=0.00787/2
(NorthernSweden)
- HGVS:
NC_000001.11:g.211835808_211835809insA, NC_000001.11:g.211835808_211835809insATA, NC_000001.11:g.211835808_211835809insATATA, NC_000001.11:g.211835808_211835809insATATATA, NC_000001.11:g.211835808_211835809insATATATACATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATA, NC_000001.11:g.211835808_211835809insATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATATATATATATATA, NC_000001.11:g.211835808_211835809insATATATATATATATATG, NC_000001.11:g.211835808_211835809insATATATATATATATC, NC_000001.11:g.211835808_211835809insATATATATATATC, NC_000001.11:g.211835808_211835809insATGTATATA, NC_000001.10:g.212009150_212009151insA, NC_000001.10:g.212009150_212009151insATA, NC_000001.10:g.212009150_212009151insATATA, NC_000001.10:g.212009150_212009151insATATATA, NC_000001.10:g.212009150_212009151insATATATACATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATA, NC_000001.10:g.212009150_212009151insATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATATATATATATATA, NC_000001.10:g.212009150_212009151insATATATATATATATATG, NC_000001.10:g.212009150_212009151insATATATATATATATC, NC_000001.10:g.212009150_212009151insATATATATATATC, NC_000001.10:g.212009150_212009151insATGTATATA
6.
rs1491087384 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ATT,ATTTT,ATTTTT,T,TTTTT
[Show Flanks]
- Chromosome:
- 1:211849044
(GRCh38)
1:212022387
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211849044::ATT,NC_000001.11:211849044::ATTTT,NC_000001.11:211849044::ATTTTT,NC_000001.11:211849044::T,NC_000001.11:211849044::TTTTT
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
7.
rs1490996341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:211854142
(GRCh38)
1:212027484
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211854141:G:A
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490758823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:211836520
(GRCh38)
1:212009862
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211836519:T:G
- Gene:
- LPGAT1-AS1 (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:
9.
rs1490746987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:211835820
(GRCh38)
1:212009162
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211835819:T:A,NC_000001.11:211835819:T:C
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00416/6
(Korea1K)
A=0.00707/105
(TOMMO)
- HGVS:
10.
rs1490662512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:211845292
(GRCh38)
1:212018634
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211845291:T:G
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000012/1
(GnomAD)
- HGVS:
11.
rs1490512155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:211853675
(GRCh38)
1:212027017
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211853674:A:G
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490277726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:211844859
(GRCh38)
1:212018201
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211844858:T:A
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.01506/44
(KOREAN)
- HGVS:
13.
rs1490272497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:211831592
(GRCh38)
1:212004934
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211831591:C:T
- Gene:
- LPGAT1 (Varview), LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490257940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:211836735
(GRCh38)
1:212010077
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211836734:A:G
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489814145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:211831070
(GRCh38)
1:212004412
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211831069:C:G
- Gene:
- LPGAT1 (Varview), LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489731609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:211837894
(GRCh38)
1:212011236
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211837893:G:A,NC_000001.11:211837893:G:T
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489728023 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:211846800
(GRCh38)
1:212020142
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211846799:AA:A
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000142/2
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
18.
rs1489565319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:211844641
(GRCh38)
1:212017983
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211844640:A:T
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
19.
rs1489542168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:211843874
(GRCh38)
1:212017216
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211843873:G:A
- Gene:
- LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1489527453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:211829556
(GRCh38)
1:212002898
(GRCh37)
- Canonical SPDI:
- NC_000001.11:211829555:A:G,NC_000001.11:211829555:A:T
- Gene:
- LPGAT1 (Varview), LPGAT1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
T=0.000071/2
(TOMMO)
- HGVS:
NC_000001.11:g.211829556A>G, NC_000001.11:g.211829556A>T, NC_000001.10:g.212002898A>G, NC_000001.10:g.212002898A>T, XM_011510229.4:c.-130T>C, XM_011510229.4:c.-130T>A, XM_011510229.3:c.-130T>C, XM_011510229.3:c.-130T>A, XM_011510229.2:c.-130T>C, XM_011510229.2:c.-130T>A, NM_001320808.2:c.-134T>C, NM_001320808.2:c.-134T>A, NM_001320808.1:c.-134T>C, NM_001320808.1:c.-134T>A