Links from Gene
Items: 1 to 20 of 6631
1.
rs1491579018 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:161002717
(GRCh38)
1:160972507
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161002714:CTCT:CT
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491561809 has merged into rs538237497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG,GGG
[Show Flanks]
- Chromosome:
- 1:161006148
(GRCh38)
1:160975938
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161006147:GGGGGGGGG:GGGGGGGG,NC_000001.11:161006147:GGGGGGGGG:GGGGGGGGGG,NC_000001.11:161006147:GGGGGGGGG:GGGGGGGGGGG
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGG=0./0
(
ALFA)
-=0.02812/30
(1000Genomes)
- HGVS:
4.
rs1491461430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:161010442
(GRCh38)
1:160980233
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161010442:AAAAAAAAAAAAAA:AAAAAAAAAAAAAACAAAAAAAAAAAAAA
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAACAAAAAAAAAAAAAA=0.00019/2
(
ALFA)
AAAAAAAAAAAAAAC=0.00293/58
(GnomAD)
- HGVS:
5.
rs1491458793 has merged into rs200362096 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:161011741
(GRCh38)
1:160981531
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161011729:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:161011729:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:161011729:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:161011729:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:161011729:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:161011729:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:161011729:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.20467/1025
(1000Genomes)
-=0.26388/1017
(ALSPAC)
-=0.28179/164
(NorthernSweden)
-=0.28209/1046
(TWINSUK)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000001.11:g.161011741_161011744del, NC_000001.11:g.161011742_161011744del, NC_000001.11:g.161011743_161011744del, NC_000001.11:g.161011744del, NC_000001.11:g.161011744dup, NC_000001.11:g.161011743_161011744dup, NC_000001.11:g.161011732_161011744dup, NC_000001.10:g.160981531_160981534del, NC_000001.10:g.160981532_160981534del, NC_000001.10:g.160981533_160981534del, NC_000001.10:g.160981534del, NC_000001.10:g.160981534dup, NC_000001.10:g.160981533_160981534dup, NC_000001.10:g.160981522_160981534dup
6.
rs1491361712 has merged into rs755371627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:161003137
(GRCh38)
1:160972927
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161003123:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.161003137_161003140del, NC_000001.11:g.161003138_161003140del, NC_000001.11:g.161003139_161003140del, NC_000001.11:g.161003140del, NC_000001.11:g.161003140dup, NC_000001.11:g.161003139_161003140dup, NC_000001.11:g.161003138_161003140dup, NC_000001.11:g.161003137_161003140dup, NC_000001.11:g.161003136_161003140dup, NC_000001.11:g.161003131_161003140dup, NC_000001.10:g.160972927_160972930del, NC_000001.10:g.160972928_160972930del, NC_000001.10:g.160972929_160972930del, NC_000001.10:g.160972930del, NC_000001.10:g.160972930dup, NC_000001.10:g.160972929_160972930dup, NC_000001.10:g.160972928_160972930dup, NC_000001.10:g.160972927_160972930dup, NC_000001.10:g.160972926_160972930dup, NC_000001.10:g.160972921_160972930dup
7.
rs1491324841 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTT
[Show Flanks]
- Chromosome:
- 1:161012598
(GRCh38)
1:160982389
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161012598::TTT
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TTT=0.00042/7
(TOMMO)
TTT=0.00047/43
(GnomAD)
- HGVS:
8.
rs1491240759 has merged into rs1248451719 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:161010452
(GRCh38)
1:160980242
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161010441:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.161010452_161010457del, NC_000001.11:g.161010453_161010457del, NC_000001.11:g.161010454_161010457del, NC_000001.11:g.161010455_161010457del, NC_000001.11:g.161010456_161010457del, NC_000001.11:g.161010457del, NC_000001.11:g.161010457dup, NC_000001.11:g.161010456_161010457dup, NC_000001.11:g.161010455_161010457dup, NC_000001.11:g.161010453_161010457dup, NC_000001.11:g.161010452_161010457dup, NC_000001.11:g.161010451_161010457dup, NC_000001.11:g.161010450_161010457dup, NC_000001.11:g.161010449_161010457dup, NC_000001.11:g.161010448_161010457dup, NC_000001.11:g.161010447_161010457dup, NC_000001.11:g.161010446_161010457dup, NC_000001.11:g.161010445_161010457dup, NC_000001.11:g.161010444_161010457dup, NC_000001.11:g.161010443_161010457dup, NC_000001.11:g.161010442_161010457dup, NC_000001.11:g.161010457_161010458insAAAAAAAAAAAAAAAAA, NC_000001.11:g.161010457_161010458insAAAAAAAAAAAAAAAAAA, NC_000001.11:g.161010457_161010458insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.160980242_160980247del, NC_000001.10:g.160980243_160980247del, NC_000001.10:g.160980244_160980247del, NC_000001.10:g.160980245_160980247del, NC_000001.10:g.160980246_160980247del, NC_000001.10:g.160980247del, NC_000001.10:g.160980247dup, NC_000001.10:g.160980246_160980247dup, NC_000001.10:g.160980245_160980247dup, NC_000001.10:g.160980243_160980247dup, NC_000001.10:g.160980242_160980247dup, NC_000001.10:g.160980241_160980247dup, NC_000001.10:g.160980240_160980247dup, NC_000001.10:g.160980239_160980247dup, NC_000001.10:g.160980238_160980247dup, NC_000001.10:g.160980237_160980247dup, NC_000001.10:g.160980236_160980247dup, NC_000001.10:g.160980235_160980247dup, NC_000001.10:g.160980234_160980247dup, NC_000001.10:g.160980233_160980247dup, NC_000001.10:g.160980232_160980247dup, NC_000001.10:g.160980247_160980248insAAAAAAAAAAAAAAAAA, NC_000001.10:g.160980247_160980248insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.160980247_160980248insAAAAAAAAAAAAAAAAAAA
9.
rs1491218975 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTGA
[Show Flanks]
- Chromosome:
- 1:161002715
(GRCh38)
1:160972506
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161002715:TCTGA:TCTGATCTGA
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTGATCTGA=0./0
(
ALFA)
TCTGA=0.000004/1
(TOPMED)
TCTGA=0.000014/2
(GnomAD)
- HGVS:
10.
rs1491165585 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:161012598
(GRCh38)
1:160982388
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161012597:AA:
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000272/35
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
11.
rs1491094746 has merged into rs34007325 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:161002273
(GRCh38)
1:160972063
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161002261:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000001.11:g.161002273_161002283del, NC_000001.11:g.161002275_161002283del, NC_000001.11:g.161002277_161002283del, NC_000001.11:g.161002278_161002283del, NC_000001.11:g.161002281_161002283del, NC_000001.11:g.161002282_161002283del, NC_000001.11:g.161002283del, NC_000001.11:g.161002283dup, NC_000001.11:g.161002282_161002283dup, NC_000001.11:g.161002281_161002283dup, NC_000001.11:g.161002280_161002283dup, NC_000001.11:g.161002279_161002283dup, NC_000001.11:g.161002278_161002283dup, NC_000001.11:g.161002277_161002283dup, NC_000001.11:g.161002276_161002283dup, NC_000001.11:g.161002275_161002283dup, NC_000001.11:g.161002274_161002283dup, NC_000001.11:g.161002273_161002283dup, NC_000001.11:g.161002271_161002283dup, NC_000001.11:g.161002264_161002283dup, NC_000001.10:g.160972063_160972073del, NC_000001.10:g.160972065_160972073del, NC_000001.10:g.160972067_160972073del, NC_000001.10:g.160972068_160972073del, NC_000001.10:g.160972071_160972073del, NC_000001.10:g.160972072_160972073del, NC_000001.10:g.160972073del, NC_000001.10:g.160972073dup, NC_000001.10:g.160972072_160972073dup, NC_000001.10:g.160972071_160972073dup, NC_000001.10:g.160972070_160972073dup, NC_000001.10:g.160972069_160972073dup, NC_000001.10:g.160972068_160972073dup, NC_000001.10:g.160972067_160972073dup, NC_000001.10:g.160972066_160972073dup, NC_000001.10:g.160972065_160972073dup, NC_000001.10:g.160972064_160972073dup, NC_000001.10:g.160972063_160972073dup, NC_000001.10:g.160972061_160972073dup, NC_000001.10:g.160972054_160972073dup
12.
rs1491063754 has merged into rs1553211261 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TATA,TATATATA,TATATATATA,TATATATATATA
[Show Flanks]
- Chromosome:
- 1:161015423
(GRCh38)
1:160985213
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161015407:ATATATATATATATATATATA:ATATATATATATATA,NC_000001.11:161015407:ATATATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:161015407:ATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000001.11:161015407:ATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000001.11:161015407:ATATATATATATATATATATA:ATATATATATATATATATATATATATA
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATA=0./0
(
ALFA)
AT=0.00222/4
(Korea1K)
AT=0.01003/6
(NorthernSweden)
- HGVS:
13.
rs1490986751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:160995159
(GRCh38)
1:160964949
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160995158:A:G
- Gene:
- F11R (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490315115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:161016216
(GRCh38)
1:160986006
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161016215:C:T
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490291443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTT>-
[Show Flanks]
- Chromosome:
- 1:161002956
(GRCh38)
1:160972746
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161002952:TTTGTTTT:TTT
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0./0
(Korea1K)
-=0.000008/1
(GnomAD)
-=0.000602/10
(TOMMO)
- HGVS:
17.
rs1490267056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:161001877
(GRCh38)
1:160971667
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161001876:A:G
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490021591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:161000338
(GRCh38)
1:160970128
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161000337:G:A
- Gene:
- F11R (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.161000338G>A, NC_000001.10:g.160970128G>A, NM_016946.6:c.399C>T, NM_016946.5:c.399C>T, NM_016946.4:c.399C>T, NM_001348091.2:c.252C>T, NM_001348091.1:c.252C>T, NM_001382727.1:c.399C>T, NM_001382730.1:c.399C>T, NM_001382733.1:c.399C>T, NM_001382734.1:c.330C>T, NM_144503.1:c.399C>T, NM_144504.1:c.399C>T, NM_144502.1:c.279C>T, NM_144501.1:c.399C>T
19.
rs1489996365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:161000583
(GRCh38)
1:160970373
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161000582:T:C
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1489855431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:161017482
(GRCh38)
1:160987272
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161017481:G:A
- Gene:
- F11R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: