Links from Gene
Items: 1 to 20 of 1898
1.
rs1491453897 has merged into rs139452624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:43464934
(GRCh38)
19:43969086
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43464932:TCT:T
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.288569/3423
(
ALFA)
-=0.223022/124
(NorthernSweden)
TC=0.343051/1718
(1000Genomes)
-=0.356546/41698
(GnomAD)
TC=0.489697/7475
(TOMMO)
- HGVS:
2.
rs1489884641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:43464613
(GRCh38)
19:43968765
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43464612:G:A,NC_000019.10:43464612:G:T
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489490058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:43463425
(GRCh38)
19:43967577
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43463424:C:A
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
4.
rs1489247938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:43462645
(GRCh38)
19:43966797
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43462644:A:C
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
5.
rs1489164969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 19:43461857
(GRCh38)
19:43966010
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43461857:GAGA:GAGAGA
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGA=0./0
(
ALFA)
GA=0.000004/1
(GnomAD_exomes)
GA=0.000021/3
(GnomAD)
GA=0.00003/8
(TOPMED)
- HGVS:
6.
rs1489051459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:43462215
(GRCh38)
19:43966367
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43462214:A:C
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
7.
rs1487632021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:43463369
(GRCh38)
19:43967521
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43463368:C:G
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000006/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1487323821 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACATGATCGCTGGCGTTGTAG
[Show Flanks]
- Chromosome:
- 19:43463160
(GRCh38)
19:43967313
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43463160:TTGTAGACATGATCGCTGGCGTTGTAG:TTGTAGACATGATCGCTGGCGTTGTAGACATGATCGCTGGCGTTGTAG
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- inframe_insertion,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
TTGTAGACATGATCGCTGGCG=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487160468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:43466905
(GRCh38)
19:43971057
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43466904:A:G
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1486960941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:43460381
(GRCh38)
19:43964533
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43460380:G:A
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486668277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:43466986
(GRCh38)
19:43971138
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43466985:T:C
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1485690158 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:43465514
(GRCh38)
19:43969667
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43465514:C:CC
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1485489551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:43460929
(GRCh38)
19:43965081
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43460928:C:G,NC_000019.10:43460928:C:T
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1483762953 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:43463487
(GRCh38)
19:43967640
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43463487:CCCC:CCCCC
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000015/2
(GnomAD_exomes)
- HGVS:
17.
rs1483650731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:43460629
(GRCh38)
19:43964781
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43460628:A:G
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_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.
rs1483619506 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGACACTCAGGGCATCAGAGGCC>-
[Show Flanks]
- Chromosome:
- 19:43466360
(GRCh38)
19:43970512
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43466351:CAGAGGCCGAGACACTCAGGGCATCAGAGGCC:CAGAGGCC
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAGAGGCC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.001092/2
(Korea1K)
-=0.001699/28
(TOMMO)
- HGVS:
19.
rs1483506250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:43461968
(GRCh38)
19:43966120
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43461967:T:C
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1482517349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:43466105
(GRCh38)
19:43970257
(GRCh37)
- Canonical SPDI:
- NC_000019.10:43466104:G:T
- Gene:
- LYPD3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: