SNP Links for Gene (Select 94031) - SNP

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Select item 14914729761.

rs1491472976 has merged into rs137976560 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 4:8278403 (GRCh38)
4:8280130 (GRCh37)
Canonical SPDI:: NC_000004.12:8278390:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:8278390:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:8278390:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:8278390:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:8278390:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:8278390:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:8278390:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000004.12:g.8278403_8278406del, NC_000004.12:g.8278404_8278406del, NC_000004.12:g.8278405_8278406del, NC_000004.12:g.8278406del, NC_000004.12:g.8278406dup, NC_000004.12:g.8278405_8278406dup, NC_000004.12:g.8278402_8278406dup, NC_000004.11:g.8280130_8280133del, NC_000004.11:g.8280131_8280133del, NC_000004.11:g.8280132_8280133del, NC_000004.11:g.8280133del, NC_000004.11:g.8280133dup, NC_000004.11:g.8280132_8280133dup, NC_000004.11:g.8280129_8280133dup

Select item 14913852492.

rs1491385249 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:8278390 (GRCh38)
4:8280117 (GRCh37)
Canonical SPDI:: NC_000004.12:8278389:GA:
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.8278390_8278391del, NC_000004.11:g.8280117_8280118del

Select item 14912609253.

rs1491260925 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 14912048034.

rs1491204803 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:8294623 (GRCh38)
4:8296350 (GRCh37)
Canonical SPDI:: NC_000004.12:8294622:TC:
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0009/4 (TOMMO)
HGVS:: NC_000004.12:g.8294623_8294624del, NC_000004.11:g.8296350_8296351del

Select item 14910568185.

rs1491056818 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:8301134 (GRCh38)
4:8302862 (GRCh37)
Canonical SPDI:: NC_000004.12:8301134:TT:TTT
Gene:: HTRA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.8301136dup, NC_000004.11:g.8302863dup

Select item 14909695166.

rs1490969516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8303643 (GRCh38)
4:8305370 (GRCh37)
Canonical SPDI:: NC_000004.12:8303642:G:A
Gene:: HTRA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.8303643G>A, NC_000004.11:g.8305370G>A

Select item 14907652207.

rs1490765220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:8306666 (GRCh38)
4:8308394 (GRCh37)
Canonical SPDI:: NC_000004.12:8306666:G:GG
Gene:: HTRA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000018/2 (GnomAD)
HGVS:: NC_000004.12:g.8306667dup, NC_000004.11:g.8308394dup, NM_053044.5:c.*531dup, NM_053044.4:c.*531dup, NM_053044.3:c.*531dup

Select item 14906719288.

rs1490671928 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCATCCACCTATCCATCCATCCA>- [Show Flanks]
Chromosome:: 4:8294761 (GRCh38)
4:8296488 (GRCh37)
Canonical SPDI:: NC_000004.12:8294752:TCCATCCACCCATCCACCTATCCATCCATCCA:TCCATCCA
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCATCCA=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.8294761_8294784del, NC_000004.11:g.8296488_8296511del

Select item 14906365269.

rs1490636526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8294168 (GRCh38)
4:8295895 (GRCh37)
Canonical SPDI:: NC_000004.12:8294167:T:C
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8294168T>C, NC_000004.11:g.8295895T>C, NM_053044.5:c.1018T>C, NM_053044.4:c.1018T>C, NM_053044.3:c.1018T>C, XM_011513596.4:c.1018T>C, XM_011513596.3:c.1018T>C, XM_011513596.2:c.1018T>C, XM_011513596.1:c.1018T>C, NM_001297559.3:c.1018T>C, NM_001297559.2:c.1018T>C, NM_001297559.1:c.1018T>C, NP_444272.1:p.Phe340Leu, XP_011511898.1:p.Phe340Leu, NP_001284488.1:p.Phe340Leu

Select item 149031181610.

rs1490311816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:8293417 (GRCh38)
4:8295144 (GRCh37)
Canonical SPDI:: NC_000004.12:8293416:G:C
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.8293417G>C, NC_000004.11:g.8295144G>C

Select item 149030824611.

rs1490308246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:8304290 (GRCh38)
4:8306017 (GRCh37)
Canonical SPDI:: NC_000004.12:8304289:C:A,NC_000004.12:8304289:C:T
Gene:: HTRA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8304290C>A, NC_000004.12:g.8304290C>T, NC_000004.11:g.8306017C>A, NC_000004.11:g.8306017C>T

Select item 149027411012.

rs1490274110 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCAGAGCGG>- [Show Flanks]
Chromosome:: 4:8306263 (GRCh38)
4:8307990 (GRCh37)
Canonical SPDI:: NC_000004.12:8306259:CGGGGCAGAGCGG:CGG
Gene:: HTRA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8306263_8306272del, NC_000004.11:g.8307990_8307999del, NM_053044.5:c.*127_*136del, NM_053044.4:c.*127_*136del, NM_053044.3:c.*127_*136del

Select item 149026932013.

rs1490269320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8288960 (GRCh38)
4:8290687 (GRCh37)
Canonical SPDI:: NC_000004.12:8288959:T:C
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.000079/10 (GnomAD)
HGVS:: NC_000004.12:g.8288960T>C, NC_000004.11:g.8290687T>C

Select item 149015408714.

rs1490154087 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTTT [Show Flanks]
Chromosome:: 4:8304646 (GRCh38)
4:8306374 (GRCh37)
Canonical SPDI:: NC_000004.12:8304646:TTT:TTTGTGTTT
Gene:: HTRA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TTTGTG=0.00031/4 (TOMMO)
TTTGTG=0.00061/16 (GnomAD)
TTTGTG=0.01178/7 (NorthernSweden)
HGVS:: NC_000004.12:g.8304649_8304650insGTGTTT, NC_000004.11:g.8306376_8306377insGTGTTT

Select item 149013551815.

rs1490135518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8279770 (GRCh38)
4:8281497 (GRCh37)
Canonical SPDI:: NC_000004.12:8279769:C:T
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.8279770C>T, NC_000004.11:g.8281497C>T

Select item 149002357516.

rs1490023575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8280547 (GRCh38)
4:8282274 (GRCh37)
Canonical SPDI:: NC_000004.12:8280546:C:T
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8280547C>T, NC_000004.11:g.8282274C>T

Select item 148989162217.

rs1489891622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:8276776 (GRCh38)
4:8278503 (GRCh37)
Canonical SPDI:: NC_000004.12:8276775:G:C
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.8276776G>C, NC_000004.11:g.8278503G>C

Select item 148980390118.

rs1489803901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:8288473 (GRCh38)
4:8290200 (GRCh37)
Canonical SPDI:: NC_000004.12:8288472:C:G,NC_000004.12:8288472:C:T
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.8288473C>G, NC_000004.12:g.8288473C>T, NC_000004.11:g.8290200C>G, NC_000004.11:g.8290200C>T

Select item 148979099719.

rs1489790997 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 4:8287271 (GRCh38)
4:8288998 (GRCh37)
Canonical SPDI:: NC_000004.12:8287265:TCTTCTTC:TCTTC
Gene:: HTRA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8287268TTC[1], NC_000004.11:g.8288995TTC[1]

Select item 148961124920.

rs1489611249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8300371 (GRCh38)
4:8302098 (GRCh37)
Canonical SPDI:: NC_000004.12:8300370:T:C
Gene:: HTRA3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8300371T>C, NC_000004.11:g.8302098T>C

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