Links from Gene
Items: 1 to 20 of 1000
1.
rs1491587417 has merged into rs71641425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 4:67828053
(GRCh38)
4:68693771
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67828035:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000004.12:67828035:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000004.12:67828035:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000004.12:67828035:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:67828035:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:67828035:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.000057/15
(TOPMED)
GT=0.223031/827
(TWINSUK)
GT=0.229113/883
(ALSPAC)
- HGVS:
NC_000004.12:g.67828037TG[8], NC_000004.12:g.67828037TG[9], NC_000004.12:g.67828037TG[10], NC_000004.12:g.67828037TG[12], NC_000004.12:g.67828037TG[13], NC_000004.12:g.67828037TG[14], NC_000004.11:g.68693755TG[8], NC_000004.11:g.68693755TG[9], NC_000004.11:g.68693755TG[10], NC_000004.11:g.68693755TG[12], NC_000004.11:g.68693755TG[13], NC_000004.11:g.68693755TG[14]
2.
rs1491549584 has merged into rs1214467886 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:67857286
(GRCh38)
4:68723004
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67857271:TATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.67857272TA[7], NC_000004.12:g.67857272TA[8], NC_000004.12:g.67857272TA[9], NC_000004.12:g.67857272TA[10], NC_000004.12:g.67857272TA[11], NC_000004.12:g.67857272TA[12], NC_000004.12:g.67857272TA[13], NC_000004.12:g.67857272TA[14], NC_000004.12:g.67857272TA[15], NC_000004.12:g.67857272TA[16], NC_000004.12:g.67857272TA[17], NC_000004.12:g.67857272TA[18], NC_000004.12:g.67857272TA[19], NC_000004.12:g.67857272TA[20], NC_000004.12:g.67857272TA[21], NC_000004.12:g.67857272TA[22], NC_000004.12:g.67857272TA[23], NC_000004.12:g.67857272TA[24], NC_000004.12:g.67857272TA[25], NC_000004.12:g.67857272TA[27], NC_000004.12:g.67857272TA[28], NC_000004.12:g.67857272TA[29], NC_000004.12:g.67857272TA[30], NC_000004.12:g.67857272TA[31], NC_000004.11:g.68722990TA[7], NC_000004.11:g.68722990TA[8], NC_000004.11:g.68722990TA[9], NC_000004.11:g.68722990TA[10], NC_000004.11:g.68722990TA[11], NC_000004.11:g.68722990TA[12], NC_000004.11:g.68722990TA[13], NC_000004.11:g.68722990TA[14], NC_000004.11:g.68722990TA[15], NC_000004.11:g.68722990TA[16], NC_000004.11:g.68722990TA[17], NC_000004.11:g.68722990TA[18], NC_000004.11:g.68722990TA[19], NC_000004.11:g.68722990TA[20], NC_000004.11:g.68722990TA[21], NC_000004.11:g.68722990TA[22], NC_000004.11:g.68722990TA[23], NC_000004.11:g.68722990TA[24], NC_000004.11:g.68722990TA[25], NC_000004.11:g.68722990TA[27], NC_000004.11:g.68722990TA[28], NC_000004.11:g.68722990TA[29], NC_000004.11:g.68722990TA[30], NC_000004.11:g.68722990TA[31]
3.
rs1491548809 has merged into rs34448142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:67855264
(GRCh38)
4:68720982
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67855252:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AAAAA=0.1655/829
(1000Genomes)
- HGVS:
NC_000004.12:g.67855264_67855272del, NC_000004.12:g.67855265_67855272del, NC_000004.12:g.67855266_67855272del, NC_000004.12:g.67855267_67855272del, NC_000004.12:g.67855268_67855272del, NC_000004.12:g.67855269_67855272del, NC_000004.12:g.67855270_67855272del, NC_000004.12:g.67855271_67855272del, NC_000004.12:g.67855272del, NC_000004.12:g.67855272dup, NC_000004.12:g.67855271_67855272dup, NC_000004.12:g.67855270_67855272dup, NC_000004.12:g.67855253_67855272A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.68720982_68720990del, NC_000004.11:g.68720983_68720990del, NC_000004.11:g.68720984_68720990del, NC_000004.11:g.68720985_68720990del, NC_000004.11:g.68720986_68720990del, NC_000004.11:g.68720987_68720990del, NC_000004.11:g.68720988_68720990del, NC_000004.11:g.68720989_68720990del, NC_000004.11:g.68720990del, NC_000004.11:g.68720990dup, NC_000004.11:g.68720989_68720990dup, NC_000004.11:g.68720988_68720990dup, NC_000004.11:g.68720971_68720990A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1491542074 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:67870813
(GRCh38)
4:68736531
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67870812:CA:
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00485/18
(TWINSUK)
-=0.01168/45
(ALSPAC)
- HGVS:
5.
rs1491526767 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:67859684
(GRCh38)
4:68725402
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67859683:AA:
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000024/6
(GnomAD_exomes)
-=0.000025/3
(ExAC)
-=0.000036/5
(GnomAD)
-=0.000072/19
(TOPMED)
- HGVS:
6.
rs1491457060 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:67850733
(GRCh38)
4:68716452
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67850733::T
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
7.
rs1491451759 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:67857271
(GRCh38)
4:68722989
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67857270:GT:
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00011/8
(GnomAD)
- HGVS:
8.
rs1491451758 has merged into rs33919891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 4:67828067
(GRCh38)
4:68693785
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67828059:ATATATATA:ATATATA,NC_000004.12:67828059:ATATATATA:ATATATATATA
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATA=0.235187/1167
(
ALFA)
AT=0.139279/139
(GoNL)
AT=0.146667/88
(NorthernSweden)
AT=0.151339/678
(Estonian)
AT=0.2/8
(GENOME_DK)
AT=0.20011/52967
(TOPMED)
AT=0.239154/4008
(TOMMO)
AT=0.24594/1575
(1000Genomes)
AT=0.280568/514
(Korea1K)
- HGVS:
10.
rs1491392945 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:67828059
(GRCh38)
4:68693777
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67828058:CA:
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00006/3
(GnomAD)
- HGVS:
11.
rs1491391305 has merged into rs11322109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 4:67829458
(GRCh38)
4:68695176
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67829447:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:67829447:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:67829447:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:67829447:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.001734/8
(TOMMO)
- HGVS:
12.
rs1491389942 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:67885083
(GRCh38)
4:68750802
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67885083:TTTTTT:TTTTTTT
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1491297845 has merged into rs11318143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:67870824
(GRCh38)
4:68736542
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67870813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.1248/481
(ALSPAC)
-=0.4832/2420
(1000Genomes)
- HGVS:
NC_000004.12:g.67870824_67870831del, NC_000004.12:g.67870825_67870831del, NC_000004.12:g.67870827_67870831del, NC_000004.12:g.67870828_67870831del, NC_000004.12:g.67870829_67870831del, NC_000004.12:g.67870830_67870831del, NC_000004.12:g.67870831del, NC_000004.12:g.67870831dup, NC_000004.12:g.67870830_67870831dup, NC_000004.12:g.67870829_67870831dup, NC_000004.12:g.67870828_67870831dup, NC_000004.12:g.67870823_67870831dup, NC_000004.11:g.68736542_68736549del, NC_000004.11:g.68736543_68736549del, NC_000004.11:g.68736545_68736549del, NC_000004.11:g.68736546_68736549del, NC_000004.11:g.68736547_68736549del, NC_000004.11:g.68736548_68736549del, NC_000004.11:g.68736549del, NC_000004.11:g.68736549dup, NC_000004.11:g.68736548_68736549dup, NC_000004.11:g.68736547_68736549dup, NC_000004.11:g.68736546_68736549dup, NC_000004.11:g.68736541_68736549dup
14.
rs1491258706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 4:67826760
(GRCh38)
4:68692478
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67826758:AGA:A
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00017/2
(
ALFA)
-=0.00041/38
(GnomAD)
- HGVS:
15.
rs1491212905 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:67826759
(GRCh38)
4:68692478
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67826759:G:GG
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1491026916 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:67829111
(GRCh38)
4:68694829
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67829109:TGT:T
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000022/3
(GnomAD)
- HGVS:
17.
rs1490953128 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAG>-
[Show Flanks]
- Chromosome:
- 4:67844800
(GRCh38)
4:68710518
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67844793:AAGAAGAAG:AAGAAG
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000034/9
(TOPMED)
-=0.000212/4
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
18.
rs1490928668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTTTTCCCAAATATATTTGGGAAATAT>-
[Show Flanks]
- Chromosome:
- 4:67885083
(GRCh38)
4:68750801
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67885078:ATATGTTTTTTCCCAAATATATTTGGGAAATAT:ATAT
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490917006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:67851377
(GRCh38)
4:68717095
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67851376:C:T
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000064/9
(GnomAD)
- HGVS:
20.
rs1490808802 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 4:67876900
(GRCh38)
4:68742618
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67876899:G:
- Gene:
- TMPRSS11D (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: