Links from Gene
Items: 1 to 20 of 6933
1.
rs1491540874 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:62824610
(GRCh38)
17:60901972
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62824610::G
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000029/4
(GnomAD)
- HGVS:
3.
rs1491533275 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 17:62820814
(GRCh38)
17:60898176
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62820814:TG:TGTG
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTG=0.00008/1
(
ALFA)
TG=0.00002/2
(GnomAD)
TG=0.00007/2
(TOMMO)
TG=0.00055/1
(Korea1K)
- HGVS:
4.
rs1491516368 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 17:62812264
(GRCh38)
17:60889625
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62812263:AA:
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000035/1
(TOMMO)
-=0.000156/1
(1000Genomes)
-=0.000546/1
(Korea1K)
- HGVS:
5.
rs1491497915 has merged into rs35306204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:62823443
(GRCh38)
17:60900804
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.4961/2041
(1000Genomes)
- HGVS:
NC_000017.11:g.62823443_62823446del, NC_000017.11:g.62823444_62823446del, NC_000017.11:g.62823445_62823446del, NC_000017.11:g.62823446del, NC_000017.11:g.62823446dup, NC_000017.11:g.62823445_62823446dup, NC_000017.11:g.62823443_62823446dup, NC_000017.11:g.62823439_62823446dup, NC_000017.10:g.60900804_60900807del, NC_000017.10:g.60900805_60900807del, NC_000017.10:g.60900806_60900807del, NC_000017.10:g.60900807del, NC_000017.10:g.60900807dup, NC_000017.10:g.60900806_60900807dup, NC_000017.10:g.60900804_60900807dup, NC_000017.10:g.60900800_60900807dup
6.
rs1491496242 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 17:62820814
(GRCh38)
17:60898175
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62820813:AT:
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000253/3
(
ALFA)
-=0.000156/18
(GnomAD)
- HGVS:
7.
rs1491418764 has merged into rs148316014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 17:62831968
(GRCh38)
17:60909329
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62831954:TATATATATATATATAT:TATATATATATAT,NC_000017.11:62831954:TATATATATATATATAT:TATATATATATATAT,NC_000017.11:62831954:TATATATATATATATAT:TATATATATATATATATAT,NC_000017.11:62831954:TATATATATATATATAT:TATATATATATATATATATAT
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATAT=0./0
(
ALFA)
TA=0.002463/1
(NorthernSweden)
-=0.46058/121911
(TOPMED)
- HGVS:
10.
rs1491124483 has merged into rs771901966 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:62830068
(GRCh38)
17:60907429
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.34211/13
(GENOME_DK)
- HGVS:
NC_000017.11:g.62830068_62830079del, NC_000017.11:g.62830069_62830079del, NC_000017.11:g.62830070_62830079del, NC_000017.11:g.62830071_62830079del, NC_000017.11:g.62830072_62830079del, NC_000017.11:g.62830073_62830079del, NC_000017.11:g.62830074_62830079del, NC_000017.11:g.62830075_62830079del, NC_000017.11:g.62830076_62830079del, NC_000017.11:g.62830077_62830079del, NC_000017.11:g.62830078_62830079del, NC_000017.11:g.62830079del, NC_000017.11:g.62830079dup, NC_000017.11:g.62830078_62830079dup, NC_000017.11:g.62830077_62830079dup, NC_000017.11:g.62830076_62830079dup, NC_000017.11:g.62830075_62830079dup, NC_000017.11:g.62830074_62830079dup, NC_000017.11:g.62830073_62830079dup, NC_000017.11:g.62830072_62830079dup, NC_000017.11:g.62830079_62830080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.60907429_60907440del, NC_000017.10:g.60907430_60907440del, NC_000017.10:g.60907431_60907440del, NC_000017.10:g.60907432_60907440del, NC_000017.10:g.60907433_60907440del, NC_000017.10:g.60907434_60907440del, NC_000017.10:g.60907435_60907440del, NC_000017.10:g.60907436_60907440del, NC_000017.10:g.60907437_60907440del, NC_000017.10:g.60907438_60907440del, NC_000017.10:g.60907439_60907440del, NC_000017.10:g.60907440del, NC_000017.10:g.60907440dup, NC_000017.10:g.60907439_60907440dup, NC_000017.10:g.60907438_60907440dup, NC_000017.10:g.60907437_60907440dup, NC_000017.10:g.60907436_60907440dup, NC_000017.10:g.60907435_60907440dup, NC_000017.10:g.60907434_60907440dup, NC_000017.10:g.60907433_60907440dup, NC_000017.10:g.60907440_60907441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
11.
rs1491068460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 17:62820799
(GRCh38)
17:60898160
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62820796:TGTG:TG
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
12.
rs1491067290 has merged into rs376171163 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 17:62824597
(GRCh38)
17:60901958
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.03614/181
(1000Genomes)
- HGVS:
NC_000017.11:g.62824591GT[3], NC_000017.11:g.62824591GT[6], NC_000017.11:g.62824591GT[7], NC_000017.11:g.62824591GT[8], NC_000017.11:g.62824591GT[9], NC_000017.11:g.62824591GT[11], NC_000017.11:g.62824591GT[12], NC_000017.11:g.62824591GT[13], NC_000017.10:g.60901952GT[3], NC_000017.10:g.60901952GT[6], NC_000017.10:g.60901952GT[7], NC_000017.10:g.60901952GT[8], NC_000017.10:g.60901952GT[9], NC_000017.10:g.60901952GT[11], NC_000017.10:g.60901952GT[12], NC_000017.10:g.60901952GT[13]
13.
rs1491038428 has merged into rs71155957 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:62825951
(GRCh38)
17:60903312
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0.0012/8
(
ALFA)
-=0.4281/2144
(1000Genomes)
T=0.4684/1737
(TWINSUK)
T=0.4746/1829
(ALSPAC)
- HGVS:
NC_000017.11:g.62825951_62825952del, NC_000017.11:g.62825952del, NC_000017.11:g.62825952dup, NC_000017.11:g.62825951_62825952dup, NC_000017.11:g.62825950_62825952dup, NC_000017.11:g.62825949_62825952dup, NC_000017.11:g.62825948_62825952dup, NC_000017.11:g.62825947_62825952dup, NC_000017.11:g.62825946_62825952dup, NC_000017.11:g.62825945_62825952dup, NC_000017.11:g.62825943_62825952dup, NC_000017.11:g.62825942_62825952dup, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTT, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTTTT, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.60903312_60903313del, NC_000017.10:g.60903313del, NC_000017.10:g.60903313dup, NC_000017.10:g.60903312_60903313dup, NC_000017.10:g.60903311_60903313dup, NC_000017.10:g.60903310_60903313dup, NC_000017.10:g.60903309_60903313dup, NC_000017.10:g.60903308_60903313dup, NC_000017.10:g.60903307_60903313dup, NC_000017.10:g.60903306_60903313dup, NC_000017.10:g.60903304_60903313dup, NC_000017.10:g.60903303_60903313dup, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTT, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTTTT, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTTTTTTTTT
14.
rs1491023455 has merged into rs34025572 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:62813218
(GRCh38)
17:60890579
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.62813218_62813227del, NC_000017.11:g.62813220_62813227del, NC_000017.11:g.62813222_62813227del, NC_000017.11:g.62813223_62813227del, NC_000017.11:g.62813225_62813227del, NC_000017.11:g.62813226_62813227del, NC_000017.11:g.62813227del, NC_000017.11:g.62813227dup, NC_000017.11:g.62813226_62813227dup, NC_000017.11:g.62813225_62813227dup, NC_000017.11:g.62813224_62813227dup, NC_000017.11:g.62813223_62813227dup, NC_000017.11:g.62813222_62813227dup, NC_000017.10:g.60890579_60890588del, NC_000017.10:g.60890581_60890588del, NC_000017.10:g.60890583_60890588del, NC_000017.10:g.60890584_60890588del, NC_000017.10:g.60890586_60890588del, NC_000017.10:g.60890587_60890588del, NC_000017.10:g.60890588del, NC_000017.10:g.60890588dup, NC_000017.10:g.60890587_60890588dup, NC_000017.10:g.60890586_60890588dup, NC_000017.10:g.60890585_60890588dup, NC_000017.10:g.60890584_60890588dup, NC_000017.10:g.60890583_60890588dup
15.
rs1491022343 has merged into rs111885009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA
[Show Flanks]
- Chromosome:
- 17:62814504
(GRCh38)
17:60891865
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
AC=0.00167/1
(NorthernSweden)
AC=0.01492/250
(TOMMO)
AC=0.04673/10
(Vietnamese)
- HGVS:
NC_000017.11:g.62814492CA[6], NC_000017.11:g.62814492CA[7], NC_000017.11:g.62814492CA[8], NC_000017.11:g.62814492CA[9], NC_000017.11:g.62814492CA[11], NC_000017.11:g.62814492CA[12], NC_000017.11:g.62814492CA[13], NC_000017.11:g.62814492CA[14], NC_000017.10:g.60891853CA[6], NC_000017.10:g.60891853CA[7], NC_000017.10:g.60891853CA[8], NC_000017.10:g.60891853CA[9], NC_000017.10:g.60891853CA[11], NC_000017.10:g.60891853CA[12], NC_000017.10:g.60891853CA[13], NC_000017.10:g.60891853CA[14]
16.
rs1490817825 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:62807745
(GRCh38)
17:60885107
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62807745:G:GG
- Gene:
- MARCHF10 (Varview), MARCHF10-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490386793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:62834523
(GRCh38)
17:60911884
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62834522:A:G
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
19.
rs1490255002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:62829917
(GRCh38)
17:60907278
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62829916:A:G
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490224740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 17:62834128
(GRCh38)
17:60911489
(GRCh37)
- Canonical SPDI:
- NC_000017.11:62834127:G:C,NC_000017.11:62834127:G:T
- Gene:
- MARCHF10-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: