SNP Links for Gene (Select 55556) - SNP

Links from Gene

Items: 1 to 20 of 11930

<< First< Prev

Page of 597

Next >Last >>

Select item 14915694511.

rs1491569451 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 18:702286 (GRCh38)
18:702286 (GRCh37)
Canonical SPDI:: NC_000018.10:702285:AC:
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000031/4 (GnomAD)
HGVS:: NC_000018.10:g.702286_702287del, NC_000018.9:g.702286_702287del

Select item 14914049992.

rs1491404999 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 18:699814 (GRCh38)
18:699814 (GRCh37)
Canonical SPDI:: NC_000018.10:699812:CTC:C
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.699814_699815del, NC_000018.9:g.699814_699815del

Select item 14913977303.

rs1491397730 has merged into rs71174268 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:679220 (GRCh38)
18:679220 (GRCh37)
Canonical SPDI:: NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:679208:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.3924/1965 (1000Genomes)
HGVS:: NC_000018.10:g.679220_679227del, NC_000018.10:g.679221_679227del, NC_000018.10:g.679222_679227del, NC_000018.10:g.679223_679227del, NC_000018.10:g.679224_679227del, NC_000018.10:g.679225_679227del, NC_000018.10:g.679226_679227del, NC_000018.10:g.679227del, NC_000018.10:g.679227dup, NC_000018.10:g.679226_679227dup, NC_000018.10:g.679225_679227dup, NC_000018.10:g.679224_679227dup, NC_000018.10:g.679223_679227dup, NC_000018.9:g.679220_679227del, NC_000018.9:g.679221_679227del, NC_000018.9:g.679222_679227del, NC_000018.9:g.679223_679227del, NC_000018.9:g.679224_679227del, NC_000018.9:g.679225_679227del, NC_000018.9:g.679226_679227del, NC_000018.9:g.679227del, NC_000018.9:g.679227dup, NC_000018.9:g.679226_679227dup, NC_000018.9:g.679225_679227dup, NC_000018.9:g.679224_679227dup, NC_000018.9:g.679223_679227dup

Select item 14913930844.

rs1491393084 has merged into rs71297337 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:706823 (GRCh38)
18:706823 (GRCh37)
Canonical SPDI:: NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.03444/577 (TOMMO)
-=0.05975/106 (Korea1K)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000018.10:g.706823_706829del, NC_000018.10:g.706825_706829del, NC_000018.10:g.706826_706829del, NC_000018.10:g.706827_706829del, NC_000018.10:g.706828_706829del, NC_000018.10:g.706829del, NC_000018.10:g.706829dup, NC_000018.10:g.706828_706829dup, NC_000018.10:g.706827_706829dup, NC_000018.10:g.706826_706829dup, NC_000018.10:g.706825_706829dup, NC_000018.10:g.706824_706829dup, NC_000018.10:g.706823_706829dup, NC_000018.10:g.706829_706830insTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.706823_706829del, NC_000018.9:g.706825_706829del, NC_000018.9:g.706826_706829del, NC_000018.9:g.706827_706829del, NC_000018.9:g.706828_706829del, NC_000018.9:g.706829del, NC_000018.9:g.706829dup, NC_000018.9:g.706828_706829dup, NC_000018.9:g.706827_706829dup, NC_000018.9:g.706826_706829dup, NC_000018.9:g.706825_706829dup, NC_000018.9:g.706824_706829dup, NC_000018.9:g.706823_706829dup, NC_000018.9:g.706829_706830insTTTTTTTTTTTTTTTTTTTT

Select item 14913295785.

rs1491329578 has merged into rs71174273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:700900 (GRCh38)
18:700900 (GRCh37)
Canonical SPDI:: NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:700890:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.700900_700914del, NC_000018.10:g.700901_700914del, NC_000018.10:g.700902_700914del, NC_000018.10:g.700903_700914del, NC_000018.10:g.700904_700914del, NC_000018.10:g.700905_700914del, NC_000018.10:g.700908_700914del, NC_000018.10:g.700911_700914del, NC_000018.10:g.700912_700914del, NC_000018.10:g.700913_700914del, NC_000018.10:g.700914del, NC_000018.10:g.700914dup, NC_000018.10:g.700913_700914dup, NC_000018.10:g.700912_700914dup, NC_000018.10:g.700911_700914dup, NC_000018.10:g.700910_700914dup, NC_000018.10:g.700909_700914dup, NC_000018.10:g.700908_700914dup, NC_000018.10:g.700906_700914dup, NC_000018.10:g.700905_700914dup, NC_000018.10:g.700901_700914dup, NC_000018.10:g.700894_700914dup, NC_000018.10:g.700914_700915insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.700914_700915insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.700900_700914del, NC_000018.9:g.700901_700914del, NC_000018.9:g.700902_700914del, NC_000018.9:g.700903_700914del, NC_000018.9:g.700904_700914del, NC_000018.9:g.700905_700914del, NC_000018.9:g.700908_700914del, NC_000018.9:g.700911_700914del, NC_000018.9:g.700912_700914del, NC_000018.9:g.700913_700914del, NC_000018.9:g.700914del, NC_000018.9:g.700914dup, NC_000018.9:g.700913_700914dup, NC_000018.9:g.700912_700914dup, NC_000018.9:g.700911_700914dup, NC_000018.9:g.700910_700914dup, NC_000018.9:g.700909_700914dup, NC_000018.9:g.700908_700914dup, NC_000018.9:g.700906_700914dup, NC_000018.9:g.700905_700914dup, NC_000018.9:g.700901_700914dup, NC_000018.9:g.700894_700914dup, NC_000018.9:g.700914_700915insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.700914_700915insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913162056.

rs1491316205 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:700890 (GRCh38)
18:700890 (GRCh37)
Canonical SPDI:: NC_000018.10:700889:CA:
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000018.10:g.700890_700891del, NC_000018.9:g.700890_700891del

Select item 14912871617.

rs1491287161 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:680677 (GRCh38)
18:680678 (GRCh37)
Canonical SPDI:: NC_000018.10:680677::G
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00042/5 (ALFA)
HGVS:: NC_000018.10:g.680677_680678insG, NC_000018.9:g.680677_680678insG

Select item 14912764468.

rs1491276446 has merged into rs71174275 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:702276 (GRCh38)
18:702276 (GRCh37)
Canonical SPDI:: NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:702264:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.702276_702286del, NC_000018.10:g.702277_702286del, NC_000018.10:g.702282_702286del, NC_000018.10:g.702283_702286del, NC_000018.10:g.702284_702286del, NC_000018.10:g.702285_702286del, NC_000018.10:g.702286del, NC_000018.10:g.702286dup, NC_000018.10:g.702285_702286dup, NC_000018.10:g.702284_702286dup, NC_000018.10:g.702283_702286dup, NC_000018.10:g.702282_702286dup, NC_000018.10:g.702281_702286dup, NC_000018.10:g.702280_702286dup, NC_000018.10:g.702277_702286dup, NC_000018.10:g.702276_702286dup, NC_000018.9:g.702276_702286del, NC_000018.9:g.702277_702286del, NC_000018.9:g.702282_702286del, NC_000018.9:g.702283_702286del, NC_000018.9:g.702284_702286del, NC_000018.9:g.702285_702286del, NC_000018.9:g.702286del, NC_000018.9:g.702286dup, NC_000018.9:g.702285_702286dup, NC_000018.9:g.702284_702286dup, NC_000018.9:g.702283_702286dup, NC_000018.9:g.702282_702286dup, NC_000018.9:g.702281_702286dup, NC_000018.9:g.702280_702286dup, NC_000018.9:g.702277_702286dup, NC_000018.9:g.702276_702286dup

Select item 14912689249.

rs1491268924 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:700916 (GRCh38)
18:700916 (GRCh37)
Canonical SPDI:: NC_000018.10:700915:AA:
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00036/6 (TOMMO)
HGVS:: NC_000018.10:g.700916_700917del, NC_000018.9:g.700916_700917del

Select item 149126241610.

rs1491262416 has merged into rs11429267 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:704450 (GRCh38)
18:704450 (GRCh37)
Canonical SPDI:: NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:704440:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.704450_704457del, NC_000018.10:g.704451_704457del, NC_000018.10:g.704452_704457del, NC_000018.10:g.704453_704457del, NC_000018.10:g.704454_704457del, NC_000018.10:g.704455_704457del, NC_000018.10:g.704456_704457del, NC_000018.10:g.704457del, NC_000018.10:g.704457dup, NC_000018.10:g.704456_704457dup, NC_000018.10:g.704455_704457dup, NC_000018.10:g.704454_704457dup, NC_000018.10:g.704453_704457dup, NC_000018.10:g.704452_704457dup, NC_000018.10:g.704451_704457dup, NC_000018.10:g.704450_704457dup, NC_000018.10:g.704449_704457dup, NC_000018.10:g.704448_704457dup, NC_000018.10:g.704447_704457dup, NC_000018.10:g.704446_704457dup, NC_000018.10:g.704445_704457dup, NC_000018.10:g.704444_704457dup, NC_000018.10:g.704443_704457dup, NC_000018.10:g.704442_704457dup, NC_000018.10:g.704457_704458insAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.704457_704458insAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.704450_704457del, NC_000018.9:g.704451_704457del, NC_000018.9:g.704452_704457del, NC_000018.9:g.704453_704457del, NC_000018.9:g.704454_704457del, NC_000018.9:g.704455_704457del, NC_000018.9:g.704456_704457del, NC_000018.9:g.704457del, NC_000018.9:g.704457dup, NC_000018.9:g.704456_704457dup, NC_000018.9:g.704455_704457dup, NC_000018.9:g.704454_704457dup, NC_000018.9:g.704453_704457dup, NC_000018.9:g.704452_704457dup, NC_000018.9:g.704451_704457dup, NC_000018.9:g.704450_704457dup, NC_000018.9:g.704449_704457dup, NC_000018.9:g.704448_704457dup, NC_000018.9:g.704447_704457dup, NC_000018.9:g.704446_704457dup, NC_000018.9:g.704445_704457dup, NC_000018.9:g.704444_704457dup, NC_000018.9:g.704443_704457dup, NC_000018.9:g.704442_704457dup, NC_000018.9:g.704457_704458insAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.704457_704458insAAAAAAAAAAAAAAAAAAAA

Select item 149121368811.

rs1491213688 has merged into rs60666075 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 18:684873 (GRCh38)
18:684873 (GRCh37)
Canonical SPDI:: NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTT,NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.21397/392 (Korea1K)
HGVS:: NC_000018.10:g.684873_684876del, NC_000018.10:g.684874_684876del, NC_000018.10:g.684875_684876del, NC_000018.10:g.684876del, NC_000018.10:g.684876dup, NC_000018.10:g.684875_684876dup, NC_000018.9:g.684873_684876del, NC_000018.9:g.684874_684876del, NC_000018.9:g.684875_684876del, NC_000018.9:g.684876del, NC_000018.9:g.684876dup, NC_000018.9:g.684875_684876dup

Select item 149121090012.

rs1491210900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAA [Show Flanks]
Chromosome:: 18:704441 (GRCh38)
18:704442 (GRCh37)
Canonical SPDI:: NC_000018.10:704441:AAA:AAAGAAA
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAA=0.00017/2 (ALFA)
AAAG=0.0002/5 (GnomAD)
AAAG=0.00021/3 (TOMMO)
HGVS:: NC_000018.10:g.704444_704445insGAAA, NC_000018.9:g.704444_704445insGAAA

Select item 149118295313.

rs1491182953 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGA,CGA [Show Flanks]
Chromosome:: 18:700916 (GRCh38)
18:700917 (GRCh37)
Canonical SPDI:: NC_000018.10:700916:A:AAGA,NC_000018.10:700916:A:ACGA
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGA=0.00007/1 (ALFA)
HGVS:: NC_000018.10:g.700917_700918insAGA, NC_000018.10:g.700917_700918insCGA, NC_000018.9:g.700917_700918insAGA, NC_000018.9:g.700917_700918insCGA

Select item 149111438414.

rs1491114384 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:702264 (GRCh38)
18:702264 (GRCh37)
Canonical SPDI:: NC_000018.10:702263:CA:
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00194/23 (ALFA)
-=0.00117/33 (TOMMO)
HGVS:: NC_000018.10:g.702264_702265del, NC_000018.9:g.702264_702265del

Select item 149110976815.

rs1491109768 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:699813 (GRCh38)
18:699814 (GRCh37)
Canonical SPDI:: NC_000018.10:699813:T:TT
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.699814dup, NC_000018.9:g.699814dup

Select item 149106884816.

rs1491068848 has merged into rs368856668 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:696215 (GRCh38)
18:696215 (GRCh37)
Canonical SPDI:: NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:696204:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.696215_696224del, NC_000018.10:g.696216_696224del, NC_000018.10:g.696217_696224del, NC_000018.10:g.696218_696224del, NC_000018.10:g.696219_696224del, NC_000018.10:g.696220_696224del, NC_000018.10:g.696221_696224del, NC_000018.10:g.696222_696224del, NC_000018.10:g.696223_696224del, NC_000018.10:g.696224del, NC_000018.10:g.696224dup, NC_000018.10:g.696223_696224dup, NC_000018.10:g.696222_696224dup, NC_000018.10:g.696221_696224dup, NC_000018.10:g.696220_696224dup, NC_000018.10:g.696219_696224dup, NC_000018.10:g.696218_696224dup, NC_000018.10:g.696217_696224dup, NC_000018.10:g.696216_696224dup, NC_000018.10:g.696215_696224dup, NC_000018.10:g.696214_696224dup, NC_000018.10:g.696213_696224dup, NC_000018.10:g.696212_696224dup, NC_000018.10:g.696211_696224dup, NC_000018.10:g.696210_696224dup, NC_000018.10:g.696209_696224dup, NC_000018.10:g.696208_696224dup, NC_000018.10:g.696207_696224dup, NC_000018.10:g.696206_696224dup, NC_000018.10:g.696205_696224dup, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696215_696224del, NC_000018.9:g.696216_696224del, NC_000018.9:g.696217_696224del, NC_000018.9:g.696218_696224del, NC_000018.9:g.696219_696224del, NC_000018.9:g.696220_696224del, NC_000018.9:g.696221_696224del, NC_000018.9:g.696222_696224del, NC_000018.9:g.696223_696224del, NC_000018.9:g.696224del, NC_000018.9:g.696224dup, NC_000018.9:g.696223_696224dup, NC_000018.9:g.696222_696224dup, NC_000018.9:g.696221_696224dup, NC_000018.9:g.696220_696224dup, NC_000018.9:g.696219_696224dup, NC_000018.9:g.696218_696224dup, NC_000018.9:g.696217_696224dup, NC_000018.9:g.696216_696224dup, NC_000018.9:g.696215_696224dup, NC_000018.9:g.696214_696224dup, NC_000018.9:g.696213_696224dup, NC_000018.9:g.696212_696224dup, NC_000018.9:g.696211_696224dup, NC_000018.9:g.696210_696224dup, NC_000018.9:g.696209_696224dup, NC_000018.9:g.696208_696224dup, NC_000018.9:g.696207_696224dup, NC_000018.9:g.696206_696224dup, NC_000018.9:g.696205_696224dup, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.696224_696225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149104384617.

rs1491043846 has merged into rs1225781340 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 18:696202 (GRCh38)
18:696202 (GRCh37)
Canonical SPDI:: NC_000018.10:696196:TCTCTCTCT:TCTCT,NC_000018.10:696196:TCTCTCTCT:TCTCTCT,NC_000018.10:696196:TCTCTCTCT:TCTCTCTCTCT
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCT=0./0 (ALFA)
-=0.01142/44 (ALSPAC)
HGVS:: NC_000018.10:g.696198CT[2], NC_000018.10:g.696198CT[3], NC_000018.10:g.696198CT[5], NC_000018.9:g.696198CT[2], NC_000018.9:g.696198CT[3], NC_000018.9:g.696198CT[5]

Select item 149104320118.

rs1491043201 has merged into rs71174274 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 18:701769 (GRCh38)
18:701769 (GRCh37)
Canonical SPDI:: NC_000018.10:701756:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:701756:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:701756:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:701756:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:701756:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:701756:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:701756:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ENOSF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4844/2426 (1000Genomes)
HGVS:: NC_000018.10:g.701769_701771del, NC_000018.10:g.701770_701771del, NC_000018.10:g.701771del, NC_000018.10:g.701771dup, NC_000018.10:g.701770_701771dup, NC_000018.10:g.701769_701771dup, NC_000018.10:g.701768_701771dup, NC_000018.9:g.701769_701771del, NC_000018.9:g.701770_701771del, NC_000018.9:g.701771del, NC_000018.9:g.701771dup, NC_000018.9:g.701770_701771dup, NC_000018.9:g.701769_701771dup, NC_000018.9:g.701768_701771dup

Select item 149096365419.

rs1490963654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:709089 (GRCh38)
18:709089 (GRCh37)
Canonical SPDI:: NC_000018.10:709088:T:C
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.709089T>C, NC_000018.9:g.709089T>C

Select item 149091224520.

rs1490912245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:690051 (GRCh38)
18:690051 (GRCh37)
Canonical SPDI:: NC_000018.10:690050:G:A
Gene:: ENOSF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.690051G>A, NC_000018.9:g.690051G>A

<< First< Prev

Page of 597

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 11930

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity