SNP Links for Gene (Select 105377205) - SNP

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Select item 14914669151.

rs1491466915 [Homo sapiens]

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

Select item 14914138522.

rs1491413852 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:49832716 (GRCh38)
22:50226365 (GRCh37)
Canonical SPDI:: NC_000022.11:49832716::C
Gene:: LOC105377205 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000216/4 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.004565/527 (GnomAD)
HGVS:: NC_000022.11:g.49832716_49832717insC, NC_000022.10:g.50226364_50226365insC

Select item 14913388793.

rs1491338879 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACA,ACACACA,ACACACACA,ACACACACACACA,ACACACACACACACA,ACACACACAG,ACACACAG,ACCCAT [Show Flanks]
Chromosome:: 22:49832765 (GRCh38)
22:50226414 (GRCh37)
Canonical SPDI:: NC_000022.11:49832765::A,NC_000022.11:49832765::ACA,NC_000022.11:49832765::ACACACA,NC_000022.11:49832765::ACACACACA,NC_000022.11:49832765::ACACACACACACA,NC_000022.11:49832765::ACACACACACACACA,NC_000022.11:49832765::ACACACACAG,NC_000022.11:49832765::ACACACAG,NC_000022.11:49832765::ACCCAT
Gene:: LOC105377205 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACAG=0./0 (ALFA)
ACACACAG=0.000004/1 (TOPMED)
ACACACA=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.49832765_49832766insA, NC_000022.11:g.49832765_49832766insACA, NC_000022.11:g.49832765_49832766insACACACA, NC_000022.11:g.49832765_49832766insACACACACA, NC_000022.11:g.49832765_49832766insACACACACACACA, NC_000022.11:g.49832765_49832766insACACACACACACACA, NC_000022.11:g.49832765_49832766insACACACACAG, NC_000022.11:g.49832765_49832766insACACACAG, NC_000022.11:g.49832765_49832766insACCCAT, NC_000022.10:g.50226413_50226414insA, NC_000022.10:g.50226413_50226414insACA, NC_000022.10:g.50226413_50226414insACACACA, NC_000022.10:g.50226413_50226414insACACACACA, NC_000022.10:g.50226413_50226414insACACACACACACA, NC_000022.10:g.50226413_50226414insACACACACACACACA, NC_000022.10:g.50226413_50226414insACACACACAG, NC_000022.10:g.50226413_50226414insACACACAG, NC_000022.10:g.50226413_50226414insACCCAT

Select item 14911440204.

rs1491144020 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:49832717 (GRCh38)
22:50226365 (GRCh37)
Canonical SPDI:: NC_000022.11:49832715:AAA:A
Gene:: LOC105377205 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001265/15 (ALFA)
-=0.006758/745 (GnomAD)
HGVS:: NC_000022.11:g.49832717_49832718del, NC_000022.10:g.50226365_50226366del

Select item 14910523745.

rs1491052374 has merged into rs746921769 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:49832374 (GRCh38)
22:50226022 (GRCh37)
Canonical SPDI:: NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:49832367:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.49832374_49832386del, NC_000022.11:g.49832375_49832386del, NC_000022.11:g.49832377_49832386del, NC_000022.11:g.49832378_49832386del, NC_000022.11:g.49832379_49832386del, NC_000022.11:g.49832380_49832386del, NC_000022.11:g.49832384_49832386del, NC_000022.11:g.49832385_49832386del, NC_000022.11:g.49832386del, NC_000022.11:g.49832386dup, NC_000022.11:g.49832385_49832386dup, NC_000022.11:g.49832383_49832386dup, NC_000022.11:g.49832382_49832386dup, NC_000022.11:g.49832380_49832386dup, NC_000022.11:g.49832379_49832386dup, NC_000022.11:g.49832378_49832386dup, NC_000022.11:g.49832374_49832386dup, NC_000022.11:g.49832373_49832386dup, NC_000022.10:g.50226022_50226034del, NC_000022.10:g.50226023_50226034del, NC_000022.10:g.50226025_50226034del, NC_000022.10:g.50226026_50226034del, NC_000022.10:g.50226027_50226034del, NC_000022.10:g.50226028_50226034del, NC_000022.10:g.50226032_50226034del, NC_000022.10:g.50226033_50226034del, NC_000022.10:g.50226034del, NC_000022.10:g.50226034dup, NC_000022.10:g.50226033_50226034dup, NC_000022.10:g.50226031_50226034dup, NC_000022.10:g.50226030_50226034dup, NC_000022.10:g.50226028_50226034dup, NC_000022.10:g.50226027_50226034dup, NC_000022.10:g.50226026_50226034dup, NC_000022.10:g.50226022_50226034dup, NC_000022.10:g.50226021_50226034dup

Select item 14908808576.

rs1490880857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:49832606 (GRCh38)
22:50226254 (GRCh37)
Canonical SPDI:: NC_000022.11:49832605:A:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.49832606A>C, NC_000022.10:g.50226254A>C

Select item 14906443227.

rs1490644322 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:49852841 (GRCh38)
22:50246489 (GRCh37)
Canonical SPDI:: NC_000022.11:49852840:CT:
Gene:: ZBED4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.49852841_49852842del, NC_000022.10:g.50246489_50246490del

Select item 14906191588.

rs1490619158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:49852028 (GRCh38)
22:50245676 (GRCh37)
Canonical SPDI:: NC_000022.11:49852027:T:A
Gene:: ZBED4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.49852028T>A, NC_000022.10:g.50245676T>A

Select item 14905927849.

rs1490592784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:49840998 (GRCh38)
22:50234646 (GRCh37)
Canonical SPDI:: NC_000022.11:49840997:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.49840998C>T, NC_000022.10:g.50234646C>T

Select item 149059119610.

rs1490591196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:49839332 (GRCh38)
22:50232980 (GRCh37)
Canonical SPDI:: NC_000022.11:49839331:A:G
Gene:: LOC105377205 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.49839332A>G, NC_000022.10:g.50232980A>G

Select item 149056544911.

rs1490565449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:49840225 (GRCh38)
22:50233873 (GRCh37)
Canonical SPDI:: NC_000022.11:49840224:T:C
Gene:: LOC105377205 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000022.11:g.49840225T>C, NC_000022.10:g.50233873T>C

Select item 149053220812.

rs1490532208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:49853564 (GRCh38)
22:50247212 (GRCh37)
Canonical SPDI:: NC_000022.11:49853563:G:A
Gene:: ZBED4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.49853564G>A, NC_000022.10:g.50247212G>A

Select item 149050305213.

rs1490503052 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 22:49833816 (GRCh38)
22:50227464 (GRCh37)
Canonical SPDI:: NC_000022.11:49833815:AA:A
Gene:: LOC105377205 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.49833817del, NC_000022.10:g.50227465del

Select item 149044889414.

rs1490448894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:49847536 (GRCh38)
22:50241184 (GRCh37)
Canonical SPDI:: NC_000022.11:49847535:G:A
Gene:: LOC124905156 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.49847536G>A, NC_000022.10:g.50241184G>A

Select item 149026629715.

rs1490266297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:49838616 (GRCh38)
22:50232264 (GRCh37)
Canonical SPDI:: NC_000022.11:49838615:A:T
Gene:: LOC105377205 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.49838616A>T, NC_000022.10:g.50232264A>T

Select item 149017194316.

rs1490171943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:49845726 (GRCh38)
22:50239374 (GRCh37)
Canonical SPDI:: NC_000022.11:49845725:T:G
Gene:: LOC124905156 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.49845726T>G, NC_000022.10:g.50239374T>G, XM_047441701.1:c.*773A>C

Select item 148980434017.

rs1489804340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:49851574 (GRCh38)
22:50245222 (GRCh37)
Canonical SPDI:: NC_000022.11:49851573:T:C
Gene:: ZBED4 (Varview), LOC124905156 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.49851574T>C, NC_000022.10:g.50245222T>C

Select item 148975910618.

rs1489759106 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:49838956 (GRCh38)
22:50232605 (GRCh37)
Canonical SPDI:: NC_000022.11:49838956::T
Gene:: LOC105377205 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.49838956_49838957insT, NC_000022.10:g.50232604_50232605insT

Select item 148970573419.

rs1489705734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:49834429 (GRCh38)
22:50228077 (GRCh37)
Canonical SPDI:: NC_000022.11:49834428:G:C
Gene:: LOC105377205 (Varview)
Functional Consequence:: 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_000022.11:g.49834429G>C, NC_000022.10:g.50228077G>C

Select item 148966305020.

rs1489663050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:49847077 (GRCh38)
22:50240725 (GRCh37)
Canonical SPDI:: NC_000022.11:49847076:C:T
Gene:: LOC124905156 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.49847077C>T, NC_000022.10:g.50240725C>T

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