SNP Links for Gene (Select 105372321) - SNP

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Select item 14914984141.

rs1491498414 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 19:21463068 (GRCh38)
19:21645871 (GRCh37)
Canonical SPDI:: NC_000019.10:21463068:TTT:TTTCTTT
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.03166/312 (GnomAD)
HGVS:: NC_000019.10:g.21463071_21463072insCTTT, NC_000019.9:g.21645873_21645874insCTTT

Select item 14913652852.

rs1491365285 has merged into rs547182399 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:21463076 (GRCh38)
19:21645878 (GRCh37)
Canonical SPDI:: NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21463067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.21463076_21463097del, NC_000019.10:g.21463078_21463097del, NC_000019.10:g.21463079_21463097del, NC_000019.10:g.21463080_21463097del, NC_000019.10:g.21463082_21463097del, NC_000019.10:g.21463083_21463097del, NC_000019.10:g.21463084_21463097del, NC_000019.10:g.21463085_21463097del, NC_000019.10:g.21463086_21463097del, NC_000019.10:g.21463087_21463097del, NC_000019.10:g.21463088_21463097del, NC_000019.10:g.21463089_21463097del, NC_000019.10:g.21463090_21463097del, NC_000019.10:g.21463091_21463097del, NC_000019.10:g.21463092_21463097del, NC_000019.10:g.21463093_21463097del, NC_000019.10:g.21463094_21463097del, NC_000019.10:g.21463095_21463097del, NC_000019.10:g.21463096_21463097del, NC_000019.10:g.21463097del, NC_000019.10:g.21463097dup, NC_000019.10:g.21463096_21463097dup, NC_000019.10:g.21463095_21463097dup, NC_000019.10:g.21463094_21463097dup, NC_000019.10:g.21463093_21463097dup, NC_000019.10:g.21463092_21463097dup, NC_000019.10:g.21463091_21463097dup, NC_000019.10:g.21463090_21463097dup, NC_000019.10:g.21463088_21463097dup, NC_000019.10:g.21463087_21463097dup, NC_000019.10:g.21463084_21463097dup, NC_000019.9:g.21645878_21645899del, NC_000019.9:g.21645880_21645899del, NC_000019.9:g.21645881_21645899del, NC_000019.9:g.21645882_21645899del, NC_000019.9:g.21645884_21645899del, NC_000019.9:g.21645885_21645899del, NC_000019.9:g.21645886_21645899del, NC_000019.9:g.21645887_21645899del, NC_000019.9:g.21645888_21645899del, NC_000019.9:g.21645889_21645899del, NC_000019.9:g.21645890_21645899del, NC_000019.9:g.21645891_21645899del, NC_000019.9:g.21645892_21645899del, NC_000019.9:g.21645893_21645899del, NC_000019.9:g.21645894_21645899del, NC_000019.9:g.21645895_21645899del, NC_000019.9:g.21645896_21645899del, NC_000019.9:g.21645897_21645899del, NC_000019.9:g.21645898_21645899del, NC_000019.9:g.21645899del, NC_000019.9:g.21645899dup, NC_000019.9:g.21645898_21645899dup, NC_000019.9:g.21645897_21645899dup, NC_000019.9:g.21645896_21645899dup, NC_000019.9:g.21645895_21645899dup, NC_000019.9:g.21645894_21645899dup, NC_000019.9:g.21645893_21645899dup, NC_000019.9:g.21645892_21645899dup, NC_000019.9:g.21645890_21645899dup, NC_000019.9:g.21645889_21645899dup, NC_000019.9:g.21645886_21645899dup

Select item 14912329823.

rs1491232982 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:21459724 (GRCh38)
19:21642526 (GRCh37)
Canonical SPDI:: NC_000019.10:21459723:CA:
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.05657/671 (ALFA)
-=0.0103/169 (TOMMO)
HGVS:: NC_000019.10:g.21459724_21459725del, NC_000019.9:g.21642526_21642527del

Select item 14912136324.

rs1491213632 has merged into rs11335935 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:21464666 (GRCh38)
19:21647468 (GRCh37)
Canonical SPDI:: NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21464659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105372321 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.2244/1124 (1000Genomes)
HGVS:: NC_000019.10:g.21464666_21464676del, NC_000019.10:g.21464669_21464676del, NC_000019.10:g.21464670_21464676del, NC_000019.10:g.21464672_21464676del, NC_000019.10:g.21464673_21464676del, NC_000019.10:g.21464674_21464676del, NC_000019.10:g.21464675_21464676del, NC_000019.10:g.21464676del, NC_000019.10:g.21464676dup, NC_000019.10:g.21464675_21464676dup, NC_000019.10:g.21464673_21464676dup, NC_000019.9:g.21647468_21647478del, NC_000019.9:g.21647471_21647478del, NC_000019.9:g.21647472_21647478del, NC_000019.9:g.21647474_21647478del, NC_000019.9:g.21647475_21647478del, NC_000019.9:g.21647476_21647478del, NC_000019.9:g.21647477_21647478del, NC_000019.9:g.21647478del, NC_000019.9:g.21647478dup, NC_000019.9:g.21647477_21647478dup, NC_000019.9:g.21647475_21647478dup

Select item 14911737765.

rs1491173776 has merged into rs553880706 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:21459735 (GRCh38)
19:21642537 (GRCh37)
Canonical SPDI:: NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21459724:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.21459735_21459750del, NC_000019.10:g.21459736_21459750del, NC_000019.10:g.21459738_21459750del, NC_000019.10:g.21459739_21459750del, NC_000019.10:g.21459741_21459750del, NC_000019.10:g.21459742_21459750del, NC_000019.10:g.21459743_21459750del, NC_000019.10:g.21459744_21459750del, NC_000019.10:g.21459745_21459750del, NC_000019.10:g.21459746_21459750del, NC_000019.10:g.21459747_21459750del, NC_000019.10:g.21459748_21459750del, NC_000019.10:g.21459749_21459750del, NC_000019.10:g.21459750del, NC_000019.10:g.21459750dup, NC_000019.10:g.21459749_21459750dup, NC_000019.10:g.21459748_21459750dup, NC_000019.10:g.21459747_21459750dup, NC_000019.9:g.21642537_21642552del, NC_000019.9:g.21642538_21642552del, NC_000019.9:g.21642540_21642552del, NC_000019.9:g.21642541_21642552del, NC_000019.9:g.21642543_21642552del, NC_000019.9:g.21642544_21642552del, NC_000019.9:g.21642545_21642552del, NC_000019.9:g.21642546_21642552del, NC_000019.9:g.21642547_21642552del, NC_000019.9:g.21642548_21642552del, NC_000019.9:g.21642549_21642552del, NC_000019.9:g.21642550_21642552del, NC_000019.9:g.21642551_21642552del, NC_000019.9:g.21642552del, NC_000019.9:g.21642552dup, NC_000019.9:g.21642551_21642552dup, NC_000019.9:g.21642550_21642552dup, NC_000019.9:g.21642549_21642552dup

Select item 14908953256.

rs1490895325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21448999 (GRCh38)
19:21631801 (GRCh37)
Canonical SPDI:: NC_000019.10:21448998:C:T
Gene:: LOC105372321 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,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_000019.10:g.21448999C>T, NC_000019.9:g.21631801C>T, XR_936418.4:n.758G>A, XR_936418.3:n.742G>A, XR_936418.2:n.742G>A, XR_936418.1:n.742G>A, XR_936420.4:n.407G>A, XR_936420.3:n.817G>A, XR_936420.2:n.817G>A, XR_936420.1:n.723G>A, XR_001754051.2:n.986G>A, XR_001754051.1:n.1413G>A

Select item 14907928007.

rs1490792800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21456608 (GRCh38)
19:21639410 (GRCh37)
Canonical SPDI:: NC_000019.10:21456607:C:T
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21456608C>T, NC_000019.9:g.21639410C>T

Select item 14902998958.

rs1490299895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:21457116 (GRCh38)
19:21639918 (GRCh37)
Canonical SPDI:: NC_000019.10:21457115:G:A,NC_000019.10:21457115:G:C
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.21457116G>A, NC_000019.10:g.21457116G>C, NC_000019.9:g.21639918G>A, NC_000019.9:g.21639918G>C

Select item 14902761269.

rs1490276126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21455191 (GRCh38)
19:21637993 (GRCh37)
Canonical SPDI:: NC_000019.10:21455190:C:T
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21455191C>T, NC_000019.9:g.21637993C>T

Select item 149020632310.

rs1490206323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:21452892 (GRCh38)
19:21635694 (GRCh37)
Canonical SPDI:: NC_000019.10:21452891:T:A,NC_000019.10:21452891:T:C
Gene:: LOC105372321 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21452892T>A, NC_000019.10:g.21452892T>C, NC_000019.9:g.21635694T>A, NC_000019.9:g.21635694T>C, XR_936424.3:n.767A>T, XR_936424.3:n.767A>G

Select item 148986477611.

rs1489864776 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 19:21457475 (GRCh38)
19:21640277 (GRCh37)
Canonical SPDI:: NC_000019.10:21457472:AGGAG:AG
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21457475_21457477del, NC_000019.9:g.21640277_21640279del

Select item 148981277712.

rs1489812777 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACGC>- [Show Flanks]
Chromosome:: 19:21451382 (GRCh38)
19:21634184 (GRCh37)
Canonical SPDI:: NC_000019.10:21451379:GCACGC:GC
Gene:: LOC105372321 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.21451382_21451385del, NC_000019.9:g.21634184_21634187del

Select item 148978224513.

rs1489782245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21465262 (GRCh38)
19:21648064 (GRCh37)
Canonical SPDI:: NC_000019.10:21465261:C:T
Gene:: LOC105372321 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.21465262C>T, NC_000019.9:g.21648064C>T

Select item 148977903014.

rs1489779030 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 19:21453833 (GRCh38)
19:21636635 (GRCh37)
Canonical SPDI:: NC_000019.10:21453829:AAAAA:AAA,NC_000019.10:21453829:AAAAA:AAAAAAA
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21453833_21453834del, NC_000019.10:g.21453833_21453834dup, NC_000019.9:g.21636635_21636636del, NC_000019.9:g.21636635_21636636dup

Select item 148970522915.

rs1489705229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21449452 (GRCh38)
19:21632254 (GRCh37)
Canonical SPDI:: NC_000019.10:21449451:G:A
Gene:: LOC105372321 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21449452G>A, NC_000019.9:g.21632254G>A

Select item 148969014616.

rs1489690146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21464825 (GRCh38)
19:21647627 (GRCh37)
Canonical SPDI:: NC_000019.10:21464824:T:C
Gene:: LOC105372321 (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_000019.10:g.21464825T>C, NC_000019.9:g.21647627T>C

Select item 148965464917.

rs1489654649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21448358 (GRCh38)
19:21631160 (GRCh37)
Canonical SPDI:: NC_000019.10:21448357:G:A
Gene:: LOC105372321 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_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_000019.10:g.21448358G>A, NC_000019.9:g.21631160G>A, XR_936418.4:n.1399C>T, XR_936418.3:n.1383C>T, XR_936418.2:n.1383C>T, XR_936418.1:n.1383C>T, XR_936420.4:n.1048C>T, XR_936420.3:n.1458C>T, XR_936420.2:n.1458C>T, XR_936420.1:n.1364C>T, XR_001754051.2:n.1627C>T, XR_001754051.1:n.2054C>T

Select item 148963810318.

rs1489638103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:21461586 (GRCh38)
19:21644388 (GRCh37)
Canonical SPDI:: NC_000019.10:21461585:G:A,NC_000019.10:21461585:G:T
Gene:: LOC105372321 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21461586G>A, NC_000019.10:g.21461586G>T, NC_000019.9:g.21644388G>A, NC_000019.9:g.21644388G>T

Select item 148962375819.

rs1489623758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:21450178 (GRCh38)
19:21632980 (GRCh37)
Canonical SPDI:: NC_000019.10:21450177:A:T
Gene:: LOC105372321 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21450178A>T, NC_000019.9:g.21632980A>T

Select item 148958356220.

rs1489583562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:21445562 (GRCh38)
19:21628364 (GRCh37)
Canonical SPDI:: NC_000019.10:21445561:A:T
Gene:: LOC105372321 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21445562A>T, NC_000019.9:g.21628364A>T, XR_936418.4:n.4195T>A, XR_936420.4:n.3844T>A, XR_936421.3:n.2615T>A, XR_001754051.2:n.4423T>A

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