SNP Links for Gene (Select 390664) - SNP

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Select item 14913246031.

rs1491324603 has merged into rs61118807 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:1087853 (GRCh38)
16:1137853 (GRCh37)
Canonical SPDI:: NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:1087842:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.216653/1085 (1000Genomes)
HGVS:: NC_000016.10:g.1087853_1087860del, NC_000016.10:g.1087854_1087860del, NC_000016.10:g.1087857_1087860del, NC_000016.10:g.1087858_1087860del, NC_000016.10:g.1087859_1087860del, NC_000016.10:g.1087860del, NC_000016.10:g.1087860dup, NC_000016.10:g.1087859_1087860dup, NC_000016.10:g.1087858_1087860dup, NC_000016.10:g.1087857_1087860dup, NC_000016.10:g.1087855_1087860dup, NC_000016.9:g.1137853_1137860del, NC_000016.9:g.1137854_1137860del, NC_000016.9:g.1137857_1137860del, NC_000016.9:g.1137858_1137860del, NC_000016.9:g.1137859_1137860del, NC_000016.9:g.1137860del, NC_000016.9:g.1137860dup, NC_000016.9:g.1137859_1137860dup, NC_000016.9:g.1137858_1137860dup, NC_000016.9:g.1137857_1137860dup, NC_000016.9:g.1137855_1137860dup

Select item 14912294052.

rs1491229405 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:1087842 (GRCh38)
16:1137842 (GRCh37)
Canonical SPDI:: NC_000016.10:1087841:CA:
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000016.10:g.1087842_1087843del, NC_000016.9:g.1137842_1137843del

Select item 14909483453.

rs1490948345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1089559 (GRCh38)
16:1139559 (GRCh37)
Canonical SPDI:: NC_000016.10:1089558:G:A
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000016.10:g.1089559G>A, NC_000016.9:g.1139559G>A, NM_207419.3:c.*1040C>T, XR_001751901.1:n.2070C>T, XM_047434100.1:c.*1040C>T

Select item 14906907474.

rs1490690747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1095602 (GRCh38)
16:1145602 (GRCh37)
Canonical SPDI:: NC_000016.10:1095601:G:A
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 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_000016.10:g.1095602G>A, NC_000016.9:g.1145602G>A

Select item 14902599635.

rs1490259963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:1093438 (GRCh38)
16:1143438 (GRCh37)
Canonical SPDI:: NC_000016.10:1093437:A:C
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.1093438A>C, NC_000016.9:g.1143438A>C, XM_047434101.1:c.*63T>G, XM_047434099.1:c.*63T>G

Select item 14900874566.

rs1490087456 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCCCTCCTCCC>- [Show Flanks]
Chromosome:: 16:1094624 (GRCh38)
16:1144624 (GRCh37)
Canonical SPDI:: NC_000016.10:1094617:CCTCCCGCCCCTCCTCCC:CCTCCC
Gene:: C1QTNF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1094624_1094635del, NC_000016.9:g.1144624_1144635del

Select item 14900575987.

rs1490057598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:1095285 (GRCh38)
16:1145285 (GRCh37)
Canonical SPDI:: NC_000016.10:1095284:T:G
Gene:: C1QTNF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1095285T>G, NC_000016.9:g.1145285T>G

Select item 14897458298.

rs1489745829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1090905 (GRCh38)
16:1140905 (GRCh37)
Canonical SPDI:: NC_000016.10:1090904:G:A,NC_000016.10:1090904:G:C
Gene:: C1QTNF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1090905G>A, NC_000016.10:g.1090905G>C, NC_000016.9:g.1140905G>A, NC_000016.9:g.1140905G>C

Select item 14895258239.

rs1489525823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1097635 (GRCh38)
16:1147635 (GRCh37)
Canonical SPDI:: NC_000016.10:1097634:G:A
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1097635G>A, NC_000016.9:g.1147635G>A

Select item 148951104610.

rs1489511046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1088161 (GRCh38)
16:1138161 (GRCh37)
Canonical SPDI:: NC_000016.10:1088160:G:A
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.1088161G>A, NC_000016.9:g.1138161G>A

Select item 148902893211.

rs1489028932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1093154 (GRCh38)
16:1143154 (GRCh37)
Canonical SPDI:: NC_000016.10:1093153:G:A
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/4 (GnomAD)
HGVS:: NC_000016.10:g.1093154G>A, NC_000016.9:g.1143154G>A, XM_047434101.1:c.*347C>T, XM_047434099.1:c.*347C>T

Select item 148876912212.

rs1488769122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1095361 (GRCh38)
16:1145361 (GRCh37)
Canonical SPDI:: NC_000016.10:1095360:G:A,NC_000016.10:1095360:G:C
Gene:: C1QTNF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1095361G>A, NC_000016.10:g.1095361G>C, NC_000016.9:g.1145361G>A, NC_000016.9:g.1145361G>C

Select item 148861172213.

rs1488611722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1097341 (GRCh38)
16:1147341 (GRCh37)
Canonical SPDI:: NC_000016.10:1097340:C:T
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000016.10:g.1097341C>T, NC_000016.9:g.1147341C>T

Select item 148856632314.

rs1488566323 has merged into rs138526622 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 16:1093468 (GRCh38)
16:1143468 (GRCh37)
Canonical SPDI:: NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGC,NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC,NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC,NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC,NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGC,NC_000016.10:1093456:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGC
Gene:: C1QTNF8 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCGCGCGCGCGCGC=0./0 (ALFA)
HGVS:: NC_000016.10:g.1093458GC[5], NC_000016.10:g.1093458GC[7], NC_000016.10:g.1093458GC[8], NC_000016.10:g.1093458GC[9], NC_000016.10:g.1093458GC[10], NC_000016.10:g.1093458GC[11], NC_000016.10:g.1093458GC[12], NC_000016.10:g.1093458GC[13], NC_000016.9:g.1143458GC[5], NC_000016.9:g.1143458GC[7], NC_000016.9:g.1143458GC[8], NC_000016.9:g.1143458GC[9], NC_000016.9:g.1143458GC[10], NC_000016.9:g.1143458GC[11], NC_000016.9:g.1143458GC[12], NC_000016.9:g.1143458GC[13], XM_047434101.1:c.*33CG[5], XM_047434101.1:c.*33CG[7], XM_047434101.1:c.*33CG[8], XM_047434101.1:c.*33CG[9], XM_047434101.1:c.*33CG[10], XM_047434101.1:c.*33CG[11], XM_047434101.1:c.*33CG[12], XM_047434101.1:c.*33CG[13], XM_047434099.1:c.*33CG[5], XM_047434099.1:c.*33CG[7], XM_047434099.1:c.*33CG[8], XM_047434099.1:c.*33CG[9], XM_047434099.1:c.*33CG[10], XM_047434099.1:c.*33CG[11], XM_047434099.1:c.*33CG[12], XM_047434099.1:c.*33CG[13]

Select item 148849840615.

rs1488498406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCATGTCT [Show Flanks]
Chromosome:: 16:1097978 (GRCh38)
16:1147979 (GRCh37)
Canonical SPDI:: NC_000016.10:1097978:GCATGTCT:GCATGTCTGCATGTCT
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCATGTCTGCATGTCT=0./0 (ALFA)
GCATGTCT=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1097979_1097986dup, NC_000016.9:g.1147979_1147986dup

Select item 148841454316.

rs1488414543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1096261 (GRCh38)
16:1146261 (GRCh37)
Canonical SPDI:: NC_000016.10:1096260:G:A
Gene:: C1QTNF8 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_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_000016.10:g.1096261G>A, NC_000016.9:g.1146261G>A, XR_001751901.1:n.46C>T, XM_047434100.1:c.-658C>T, XM_047434101.1:c.-312C>T, XM_047434099.1:c.-291C>T

Select item 148839504017.

rs1488395040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1093929 (GRCh38)
16:1143929 (GRCh37)
Canonical SPDI:: NC_000016.10:1093928:C:A,NC_000016.10:1093928:C:T
Gene:: C1QTNF8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000016.10:g.1093929C>A, NC_000016.10:g.1093929C>T, NC_000016.9:g.1143929C>A, NC_000016.9:g.1143929C>T, NM_207419.3:c.331G>T, NM_207419.3:c.331G>A, XR_001751901.1:n.1034G>T, XR_001751901.1:n.1034G>A, XM_047434100.1:c.331G>T, XM_047434100.1:c.331G>A, XM_047434101.1:c.331G>T, XM_047434101.1:c.331G>A, XM_047434099.1:c.331G>T, XM_047434099.1:c.331G>A, NP_997302.2:p.Ala111Ser, NP_997302.2:p.Ala111Thr, XP_047290056.1:p.Ala111Ser, XP_047290056.1:p.Ala111Thr, XP_047290057.1:p.Ala111Ser, XP_047290057.1:p.Ala111Thr, XP_047290055.1:p.Ala111Ser, XP_047290055.1:p.Ala111Thr

Select item 148834558918.

rs1488345589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:1097392 (GRCh38)
16:1147392 (GRCh37)
Canonical SPDI:: NC_000016.10:1097391:G:C
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1097392G>C, NC_000016.9:g.1147392G>C

Select item 148830576819.

rs1488305768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:1091848 (GRCh38)
16:1141848 (GRCh37)
Canonical SPDI:: NC_000016.10:1091847:C:A,NC_000016.10:1091847:C:G,NC_000016.10:1091847:C:T
Gene:: C1QTNF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.1091848C>A, NC_000016.10:g.1091848C>G, NC_000016.10:g.1091848C>T, NC_000016.9:g.1141848C>A, NC_000016.9:g.1141848C>G, NC_000016.9:g.1141848C>T

Select item 148811353120.

rs1488113531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:1095989 (GRCh38)
16:1145989 (GRCh37)
Canonical SPDI:: NC_000016.10:1095988:A:C
Gene:: C1QTNF8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.1095989A>C, NC_000016.9:g.1145989A>C, XR_001751901.1:n.318T>G, XM_047434100.1:c.-386T>G

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