SNP Links for Protein (Select 56847616) - SNP

Variant type:: DELINS
Alleles:: ATGTT>- [Show Flanks]
Chromosome:: 13:23896937 (GRCh38)
13:24471076 (GRCh37)
Canonical SPDI:: NC_000013.11:23896934:TTATGTT:TT
Gene:: C1QTNF9B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000013.11:g.23896937_23896941del, NC_000013.10:g.24471076_24471080del, NM_001007537.2:c.48_52del, NM_001007537.1:c.48_52del, NR_104426.1:n.258_262del, XM_047430301.1:c.-62_-58del, NP_001007538.1:p.Asn16fs

Select item 14732972697.

rs1473297269 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 13:23891851 (GRCh38)
13:24465990 (GRCh37)
Canonical SPDI:: NC_000013.11:23891850:GGG:GG
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.23891853del, NC_000013.10:g.24465992del, NG_052977.1:g.2598del, NM_001014442.4:c.246del, NM_001014442.3:c.246del, NM_001135816.3:c.273del, NM_001007537.2:c.440del, NM_001007537.1:c.440del, NM_001014442.2:c.246del, NM_001348112.2:c.273del, NM_001348113.2:c.246del, NM_001348114.2:c.246del, NM_001135816.2:c.273del, NR_172516.1:n.703del, NR_172514.1:n.633del, NR_172515.1:n.622del, NM_001348112.1:c.273del, NR_172510.1:n.575del, NR_172512.1:n.553del, NM_001348113.1:c.246del, NR_172513.1:n.519del, NM_001348114.1:c.246del, NM_001135816.1:c.273del, NR_172511.1:n.438del, NP_001007538.1:p.Pro147fs

Select item 14707370438.

rs1470737043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:23894195 (GRCh38)
13:24468334 (GRCh37)
Canonical SPDI:: NC_000013.11:23894194:G:C
Gene:: C1QTNF9B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000013.11:g.23894195G>C, NC_000013.10:g.24468334G>C, NG_052977.1:g.254C>G, NM_001007537.2:c.173C>G, NM_001007537.1:c.173C>G, NR_104426.1:n.383C>G, XM_047430301.1:c.196C>G, NP_001007538.1:p.Pro58Arg, XP_047286257.1:p.Gln66Glu

Select item 14699403519.

rs1469940351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:23896915 (GRCh38)
13:24471054 (GRCh37)
Canonical SPDI:: NC_000013.11:23896914:C:T
Gene:: C1QTNF9B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.23896915C>T, NC_000013.10:g.24471054C>T, NM_001007537.2:c.72G>A, NM_001007537.1:c.72G>A, NR_104426.1:n.282G>A, XM_047430301.1:c.-38G>A

Select item 146626966710.

rs1466269667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:23891306 (GRCh38)
13:24465445 (GRCh37)
Canonical SPDI:: NC_000013.11:23891305:G:C
Gene:: MIPEP (Varview), C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.23891306G>C, NC_000013.10:g.24465445G>C, NG_052977.1:g.3143C>G, NM_001007537.2:c.985C>G, NM_001007537.1:c.985C>G, NM_001348112.2:c.-113G>C, NR_104426.1:n.681C>G, NM_001348112.1:c.-113G>C, XM_047430301.1:c.*134C>G, NR_172512.1:n.168G>C, NP_001007538.1:p.Leu329Val

Select item 146372263011.

rs1463722630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:23894150 (GRCh38)
13:24468289 (GRCh37)
Canonical SPDI:: NC_000013.11:23894149:T:G
Gene:: C1QTNF9B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.23894150T>G, NC_000013.10:g.24468289T>G, NG_052977.1:g.299A>C, NM_001007537.2:c.218A>C, NM_001007537.1:c.218A>C, NR_104426.1:n.428A>C, XM_047430301.1:c.241A>C, NP_001007538.1:p.Lys73Thr

Select item 146371989212.

rs1463719892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:23891493 (GRCh38)
13:24465632 (GRCh37)
Canonical SPDI:: NC_000013.11:23891492:C:T
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,intron_variant
HGVS:: NC_000013.11:g.23891493C>T, NC_000013.10:g.24465632C>T, NG_052977.1:g.2956G>A, NM_001014442.4:c.-34C>T, NM_001014442.3:c.-34C>T, NM_001007537.2:c.798G>A, NM_001007537.1:c.798G>A, NM_001014442.2:c.-34C>T, NM_001348113.2:c.-34C>T, NM_001348114.2:c.-34C>T, NR_172516.1:n.424C>T, NR_104426.1:n.494G>A, NR_172514.1:n.354C>T, XM_047430301.1:c.307G>A, NR_172510.1:n.296C>T, NM_001348113.1:c.-34C>T, NR_172513.1:n.240C>T, NM_001348114.1:c.-34C>T, XP_047286257.1:p.Gly103Ser

Select item 146363885413.

rs1463638854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:23894141 (GRCh38)
13:24468280 (GRCh37)
Canonical SPDI:: NC_000013.11:23894140:C:T
Gene:: C1QTNF9B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000074/2 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.23894141C>T, NC_000013.10:g.24468280C>T, NG_052977.1:g.308G>A, NM_001007537.2:c.227G>A, NM_001007537.1:c.227G>A, NR_104426.1:n.437G>A, XM_047430301.1:c.250G>A, NP_001007538.1:p.Arg76Gln, XP_047286257.1:p.Glu84Lys

Select item 146363370714.

rs1463633707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:23891992 (GRCh38)
13:24466131 (GRCh37)
Canonical SPDI:: NC_000013.11:23891991:T:C
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.23891992T>C, NC_000013.10:g.24466131T>C, NG_052977.1:g.2457A>G, NM_001014442.4:c.*61T>C, NM_001014442.3:c.*61T>C, NM_001135816.3:c.*61T>C, NM_001007537.2:c.299A>G, NM_001007537.1:c.299A>G, NM_001014442.2:c.*61T>C, NM_001348112.2:c.*61T>C, NM_001348113.2:c.*61T>C, NM_001348114.2:c.*61T>C, NM_001135816.2:c.*61T>C, NR_172516.1:n.842T>C, NR_172514.1:n.772T>C, NR_172515.1:n.761T>C, NM_001348112.1:c.*61T>C, NR_172510.1:n.714T>C, NR_172512.1:n.692T>C, NM_001348113.1:c.*61T>C, NR_172513.1:n.658T>C, NM_001348114.1:c.*61T>C, NM_001135816.1:c.*61T>C, NR_172511.1:n.577T>C, NP_001007538.1:p.His100Arg

Select item 144844711315.

rs1448447113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:23896829 (GRCh38)
13:24470968 (GRCh37)
Canonical SPDI:: NC_000013.11:23896828:C:T
Gene:: C1QTNF9B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.23896829C>T, NC_000013.10:g.24470968C>T, NM_001007537.2:c.158G>A, NM_001007537.1:c.158G>A, NR_104426.1:n.368G>A, XM_047430301.1:c.49G>A, NP_001007538.1:p.Gly53Asp, XP_047286257.1:p.Ala17Thr

Select item 144833180516.

rs1448331805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:23891404 (GRCh38)
13:24465543 (GRCh37)
Canonical SPDI:: NC_000013.11:23891403:T:C
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.23891404T>C, NC_000013.10:g.24465543T>C, NG_052977.1:g.3045A>G, NM_001014442.4:c.-123T>C, NM_001014442.3:c.-123T>C, NM_001135816.3:c.-15T>C, NM_001007537.2:c.887A>G, NM_001007537.1:c.887A>G, NM_001014442.2:c.-123T>C, NM_001348112.2:c.-15T>C, NM_001348113.2:c.-123T>C, NM_001348114.2:c.-123T>C, NM_001135816.2:c.-15T>C, NR_172516.1:n.335T>C, NR_104426.1:n.583A>G, NR_172514.1:n.265T>C, NR_172515.1:n.335T>C, NM_001348112.1:c.-15T>C, XM_047430301.1:c.*36A>G, NR_172510.1:n.207T>C, NR_172512.1:n.266T>C, NM_001348113.1:c.-123T>C, NR_172513.1:n.151T>C, NM_001348114.1:c.-123T>C, NM_001135816.1:c.-15T>C, NR_172511.1:n.151T>C, NP_001007538.1:p.Lys296Arg

Select item 144787693817.

rs1447876938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:23891441 (GRCh38)
13:24465580 (GRCh37)
Canonical SPDI:: NC_000013.11:23891440:C:T
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,terminator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.23891441C>T, NC_000013.10:g.24465580C>T, NG_052977.1:g.3008G>A, NM_001014442.4:c.-86C>T, NM_001014442.3:c.-86C>T, NM_001135816.3:c.23C>T, NM_001007537.2:c.850G>A, NM_001007537.1:c.850G>A, NM_001014442.2:c.-86C>T, NM_001348112.2:c.23C>T, NM_001348113.2:c.-86C>T, NM_001348114.2:c.-86C>T, NM_001135816.2:c.23C>T, NR_172516.1:n.372C>T, NR_104426.1:n.546G>A, NR_172514.1:n.302C>T, NR_172515.1:n.372C>T, NM_001348112.1:c.23C>T, XM_047430301.1:c.359G>A, NR_172510.1:n.244C>T, NR_172512.1:n.303C>T, NM_001348113.1:c.-86C>T, NR_172513.1:n.188C>T, NM_001348114.1:c.-86C>T, NM_001135816.1:c.23C>T, NR_172511.1:n.188C>T, NP_001007538.1:p.Glu284Lys

Select item 144421620418.

rs1444216204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:23891943 (GRCh38)
13:24466082 (GRCh37)
Canonical SPDI:: NC_000013.11:23891942:T:C
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.23891943T>C, NC_000013.10:g.24466082T>C, NG_052977.1:g.2506A>G, NM_001014442.4:c.*12T>C, NM_001014442.3:c.*12T>C, NM_001135816.3:c.*12T>C, NM_001007537.2:c.348A>G, NM_001007537.1:c.348A>G, NM_001014442.2:c.*12T>C, NM_001348112.2:c.*12T>C, NM_001348113.2:c.*12T>C, NM_001348114.2:c.*12T>C, NM_001135816.2:c.*12T>C, NR_172516.1:n.793T>C, NR_172514.1:n.723T>C, NR_172515.1:n.712T>C, NM_001348112.1:c.*12T>C, NR_172510.1:n.665T>C, NR_172512.1:n.643T>C, NM_001348113.1:c.*12T>C, NR_172513.1:n.609T>C, NM_001348114.1:c.*12T>C, NM_001135816.1:c.*12T>C, NR_172511.1:n.528T>C

Select item 144396557919.

rs1443965579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:23891910 (GRCh38)
13:24466049 (GRCh37)
Canonical SPDI:: NC_000013.11:23891909:C:T
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.23891910C>T, NC_000013.10:g.24466049C>T, NG_052977.1:g.2539G>A, NM_001014442.4:c.303C>T, NM_001014442.3:c.303C>T, NM_001135816.3:c.330C>T, NM_001007537.2:c.381G>A, NM_001007537.1:c.381G>A, NM_001014442.2:c.303C>T, NM_001348112.2:c.330C>T, NM_001348113.2:c.303C>T, NM_001348114.2:c.303C>T, NM_001135816.2:c.330C>T, NR_172516.1:n.760C>T, NR_172514.1:n.690C>T, NR_172515.1:n.679C>T, NM_001348112.1:c.330C>T, NR_172510.1:n.632C>T, NR_172512.1:n.610C>T, NM_001348113.1:c.303C>T, NR_172513.1:n.576C>T, NM_001348114.1:c.303C>T, NM_001135816.1:c.330C>T, NR_172511.1:n.495C>T

Select item 144273537620.

rs1442735376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:23891431 (GRCh38)
13:24465570 (GRCh37)
Canonical SPDI:: NC_000013.11:23891430:G:T
Gene:: C1QTNF9B (Varview), PCOTH (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000095/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.23891431G>T, NC_000013.10:g.24465570G>T, NG_052977.1:g.3018C>A, NM_001014442.4:c.-96G>T, NM_001014442.3:c.-96G>T, NM_001135816.3:c.13G>T, NM_001007537.2:c.860C>A, NM_001007537.1:c.860C>A, NM_001014442.2:c.-96G>T, NM_001348112.2:c.13G>T, NM_001348113.2:c.-96G>T, NM_001348114.2:c.-96G>T, NM_001135816.2:c.13G>T, NR_172516.1:n.362G>T, NR_104426.1:n.556C>A, NR_172514.1:n.292G>T, NR_172515.1:n.362G>T, NM_001348112.1:c.13G>T, XM_047430301.1:c.*9C>A, NR_172510.1:n.234G>T, NR_172512.1:n.293G>T, NM_001348113.1:c.-96G>T, NR_172513.1:n.178G>T, NM_001348114.1:c.-96G>T, NM_001135816.1:c.13G>T, NR_172511.1:n.178G>T, NP_001007538.1:p.Ala287Asp

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