SNP Links for Gene (Select 85450) - SNP

Links from Gene

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Select item 14913609451.

rs1491360945 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TGG,TGGGG,TGGGGGG [Show Flanks]
Chromosome:: 10:104336494 (GRCh38)
10:106096253 (GRCh37)
Canonical SPDI:: NC_000010.11:104336494::TG,NC_000010.11:104336494::TGG,NC_000010.11:104336494::TGGGG,NC_000010.11:104336494::TGGGGGG
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGG=0./0 (ALFA)
TG=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.104336494_104336495insTG, NC_000010.11:g.104336494_104336495insTGG, NC_000010.11:g.104336494_104336495insTGGGG, NC_000010.11:g.104336494_104336495insTGGGGGG, NC_000010.10:g.106096252_106096253insTG, NC_000010.10:g.106096252_106096253insTGG, NC_000010.10:g.106096252_106096253insTGGGG, NC_000010.10:g.106096252_106096253insTGGGGGG

Select item 14912462782.

rs1491246278 has merged into rs1186328386 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:104309340 (GRCh38)
10:106069098 (GRCh37)
Canonical SPDI:: NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104309330:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITPRIP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.2265/6298 (TOMMO)
HGVS:: NC_000010.11:g.104309340_104309348del, NC_000010.11:g.104309342_104309348del, NC_000010.11:g.104309343_104309348del, NC_000010.11:g.104309344_104309348del, NC_000010.11:g.104309345_104309348del, NC_000010.11:g.104309346_104309348del, NC_000010.11:g.104309347_104309348del, NC_000010.11:g.104309348del, NC_000010.11:g.104309348dup, NC_000010.11:g.104309347_104309348dup, NC_000010.11:g.104309346_104309348dup, NC_000010.11:g.104309345_104309348dup, NC_000010.11:g.104309344_104309348dup, NC_000010.11:g.104309343_104309348dup, NC_000010.11:g.104309342_104309348dup, NC_000010.10:g.106069098_106069106del, NC_000010.10:g.106069100_106069106del, NC_000010.10:g.106069101_106069106del, NC_000010.10:g.106069102_106069106del, NC_000010.10:g.106069103_106069106del, NC_000010.10:g.106069104_106069106del, NC_000010.10:g.106069105_106069106del, NC_000010.10:g.106069106del, NC_000010.10:g.106069106dup, NC_000010.10:g.106069105_106069106dup, NC_000010.10:g.106069104_106069106dup, NC_000010.10:g.106069103_106069106dup, NC_000010.10:g.106069102_106069106dup, NC_000010.10:g.106069101_106069106dup, NC_000010.10:g.106069100_106069106dup

Select item 14912224843.

rs1491222484 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATG,G [Show Flanks]
Chromosome:: 10:104309331 (GRCh38)
10:106069090 (GRCh37)
Canonical SPDI:: NC_000010.11:104309331::A,NC_000010.11:104309331::ATA,NC_000010.11:104309331::ATATA,NC_000010.11:104309331::ATATATA,NC_000010.11:104309331::ATATATATA,NC_000010.11:104309331::ATATATATATA,NC_000010.11:104309331::ATATATATATATA,NC_000010.11:104309331::ATATATATATATATA,NC_000010.11:104309331::ATATATATATATATATA,NC_000010.11:104309331::ATATATATATATATATATA,NC_000010.11:104309331::ATATATATATATATATATATA,NC_000010.11:104309331::ATATATATATATATATATATATA,NC_000010.11:104309331::ATATATATATATATATATATATATA,NC_000010.11:104309331::ATATATATATATATATATATATATATA,NC_000010.11:104309331::ATATATATATATATG,NC_000010.11:104309331::G
Gene:: ITPRIP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.104309331_104309332insA, NC_000010.11:g.104309331_104309332insATA, NC_000010.11:g.104309331_104309332insATATA, NC_000010.11:g.104309331_104309332insATATATA, NC_000010.11:g.104309331_104309332insATATATATA, NC_000010.11:g.104309331_104309332insATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATATATATATATATA, NC_000010.11:g.104309331_104309332insATATATATATATATG, NC_000010.11:g.104309331_104309332insG, NC_000010.10:g.106069089_106069090insA, NC_000010.10:g.106069089_106069090insATA, NC_000010.10:g.106069089_106069090insATATA, NC_000010.10:g.106069089_106069090insATATATA, NC_000010.10:g.106069089_106069090insATATATATA, NC_000010.10:g.106069089_106069090insATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATATATATATATATA, NC_000010.10:g.106069089_106069090insATATATATATATATG, NC_000010.10:g.106069089_106069090insG

Select item 14911788794.

rs1491178879 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:104336494 (GRCh38)
10:106096252 (GRCh37)
Canonical SPDI:: NC_000010.11:104336493:TG:
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00028/28 (GnomAD)
HGVS:: NC_000010.11:g.104336494_104336495del, NC_000010.10:g.106096252_106096253del

Select item 14911343575.

rs1491134357 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:104336495 (GRCh38)
10:106096254 (GRCh37)
Canonical SPDI:: NC_000010.11:104336495::T
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.104336495_104336496insT, NC_000010.10:g.106096253_106096254insT

Select item 14910336026.

rs1491033602 has merged into rs55637963 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 10:104335944 (GRCh38)
10:106095702 (GRCh37)
Canonical SPDI:: NC_000010.11:104335932:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:104335932:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:104335932:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:104335932:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:104335932:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.26829/1034 (ALSPAC)
A=0.2802/1039 (TWINSUK)
A=0.28305/167 (NorthernSweden)
A=0.3/12 (GENOME_DK)
HGVS:: NC_000010.11:g.104335944_104335945del, NC_000010.11:g.104335945del, NC_000010.11:g.104335945dup, NC_000010.11:g.104335944_104335945dup, NC_000010.11:g.104335943_104335945dup, NC_000010.10:g.106095702_106095703del, NC_000010.10:g.106095703del, NC_000010.10:g.106095703dup, NC_000010.10:g.106095702_106095703dup, NC_000010.10:g.106095701_106095703dup

Select item 14904751857.

rs1490475185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:104318057 (GRCh38)
10:106077815 (GRCh37)
Canonical SPDI:: NC_000010.11:104318056:G:C
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104318057G>C, NC_000010.10:g.106077815G>C

Select item 14904573458.

rs1490457345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104336084 (GRCh38)
10:106095842 (GRCh37)
Canonical SPDI:: NC_000010.11:104336083:A:G
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.104336084A>G, NC_000010.10:g.106095842A>G

Select item 14901627949.

rs1490162794 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>C
Chromosome:: no mapping
Canonical SPDI:

Select item 149008257210.

rs1490082572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:104326319 (GRCh38)
10:106086077 (GRCh37)
Canonical SPDI:: NC_000010.11:104326318:G:C
Gene:: ITPRIP (Varview), ITPRIP-AS1 (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_000010.11:g.104326319G>C, NC_000010.10:g.106086077G>C

Select item 148999726811.

rs1489997268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:104314609 (GRCh38)
10:106074367 (GRCh37)
Canonical SPDI:: NC_000010.11:104314608:G:A
Gene:: ITPRIP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000010.11:g.104314609G>A, NC_000010.10:g.106074367G>A, NM_033397.4:c.1443C>T, NM_033397.3:c.1443C>T, XM_005270257.3:c.1458C>T, XM_005270257.2:c.1458C>T, XM_005270257.1:c.1458C>T, NM_001272013.2:c.1443C>T, NM_001272013.1:c.1443C>T, NM_001272012.2:c.1443C>T, NM_001272012.1:c.1443C>T

Select item 148940812512.

rs1489408125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104310128 (GRCh38)
10:106069886 (GRCh37)
Canonical SPDI:: NC_000010.11:104310127:A:G
Gene:: ITPRIP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.001092/2 (Korea1K)
HGVS:: NC_000010.11:g.104310128A>G, NC_000010.10:g.106069886A>G, NM_033397.4:c.*4280T>C, NM_033397.3:c.*4280T>C, XM_005270257.3:c.*4280T>C, XM_005270257.2:c.*4280T>C, NM_001272013.2:c.*4280T>C, NM_001272013.1:c.*4280T>C, NM_001272012.2:c.*4280T>C, NM_001272012.1:c.*4280T>C

Select item 148930459613.

rs1489304596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:104317038 (GRCh38)
10:106076796 (GRCh37)
Canonical SPDI:: NC_000010.11:104317037:T:A
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104317038T>A, NC_000010.10:g.106076796T>A

Select item 148912722414.

rs1489127224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:104329442 (GRCh38)
10:106089200 (GRCh37)
Canonical SPDI:: NC_000010.11:104329441:G:C
Gene:: ITPRIP (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.104329442G>C, NC_000010.10:g.106089200G>C

Select item 148912375615.

rs1489123756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:104329813 (GRCh38)
10:106089571 (GRCh37)
Canonical SPDI:: NC_000010.11:104329812:G:A
Gene:: ITPRIP (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.104329813G>A, NC_000010.10:g.106089571G>A

Select item 148899330716.

rs1488993307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:104339556 (GRCh38)
10:106099314 (GRCh37)
Canonical SPDI:: NC_000010.11:104339555:T:C
Gene:: ITPRIP (Varview), CFAP58 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_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_000010.11:g.104339556T>C, NC_000010.10:g.106099314T>C, NG_056298.2:g.49T>C

Select item 148895544717.

rs1488955447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104316902 (GRCh38)
10:106076660 (GRCh37)
Canonical SPDI:: NC_000010.11:104316901:A:G
Gene:: ITPRIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104316902A>G, NC_000010.10:g.106076660A>G

Select item 148893072818.

rs1488930728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:104328928 (GRCh38)
10:106088686 (GRCh37)
Canonical SPDI:: NC_000010.11:104328927:T:C
Gene:: ITPRIP (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.104328928T>C, NC_000010.10:g.106088686T>C, NM_001272012.2:c.-77A>G, NM_001272012.1:c.-77A>G

Select item 148890492419.

rs1488904924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:104315835 (GRCh38)
10:106075593 (GRCh37)
Canonical SPDI:: NC_000010.11:104315834:C:G
Gene:: ITPRIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.104315835C>G, NC_000010.10:g.106075593C>G, NM_033397.4:c.217G>C, NM_033397.3:c.217G>C, XM_005270257.3:c.232G>C, XM_005270257.2:c.232G>C, XM_005270257.1:c.232G>C, NM_001272013.2:c.217G>C, NM_001272013.1:c.217G>C, NM_001272012.2:c.217G>C, NM_001272012.1:c.217G>C, NP_203755.1:p.Ala73Pro, XP_005270314.1:p.Ala78Pro, NP_001258942.1:p.Ala73Pro, NP_001258941.1:p.Ala73Pro

Select item 148861415920.

rs1488614159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:104315445 (GRCh38)
10:106075203 (GRCh37)
Canonical SPDI:: NC_000010.11:104315444:C:G,NC_000010.11:104315444:C:T
Gene:: ITPRIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.104315445C>G, NC_000010.11:g.104315445C>T, NC_000010.10:g.106075203C>G, NC_000010.10:g.106075203C>T, NM_033397.4:c.607G>C, NM_033397.4:c.607G>A, NM_033397.3:c.607G>C, NM_033397.3:c.607G>A, XM_005270257.3:c.622G>C, XM_005270257.3:c.622G>A, XM_005270257.2:c.622G>C, XM_005270257.2:c.622G>A, XM_005270257.1:c.622G>C, XM_005270257.1:c.622G>A, NM_001272013.2:c.607G>C, NM_001272013.2:c.607G>A, NM_001272013.1:c.607G>C, NM_001272013.1:c.607G>A, NM_001272012.2:c.607G>C, NM_001272012.2:c.607G>A, NM_001272012.1:c.607G>C, NM_001272012.1:c.607G>A, NP_203755.1:p.Asp203His, NP_203755.1:p.Asp203Asn, XP_005270314.1:p.Asp208His, XP_005270314.1:p.Asp208Asn, NP_001258942.1:p.Asp203His, NP_001258942.1:p.Asp203Asn, NP_001258941.1:p.Asp203His, NP_001258941.1:p.Asp203Asn

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