SNP Links for Protein (Select 269954692) - SNP

Links from Protein

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Select item 14890936691.

rs1489093669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4665210 (GRCh38)
3:4706894 (GRCh37)
Canonical SPDI:: NC_000003.12:4665209:G:A
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4665210G>A, NC_000003.11:g.4706894G>A, NG_016144.1:g.176863G>A, NM_002222.7:c.1582G>A, NM_002222.6:c.1582G>A, NM_002222.5:c.1582G>A, NM_001099952.4:c.1627G>A, NM_001099952.3:c.1627G>A, NM_001099952.2:c.1627G>A, NM_001168272.2:c.1582G>A, NM_001168272.1:c.1582G>A, NM_001378452.1:c.1627G>A, NP_002213.5:p.Asp528Asn, NP_001093422.2:p.Asp543Asn, NP_001161744.1:p.Asp528Asn, NP_001365381.1:p.Asp543Asn

Select item 14890630122.

rs1489063012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4685101 (GRCh38)
3:4726785 (GRCh37)
Canonical SPDI:: NC_000003.12:4685100:A:G
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4685101A>G, NC_000003.11:g.4726785A>G, NG_016144.1:g.196754A>G, NM_002222.7:c.3525A>G, NM_002222.6:c.3525A>G, NM_002222.5:c.3525A>G, NM_001099952.4:c.3570A>G, NM_001099952.3:c.3570A>G, NM_001099952.2:c.3570A>G, NM_001168272.2:c.3552A>G, NM_001168272.1:c.3552A>G, NM_001378452.1:c.3597A>G

Select item 14871802893.

rs1487180289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4683465 (GRCh38)
3:4725149 (GRCh37)
Canonical SPDI:: NC_000003.12:4683464:G:A
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.4683465G>A, NC_000003.11:g.4725149G>A, NG_016144.1:g.195118G>A, NM_002222.7:c.3169G>A, NM_002222.6:c.3169G>A, NM_002222.5:c.3169G>A, NM_001099952.4:c.3214G>A, NM_001099952.3:c.3214G>A, NM_001099952.2:c.3214G>A, NM_001168272.2:c.3196G>A, NM_001168272.1:c.3196G>A, NM_001378452.1:c.3241G>A, NP_002213.5:p.Asp1057Asn, NP_001093422.2:p.Asp1072Asn, NP_001161744.1:p.Asp1066Asn, NP_001365381.1:p.Asp1081Asn

Select item 14862284194.

rs1486228419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:4706204 (GRCh38)
3:4747888 (GRCh37)
Canonical SPDI:: NC_000003.12:4706203:C:A
Gene:: ITPR1 (Varview), LOC124906210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4706204C>A, NC_000003.11:g.4747888C>A, NG_016144.1:g.217857C>A, NM_002222.7:c.4623C>A, NM_002222.6:c.4623C>A, NM_002222.5:c.4623C>A, NM_001099952.4:c.4668C>A, NM_001099952.3:c.4668C>A, NM_001099952.2:c.4668C>A, NM_001168272.2:c.4650C>A, NM_001168272.1:c.4650C>A, NM_001378452.1:c.4695C>A, NP_002213.5:p.Asp1541Glu, NP_001093422.2:p.Asp1556Glu, NP_001161744.1:p.Asp1550Glu, NP_001365381.1:p.Asp1565Glu

Select item 14856231595.

rs1485623159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:4675185 (GRCh38)
3:4716869 (GRCh37)
Canonical SPDI:: NC_000003.12:4675184:C:G
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.4675185C>G, NC_000003.11:g.4716869C>G, NG_016144.1:g.186838C>G, NM_002222.7:c.2671C>G, NM_002222.6:c.2671C>G, NM_002222.5:c.2671C>G, NM_001099952.4:c.2716C>G, NM_001099952.3:c.2716C>G, NM_001099952.2:c.2716C>G, NM_001168272.2:c.2671C>G, NM_001168272.1:c.2671C>G, NM_001378452.1:c.2716C>G, NP_002213.5:p.Pro891Ala, NP_001093422.2:p.Pro906Ala, NP_001161744.1:p.Pro891Ala, NP_001365381.1:p.Pro906Ala

Select item 14853744576.

rs1485374457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:4768704 (GRCh38)
3:4810388 (GRCh37)
Canonical SPDI:: NC_000003.12:4768703:C:T
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.4768704C>T, NC_000003.11:g.4810388C>T, NG_016144.1:g.280357C>T, NM_002222.7:c.5730C>T, NM_002222.6:c.5730C>T, NM_002222.5:c.5730C>T, NM_001099952.4:c.5775C>T, NM_001099952.3:c.5775C>T, NM_001099952.2:c.5775C>T, NM_001168272.2:c.5874C>T, NM_001168272.1:c.5874C>T, NM_001378452.1:c.5919C>T

Select item 14852254667.

rs1485225466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:4787947 (GRCh38)
3:4829631 (GRCh37)
Canonical SPDI:: NC_000003.12:4787946:A:T
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.4787947A>T, NC_000003.11:g.4829631A>T, NG_016144.1:g.299600A>T, NM_002222.7:c.6427A>T, NM_002222.6:c.6427A>T, NM_002222.5:c.6427A>T, NM_001099952.4:c.6472A>T, NM_001099952.3:c.6472A>T, NM_001099952.2:c.6472A>T, NM_001168272.2:c.6571A>T, NM_001168272.1:c.6571A>T, NM_001378452.1:c.6616A>T, NP_002213.5:p.Ile2143Phe, NP_001093422.2:p.Ile2158Phe, NP_001161744.1:p.Ile2191Phe, NP_001365381.1:p.Ile2206Phe

Select item 14849720728.

rs1484972072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:4795087 (GRCh38)
3:4836771 (GRCh37)
Canonical SPDI:: NC_000003.12:4795086:T:C
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.4795087T>C, NC_000003.11:g.4836771T>C, NG_016144.1:g.306740T>C, NM_002222.7:c.6642T>C, NM_002222.6:c.6642T>C, NM_002222.5:c.6642T>C, NM_001099952.4:c.6687T>C, NM_001099952.3:c.6687T>C, NM_001099952.2:c.6687T>C, NM_001168272.2:c.6786T>C, NM_001168272.1:c.6786T>C, NM_001378452.1:c.6831T>C

Select item 14847626629.

rs1484762662 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:4667539 (GRCh38)
3:4709223 (GRCh37)
Canonical SPDI:: NC_000003.12:4667538:AG:
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.4667539_4667540del, NC_000003.11:g.4709223_4709224del, NG_016144.1:g.179192_179193del, NM_002222.7:c.1831_1832del, NM_002222.6:c.1831_1832del, NM_002222.5:c.1831_1832del, NM_001099952.4:c.1876_1877del, NM_001099952.3:c.1876_1877del, NM_001099952.2:c.1876_1877del, NM_001168272.2:c.1831_1832del, NM_001168272.1:c.1831_1832del, NM_001378452.1:c.1876_1877del, NP_002213.5:p.Arg611fs, NP_001093422.2:p.Arg626fs, NP_001161744.1:p.Arg611fs, NP_001365381.1:p.Arg626fs

Select item 148308000710.

rs1483080007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:4766566 (GRCh38)
3:4808250 (GRCh37)
Canonical SPDI:: NC_000003.12:4766565:T:G
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4766566T>G, NC_000003.11:g.4808250T>G, NG_016144.1:g.278219T>G, NM_002222.7:c.5392T>G, NM_002222.6:c.5392T>G, NM_002222.5:c.5392T>G, NM_001099952.4:c.5437T>G, NM_001099952.3:c.5437T>G, NM_001099952.2:c.5437T>G, NM_001168272.2:c.5536T>G, NM_001168272.1:c.5536T>G, NM_001378452.1:c.5581T>G, NP_002213.5:p.Ser1798Ala, NP_001093422.2:p.Ser1813Ala, NP_001161744.1:p.Ser1846Ala, NP_001365381.1:p.Ser1861Ala

Select item 148296991511.

rs1482969915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4697226 (GRCh38)
3:4738910 (GRCh37)
Canonical SPDI:: NC_000003.12:4697225:A:G
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4697226A>G, NC_000003.11:g.4738910A>G, NG_016144.1:g.208879A>G, NM_002222.7:c.4289A>G, NM_002222.6:c.4289A>G, NM_002222.5:c.4289A>G, NM_001099952.4:c.4334A>G, NM_001099952.3:c.4334A>G, NM_001099952.2:c.4334A>G, NM_001168272.2:c.4316A>G, NM_001168272.1:c.4316A>G, NM_001378452.1:c.4361A>G, NP_002213.5:p.Asn1430Ser, NP_001093422.2:p.Asn1445Ser, NP_001161744.1:p.Asn1439Ser, NP_001365381.1:p.Asn1454Ser

Select item 148278525712.

rs1482785257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4733214 (GRCh38)
3:4774898 (GRCh37)
Canonical SPDI:: NC_000003.12:4733213:G:A
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4733214G>A, NC_000003.11:g.4774898G>A, NG_016144.1:g.244867G>A, NM_002222.7:c.5158G>A, NM_002222.6:c.5158G>A, NM_002222.5:c.5158G>A, NM_001099952.4:c.5203G>A, NM_001099952.3:c.5203G>A, NM_001099952.2:c.5203G>A, NM_001168272.2:c.5302G>A, NM_001168272.1:c.5302G>A, NM_001378452.1:c.5347G>A, NP_002213.5:p.Gly1720Arg, NP_001093422.2:p.Gly1735Arg, NP_001161744.1:p.Gly1768Arg, NP_001365381.1:p.Gly1783Arg

Select item 148248013713.

rs1482480137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4645716 (GRCh38)
3:4687400 (GRCh37)
Canonical SPDI:: NC_000003.12:4645715:G:A
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.4645716G>A, NC_000003.11:g.4687400G>A, NG_016144.1:g.157369G>A, NM_002222.7:c.843G>A, NM_002222.6:c.843G>A, NM_002222.5:c.843G>A, NM_001099952.4:c.843G>A, NM_001099952.3:c.843G>A, NM_001099952.2:c.843G>A, NM_001168272.2:c.843G>A, NM_001168272.1:c.843G>A, NM_001378452.1:c.843G>A

Select item 148116091014.

rs1481160910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:4706219 (GRCh38)
3:4747903 (GRCh37)
Canonical SPDI:: NC_000003.12:4706218:C:A,NC_000003.12:4706218:C:T
Gene:: ITPR1 (Varview), LOC124906210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000003.12:g.4706219C>A, NC_000003.12:g.4706219C>T, NC_000003.11:g.4747903C>A, NC_000003.11:g.4747903C>T, NG_016144.1:g.217872C>A, NG_016144.1:g.217872C>T, NM_002222.7:c.4638C>A, NM_002222.7:c.4638C>T, NM_002222.6:c.4638C>A, NM_002222.6:c.4638C>T, NM_002222.5:c.4638C>A, NM_002222.5:c.4638C>T, NM_001099952.4:c.4683C>A, NM_001099952.4:c.4683C>T, NM_001099952.3:c.4683C>A, NM_001099952.3:c.4683C>T, NM_001099952.2:c.4683C>A, NM_001099952.2:c.4683C>T, NM_001168272.2:c.4665C>A, NM_001168272.2:c.4665C>T, NM_001168272.1:c.4665C>A, NM_001168272.1:c.4665C>T, NM_001378452.1:c.4710C>A, NM_001378452.1:c.4710C>T, NP_002213.5:p.Asn1546Lys, NP_001093422.2:p.Asn1561Lys, NP_001161744.1:p.Asn1555Lys, NP_001365381.1:p.Asn1570Lys

Select item 147996076215.

rs1479960762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4768531 (GRCh38)
3:4810215 (GRCh37)
Canonical SPDI:: NC_000003.12:4768530:A:G
Gene:: ITPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.4768531A>G, NC_000003.11:g.4810215A>G, NG_016144.1:g.280184A>G, NM_002222.7:c.5557A>G, NM_002222.6:c.5557A>G, NM_002222.5:c.5557A>G, NM_001099952.4:c.5602A>G, NM_001099952.3:c.5602A>G, NM_001099952.2:c.5602A>G, NM_001168272.2:c.5701A>G, NM_001168272.1:c.5701A>G, NM_001378452.1:c.5746A>G, NP_002213.5:p.Ile1853Val, NP_001093422.2:p.Ile1868Val, NP_001161744.1:p.Ile1901Val, NP_001365381.1:p.Ile1916Val

Select item 147892257216.

rs1478922572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4662178 (GRCh38)
3:4703862 (GRCh37)
Canonical SPDI:: NC_000003.12:4662177:A:G
Gene:: ITPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4662178A>G, NC_000003.11:g.4703862A>G, NG_016144.1:g.173831A>G, NM_002222.7:c.1303A>G, NM_002222.6:c.1303A>G, NM_002222.5:c.1303A>G, NM_001099952.4:c.1348A>G, NM_001099952.3:c.1348A>G, NM_001099952.2:c.1348A>G, NM_001168272.2:c.1303A>G, NM_001168272.1:c.1303A>G, NM_001378452.1:c.1348A>G, NP_002213.5:p.Ser435Gly, NP_001093422.2:p.Ser450Gly, NP_001161744.1:p.Ser435Gly, NP_001365381.1:p.Ser450Gly

Select item 147863654417.

rs1478636544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4806167 (GRCh38)
3:4847851 (GRCh37)
Canonical SPDI:: NC_000003.12:4806166:A:G
Gene:: ITPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.4806167A>G, NC_000003.11:g.4847851A>G, NG_016144.1:g.317820A>G, NM_002222.7:c.6983A>G, NM_002222.6:c.6983A>G, NM_002222.5:c.6983A>G, NM_001099952.4:c.7028A>G, NM_001099952.3:c.7028A>G, NM_001099952.2:c.7028A>G, NM_001168272.2:c.7127A>G, NM_001168272.1:c.7127A>G, NM_001378452.1:c.7172A>G, NP_002213.5:p.Tyr2328Cys, NP_001093422.2:p.Tyr2343Cys, NP_001161744.1:p.Tyr2376Cys, NP_001365381.1:p.Tyr2391Cys

Select item 147859175218.

rs1478591752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:4681365 (GRCh38)
3:4723049 (GRCh37)
Canonical SPDI:: NC_000003.12:4681364:T:C
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4681365T>C, NC_000003.11:g.4723049T>C, NG_016144.1:g.193018T>C, NM_002222.7:c.3036T>C, NM_002222.6:c.3036T>C, NM_002222.5:c.3036T>C, NM_001099952.4:c.3081T>C, NM_001099952.3:c.3081T>C, NM_001099952.2:c.3081T>C, NM_001168272.2:c.3063T>C, NM_001168272.1:c.3063T>C, NM_001378452.1:c.3108T>C

Select item 147807012019.

rs1478070120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:4516578 (GRCh38)
3:4558262 (GRCh37)
Canonical SPDI:: NC_000003.12:4516577:C:T
Gene:: ITPR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.4516578C>T, NC_000003.11:g.4558262C>T, NG_016144.1:g.28231C>T, NM_002222.7:c.87C>T, NM_002222.6:c.87C>T, NM_002222.5:c.87C>T, NM_001099952.4:c.87C>T, NM_001099952.3:c.87C>T, NM_001099952.2:c.87C>T, NM_001168272.2:c.87C>T, NM_001168272.1:c.87C>T, NM_001378452.1:c.87C>T

Select item 147794060720.

rs1477940607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4782733 (GRCh38)
3:4824417 (GRCh37)
Canonical SPDI:: NC_000003.12:4782732:G:A
Gene:: ITPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.4782733G>A, NC_000003.11:g.4824417G>A, NG_016144.1:g.294386G>A, NM_002222.7:c.6313G>A, NM_002222.6:c.6313G>A, NM_002222.5:c.6313G>A, NM_001099952.4:c.6358G>A, NM_001099952.3:c.6358G>A, NM_001099952.2:c.6358G>A, NM_001168272.2:c.6457G>A, NM_001168272.1:c.6457G>A, NM_001378452.1:c.6502G>A, NP_002213.5:p.Ala2105Thr, NP_001093422.2:p.Ala2120Thr, NP_001161744.1:p.Ala2153Thr, NP_001365381.1:p.Ala2168Thr

dbSNP

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