SNP Links for Protein (Select 262050538) - SNP

Links from Protein

Items: 1 to 20 of 933

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Select item 14888542451.

rs1488854245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52817042 (GRCh38)
3:52851058 (GRCh37)
Canonical SPDI:: NC_000003.12:52817041:G:T
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.52817042G>T, NC_000003.11:g.52851058G>T, NG_016006.2:g.18660C>A, NM_002218.5:c.2313C>A, NM_002218.4:c.2313C>A, NM_001166449.2:c.2223C>A, NM_001166449.1:c.2223C>A

Select item 14874790022.

rs1487479002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52830569 (GRCh38)
3:52864585 (GRCh37)
Canonical SPDI:: NC_000003.12:52830568:G:T
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52830569G>T, NC_000003.11:g.52864585G>T, NG_016006.2:g.5133C>A, NM_002218.5:c.74C>A, NM_002218.4:c.74C>A, NM_001166449.2:c.74C>A, NM_001166449.1:c.74C>A, NP_002209.2:p.Thr25Asn, NP_001159921.1:p.Thr25Asn

Select item 14873246543.

rs1487324654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:52823912 (GRCh38)
3:52857928 (GRCh37)
Canonical SPDI:: NC_000003.12:52823911:T:G
Gene:: ITIH4 (Varview), ITIH4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52823912T>G, NC_000003.11:g.52857928T>G, NG_016006.2:g.11790A>C, NM_002218.5:c.1264A>C, NM_002218.4:c.1264A>C, NM_001166449.2:c.1264A>C, NM_001166449.1:c.1264A>C, NP_002209.2:p.Ser422Arg, NP_001159921.1:p.Ser422Arg

Select item 14869983394.

rs1486998339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52814237 (GRCh38)
3:52848253 (GRCh37)
Canonical SPDI:: NC_000003.12:52814236:G:A
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52814237G>A, NC_000003.11:g.52848253G>A, NG_016006.2:g.21465C>T, NM_002218.5:c.2598C>T, NM_002218.4:c.2598C>T, NM_001166449.2:c.2508C>T, NM_001166449.1:c.2508C>T

Select item 14859552915.

rs1485955291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52814243 (GRCh38)
3:52848259 (GRCh37)
Canonical SPDI:: NC_000003.12:52814242:A:G
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.52814243A>G, NC_000003.11:g.52848259A>G, NG_016006.2:g.21459T>C, NM_002218.5:c.2592T>C, NM_002218.4:c.2592T>C, NM_001166449.2:c.2502T>C, NM_001166449.1:c.2502T>C

Select item 14846710396.

rs1484671039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52824273 (GRCh38)
3:52858289 (GRCh37)
Canonical SPDI:: NC_000003.12:52824272:A:G
Gene:: ITIH4 (Varview), ITIH4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52824273A>G, NC_000003.11:g.52858289A>G, NG_016006.2:g.11429T>C, NM_002218.5:c.1088T>C, NM_002218.4:c.1088T>C, NM_001166449.2:c.1088T>C, NM_001166449.1:c.1088T>C, NR_046615.1:n.221A>G, NP_002209.2:p.Leu363Pro, NP_001159921.1:p.Leu363Pro

Select item 14834405407.

rs1483440540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:52824955 (GRCh38)
3:52858971 (GRCh37)
Canonical SPDI:: NC_000003.12:52824954:C:A,NC_000003.12:52824954:C:T
Gene:: ITIH4 (Varview), ITIH4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52824955C>A, NC_000003.12:g.52824955C>T, NC_000003.11:g.52858971C>A, NC_000003.11:g.52858971C>T, NG_016006.2:g.10747G>T, NG_016006.2:g.10747G>A, NM_002218.5:c.763G>T, NM_002218.5:c.763G>A, NM_002218.4:c.763G>T, NM_002218.4:c.763G>A, NM_001166449.2:c.763G>T, NM_001166449.2:c.763G>A, NM_001166449.1:c.763G>T, NM_001166449.1:c.763G>A, NP_002209.2:p.Glu255Ter, NP_002209.2:p.Glu255Lys, NP_001159921.1:p.Glu255Ter, NP_001159921.1:p.Glu255Lys

Select item 14833725758.

rs1483372575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52818086 (GRCh38)
3:52852102 (GRCh37)
Canonical SPDI:: NC_000003.12:52818085:C:T
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52818086C>T, NC_000003.11:g.52852102C>T, NG_016006.2:g.17616G>A, NM_002218.5:c.2262G>A, NM_002218.4:c.2262G>A, NM_001166449.2:c.2172G>A, NM_001166449.1:c.2172G>A

Select item 14829069619.

rs1482906961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:52821010 (GRCh38)
3:52855026 (GRCh37)
Canonical SPDI:: NC_000003.12:52821009:G:A,NC_000003.12:52821009:G:C
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.52821010G>A, NC_000003.12:g.52821010G>C, NC_000003.11:g.52855026G>A, NC_000003.11:g.52855026G>C, NG_016006.2:g.14692C>T, NG_016006.2:g.14692C>G, NM_002218.5:c.1660C>T, NM_002218.5:c.1660C>G, NM_002218.4:c.1660C>T, NM_002218.4:c.1660C>G, NM_001166449.2:c.1660C>T, NM_001166449.2:c.1660C>G, NM_001166449.1:c.1660C>T, NM_001166449.1:c.1660C>G, NP_002209.2:p.Gln554Ter, NP_002209.2:p.Gln554Glu, NP_001159921.1:p.Gln554Ter, NP_001159921.1:p.Gln554Glu

Select item 148223589010.

rs1482235890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52814349 (GRCh38)
3:52848365 (GRCh37)
Canonical SPDI:: NC_000003.12:52814348:A:G
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.52814349A>G, NC_000003.11:g.52848365A>G, NG_016006.2:g.21353T>C, NM_002218.5:c.2486T>C, NM_002218.4:c.2486T>C, NM_001166449.2:c.2396T>C, NM_001166449.1:c.2396T>C, NP_002209.2:p.Met829Thr, NP_001159921.1:p.Met799Thr

Select item 148213211811.

rs1482132118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52813462 (GRCh38)
3:52847478 (GRCh37)
Canonical SPDI:: NC_000003.12:52813461:G:A
Gene:: ITIH4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.52813462G>A, NC_000003.11:g.52847478G>A, NG_016006.2:g.22240C>T, NM_002218.5:c.2752C>T, NM_002218.4:c.2752C>T, NM_001166449.2:c.2662C>T, NM_001166449.1:c.2662C>T, NP_002209.2:p.Pro918Ser, NP_001159921.1:p.Pro888Ser

Select item 147747089712.

rs1477470897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52827152 (GRCh38)
3:52861168 (GRCh37)
Canonical SPDI:: NC_000003.12:52827151:A:G
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52827152A>G, NC_000003.11:g.52861168A>G, NG_016006.2:g.8550T>C, NM_002218.5:c.297T>C, NM_002218.4:c.297T>C, NM_001166449.2:c.297T>C, NM_001166449.1:c.297T>C

Select item 147736664813.

rs1477366648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52829224 (GRCh38)
3:52863240 (GRCh37)
Canonical SPDI:: NC_000003.12:52829223:G:A
Gene:: ITIH4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000003.12:g.52829224G>A, NC_000003.11:g.52863240G>A, NG_016006.2:g.6478C>T, NM_002218.5:c.146C>T, NM_002218.4:c.146C>T, NM_001166449.2:c.146C>T, NM_001166449.1:c.146C>T, NP_002209.2:p.Ala49Val, NP_001159921.1:p.Ala49Val

Select item 147702962614.

rs1477029626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:52826922 (GRCh38)
3:52860938 (GRCh37)
Canonical SPDI:: NC_000003.12:52826921:C:A
Gene:: ITIH4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.52826922C>A, NC_000003.11:g.52860938C>A, NG_016006.2:g.8780G>T, NM_002218.5:c.388G>T, NM_002218.4:c.388G>T, NM_001166449.2:c.388G>T, NM_001166449.1:c.388G>T, NP_002209.2:p.Val130Leu, NP_001159921.1:p.Val130Leu

Select item 147644537415.

rs1476445374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52824933 (GRCh38)
3:52858949 (GRCh37)
Canonical SPDI:: NC_000003.12:52824932:T:C
Gene:: ITIH4 (Varview), ITIH4-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52824933T>C, NC_000003.11:g.52858949T>C, NG_016006.2:g.10769A>G, NM_002218.5:c.785A>G, NM_002218.4:c.785A>G, NM_001166449.2:c.785A>G, NM_001166449.1:c.785A>G, NP_002209.2:p.Tyr262Cys, NP_001159921.1:p.Tyr262Cys

Select item 147202965016.

rs1472029650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52823592 (GRCh38)
3:52857608 (GRCh37)
Canonical SPDI:: NC_000003.12:52823591:C:T
Gene:: ITIH4 (Varview), ITIH4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_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_000003.12:g.52823592C>T, NC_000003.11:g.52857608C>T, NG_016006.2:g.12110G>A, NM_002218.5:c.1503G>A, NM_002218.4:c.1503G>A, NM_001166449.2:c.1503G>A, NM_001166449.1:c.1503G>A

Select item 147058727317.

rs1470587273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52813426 (GRCh38)
3:52847442 (GRCh37)
Canonical SPDI:: NC_000003.12:52813425:G:A
Gene:: ITIH4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52813426G>A, NC_000003.11:g.52847442G>A, NG_016006.2:g.22276C>T, NM_002218.5:c.2788C>T, NM_002218.4:c.2788C>T, NM_001166449.2:c.2698C>T, NM_001166449.1:c.2698C>T

Select item 146991432618.

rs1469914326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52824283 (GRCh38)
3:52858299 (GRCh37)
Canonical SPDI:: NC_000003.12:52824282:C:T
Gene:: ITIH4 (Varview), ITIH4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52824283C>T, NC_000003.11:g.52858299C>T, NG_016006.2:g.11419G>A, NM_002218.5:c.1078G>A, NM_002218.4:c.1078G>A, NM_001166449.2:c.1078G>A, NM_001166449.1:c.1078G>A, NR_046615.1:n.231C>T, NP_002209.2:p.Val360Met, NP_001159921.1:p.Val360Met

Select item 146832453819.

rs1468324538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52819428 (GRCh38)
3:52853444 (GRCh37)
Canonical SPDI:: NC_000003.12:52819427:T:C
Gene:: ITIH4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52819428T>C, NC_000003.11:g.52853444T>C, NG_016006.2:g.16274A>G, NM_002218.5:c.2042A>G, NM_002218.4:c.2042A>G, NM_001166449.2:c.1952A>G, NM_001166449.1:c.1952A>G, NP_002209.2:p.His681Arg, NP_001159921.1:p.His651Arg

Select item 146768054620.

rs1467680546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:52818498 (GRCh38)
3:52852514 (GRCh37)
Canonical SPDI:: NC_000003.12:52818497:G:A,NC_000003.12:52818497:G:C
Gene:: ITIH4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52818498G>A, NC_000003.12:g.52818498G>C, NC_000003.11:g.52852514G>A, NC_000003.11:g.52852514G>C, NG_016006.2:g.17204C>T, NG_016006.2:g.17204C>G, NM_002218.5:c.2116C>T, NM_002218.5:c.2116C>G, NM_002218.4:c.2116C>T, NM_002218.4:c.2116C>G, NM_001166449.2:c.2026C>T, NM_001166449.2:c.2026C>G, NM_001166449.1:c.2026C>T, NM_001166449.1:c.2026C>G, NP_002209.2:p.Pro706Ser, NP_002209.2:p.Pro706Ala, NP_001159921.1:p.Pro676Ser, NP_001159921.1:p.Pro676Ala

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