SNP Links for Protein (Select 156071450) - SNP

Links from Protein

Items: 1 to 20 of 984

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Select item 14908205551.

rs1490820555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:51821504 (GRCh38)
1:52287176 (GRCh37)
Canonical SPDI:: NC_000001.11:51821503:G:A
Gene:: NRDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.51821504G>A, NC_000001.10:g.52287176G>A, NG_029171.2:g.62434C>T, NM_002525.3:c.1415C>T, NM_002525.2:c.1415C>T, NM_001101662.2:c.1211C>T, NM_001101662.1:c.1211C>T, NM_001242361.2:c.1019C>T, NM_001242361.1:c.1019C>T, NP_002516.2:p.Pro472Leu, NP_001095132.1:p.Pro404Leu, NP_001229290.1:p.Pro340Leu

Select item 14901526122.

rs1490152612 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGTAC [Show Flanks]
Chromosome:: 1:51789390 (GRCh38)
1:52255063 (GRCh37)
Canonical SPDI:: NC_000001.11:51789390:GGGTAC:GGGTACGGGTAC
Gene:: NRDC (Varview), OSBPL9 (Varview)
Functional Consequence:: 500B_downstream_variant,inframe_insertion,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGTACGGGTAC=0./0 (ALFA)
GGGTAC=0.000004/1 (GnomAD_exomes)
GGGTAC=0.000004/1 (TOPMED)
GGGTAC=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.51789391_51789396dup, NC_000001.10:g.52255063_52255068dup, NG_029171.2:g.94542_94547dup, NM_002525.3:c.3500_3505dup, NM_002525.2:c.3500_3505dup, NM_001101662.2:c.3296_3301dup, NM_001101662.1:c.3296_3301dup, NM_001242361.2:c.3104_3109dup, NM_001242361.1:c.3104_3109dup, NP_002516.2:p.Pro1169_Ser1170insArgThr, NP_001095132.1:p.Pro1101_Ser1102insArgThr, NP_001229290.1:p.Pro1037_Ser1038insArgThr

Select item 14890326123.

rs1489032612 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:51837573 (GRCh38)
1:52303245 (GRCh37)
Canonical SPDI:: NC_000001.11:51837570:CACA:CA
Gene:: NRDC (Varview), MIR761 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.51837571CA[1], NC_000001.10:g.52303243CA[1], NG_029171.2:g.46364TG[1], NM_002525.3:c.679_680del, NM_002525.2:c.679_680del, NM_001242361.2:c.283_284del, NM_001242361.1:c.283_284del, NP_002516.2:p.Trp227fs, NP_001229290.1:p.Trp95fs

Select item 14881852514.

rs1488185251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:51809400 (GRCh38)
1:52275072 (GRCh37)
Canonical SPDI:: NC_000001.11:51809399:A:G
Gene:: NRDC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.51809400A>G, NC_000001.10:g.52275072A>G, NG_029171.2:g.74538T>C, NM_002525.3:c.2109T>C, NM_002525.2:c.2109T>C, NM_001101662.2:c.1905T>C, NM_001101662.1:c.1905T>C, NM_001242361.2:c.1713T>C, NM_001242361.1:c.1713T>C

Select item 14877505695.

rs1487750569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:51798387 (GRCh38)
1:52264059 (GRCh37)
Canonical SPDI:: NC_000001.11:51798386:T:C
Gene:: NRDC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.51798387T>C, NC_000001.10:g.52264059T>C, NG_029171.2:g.85551A>G, NM_002525.3:c.2670A>G, NM_002525.2:c.2670A>G, NM_001101662.2:c.2466A>G, NM_001101662.1:c.2466A>G, NM_001242361.2:c.2274A>G, NM_001242361.1:c.2274A>G

Select item 14867774736.

rs1486777473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:51806845 (GRCh38)
1:52272517 (GRCh37)
Canonical SPDI:: NC_000001.11:51806844:G:A
Gene:: NRDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.51806845G>A, NC_000001.10:g.52272517G>A, NG_029171.2:g.77093C>T, NM_002525.3:c.2263C>T, NM_002525.2:c.2263C>T, NM_001101662.2:c.2059C>T, NM_001101662.1:c.2059C>T, NM_001242361.2:c.1867C>T, NM_001242361.1:c.1867C>T, NP_002516.2:p.Pro755Ser, NP_001095132.1:p.Pro687Ser, NP_001229290.1:p.Pro623Ser

Select item 14865528697.

rs1486552869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:51840335 (GRCh38)
1:52306007 (GRCh37)
Canonical SPDI:: NC_000001.11:51840334:T:C
Gene:: NRDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.51840335T>C, NC_000001.10:g.52306007T>C, NG_029171.2:g.43603A>G, NM_002525.3:c.521A>G, NM_002525.2:c.521A>G, NM_001101662.2:c.521A>G, NM_001101662.1:c.521A>G, NM_001242361.2:c.125A>G, NM_001242361.1:c.125A>G, NP_002516.2:p.Asp174Gly, NP_001095132.1:p.Asp174Gly, NP_001229290.1:p.Asp42Gly

Select item 14865320218.

rs1486532021 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGT [Show Flanks]
Chromosome:: 1:51789251 (GRCh38)
1:52254924 (GRCh37)
Canonical SPDI:: NC_000001.11:51789251:TGGT:TGGTTGGT
Gene:: NRDC (Varview), OSBPL9 (Varview)
Functional Consequence:: frameshift_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TGGT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.51789252_51789255dup, NC_000001.10:g.52254924_52254927dup, NG_029171.2:g.94683_94686dup, NM_002525.3:c.3641_3644dup, NM_002525.2:c.3641_3644dup, NM_001101662.2:c.3437_3440dup, NM_001101662.1:c.3437_3440dup, NM_001242361.2:c.3245_3248dup, NM_001242361.1:c.3245_3248dup, NP_002516.2:p.His1215fs, NP_001095132.1:p.His1147fs, NP_001229290.1:p.His1083fs

Select item 14858258899.

rs1485825889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:51789616 (GRCh38)
1:52255288 (GRCh37)
Canonical SPDI:: NC_000001.11:51789615:G:C
Gene:: NRDC (Varview), OSBPL9 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.51789616G>C, NC_000001.10:g.52255288G>C, NG_029171.2:g.94322C>G, NM_002525.3:c.3414C>G, NM_002525.2:c.3414C>G, NM_001101662.2:c.3210C>G, NM_001101662.1:c.3210C>G, NM_001242361.2:c.3018C>G, NM_001242361.1:c.3018C>G, NP_002516.2:p.Asn1138Lys, NP_001095132.1:p.Asn1070Lys, NP_001229290.1:p.Asn1006Lys

Select item 148526583610.

rs1485265836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:51878611 (GRCh38)
1:52344283 (GRCh37)
Canonical SPDI:: NC_000001.11:51878610:A:G
Gene:: NRDC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.51878611A>G, NC_000001.10:g.52344283A>G, NG_029171.2:g.5327T>C, NM_002525.3:c.5T>C, NM_002525.2:c.5T>C, NM_001101662.2:c.5T>C, NM_001101662.1:c.5T>C, NP_002516.2:p.Leu2Pro, NP_001095132.1:p.Leu2Pro

Select item 148513340511.

rs1485133405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:51878577 (GRCh38)
1:52344249 (GRCh37)
Canonical SPDI:: NC_000001.11:51878576:G:A
Gene:: NRDC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.51878577G>A, NC_000001.10:g.52344249G>A, NG_029171.2:g.5361C>T, NM_002525.3:c.39C>T, NM_002525.2:c.39C>T, NM_001101662.2:c.39C>T, NM_001101662.1:c.39C>T

Select item 148505032812.

rs1485050328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:51840251 (GRCh38)
1:52305923 (GRCh37)
Canonical SPDI:: NC_000001.11:51840250:G:T
Gene:: NRDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.51840251G>T, NC_000001.10:g.52305923G>T, NG_029171.2:g.43687C>A, NM_002525.3:c.605C>A, NM_002525.2:c.605C>A, NM_001101662.2:c.605C>A, NM_001101662.1:c.605C>A, NM_001242361.2:c.209C>A, NM_001242361.1:c.209C>A, NP_002516.2:p.Ala202Asp, NP_001095132.1:p.Ala202Asp, NP_001229290.1:p.Ala70Asp

Select item 148493922813.

rs1484939228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:51878335 (GRCh38)
1:52344007 (GRCh37)
Canonical SPDI:: NC_000001.11:51878334:G:C
Gene:: NRDC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_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_000001.11:g.51878335G>C, NC_000001.10:g.52344007G>C, NG_029171.2:g.5603C>G, NM_002525.3:c.281C>G, NM_002525.2:c.281C>G, NM_001101662.2:c.281C>G, NM_001101662.1:c.281C>G, NP_002516.2:p.Ser94Cys, NP_001095132.1:p.Ser94Cys

Select item 148465546414.

rs1484655464 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCA>- [Show Flanks]
Chromosome:: 1:51840338 (GRCh38)
1:52306010 (GRCh37)
Canonical SPDI:: NC_000001.11:51840331:TCATCATCA:TCATCA
Gene:: NRDC (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCATCA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.51840332TCA[2], NC_000001.10:g.52306004TCA[2], NG_029171.2:g.43598TGA[2], NM_002525.3:c.516TGA[2], NM_002525.2:c.516TGA[2], NM_001101662.2:c.516TGA[2], NM_001101662.1:c.516TGA[2], NM_001242361.2:c.120TGA[2], NM_001242361.1:c.120TGA[2], NP_002516.2:p.Asp174del, NP_001095132.1:p.Asp174del, NP_001229290.1:p.Asp42del

Select item 148301790215.

rs1483017902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:51825296 (GRCh38)
1:52290968 (GRCh37)
Canonical SPDI:: NC_000001.11:51825295:A:T
Gene:: NRDC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.51825296A>T, NC_000001.10:g.52290968A>T, NG_029171.2:g.58642T>A, NM_002525.3:c.1231T>A, NM_002525.2:c.1231T>A, NM_001101662.2:c.1027T>A, NM_001101662.1:c.1027T>A, NM_001242361.2:c.835T>A, NM_001242361.1:c.835T>A, NP_002516.2:p.Phe411Ile, NP_001095132.1:p.Phe343Ile, NP_001229290.1:p.Phe279Ile

Select item 148263565016.

rs1482635650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:51840316 (GRCh38)
1:52305988 (GRCh37)
Canonical SPDI:: NC_000001.11:51840315:A:G
Gene:: NRDC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.51840316A>G, NC_000001.10:g.52305988A>G, NG_029171.2:g.43622T>C, NM_002525.3:c.540T>C, NM_002525.2:c.540T>C, NM_001101662.2:c.540T>C, NM_001101662.1:c.540T>C, NM_001242361.2:c.144T>C, NM_001242361.1:c.144T>C

Select item 148237648517.

rs1482376485 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:51825290 (GRCh38)
1:52290962 (GRCh37)
Canonical SPDI:: NC_000001.11:51825289:AAAAAAA:AAAAAA
Gene:: NRDC (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.51825296del, NC_000001.10:g.52290968del, NG_029171.2:g.58648del, NM_002525.3:c.1237del, NM_002525.2:c.1237del, NM_001101662.2:c.1033del, NM_001101662.1:c.1033del, NM_001242361.2:c.841del, NM_001242361.1:c.841del, NP_002516.2:p.Trp413fs, NP_001095132.1:p.Trp345fs, NP_001229290.1:p.Trp281fs

Select item 148124281118.

rs1481242811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:51825305 (GRCh38)
1:52290977 (GRCh37)
Canonical SPDI:: NC_000001.11:51825304:T:C
Gene:: NRDC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.51825305T>C, NC_000001.10:g.52290977T>C, NG_029171.2:g.58633A>G, NM_002525.3:c.1222A>G, NM_002525.2:c.1222A>G, NM_001101662.2:c.1018A>G, NM_001101662.1:c.1018A>G, NM_001242361.2:c.826A>G, NM_001242361.1:c.826A>G, NP_002516.2:p.Met408Val, NP_001095132.1:p.Met340Val, NP_001229290.1:p.Met276Val

Select item 148056910819.

rs1480569108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:51837523 (GRCh38)
1:52303195 (GRCh37)
Canonical SPDI:: NC_000001.11:51837522:G:T
Gene:: NRDC (Varview), MIR761 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.51837523G>T, NC_000001.10:g.52303195G>T, NG_029171.2:g.46415C>A, NM_002525.3:c.728C>A, NM_002525.2:c.728C>A, NM_001242361.2:c.332C>A, NM_001242361.1:c.332C>A, NP_002516.2:p.Thr243Lys, NP_001229290.1:p.Thr111Lys

Select item 148044894020.

rs1480448940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:51836141 (GRCh38)
1:52301813 (GRCh37)
Canonical SPDI:: NC_000001.11:51836140:A:T
Gene:: NRDC (Varview), MIR761 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.51836141A>T, NC_000001.10:g.52301813A>T, NG_029171.2:g.47797T>A, NM_002525.3:c.906T>A, NM_002525.2:c.906T>A, NM_001101662.2:c.702T>A, NM_001101662.1:c.702T>A, NM_001242361.2:c.510T>A, NM_001242361.1:c.510T>A, NP_002516.2:p.Phe302Leu, NP_001095132.1:p.Phe234Leu, NP_001229290.1:p.Phe170Leu

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