SNP Links for Protein (Select 20806097) - SNP

Links from Protein

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Select item 14886882501.

rs1488688250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:94339881 (GRCh38)
10:96099638 (GRCh37)
Canonical SPDI:: NC_000010.11:94339880:A:G
Gene:: NOC3L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.94339881A>G, NC_000010.10:g.96099638A>G, NM_022451.11:c.1820T>C, NM_022451.10:c.1820T>C, NM_022451.9:c.1820T>C, XR_002957007.2:n.1921T>C, XR_002957007.1:n.1941T>C, XR_007061982.1:n.1921T>C, NP_071896.8:p.Leu607Pro

Select item 14879015352.

rs1487901535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:94353056 (GRCh38)
10:96112813 (GRCh37)
Canonical SPDI:: NC_000010.11:94353055:A:G
Gene:: NOC3L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.94353056A>G, NC_000010.10:g.96112813A>G, NM_022451.11:c.698T>C, NM_022451.10:c.698T>C, NM_022451.9:c.698T>C, XR_002957007.2:n.799T>C, XR_002957007.1:n.819T>C, XR_007061982.1:n.799T>C, XM_047425640.1:c.698T>C, XM_047425641.1:c.698T>C, NP_071896.8:p.Ile233Thr, XP_047281596.1:p.Ile233Thr, XP_047281597.1:p.Ile233Thr

Select item 14841115643.

rs1484111564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:94358187 (GRCh38)
10:96117944 (GRCh37)
Canonical SPDI:: NC_000010.11:94358186:T:C
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000010.11:g.94358187T>C, NC_000010.10:g.96117944T>C, NM_022451.11:c.246A>G, NM_022451.10:c.246A>G, NM_022451.9:c.246A>G, XR_002957007.2:n.347A>G, XR_002957007.1:n.367A>G, XR_007061982.1:n.347A>G, XM_047425640.1:c.246A>G, XM_047425641.1:c.246A>G

Select item 14839799924.

rs1483979992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:94355017 (GRCh38)
10:96114774 (GRCh37)
Canonical SPDI:: NC_000010.11:94355016:C:A,NC_000010.11:94355016:C:T
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.94355017C>A, NC_000010.11:g.94355017C>T, NC_000010.10:g.96114774C>A, NC_000010.10:g.96114774C>T, NM_022451.11:c.642G>T, NM_022451.11:c.642G>A, NM_022451.10:c.642G>T, NM_022451.10:c.642G>A, NM_022451.9:c.642G>T, NM_022451.9:c.642G>A, XR_002957007.2:n.743G>T, XR_002957007.2:n.743G>A, XR_002957007.1:n.763G>T, XR_002957007.1:n.763G>A, XR_007061982.1:n.743G>T, XR_007061982.1:n.743G>A, XM_047425640.1:c.642G>T, XM_047425640.1:c.642G>A, XM_047425641.1:c.642G>T, XM_047425641.1:c.642G>A, NP_071896.8:p.Lys214Asn, XP_047281596.1:p.Lys214Asn, XP_047281597.1:p.Lys214Asn

Select item 14835523775.

rs1483552377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:94344913 (GRCh38)
10:96104670 (GRCh37)
Canonical SPDI:: NC_000010.11:94344912:T:C
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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.94344913T>C, NC_000010.10:g.96104670T>C, NM_022451.11:c.1410A>G, NM_022451.10:c.1410A>G, NM_022451.9:c.1410A>G, XR_002957007.2:n.1511A>G, XR_002957007.1:n.1531A>G, XR_007061982.1:n.1511A>G, XM_047425640.1:c.1410A>G, XM_047425641.1:c.1410A>G

Select item 14835090576.

rs1483509057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:94361839 (GRCh38)
10:96121597 (GRCh37)
Canonical SPDI:: NC_000010.11:94361839:G:GG
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.94361840dup, NC_000010.10:g.96121597dup, NM_022451.11:c.42dup, NM_022451.10:c.42dup, NM_022451.9:c.42dup, XR_002957007.2:n.143dup, XR_002957007.1:n.163dup, XR_007061982.1:n.143dup, XM_047425640.1:c.42dup, XM_047425641.1:c.42dup, NP_071896.8:p.Lys15fs, XP_047281596.1:p.Lys15fs, XP_047281597.1:p.Lys15fs

Select item 14827321137.

rs1482732113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:94352378 (GRCh38)
10:96112135 (GRCh37)
Canonical SPDI:: NC_000010.11:94352377:C:G,NC_000010.11:94352377:C:T
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.94352378C>G, NC_000010.11:g.94352378C>T, NC_000010.10:g.96112135C>G, NC_000010.10:g.96112135C>T, NM_022451.11:c.884G>C, NM_022451.11:c.884G>A, NM_022451.10:c.884G>C, NM_022451.10:c.884G>A, NM_022451.9:c.884G>C, NM_022451.9:c.884G>A, XR_002957007.2:n.985G>C, XR_002957007.2:n.985G>A, XR_002957007.1:n.1005G>C, XR_002957007.1:n.1005G>A, XR_007061982.1:n.985G>C, XR_007061982.1:n.985G>A, XM_047425640.1:c.884G>C, XM_047425640.1:c.884G>A, XM_047425641.1:c.884G>C, XM_047425641.1:c.884G>A, NP_071896.8:p.Arg295Thr, NP_071896.8:p.Arg295Lys, XP_047281596.1:p.Arg295Thr, XP_047281596.1:p.Arg295Lys, XP_047281597.1:p.Arg295Thr, XP_047281597.1:p.Arg295Lys

Select item 14819905688.

rs1481990568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:94353019 (GRCh38)
10:96112776 (GRCh37)
Canonical SPDI:: NC_000010.11:94353018:T:C
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.94353019T>C, NC_000010.10:g.96112776T>C, NM_022451.11:c.735A>G, NM_022451.10:c.735A>G, NM_022451.9:c.735A>G, XR_002957007.2:n.836A>G, XR_002957007.1:n.856A>G, XR_007061982.1:n.836A>G, XM_047425640.1:c.735A>G, XM_047425641.1:c.735A>G

Select item 14818852879.

rs1481885287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:94358165 (GRCh38)
10:96117922 (GRCh37)
Canonical SPDI:: NC_000010.11:94358164:C:G,NC_000010.11:94358164:C:T
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.94358165C>G, NC_000010.11:g.94358165C>T, NC_000010.10:g.96117922C>G, NC_000010.10:g.96117922C>T, NM_022451.11:c.268G>C, NM_022451.11:c.268G>A, NM_022451.10:c.268G>C, NM_022451.10:c.268G>A, NM_022451.9:c.268G>C, NM_022451.9:c.268G>A, XR_002957007.2:n.369G>C, XR_002957007.2:n.369G>A, XR_002957007.1:n.389G>C, XR_002957007.1:n.389G>A, XR_007061982.1:n.369G>C, XR_007061982.1:n.369G>A, XM_047425640.1:c.268G>C, XM_047425640.1:c.268G>A, XM_047425641.1:c.268G>C, XM_047425641.1:c.268G>A, NP_071896.8:p.Asp90His, NP_071896.8:p.Asp90Asn, XP_047281596.1:p.Asp90His, XP_047281596.1:p.Asp90Asn, XP_047281597.1:p.Asp90His, XP_047281597.1:p.Asp90Asn

Select item 147940681410.

rs1479406814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:94349336 (GRCh38)
10:96109093 (GRCh37)
Canonical SPDI:: NC_000010.11:94349335:G:C
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.94349336G>C, NC_000010.10:g.96109093G>C, NM_022451.11:c.1171C>G, NM_022451.10:c.1171C>G, NM_022451.9:c.1171C>G, XR_002957007.2:n.1272C>G, XR_002957007.1:n.1292C>G, XR_007061982.1:n.1272C>G, XM_047425640.1:c.1171C>G, XM_047425641.1:c.1171C>G, NP_071896.8:p.Gln391Glu, XP_047281596.1:p.Gln391Glu, XP_047281597.1:p.Gln391Glu

Select item 147721179111.

rs1477211791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:94334300 (GRCh38)
10:96094057 (GRCh37)
Canonical SPDI:: NC_000010.11:94334299:T:A
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.94334300T>A, NC_000010.10:g.96094057T>A, NM_022451.11:c.2280A>T, NM_022451.10:c.2280A>T, NM_022451.9:c.2280A>T, XR_002957007.2:n.2381A>T, XR_002957007.1:n.2401A>T, XR_007061982.1:n.2381A>T, NP_071896.8:p.Lys760Asn

Select item 147682460612.

rs1476824606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:94334304 (GRCh38)
10:96094061 (GRCh37)
Canonical SPDI:: NC_000010.11:94334303:C:A
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00113/19 (TOMMO)
HGVS:: NC_000010.11:g.94334304C>A, NC_000010.10:g.96094061C>A, NM_022451.11:c.2276G>T, NM_022451.10:c.2276G>T, NM_022451.9:c.2276G>T, XR_002957007.2:n.2377G>T, XR_002957007.1:n.2397G>T, XR_007061982.1:n.2377G>T, NP_071896.8:p.Gly759Val

Select item 147499610613.

rs1474996106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:94344447 (GRCh38)
10:96104204 (GRCh37)
Canonical SPDI:: NC_000010.11:94344446:A:G
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.94344447A>G, NC_000010.10:g.96104204A>G, NM_022451.11:c.1539T>C, NM_022451.10:c.1539T>C, NM_022451.9:c.1539T>C, XR_002957007.2:n.1640T>C, XR_002957007.1:n.1660T>C, XR_007061982.1:n.1640T>C, XM_047425640.1:c.1539T>C

Select item 147358719414.

rs1473587194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:94353034 (GRCh38)
10:96112791 (GRCh37)
Canonical SPDI:: NC_000010.11:94353033:A:G
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.94353034A>G, NC_000010.10:g.96112791A>G, NM_022451.11:c.720T>C, NM_022451.10:c.720T>C, NM_022451.9:c.720T>C, XR_002957007.2:n.821T>C, XR_002957007.1:n.841T>C, XR_007061982.1:n.821T>C, XM_047425640.1:c.720T>C, XM_047425641.1:c.720T>C

Select item 147348521215.

rs1473485212 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 10:94337831 (GRCh38)
10:96097588 (GRCh37)
Canonical SPDI:: NC_000010.11:94337830:A:
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.94337831del, NC_000010.10:g.96097588del, NM_022451.11:c.2135del, NM_022451.10:c.2135del, NM_022451.9:c.2135del, XR_002957007.2:n.2236del, XR_002957007.1:n.2256del, XR_007061982.1:n.2236del, NP_071896.8:p.Ile712fs

Select item 147313450516.

rs1473134505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:94354983 (GRCh38)
10:96114740 (GRCh37)
Canonical SPDI:: NC_000010.11:94354982:A:C
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.94354983A>C, NC_000010.10:g.96114740A>C, NM_022451.11:c.676T>G, NM_022451.10:c.676T>G, NM_022451.9:c.676T>G, XR_002957007.2:n.777T>G, XR_002957007.1:n.797T>G, XR_007061982.1:n.777T>G, XM_047425640.1:c.676T>G, XM_047425641.1:c.676T>G, NP_071896.8:p.Leu226Val, XP_047281596.1:p.Leu226Val, XP_047281597.1:p.Leu226Val

Select item 147310737917.

rs1473107379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:94361706 (GRCh38)
10:96121463 (GRCh37)
Canonical SPDI:: NC_000010.11:94361705:T:C
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.94361706T>C, NC_000010.10:g.96121463T>C, NM_022451.11:c.176A>G, NM_022451.10:c.176A>G, NM_022451.9:c.176A>G, XR_002957007.2:n.277A>G, XR_002957007.1:n.297A>G, XR_007061982.1:n.277A>G, XM_047425640.1:c.176A>G, XM_047425641.1:c.176A>G, NP_071896.8:p.Lys59Arg, XP_047281596.1:p.Lys59Arg, XP_047281597.1:p.Lys59Arg

Select item 147180505718.

rs1471805057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:94340449 (GRCh38)
10:96100206 (GRCh37)
Canonical SPDI:: NC_000010.11:94340448:A:G
Gene:: NOC3L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.94340449A>G, NC_000010.10:g.96100206A>G, NM_022451.11:c.1692T>C, NM_022451.10:c.1692T>C, NM_022451.9:c.1692T>C, XR_002957007.2:n.1793T>C, XR_002957007.1:n.1813T>C, XR_007061982.1:n.1793T>C, XM_047425641.1:c.*88T>C

Select item 146818864719.

rs1468188647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:94338658 (GRCh38)
10:96098415 (GRCh37)
Canonical SPDI:: NC_000010.11:94338657:C:G,NC_000010.11:94338657:C:T
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.94338658C>G, NC_000010.11:g.94338658C>T, NC_000010.10:g.96098415C>G, NC_000010.10:g.96098415C>T, NM_022451.11:c.2041G>C, NM_022451.11:c.2041G>A, NM_022451.10:c.2041G>C, NM_022451.10:c.2041G>A, NM_022451.9:c.2041G>C, NM_022451.9:c.2041G>A, XR_002957007.2:n.2142G>C, XR_002957007.2:n.2142G>A, XR_002957007.1:n.2162G>C, XR_002957007.1:n.2162G>A, XR_007061982.1:n.2142G>C, XR_007061982.1:n.2142G>A, NP_071896.8:p.Glu681Gln, NP_071896.8:p.Glu681Lys

Select item 146726225020.

rs1467262250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:94334644 (GRCh38)
10:96094401 (GRCh37)
Canonical SPDI:: NC_000010.11:94334643:G:A
Gene:: NOC3L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.94334644G>A, NC_000010.10:g.96094401G>A, NM_022451.11:c.2264C>T, NM_022451.10:c.2264C>T, NM_022451.9:c.2264C>T, XR_002957007.2:n.2365C>T, XR_002957007.1:n.2385C>T, XR_007061982.1:n.2365C>T, NP_071896.8:p.Pro755Leu

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