SNP Links for Protein (Select 289176998) - SNP

Links from Protein

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Select item 14809036271.

rs1480903627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:94664462 (GRCh38)
7:94293774 (GRCh37)
Canonical SPDI:: NC_000007.14:94664461:T:A,NC_000007.14:94664461:T:C
Gene:: PEG10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000216/4 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000893/4 (Estonian)
HGVS:: NC_000007.14:g.94664462T>A, NC_000007.14:g.94664462T>C, NC_000007.13:g.94293774T>A, NC_000007.13:g.94293774T>C, NG_011340.1:g.13138T>A, NG_011340.1:g.13138T>C, NM_015068.3:c.906T>A, NM_015068.3:c.906T>C, NM_001172438.3:c.1134T>A, NM_001172438.3:c.1134T>C, NM_001172438.2:c.1134T>A, NM_001172438.2:c.1134T>C, NM_001172438.1:c.1134T>A, NM_001172438.1:c.1134T>C, NM_001172437.2:c.1134T>A, NM_001172437.2:c.1134T>C, NM_001172437.1:c.1134T>A, NM_001172437.1:c.1134T>C, NM_001184962.2:c.1008T>A, NM_001184962.2:c.1008T>C, NM_001184962.1:c.1008T>A, NM_001184962.1:c.1008T>C, NM_001040152.2:c.906T>A, NM_001040152.2:c.906T>C, NM_001040152.1:c.906T>A, NM_001040152.1:c.906T>C, NM_001184961.1:c.1008T>A, NM_001184961.1:c.1008T>C, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented

Select item 14801627372.

rs1480162737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94663741 (GRCh38)
7:94293053 (GRCh37)
Canonical SPDI:: NC_000007.14:94663740:G:A
Gene:: PEG10 (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_000007.14:g.94663741G>A, NC_000007.13:g.94293053G>A, NG_011340.1:g.12417G>A, NM_015068.3:c.185G>A, NM_001172438.3:c.413G>A, NM_001172438.2:c.413G>A, NM_001172438.1:c.413G>A, NM_001172437.2:c.413G>A, NM_001172437.1:c.413G>A, NM_001184962.2:c.287G>A, NM_001184962.1:c.287G>A, NM_001040152.2:c.185G>A, NM_001040152.1:c.185G>A, NM_001184961.1:c.287G>A, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Arg138His, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Arg96His, NP_001035242.1:p.Arg62His, not_yet_implemented, not_yet_implemented

Select item 14786397863.

rs1478639786 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:94663425 (GRCh38)
7:94292737 (GRCh37)
Canonical SPDI:: NC_000007.14:94663424:GGG:GG
Gene:: PEG10 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94663427del, NC_000007.13:g.94292739del, NG_011340.1:g.12103del, NM_015068.3:c.-130del, NM_001172438.3:c.99del, NM_001172438.2:c.99del, NM_001172438.1:c.99del, NM_001172437.2:c.99del, NM_001172437.1:c.99del, NM_001184962.2:c.-28del, NM_001184962.1:c.-28del, NM_001040152.2:c.-130del, NM_001040152.1:c.-130del, NM_001184961.1:c.-28del, NP_001165909.1:p.Arg34fs, not_yet_implemented, not_yet_implemented

Select item 14765216254.

rs1476521625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94663908 (GRCh38)
7:94293220 (GRCh37)
Canonical SPDI:: NC_000007.14:94663907:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94663908G>A, NC_000007.13:g.94293220G>A, NG_011340.1:g.12584G>A, NM_015068.3:c.352G>A, NM_001172438.3:c.580G>A, NM_001172438.2:c.580G>A, NM_001172438.1:c.580G>A, NM_001172437.2:c.580G>A, NM_001172437.1:c.580G>A, NM_001184962.2:c.454G>A, NM_001184962.1:c.454G>A, NM_001040152.2:c.352G>A, NM_001040152.1:c.352G>A, NM_001184961.1:c.454G>A, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Val194Ile, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Val152Ile, NP_001035242.1:p.Val118Ile, not_yet_implemented, not_yet_implemented

Select item 14753859465.

rs1475385946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94664103 (GRCh38)
7:94293415 (GRCh37)
Canonical SPDI:: NC_000007.14:94664102:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.94664103G>A, NC_000007.13:g.94293415G>A, NG_011340.1:g.12779G>A, NM_015068.3:c.547G>A, NM_001172438.3:c.775G>A, NM_001172438.2:c.775G>A, NM_001172438.1:c.775G>A, NM_001172437.2:c.775G>A, NM_001172437.1:c.775G>A, NM_001184962.2:c.649G>A, NM_001184962.1:c.649G>A, NM_001040152.2:c.547G>A, NM_001040152.1:c.547G>A, NM_001184961.1:c.649G>A, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Asp259Asn, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Asp217Asn, NP_001035242.1:p.Asp183Asn, not_yet_implemented, not_yet_implemented

Select item 14719272416.

rs1471927241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:94663529 (GRCh38)
7:94292841 (GRCh37)
Canonical SPDI:: NC_000007.14:94663528:C:A,NC_000007.14:94663528:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_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_000007.14:g.94663529C>A, NC_000007.14:g.94663529C>T, NC_000007.13:g.94292841C>A, NC_000007.13:g.94292841C>T, NG_011340.1:g.12205C>A, NG_011340.1:g.12205C>T, NM_015068.3:c.-28C>A, NM_015068.3:c.-28C>T, NM_001172438.3:c.201C>A, NM_001172438.3:c.201C>T, NM_001172438.2:c.201C>A, NM_001172438.2:c.201C>T, NM_001172438.1:c.201C>A, NM_001172438.1:c.201C>T, NM_001172437.2:c.201C>A, NM_001172437.2:c.201C>T, NM_001172437.1:c.201C>A, NM_001172437.1:c.201C>T, NM_001184962.2:c.75C>A, NM_001184962.2:c.75C>T, NM_001184962.1:c.75C>A, NM_001184962.1:c.75C>T, NM_001040152.2:c.-28C>A, NM_001040152.2:c.-28C>T, NM_001040152.1:c.-28C>A, NM_001040152.1:c.-28C>T, NM_001184961.1:c.75C>A, NM_001184961.1:c.75C>T, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented

Select item 14716509687.

rs1471650968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:94664404 (GRCh38)
7:94293716 (GRCh37)
Canonical SPDI:: NC_000007.14:94664403:A:G
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94664404A>G, NC_000007.13:g.94293716A>G, NG_011340.1:g.13080A>G, NM_015068.3:c.848A>G, NM_001172438.3:c.1076A>G, NM_001172438.2:c.1076A>G, NM_001172438.1:c.1076A>G, NM_001172437.2:c.1076A>G, NM_001172437.1:c.1076A>G, NM_001184962.2:c.950A>G, NM_001184962.1:c.950A>G, NM_001040152.2:c.848A>G, NM_001040152.1:c.848A>G, NM_001184961.1:c.950A>G, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Gln359Arg, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Gln317Arg, NP_001035242.1:p.Gln283Arg, not_yet_implemented, not_yet_implemented

Select item 14707253858.

rs1470725385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94664508 (GRCh38)
7:94293820 (GRCh37)
Canonical SPDI:: NC_000007.14:94664507:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.94664508G>A, NC_000007.13:g.94293820G>A, NG_011340.1:g.13184G>A, NM_015068.3:c.952G>A, NM_001172438.3:c.1180G>A, NM_001172438.2:c.1180G>A, NM_001172438.1:c.1180G>A, NM_001172437.2:c.1180G>A, NM_001172437.1:c.1180G>A, NM_001184962.2:c.1054G>A, NM_001184962.1:c.1054G>A, NM_001040152.2:c.952G>A, NM_001040152.1:c.952G>A, NM_001184961.1:c.1054G>A, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Ala394Thr, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Ala352Thr, NP_001035242.1:p.Ala318Thr, not_yet_implemented, not_yet_implemented

Select item 14652006019.

rs1465200601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:94663432 (GRCh38)
7:94292744 (GRCh37)
Canonical SPDI:: NC_000007.14:94663431:C:A
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.94663432C>A, NC_000007.13:g.94292744C>A, NG_011340.1:g.12108C>A, NM_015068.3:c.-125C>A, NM_001172438.3:c.104C>A, NM_001172438.2:c.104C>A, NM_001172438.1:c.104C>A, NM_001172437.2:c.104C>A, NM_001172437.1:c.104C>A, NM_001184962.2:c.-23C>A, NM_001184962.1:c.-23C>A, NM_001040152.2:c.-125C>A, NM_001040152.1:c.-125C>A, NM_001184961.1:c.-23C>A, NP_001165909.1:p.Ser35Tyr, not_yet_implemented, not_yet_implemented

Select item 146021330410.

rs1460213304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:94663552 (GRCh38)
7:94292864 (GRCh37)
Canonical SPDI:: NC_000007.14:94663551:C:G
Gene:: PEG10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_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_000007.14:g.94663552C>G, NC_000007.13:g.94292864C>G, NG_011340.1:g.12228C>G, NM_015068.3:c.-5C>G, NM_001172438.3:c.224C>G, NM_001172438.2:c.224C>G, NM_001172438.1:c.224C>G, NM_001172437.2:c.224C>G, NM_001172437.1:c.224C>G, NM_001184962.2:c.98C>G, NM_001184962.1:c.98C>G, NM_001040152.2:c.-5C>G, NM_001040152.1:c.-5C>G, NM_001184961.1:c.98C>G, NP_001165909.1:p.Pro75Arg, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Pro33Arg, not_yet_implemented, not_yet_implemented

Select item 146000607711.

rs1460006077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:94664454 (GRCh38)
7:94293766 (GRCh37)
Canonical SPDI:: NC_000007.14:94664453:A:G
Gene:: PEG10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.94664454A>G, NC_000007.13:g.94293766A>G, NG_011340.1:g.13130A>G, NM_015068.3:c.898A>G, NM_001172438.3:c.1126A>G, NM_001172438.2:c.1126A>G, NM_001172438.1:c.1126A>G, NM_001172437.2:c.1126A>G, NM_001172437.1:c.1126A>G, NM_001184962.2:c.1000A>G, NM_001184962.1:c.1000A>G, NM_001040152.2:c.898A>G, NM_001040152.1:c.898A>G, NM_001184961.1:c.1000A>G, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Thr376Ala, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Thr334Ala, NP_001035242.1:p.Thr300Ala, not_yet_implemented, not_yet_implemented

Select item 145933424012.

rs1459334240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94663418 (GRCh38)
7:94292730 (GRCh37)
Canonical SPDI:: NC_000007.14:94663417:T:C
Gene:: PEG10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.94663418T>C, NC_000007.13:g.94292730T>C, NG_011340.1:g.12094T>C, NM_015068.3:c.-139T>C, NM_001172438.3:c.90T>C, NM_001172438.2:c.90T>C, NM_001172438.1:c.90T>C, NM_001172437.2:c.90T>C, NM_001172437.1:c.90T>C, NM_001184962.2:c.-37T>C, NM_001184962.1:c.-37T>C, NM_001040152.2:c.-139T>C, NM_001040152.1:c.-139T>C, NM_001184961.1:c.-37T>C, not_yet_implemented, not_yet_implemented

Select item 145536576213.

rs1455365762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:94663836 (GRCh38)
7:94293148 (GRCh37)
Canonical SPDI:: NC_000007.14:94663835:G:C
Gene:: PEG10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000007.14:g.94663836G>C, NC_000007.13:g.94293148G>C, NG_011340.1:g.12512G>C, NM_015068.3:c.280G>C, NM_001172438.3:c.508G>C, NM_001172438.2:c.508G>C, NM_001172438.1:c.508G>C, NM_001172437.2:c.508G>C, NM_001172437.1:c.508G>C, NM_001184962.2:c.382G>C, NM_001184962.1:c.382G>C, NM_001040152.2:c.280G>C, NM_001040152.1:c.280G>C, NM_001184961.1:c.382G>C, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Ala170Pro, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Ala128Pro, NP_001035242.1:p.Ala94Pro, not_yet_implemented, not_yet_implemented

Select item 145485216114.

rs1454852161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:94663654 (GRCh38)
7:94292966 (GRCh37)
Canonical SPDI:: NC_000007.14:94663653:A:G
Gene:: PEG10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94663654A>G, NC_000007.13:g.94292966A>G, NG_011340.1:g.12330A>G, NM_015068.3:c.98A>G, NM_001172438.3:c.326A>G, NM_001172438.2:c.326A>G, NM_001172438.1:c.326A>G, NM_001172437.2:c.326A>G, NM_001172437.1:c.326A>G, NM_001184962.2:c.200A>G, NM_001184962.1:c.200A>G, NM_001040152.2:c.98A>G, NM_001040152.1:c.98A>G, NM_001184961.1:c.200A>G, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Gln109Arg, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Gln67Arg, NP_001035242.1:p.Gln33Arg, not_yet_implemented, not_yet_implemented

Select item 145385752215.

rs1453857522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:94663461 (GRCh38)
7:94292773 (GRCh37)
Canonical SPDI:: NC_000007.14:94663460:C:G
Gene:: PEG10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.94663461C>G, NC_000007.13:g.94292773C>G, NG_011340.1:g.12137C>G, NM_015068.3:c.-96C>G, NM_001172438.3:c.133C>G, NM_001172438.2:c.133C>G, NM_001172438.1:c.133C>G, NM_001172437.2:c.133C>G, NM_001172437.1:c.133C>G, NM_001184962.2:c.7C>G, NM_001184962.1:c.7C>G, NM_001040152.2:c.-96C>G, NM_001040152.1:c.-96C>G, NM_001184961.1:c.7C>G, NP_001165909.1:p.Pro45Ala, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Pro3Ala, not_yet_implemented, not_yet_implemented

Select item 145259646016.

rs1452596460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:94663493 (GRCh38)
7:94292805 (GRCh37)
Canonical SPDI:: NC_000007.14:94663492:C:A,NC_000007.14:94663492:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.94663493C>A, NC_000007.14:g.94663493C>T, NC_000007.13:g.94292805C>A, NC_000007.13:g.94292805C>T, NG_011340.1:g.12169C>A, NG_011340.1:g.12169C>T, NM_015068.3:c.-64C>A, NM_015068.3:c.-64C>T, NM_001172438.3:c.165C>A, NM_001172438.3:c.165C>T, NM_001172438.2:c.165C>A, NM_001172438.2:c.165C>T, NM_001172438.1:c.165C>A, NM_001172438.1:c.165C>T, NM_001172437.2:c.165C>A, NM_001172437.2:c.165C>T, NM_001172437.1:c.165C>A, NM_001172437.1:c.165C>T, NM_001184962.2:c.39C>A, NM_001184962.2:c.39C>T, NM_001184962.1:c.39C>A, NM_001184962.1:c.39C>T, NM_001040152.2:c.-64C>A, NM_001040152.2:c.-64C>T, NM_001040152.1:c.-64C>A, NM_001040152.1:c.-64C>T, NM_001184961.1:c.39C>A, NM_001184961.1:c.39C>T, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented

Select item 144801286717.

rs1448012867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:94663736 (GRCh38)
7:94293048 (GRCh37)
Canonical SPDI:: NC_000007.14:94663735:G:T
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94663736G>T, NC_000007.13:g.94293048G>T, NG_011340.1:g.12412G>T, NM_015068.3:c.180G>T, NM_001172438.3:c.408G>T, NM_001172438.2:c.408G>T, NM_001172438.1:c.408G>T, NM_001172437.2:c.408G>T, NM_001172437.1:c.408G>T, NM_001184962.2:c.282G>T, NM_001184962.1:c.282G>T, NM_001040152.2:c.180G>T, NM_001040152.1:c.180G>T, NM_001184961.1:c.282G>T, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Glu136Asp, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Glu94Asp, NP_001035242.1:p.Glu60Asp, not_yet_implemented, not_yet_implemented

Select item 144691744218.

rs1446917442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94664450 (GRCh38)
7:94293762 (GRCh37)
Canonical SPDI:: NC_000007.14:94664449:T:C
Gene:: PEG10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.94664450T>C, NC_000007.13:g.94293762T>C, NG_011340.1:g.13126T>C, NM_015068.3:c.894T>C, NM_001172438.3:c.1122T>C, NM_001172438.2:c.1122T>C, NM_001172438.1:c.1122T>C, NM_001172437.2:c.1122T>C, NM_001172437.1:c.1122T>C, NM_001184962.2:c.996T>C, NM_001184962.1:c.996T>C, NM_001040152.2:c.894T>C, NM_001040152.1:c.894T>C, NM_001184961.1:c.996T>C, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented

Select item 144626140519.

rs1446261405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94664527 (GRCh38)
7:94293839 (GRCh37)
Canonical SPDI:: NC_000007.14:94664526:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.94664527C>T, NC_000007.13:g.94293839C>T, NG_011340.1:g.13203C>T, NM_015068.3:c.971C>T, NM_001172438.3:c.1199C>T, NM_001172438.2:c.1199C>T, NM_001172438.1:c.1199C>T, NM_001172437.2:c.1199C>T, NM_001172437.1:c.1199C>T, NM_001184962.2:c.1073C>T, NM_001184962.1:c.1073C>T, NM_001040152.2:c.971C>T, NM_001040152.1:c.971C>T, NM_001184961.1:c.1073C>T, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.Pro400Leu, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.Pro358Leu, NP_001035242.1:p.Pro324Leu, not_yet_implemented, not_yet_implemented

Select item 144579860220.

rs1445798602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94664175 (GRCh38)
7:94293487 (GRCh37)
Canonical SPDI:: NC_000007.14:94664174:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.94664175C>T, NC_000007.13:g.94293487C>T, NG_011340.1:g.12851C>T, NM_015068.3:c.619C>T, NM_001172438.3:c.847C>T, NM_001172438.2:c.847C>T, NM_001172438.1:c.847C>T, NM_001172437.2:c.847C>T, NM_001172437.1:c.847C>T, NM_001184962.2:c.721C>T, NM_001184962.1:c.721C>T, NM_001040152.2:c.619C>T, NM_001040152.1:c.619C>T, NM_001184961.1:c.721C>T, not_yet_implemented, not_yet_implemented, NP_001165909.1:p.His283Tyr, not_yet_implemented, not_yet_implemented, NP_001171891.1:p.His241Tyr, NP_001035242.1:p.His207Tyr, not_yet_implemented, not_yet_implemented

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