SNP Links for Protein (Select 116174738) - SNP

Select item 14909254191.

rs1490925419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:176765739 (GRCh38)
1:176734875 (GRCh37)
Canonical SPDI:: NC_000001.11:176765738:T:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.176765739T>C, NC_000001.10:g.176734875T>C, NG_023390.1:g.307569T>C, NM_020318.3:c.4225T>C, NM_020318.2:c.4225T>C, XM_005245422.4:c.4225T>C, XM_005245422.3:c.4225T>C, XM_005245422.2:c.4225T>C, XM_005245422.1:c.4225T>C, XM_017002024.2:c.4225T>C, XM_017002024.1:c.4225T>C, XM_017002023.2:c.4225T>C, XM_017002023.1:c.4225T>C, XM_047427180.1:c.4225T>C, XM_011509857.1:c.4225T>C, NP_064714.2:p.Cys1409Arg, XP_005245479.1:p.Cys1409Arg, XP_016857513.1:p.Cys1409Arg, XP_016857512.1:p.Cys1409Arg, XP_047283136.1:p.Cys1409Arg, XP_011508159.1:p.Cys1409Arg

Select item 14902838822.

rs1490283882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:176594735 (GRCh38)
1:176563871 (GRCh37)
Canonical SPDI:: NC_000001.11:176594734:C:G
Gene:: PAPPA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.176594735C>G, NC_000001.10:g.176563871C>G, NG_023390.1:g.136565C>G, NM_020318.3:c.1131C>G, NM_020318.2:c.1131C>G, NM_021936.3:c.1131C>G, NM_021936.2:c.1131C>G, XM_005245422.4:c.1131C>G, XM_005245422.3:c.1131C>G, XM_005245422.2:c.1131C>G, XM_005245422.1:c.1131C>G, XM_017002024.2:c.1131C>G, XM_017002024.1:c.1131C>G, XM_017002023.2:c.1131C>G, XM_017002023.1:c.1131C>G, XM_047427180.1:c.1131C>G, XM_011509857.1:c.1131C>G

Select item 14898080483.

rs1489808048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:176556347 (GRCh38)
1:176525483 (GRCh37)
Canonical SPDI:: NC_000001.11:176556346:A:G
Gene:: PAPPA2 (Varview)
Functional Consequence:: 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)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176556347A>G, NC_000001.10:g.176525483A>G, NG_023390.1:g.98177A>G, NM_020318.3:c.25A>G, NM_020318.2:c.25A>G, NM_021936.3:c.25A>G, NM_021936.2:c.25A>G, XM_005245422.4:c.25A>G, XM_005245422.3:c.25A>G, XM_005245422.2:c.25A>G, XM_005245422.1:c.25A>G, XM_017002024.2:c.25A>G, XM_017002024.1:c.25A>G, XM_017002023.2:c.25A>G, XM_017002023.1:c.25A>G, XM_047427180.1:c.25A>G, XM_011509857.1:c.25A>G, NP_064714.2:p.Ile9Val, NP_068755.2:p.Ile9Val, XP_005245479.1:p.Ile9Val, XP_016857513.1:p.Ile9Val, XP_016857512.1:p.Ile9Val, XP_047283136.1:p.Ile9Val, XP_011508159.1:p.Ile9Val

Select item 14880755044.

rs1488075504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:176699423 (GRCh38)
1:176668559 (GRCh37)
Canonical SPDI:: NC_000001.11:176699422:A:G
Gene:: PAPPA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176699423A>G, NC_000001.10:g.176668559A>G, NG_023390.1:g.241253A>G, NM_020318.3:c.3070A>G, NM_020318.2:c.3070A>G, XM_005245422.4:c.3070A>G, XM_005245422.3:c.3070A>G, XM_005245422.2:c.3070A>G, XM_005245422.1:c.3070A>G, XM_017002024.2:c.3070A>G, XM_017002024.1:c.3070A>G, XM_017002023.2:c.3070A>G, XM_017002023.1:c.3070A>G, XM_047427180.1:c.3070A>G, XM_011509857.1:c.3070A>G, NP_064714.2:p.Thr1024Ala, XP_005245479.1:p.Thr1024Ala, XP_016857513.1:p.Thr1024Ala, XP_016857512.1:p.Thr1024Ala, XP_047283136.1:p.Thr1024Ala, XP_011508159.1:p.Thr1024Ala

Select item 14878212725.

rs1487821272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:176800074 (GRCh38)
1:176769210 (GRCh37)
Canonical SPDI:: NC_000001.11:176800073:C:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176800074C>T, NC_000001.10:g.176769210C>T, NG_023390.1:g.341904C>T, NM_020318.3:c.5144C>T, NM_020318.2:c.5144C>T, XM_005245422.4:c.5144C>T, XM_005245422.3:c.5144C>T, XM_005245422.2:c.5144C>T, XM_005245422.1:c.5144C>T, XM_017002024.2:c.5144C>T, XM_017002024.1:c.5144C>T, XM_017002023.2:c.5144C>T, XM_017002023.1:c.5144C>T, XM_047427180.1:c.5144C>T, XM_011509857.1:c.5144C>T, NP_064714.2:p.Thr1715Ile, XP_005245479.1:p.Thr1715Ile, XP_016857513.1:p.Thr1715Ile, XP_016857512.1:p.Thr1715Ile, XP_047283136.1:p.Thr1715Ile, XP_011508159.1:p.Thr1715Ile

Select item 14872271276.

rs1487227127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:176594944 (GRCh38)
1:176564080 (GRCh37)
Canonical SPDI:: NC_000001.11:176594943:G:C,NC_000001.11:176594943:G:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.176594944G>C, NC_000001.11:g.176594944G>T, NC_000001.10:g.176564080G>C, NC_000001.10:g.176564080G>T, NG_023390.1:g.136774G>C, NG_023390.1:g.136774G>T, NM_020318.3:c.1340G>C, NM_020318.3:c.1340G>T, NM_020318.2:c.1340G>C, NM_020318.2:c.1340G>T, NM_021936.3:c.1340G>C, NM_021936.3:c.1340G>T, NM_021936.2:c.1340G>C, NM_021936.2:c.1340G>T, XM_005245422.4:c.1340G>C, XM_005245422.4:c.1340G>T, XM_005245422.3:c.1340G>C, XM_005245422.3:c.1340G>T, XM_005245422.2:c.1340G>C, XM_005245422.2:c.1340G>T, XM_005245422.1:c.1340G>C, XM_005245422.1:c.1340G>T, XM_017002024.2:c.1340G>C, XM_017002024.2:c.1340G>T, XM_017002024.1:c.1340G>C, XM_017002024.1:c.1340G>T, XM_017002023.2:c.1340G>C, XM_017002023.2:c.1340G>T, XM_017002023.1:c.1340G>C, XM_017002023.1:c.1340G>T, XM_047427180.1:c.1340G>C, XM_047427180.1:c.1340G>T, XM_011509857.1:c.1340G>C, XM_011509857.1:c.1340G>T, NP_064714.2:p.Gly447Ala, NP_064714.2:p.Gly447Val, NP_068755.2:p.Gly447Ala, NP_068755.2:p.Gly447Val, XP_005245479.1:p.Gly447Ala, XP_005245479.1:p.Gly447Val, XP_016857513.1:p.Gly447Ala, XP_016857513.1:p.Gly447Val, XP_016857512.1:p.Gly447Ala, XP_016857512.1:p.Gly447Val, XP_047283136.1:p.Gly447Ala, XP_047283136.1:p.Gly447Val, XP_011508159.1:p.Gly447Ala, XP_011508159.1:p.Gly447Val

Select item 14866787017.

rs1486678701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:176595207 (GRCh38)
1:176564343 (GRCh37)
Canonical SPDI:: NC_000001.11:176595206:G:A,NC_000001.11:176595206:G:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.176595207G>A, NC_000001.11:g.176595207G>T, NC_000001.10:g.176564343G>A, NC_000001.10:g.176564343G>T, NG_023390.1:g.137037G>A, NG_023390.1:g.137037G>T, NM_020318.3:c.1603G>A, NM_020318.3:c.1603G>T, NM_020318.2:c.1603G>A, NM_020318.2:c.1603G>T, NM_021936.3:c.1603G>A, NM_021936.3:c.1603G>T, NM_021936.2:c.1603G>A, NM_021936.2:c.1603G>T, XM_005245422.4:c.1603G>A, XM_005245422.4:c.1603G>T, XM_005245422.3:c.1603G>A, XM_005245422.3:c.1603G>T, XM_005245422.2:c.1603G>A, XM_005245422.2:c.1603G>T, XM_005245422.1:c.1603G>A, XM_005245422.1:c.1603G>T, XM_017002024.2:c.1603G>A, XM_017002024.2:c.1603G>T, XM_017002024.1:c.1603G>A, XM_017002024.1:c.1603G>T, XM_017002023.2:c.1603G>A, XM_017002023.2:c.1603G>T, XM_017002023.1:c.1603G>A, XM_017002023.1:c.1603G>T, XM_047427180.1:c.1603G>A, XM_047427180.1:c.1603G>T, XM_011509857.1:c.1603G>A, XM_011509857.1:c.1603G>T, NP_064714.2:p.Asp535Asn, NP_064714.2:p.Asp535Tyr, NP_068755.2:p.Asp535Asn, NP_068755.2:p.Asp535Tyr, XP_005245479.1:p.Asp535Asn, XP_005245479.1:p.Asp535Tyr, XP_016857513.1:p.Asp535Asn, XP_016857513.1:p.Asp535Tyr, XP_016857512.1:p.Asp535Asn, XP_016857512.1:p.Asp535Tyr, XP_047283136.1:p.Asp535Asn, XP_047283136.1:p.Asp535Tyr, XP_011508159.1:p.Asp535Asn, XP_011508159.1:p.Asp535Tyr

Select item 14864945928.

rs1486494592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:176765762 (GRCh38)
1:176734898 (GRCh37)
Canonical SPDI:: NC_000001.11:176765761:C:A,NC_000001.11:176765761:C:G,NC_000001.11:176765761:C:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.176765762C>A, NC_000001.11:g.176765762C>G, NC_000001.11:g.176765762C>T, NC_000001.10:g.176734898C>A, NC_000001.10:g.176734898C>G, NC_000001.10:g.176734898C>T, NG_023390.1:g.307592C>A, NG_023390.1:g.307592C>G, NG_023390.1:g.307592C>T, NM_020318.3:c.4248C>A, NM_020318.3:c.4248C>G, NM_020318.3:c.4248C>T, NM_020318.2:c.4248C>A, NM_020318.2:c.4248C>G, NM_020318.2:c.4248C>T, XM_005245422.4:c.4248C>A, XM_005245422.4:c.4248C>G, XM_005245422.4:c.4248C>T, XM_005245422.3:c.4248C>A, XM_005245422.3:c.4248C>G, XM_005245422.3:c.4248C>T, XM_005245422.2:c.4248C>A, XM_005245422.2:c.4248C>G, XM_005245422.2:c.4248C>T, XM_005245422.1:c.4248C>A, XM_005245422.1:c.4248C>G, XM_005245422.1:c.4248C>T, XM_017002024.2:c.4248C>A, XM_017002024.2:c.4248C>G, XM_017002024.2:c.4248C>T, XM_017002024.1:c.4248C>A, XM_017002024.1:c.4248C>G, XM_017002024.1:c.4248C>T, XM_017002023.2:c.4248C>A, XM_017002023.2:c.4248C>G, XM_017002023.2:c.4248C>T, XM_017002023.1:c.4248C>A, XM_017002023.1:c.4248C>G, XM_017002023.1:c.4248C>T, XM_047427180.1:c.4248C>A, XM_047427180.1:c.4248C>G, XM_047427180.1:c.4248C>T, XM_011509857.1:c.4248C>A, XM_011509857.1:c.4248C>G, XM_011509857.1:c.4248C>T

Select item 14856988219.

rs1485698821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:176595533 (GRCh38)
1:176564669 (GRCh37)
Canonical SPDI:: NC_000001.11:176595532:C:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176595533C>T, NC_000001.10:g.176564669C>T, NG_023390.1:g.137363C>T, NM_020318.3:c.1929C>T, NM_020318.2:c.1929C>T, NM_021936.3:c.1929C>T, NM_021936.2:c.1929C>T, XM_005245422.4:c.1929C>T, XM_005245422.3:c.1929C>T, XM_005245422.2:c.1929C>T, XM_005245422.1:c.1929C>T, XM_017002024.2:c.1929C>T, XM_017002024.1:c.1929C>T, XM_017002023.2:c.1929C>T, XM_017002023.1:c.1929C>T, XM_047427180.1:c.1929C>T, XM_011509857.1:c.1929C>T

Select item 148538902310.

rs1485389023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:176740030 (GRCh38)
1:176709166 (GRCh37)
Canonical SPDI:: NC_000001.11:176740029:C:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176740030C>T, NC_000001.10:g.176709166C>T, NG_023390.1:g.281860C>T, NM_020318.3:c.3985C>T, NM_020318.2:c.3985C>T, XM_005245422.4:c.3985C>T, XM_005245422.3:c.3985C>T, XM_005245422.2:c.3985C>T, XM_005245422.1:c.3985C>T, XM_017002024.2:c.3985C>T, XM_017002024.1:c.3985C>T, XM_017002023.2:c.3985C>T, XM_017002023.1:c.3985C>T, XM_047427180.1:c.3985C>T, XM_011509857.1:c.3985C>T, NP_064714.2:p.His1329Tyr, XP_005245479.1:p.His1329Tyr, XP_016857513.1:p.His1329Tyr, XP_016857512.1:p.His1329Tyr, XP_047283136.1:p.His1329Tyr, XP_011508159.1:p.His1329Tyr

Select item 148526717011.

rs1485267170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:176595400 (GRCh38)
1:176564536 (GRCh37)
Canonical SPDI:: NC_000001.11:176595399:A:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.176595400A>C, NC_000001.10:g.176564536A>C, NG_023390.1:g.137230A>C, NM_020318.3:c.1796A>C, NM_020318.2:c.1796A>C, NM_021936.3:c.1796A>C, NM_021936.2:c.1796A>C, XM_005245422.4:c.1796A>C, XM_005245422.3:c.1796A>C, XM_005245422.2:c.1796A>C, XM_005245422.1:c.1796A>C, XM_017002024.2:c.1796A>C, XM_017002024.1:c.1796A>C, XM_017002023.2:c.1796A>C, XM_017002023.1:c.1796A>C, XM_047427180.1:c.1796A>C, XM_011509857.1:c.1796A>C, NP_064714.2:p.Glu599Ala, NP_068755.2:p.Glu599Ala, XP_005245479.1:p.Glu599Ala, XP_016857513.1:p.Glu599Ala, XP_016857512.1:p.Glu599Ala, XP_047283136.1:p.Glu599Ala, XP_011508159.1:p.Glu599Ala

Select item 148466013412.

rs1484660134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:176557121 (GRCh38)
1:176526257 (GRCh37)
Canonical SPDI:: NC_000001.11:176557120:G:A
Gene:: PAPPA2 (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_000001.11:g.176557121G>A, NC_000001.10:g.176526257G>A, NG_023390.1:g.98951G>A, NM_020318.3:c.799G>A, NM_020318.2:c.799G>A, NM_021936.3:c.799G>A, NM_021936.2:c.799G>A, NG_082253.1:g.374G>A, XM_005245422.4:c.799G>A, XM_005245422.3:c.799G>A, XM_005245422.2:c.799G>A, XM_005245422.1:c.799G>A, XM_017002024.2:c.799G>A, XM_017002024.1:c.799G>A, XM_017002023.2:c.799G>A, XM_017002023.1:c.799G>A, XM_047427180.1:c.799G>A, XM_011509857.1:c.799G>A, NP_064714.2:p.Gly267Arg, NP_068755.2:p.Gly267Arg, XP_005245479.1:p.Gly267Arg, XP_016857513.1:p.Gly267Arg, XP_016857512.1:p.Gly267Arg, XP_047283136.1:p.Gly267Arg, XP_011508159.1:p.Gly267Arg

Select item 148367738913.

rs1483677389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:176556530 (GRCh38)
1:176525666 (GRCh37)
Canonical SPDI:: NC_000001.11:176556529:G:A
Gene:: PAPPA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.176556530G>A, NC_000001.10:g.176525666G>A, NG_023390.1:g.98360G>A, NM_020318.3:c.208G>A, NM_020318.2:c.208G>A, NM_021936.3:c.208G>A, NM_021936.2:c.208G>A, XM_005245422.4:c.208G>A, XM_005245422.3:c.208G>A, XM_005245422.2:c.208G>A, XM_005245422.1:c.208G>A, XM_017002024.2:c.208G>A, XM_017002024.1:c.208G>A, XM_017002023.2:c.208G>A, XM_017002023.1:c.208G>A, XM_047427180.1:c.208G>A, XM_011509857.1:c.208G>A, NP_064714.2:p.Val70Ile, NP_068755.2:p.Val70Ile, XP_005245479.1:p.Val70Ile, XP_016857513.1:p.Val70Ile, XP_016857512.1:p.Val70Ile, XP_047283136.1:p.Val70Ile, XP_011508159.1:p.Val70Ile

Select item 148340435114.

rs1483404351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:176594526 (GRCh38)
1:176563662 (GRCh37)
Canonical SPDI:: NC_000001.11:176594525:G:A
Gene:: PAPPA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176594526G>A, NC_000001.10:g.176563662G>A, NG_023390.1:g.136356G>A, NM_020318.3:c.922G>A, NM_020318.2:c.922G>A, NM_021936.3:c.922G>A, NM_021936.2:c.922G>A, XM_005245422.4:c.922G>A, XM_005245422.3:c.922G>A, XM_005245422.2:c.922G>A, XM_005245422.1:c.922G>A, XM_017002024.2:c.922G>A, XM_017002024.1:c.922G>A, XM_017002023.2:c.922G>A, XM_017002023.1:c.922G>A, XM_047427180.1:c.922G>A, XM_011509857.1:c.922G>A, NP_064714.2:p.Val308Met, NP_068755.2:p.Val308Met, XP_005245479.1:p.Val308Met, XP_016857513.1:p.Val308Met, XP_016857512.1:p.Val308Met, XP_047283136.1:p.Val308Met, XP_011508159.1:p.Val308Met

Select item 148278790815.

rs1482787908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:176695738 (GRCh38)
1:176664874 (GRCh37)
Canonical SPDI:: NC_000001.11:176695737:G:A
Gene:: PAPPA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.176695738G>A, NC_000001.10:g.176664874G>A, NG_023390.1:g.237568G>A, NM_020318.3:c.2625G>A, NM_020318.2:c.2625G>A, XM_005245422.4:c.2625G>A, XM_005245422.3:c.2625G>A, XM_005245422.2:c.2625G>A, XM_005245422.1:c.2625G>A, XM_017002024.2:c.2625G>A, XM_017002024.1:c.2625G>A, XM_017002023.2:c.2625G>A, XM_017002023.1:c.2625G>A, XM_047427180.1:c.2625G>A, XM_011509857.1:c.2625G>A

Select item 148242412816.

rs1482424128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:176594869 (GRCh38)
1:176564005 (GRCh37)
Canonical SPDI:: NC_000001.11:176594868:A:C,NC_000001.11:176594868:A:G
Gene:: PAPPA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
C=0.003821/7 (Korea1K)
HGVS:: NC_000001.11:g.176594869A>C, NC_000001.11:g.176594869A>G, NC_000001.10:g.176564005A>C, NC_000001.10:g.176564005A>G, NG_023390.1:g.136699A>C, NG_023390.1:g.136699A>G, NM_020318.3:c.1265A>C, NM_020318.3:c.1265A>G, NM_020318.2:c.1265A>C, NM_020318.2:c.1265A>G, NM_021936.3:c.1265A>C, NM_021936.3:c.1265A>G, NM_021936.2:c.1265A>C, NM_021936.2:c.1265A>G, XM_005245422.4:c.1265A>C, XM_005245422.4:c.1265A>G, XM_005245422.3:c.1265A>C, XM_005245422.3:c.1265A>G, XM_005245422.2:c.1265A>C, XM_005245422.2:c.1265A>G, XM_005245422.1:c.1265A>C, XM_005245422.1:c.1265A>G, XM_017002024.2:c.1265A>C, XM_017002024.2:c.1265A>G, XM_017002024.1:c.1265A>C, XM_017002024.1:c.1265A>G, XM_017002023.2:c.1265A>C, XM_017002023.2:c.1265A>G, XM_017002023.1:c.1265A>C, XM_017002023.1:c.1265A>G, XM_047427180.1:c.1265A>C, XM_047427180.1:c.1265A>G, XM_011509857.1:c.1265A>C, XM_011509857.1:c.1265A>G, NP_064714.2:p.His422Pro, NP_064714.2:p.His422Arg, NP_068755.2:p.His422Pro, NP_068755.2:p.His422Arg, XP_005245479.1:p.His422Pro, XP_005245479.1:p.His422Arg, XP_016857513.1:p.His422Pro, XP_016857513.1:p.His422Arg, XP_016857512.1:p.His422Pro, XP_016857512.1:p.His422Arg, XP_047283136.1:p.His422Pro, XP_047283136.1:p.His422Arg, XP_011508159.1:p.His422Pro, XP_011508159.1:p.His422Arg

Select item 148218883617.

rs1482188836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:176710095 (GRCh38)
1:176679231 (GRCh37)
Canonical SPDI:: NC_000001.11:176710094:A:G
Gene:: PAPPA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176710095A>G, NC_000001.10:g.176679231A>G, NG_023390.1:g.251925A>G, NM_020318.3:c.3570A>G, NM_020318.2:c.3570A>G, XM_005245422.4:c.3570A>G, XM_005245422.3:c.3570A>G, XM_005245422.2:c.3570A>G, XM_005245422.1:c.3570A>G, XM_017002024.2:c.3570A>G, XM_017002024.1:c.3570A>G, XM_017002023.2:c.3570A>G, XM_017002023.1:c.3570A>G, XM_047427180.1:c.3570A>G, XM_011509857.1:c.3570A>G

Select item 148076833418.

rs1480768334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:176771106 (GRCh38)
1:176740242 (GRCh37)
Canonical SPDI:: NC_000001.11:176771105:C:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_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=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.176771106C>T, NC_000001.10:g.176740242C>T, NG_023390.1:g.312936C>T, NM_020318.3:c.4641C>T, NM_020318.2:c.4641C>T, XM_005245422.4:c.4641C>T, XM_005245422.3:c.4641C>T, XM_005245422.2:c.4641C>T, XM_005245422.1:c.4641C>T, XM_017002024.2:c.4641C>T, XM_017002024.1:c.4641C>T, XM_017002023.2:c.4641C>T, XM_017002023.1:c.4641C>T, XM_047427180.1:c.4641C>T, XM_011509857.1:c.4641C>T

Select item 148040498119.

rs1480404981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:176595129 (GRCh38)
1:176564265 (GRCh37)
Canonical SPDI:: NC_000001.11:176595128:T:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.176595129T>C, NC_000001.10:g.176564265T>C, NG_023390.1:g.136959T>C, NM_020318.3:c.1525T>C, NM_020318.2:c.1525T>C, NM_021936.3:c.1525T>C, NM_021936.2:c.1525T>C, XM_005245422.4:c.1525T>C, XM_005245422.3:c.1525T>C, XM_005245422.2:c.1525T>C, XM_005245422.1:c.1525T>C, XM_017002024.2:c.1525T>C, XM_017002024.1:c.1525T>C, XM_017002023.2:c.1525T>C, XM_017002023.1:c.1525T>C, XM_047427180.1:c.1525T>C, XM_011509857.1:c.1525T>C

Select item 148015679920.

rs1480156799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:176556638 (GRCh38)
1:176525774 (GRCh37)
Canonical SPDI:: NC_000001.11:176556637:C:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.176556638C>T, NC_000001.10:g.176525774C>T, NG_023390.1:g.98468C>T, NM_020318.3:c.316C>T, NM_020318.2:c.316C>T, NM_021936.3:c.316C>T, NM_021936.2:c.316C>T, XM_005245422.4:c.316C>T, XM_005245422.3:c.316C>T, XM_005245422.2:c.316C>T, XM_005245422.1:c.316C>T, XM_017002024.2:c.316C>T, XM_017002024.1:c.316C>T, XM_017002023.2:c.316C>T, XM_017002023.1:c.316C>T, XM_047427180.1:c.316C>T, XM_011509857.1:c.316C>T, NP_064714.2:p.Leu106Phe, NP_068755.2:p.Leu106Phe, XP_005245479.1:p.Leu106Phe, XP_016857513.1:p.Leu106Phe, XP_016857512.1:p.Leu106Phe, XP_047283136.1:p.Leu106Phe, XP_011508159.1:p.Leu106Phe

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Result Filters

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Items: 1 to 20 of 1686

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