SNP Links for Nucleotide (Select 767910113) - 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 14907799792.

rs1490779979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:176845363 (GRCh38)
1:176814499 (GRCh37)
Canonical SPDI:: NC_000001.11:176845362:T:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000216/4 (ALFA)
C=0.000036/5 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.176845363T>C, NC_000001.10:g.176814499T>C, XM_005245422.4:c.*2909T>C, XM_005245422.3:c.*2909T>C, XM_005245422.2:c.*2909T>C, XM_005245422.1:c.*2909T>C, NM_020318.3:c.*2909T>C, XM_017002024.2:c.*2909T>C, XM_017002024.1:c.*2909T>C, XM_017002023.2:c.*2909T>C, XM_017002023.1:c.*2909T>C, XM_047427180.1:c.*2909T>C, XM_011509857.1:c.*2909T>C

Select item 14904548213.

rs1490454821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:176843668 (GRCh38)
1:176812804 (GRCh37)
Canonical SPDI:: NC_000001.11:176843667:A:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.176843668A>C, NC_000001.10:g.176812804A>C, NG_023390.1:g.385498A>C, NM_020318.3:c.*1214A>C, XM_005245422.4:c.*1214A>C, XM_005245422.3:c.*1214A>C, XM_005245422.2:c.*1214A>C, XM_005245422.1:c.*1214A>C, XM_017002024.2:c.*1214A>C, XM_017002024.1:c.*1214A>C, XM_017002023.2:c.*1214A>C, XM_017002023.1:c.*1214A>C, XM_047427180.1:c.*1214A>C, XM_011509857.1:c.*1214A>C

Select item 14902909764.

rs1490290976 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA [Show Flanks]
Chromosome:: 1:176844234 (GRCh38)
1:176813371 (GRCh37)
Canonical SPDI:: NC_000001.11:176844234::TCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA
Gene:: PAPPA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.176844234_176844235insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, NC_000001.10:g.176813370_176813371insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, NG_023390.1:g.386064_386065insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, NM_020318.3:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_005245422.4:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_005245422.3:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_005245422.2:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_005245422.1:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_017002024.2:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_017002024.1:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_017002023.2:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_017002023.1:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_047427180.1:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA, XM_011509857.1:c.*1780_*1781insTCCATCTTAAAAAAACAAAACAAAACAAAACAAAACAAA

Select item 14902838825.

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 14900401566.

rs1490040156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:176555891 (GRCh38)
1:176525027 (GRCh37)
Canonical SPDI:: NC_000001.11:176555890:G:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.176555891G>C, NC_000001.10:g.176525027G>C, NG_023390.1:g.97721G>C, NM_020318.3:c.-432G>C, NM_020318.2:c.-432G>C, NM_021936.3:c.-432G>C, NM_021936.2:c.-432G>C, XM_005245422.4:c.-432G>C, XM_005245422.3:c.-432G>C, XM_005245422.2:c.-432G>C, XM_005245422.1:c.-432G>C, XM_017002024.2:c.-432G>C, XM_017002024.1:c.-432G>C, XM_017002023.2:c.-432G>C, XM_017002023.1:c.-432G>C, XM_047427180.1:c.-432G>C, XM_011509857.1:c.-432G>C

Select item 14898080487.

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 14884998028.

rs1488499802 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATAT>- [Show Flanks]
Chromosome:: 1:176843010 (GRCh38)
1:176812146 (GRCh37)
Canonical SPDI:: NC_000001.11:176843004:TATATTATAT:TATAT
Gene:: PAPPA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATTATAT=0./0 (ALFA)
-=0.000051/7 (GnomAD)
-=0.000072/19 (TOPMED)
HGVS:: NC_000001.11:g.176843005TATAT[1], NC_000001.10:g.176812141TATAT[1], NG_023390.1:g.384835TATAT[1], NM_020318.3:c.*551TATAT[1], XM_005245422.4:c.*551TATAT[1], XM_005245422.3:c.*551TATAT[1], XM_005245422.2:c.*551TATAT[1], XM_005245422.1:c.*551TATAT[1], XM_017002024.2:c.*551TATAT[1], XM_017002024.1:c.*551TATAT[1], XM_017002023.2:c.*551TATAT[1], XM_017002023.1:c.*551TATAT[1], XM_047427180.1:c.*551TATAT[1], XM_011509857.1:c.*551TATAT[1]

Select item 14883592309.

rs1488359230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:176556151 (GRCh38)
1:176525287 (GRCh37)
Canonical SPDI:: NC_000001.11:176556150:G:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.176556151G>C, NC_000001.10:g.176525287G>C, NG_023390.1:g.97981G>C, NM_020318.3:c.-172G>C, NM_020318.2:c.-172G>C, NM_021936.3:c.-172G>C, NM_021936.2:c.-172G>C, XM_005245422.4:c.-172G>C, XM_005245422.3:c.-172G>C, XM_005245422.2:c.-172G>C, XM_005245422.1:c.-172G>C, XM_017002024.2:c.-172G>C, XM_017002024.1:c.-172G>C, XM_017002023.2:c.-172G>C, XM_017002023.1:c.-172G>C, XM_047427180.1:c.-172G>C, XM_011509857.1:c.-172G>C

Select item 148807550410.

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 148782127211.

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 148762344612.

rs1487623446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:176844324 (GRCh38)
1:176813460 (GRCh37)
Canonical SPDI:: NC_000001.11:176844323:T:C
Gene:: PAPPA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.176844324T>C, NC_000001.10:g.176813460T>C, NG_023390.1:g.386154T>C, NM_020318.3:c.*1870T>C, XM_005245422.4:c.*1870T>C, XM_005245422.3:c.*1870T>C, XM_005245422.2:c.*1870T>C, XM_005245422.1:c.*1870T>C, XM_017002024.2:c.*1870T>C, XM_017002024.1:c.*1870T>C, XM_017002023.2:c.*1870T>C, XM_017002023.1:c.*1870T>C, XM_047427180.1:c.*1870T>C, XM_011509857.1:c.*1870T>C

Select item 148722712713.

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 148667870114.

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 148649459215.

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 148569882116.

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 148560024117.

rs1485600241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:176845010 (GRCh38)
1:176814146 (GRCh37)
Canonical SPDI:: NC_000001.11:176845009:G:A,NC_000001.11:176845009:G:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
A=0.002937/49 (TOMMO)
HGVS:: NC_000001.11:g.176845010G>A, NC_000001.11:g.176845010G>T, NC_000001.10:g.176814146G>A, NC_000001.10:g.176814146G>T, XM_005245422.4:c.*2556G>A, XM_005245422.4:c.*2556G>T, XM_005245422.3:c.*2556G>A, XM_005245422.3:c.*2556G>T, XM_005245422.2:c.*2556G>A, XM_005245422.2:c.*2556G>T, XM_005245422.1:c.*2556G>A, XM_005245422.1:c.*2556G>T, NM_020318.3:c.*2556G>A, NM_020318.3:c.*2556G>T, XM_017002024.2:c.*2556G>A, XM_017002024.2:c.*2556G>T, XM_017002024.1:c.*2556G>A, XM_017002024.1:c.*2556G>T, XM_017002023.2:c.*2556G>A, XM_017002023.2:c.*2556G>T, XM_017002023.1:c.*2556G>A, XM_017002023.1:c.*2556G>T, XM_047427180.1:c.*2556G>A, XM_047427180.1:c.*2556G>T, XM_011509857.1:c.*2556G>A, XM_011509857.1:c.*2556G>T

Select item 148553300418.

rs1485533004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:176843029 (GRCh38)
1:176812165 (GRCh37)
Canonical SPDI:: NC_000001.11:176843028:G:T
Gene:: PAPPA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.176843029G>T, NC_000001.10:g.176812165G>T, NG_023390.1:g.384859G>T, NM_020318.3:c.*575G>T, XM_005245422.4:c.*575G>T, XM_005245422.3:c.*575G>T, XM_005245422.2:c.*575G>T, XM_005245422.1:c.*575G>T, XM_017002024.2:c.*575G>T, XM_017002024.1:c.*575G>T, XM_017002023.2:c.*575G>T, XM_017002023.1:c.*575G>T, XM_047427180.1:c.*575G>T, XM_011509857.1:c.*575G>T

Select item 148538902319.

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 148526717020.

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

dbSNP

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