SNP Links for Protein (Select 768013562) - SNP

Select item 14902728501.

rs1490272850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:14325574 (GRCh38)
20:14306220 (GRCh37)
Canonical SPDI:: NC_000020.11:14325573:C:T
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.14325574C>T, NC_000020.10:g.14306220C>T, NG_054905.1:g.335075C>T, NG_033913.1:g.17094G>A, NM_013281.4:c.1933G>A, NM_013281.3:c.1933G>A, NM_198391.3:c.1933G>A, NM_198391.2:c.1933G>A, XM_005260682.5:c.1933G>A, XM_005260682.4:c.1933G>A, XM_005260682.3:c.1933G>A, XM_005260682.2:c.1933G>A, XM_005260682.1:c.1933G>A, XM_011529204.3:c.1933G>A, XM_011529204.2:c.1933G>A, XM_011529204.1:c.1933G>A, XM_011529205.3:c.1933G>A, XM_011529205.2:c.1933G>A, XM_011529205.1:c.1933G>A, NP_037413.1:p.Asp645Asn, NP_938205.1:p.Asp645Asn, XP_005260739.1:p.Asp645Asn, XP_011527506.1:p.Asp645Asn, XP_011527507.1:p.Asp645Asn

Select item 14899311592.

rs1489931159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:14326420 (GRCh38)
20:14307066 (GRCh37)
Canonical SPDI:: NC_000020.11:14326419:T:A
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000020.11:g.14326420T>A, NC_000020.10:g.14307066T>A, NG_054905.1:g.335921T>A, NG_033913.1:g.16248A>T, NM_013281.4:c.1087A>T, NM_013281.3:c.1087A>T, NM_198391.3:c.1087A>T, NM_198391.2:c.1087A>T, XM_005260682.5:c.1087A>T, XM_005260682.4:c.1087A>T, XM_005260682.3:c.1087A>T, XM_005260682.2:c.1087A>T, XM_005260682.1:c.1087A>T, XM_011529204.3:c.1087A>T, XM_011529204.2:c.1087A>T, XM_011529204.1:c.1087A>T, XM_011529205.3:c.1087A>T, XM_011529205.2:c.1087A>T, XM_011529205.1:c.1087A>T, NP_037413.1:p.Thr363Ser, NP_938205.1:p.Thr363Ser, XP_005260739.1:p.Thr363Ser, XP_011527506.1:p.Thr363Ser, XP_011527507.1:p.Thr363Ser

Select item 14865653293.

rs1486565329 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:14327194 (GRCh38)
20:14307840 (GRCh37)
Canonical SPDI:: NC_000020.11:14327193:A:G
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14327194A>G, NC_000020.10:g.14307840A>G, NG_054905.1:g.336695A>G, NG_033913.1:g.15474T>C, NM_013281.4:c.313T>C, NM_013281.3:c.313T>C, NM_198391.3:c.313T>C, NM_198391.2:c.313T>C, XM_005260682.5:c.313T>C, XM_005260682.4:c.313T>C, XM_005260682.3:c.313T>C, XM_005260682.2:c.313T>C, XM_005260682.1:c.313T>C, XM_011529204.3:c.313T>C, XM_011529204.2:c.313T>C, XM_011529204.1:c.313T>C, XM_011529205.3:c.313T>C, XM_011529205.2:c.313T>C, XM_011529205.1:c.313T>C, NP_037413.1:p.Tyr105His, NP_938205.1:p.Tyr105His, XP_005260739.1:p.Tyr105His, XP_011527506.1:p.Tyr105His, XP_011527507.1:p.Tyr105His

Select item 14863688394.

rs1486368839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:14327038 (GRCh38)
20:14307684 (GRCh37)
Canonical SPDI:: NC_000020.11:14327037:G:A,NC_000020.11:14327037:G:T
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.14327038G>A, NC_000020.11:g.14327038G>T, NC_000020.10:g.14307684G>A, NC_000020.10:g.14307684G>T, NG_054905.1:g.336539G>A, NG_054905.1:g.336539G>T, NG_033913.1:g.15630C>T, NG_033913.1:g.15630C>A, NM_013281.4:c.469C>T, NM_013281.4:c.469C>A, NM_013281.3:c.469C>T, NM_013281.3:c.469C>A, NM_198391.3:c.469C>T, NM_198391.3:c.469C>A, NM_198391.2:c.469C>T, NM_198391.2:c.469C>A, XM_005260682.5:c.469C>T, XM_005260682.5:c.469C>A, XM_005260682.4:c.469C>T, XM_005260682.4:c.469C>A, XM_005260682.3:c.469C>T, XM_005260682.3:c.469C>A, XM_005260682.2:c.469C>T, XM_005260682.2:c.469C>A, XM_005260682.1:c.469C>T, XM_005260682.1:c.469C>A, XM_011529204.3:c.469C>T, XM_011529204.3:c.469C>A, XM_011529204.2:c.469C>T, XM_011529204.2:c.469C>A, XM_011529204.1:c.469C>T, XM_011529204.1:c.469C>A, XM_011529205.3:c.469C>T, XM_011529205.3:c.469C>A, XM_011529205.2:c.469C>T, XM_011529205.2:c.469C>A, XM_011529205.1:c.469C>T, XM_011529205.1:c.469C>A, NP_037413.1:p.Arg157Ter, NP_938205.1:p.Arg157Ter, XP_005260739.1:p.Arg157Ter, XP_011527506.1:p.Arg157Ter, XP_011527507.1:p.Arg157Ter

Select item 14849824515.

rs1484982451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:14325903 (GRCh38)
20:14306549 (GRCh37)
Canonical SPDI:: NC_000020.11:14325902:C:A
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/10 (GnomAD_exomes)
A=0.000117/31 (TOPMED)
A=0.000171/24 (GnomAD)
HGVS:: NC_000020.11:g.14325903C>A, NC_000020.10:g.14306549C>A, NG_054905.1:g.335404C>A, NG_033913.1:g.16765G>T, NM_013281.4:c.1604G>T, NM_013281.3:c.1604G>T, NM_198391.3:c.1604G>T, NM_198391.2:c.1604G>T, XM_005260682.5:c.1604G>T, XM_005260682.4:c.1604G>T, XM_005260682.3:c.1604G>T, XM_005260682.2:c.1604G>T, XM_005260682.1:c.1604G>T, XM_011529204.3:c.1604G>T, XM_011529204.2:c.1604G>T, XM_011529204.1:c.1604G>T, XM_011529205.3:c.1604G>T, XM_011529205.2:c.1604G>T, XM_011529205.1:c.1604G>T, NP_037413.1:p.Gly535Val, NP_938205.1:p.Gly535Val, XP_005260739.1:p.Gly535Val, XP_011527506.1:p.Gly535Val, XP_011527507.1:p.Gly535Val

Select item 14804145726.

rs1480414572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:14325797 (GRCh38)
20:14306443 (GRCh37)
Canonical SPDI:: NC_000020.11:14325796:T:A
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.14325797T>A, NC_000020.10:g.14306443T>A, NG_054905.1:g.335298T>A, NG_033913.1:g.16871A>T, NM_013281.4:c.1710A>T, NM_013281.3:c.1710A>T, NM_198391.3:c.1710A>T, NM_198391.2:c.1710A>T, XM_005260682.5:c.1710A>T, XM_005260682.4:c.1710A>T, XM_005260682.3:c.1710A>T, XM_005260682.2:c.1710A>T, XM_005260682.1:c.1710A>T, XM_011529204.3:c.1710A>T, XM_011529204.2:c.1710A>T, XM_011529204.1:c.1710A>T, XM_011529205.3:c.1710A>T, XM_011529205.2:c.1710A>T, XM_011529205.1:c.1710A>T, NP_037413.1:p.Arg570Ser, NP_938205.1:p.Arg570Ser, XP_005260739.1:p.Arg570Ser, XP_011527506.1:p.Arg570Ser, XP_011527507.1:p.Arg570Ser

Select item 14744048887.

rs1474404888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:14325815 (GRCh38)
20:14306461 (GRCh37)
Canonical SPDI:: NC_000020.11:14325814:T:C
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14325815T>C, NC_000020.10:g.14306461T>C, NG_054905.1:g.335316T>C, NG_033913.1:g.16853A>G, NM_013281.4:c.1692A>G, NM_013281.3:c.1692A>G, NM_198391.3:c.1692A>G, NM_198391.2:c.1692A>G, XM_005260682.5:c.1692A>G, XM_005260682.4:c.1692A>G, XM_005260682.3:c.1692A>G, XM_005260682.2:c.1692A>G, XM_005260682.1:c.1692A>G, XM_011529204.3:c.1692A>G, XM_011529204.2:c.1692A>G, XM_011529204.1:c.1692A>G, XM_011529205.3:c.1692A>G, XM_011529205.2:c.1692A>G, XM_011529205.1:c.1692A>G

Select item 14743426588.

rs1474342658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:14326670 (GRCh38)
20:14307316 (GRCh37)
Canonical SPDI:: NC_000020.11:14326669:G:T
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.14326670G>T, NC_000020.10:g.14307316G>T, NG_054905.1:g.336171G>T, NG_033913.1:g.15998C>A, NM_013281.4:c.837C>A, NM_013281.3:c.837C>A, NM_198391.3:c.837C>A, NM_198391.2:c.837C>A, XM_005260682.5:c.837C>A, XM_005260682.4:c.837C>A, XM_005260682.3:c.837C>A, XM_005260682.2:c.837C>A, XM_005260682.1:c.837C>A, XM_011529204.3:c.837C>A, XM_011529204.2:c.837C>A, XM_011529204.1:c.837C>A, XM_011529205.3:c.837C>A, XM_011529205.2:c.837C>A, XM_011529205.1:c.837C>A

Select item 14713938679.

rs1471393867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:14326137 (GRCh38)
20:14306783 (GRCh37)
Canonical SPDI:: NC_000020.11:14326136:A:G
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.14326137A>G, NC_000020.10:g.14306783A>G, NG_054905.1:g.335638A>G, NG_033913.1:g.16531T>C, NM_013281.4:c.1370T>C, NM_013281.3:c.1370T>C, NM_198391.3:c.1370T>C, NM_198391.2:c.1370T>C, XM_005260682.5:c.1370T>C, XM_005260682.4:c.1370T>C, XM_005260682.3:c.1370T>C, XM_005260682.2:c.1370T>C, XM_005260682.1:c.1370T>C, XM_011529204.3:c.1370T>C, XM_011529204.2:c.1370T>C, XM_011529204.1:c.1370T>C, XM_011529205.3:c.1370T>C, XM_011529205.2:c.1370T>C, XM_011529205.1:c.1370T>C, NP_037413.1:p.Val457Ala, NP_938205.1:p.Val457Ala, XP_005260739.1:p.Val457Ala, XP_011527506.1:p.Val457Ala, XP_011527507.1:p.Val457Ala

Select item 147008484610.

rs1470084846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:14325711 (GRCh38)
20:14306357 (GRCh37)
Canonical SPDI:: NC_000020.11:14325710:A:C
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14325711A>C, NC_000020.10:g.14306357A>C, NG_054905.1:g.335212A>C, NG_033913.1:g.16957T>G, NM_013281.4:c.1796T>G, NM_013281.3:c.1796T>G, NM_198391.3:c.1796T>G, NM_198391.2:c.1796T>G, XM_005260682.5:c.1796T>G, XM_005260682.4:c.1796T>G, XM_005260682.3:c.1796T>G, XM_005260682.2:c.1796T>G, XM_005260682.1:c.1796T>G, XM_011529204.3:c.1796T>G, XM_011529204.2:c.1796T>G, XM_011529204.1:c.1796T>G, XM_011529205.3:c.1796T>G, XM_011529205.2:c.1796T>G, XM_011529205.1:c.1796T>G, NP_037413.1:p.Ile599Arg, NP_938205.1:p.Ile599Arg, XP_005260739.1:p.Ile599Arg, XP_011527506.1:p.Ile599Arg, XP_011527507.1:p.Ile599Arg

Select item 146562683011.

rs1465626830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:14326158 (GRCh38)
20:14306804 (GRCh37)
Canonical SPDI:: NC_000020.11:14326157:C:A,NC_000020.11:14326157:C:G
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.14326158C>A, NC_000020.11:g.14326158C>G, NC_000020.10:g.14306804C>A, NC_000020.10:g.14306804C>G, NG_054905.1:g.335659C>A, NG_054905.1:g.335659C>G, NG_033913.1:g.16510G>T, NG_033913.1:g.16510G>C, NM_013281.4:c.1349G>T, NM_013281.4:c.1349G>C, NM_013281.3:c.1349G>T, NM_013281.3:c.1349G>C, NM_198391.3:c.1349G>T, NM_198391.3:c.1349G>C, NM_198391.2:c.1349G>T, NM_198391.2:c.1349G>C, XM_005260682.5:c.1349G>T, XM_005260682.5:c.1349G>C, XM_005260682.4:c.1349G>T, XM_005260682.4:c.1349G>C, XM_005260682.3:c.1349G>T, XM_005260682.3:c.1349G>C, XM_005260682.2:c.1349G>T, XM_005260682.2:c.1349G>C, XM_005260682.1:c.1349G>T, XM_005260682.1:c.1349G>C, XM_011529204.3:c.1349G>T, XM_011529204.3:c.1349G>C, XM_011529204.2:c.1349G>T, XM_011529204.2:c.1349G>C, XM_011529204.1:c.1349G>T, XM_011529204.1:c.1349G>C, XM_011529205.3:c.1349G>T, XM_011529205.3:c.1349G>C, XM_011529205.2:c.1349G>T, XM_011529205.2:c.1349G>C, XM_011529205.1:c.1349G>T, XM_011529205.1:c.1349G>C, NP_037413.1:p.Gly450Val, NP_037413.1:p.Gly450Ala, NP_938205.1:p.Gly450Val, NP_938205.1:p.Gly450Ala, XP_005260739.1:p.Gly450Val, XP_005260739.1:p.Gly450Ala, XP_011527506.1:p.Gly450Val, XP_011527506.1:p.Gly450Ala, XP_011527507.1:p.Gly450Val, XP_011527507.1:p.Gly450Ala

Select item 146312103512.

rs1463121035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:14327413 (GRCh38)
20:14308059 (GRCh37)
Canonical SPDI:: NC_000020.11:14327412:G:A
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.14327413G>A, NC_000020.10:g.14308059G>A, NG_054905.1:g.336914G>A, NG_033913.1:g.15255C>T, NM_013281.4:c.94C>T, NM_013281.3:c.94C>T, NM_198391.3:c.94C>T, NM_198391.2:c.94C>T, XM_005260682.5:c.94C>T, XM_005260682.4:c.94C>T, XM_005260682.3:c.94C>T, XM_005260682.2:c.94C>T, XM_005260682.1:c.94C>T, XM_011529204.3:c.94C>T, XM_011529204.2:c.94C>T, XM_011529204.1:c.94C>T, XM_011529205.3:c.94C>T, XM_011529205.2:c.94C>T, XM_011529205.1:c.94C>T, NP_037413.1:p.Pro32Ser, NP_938205.1:p.Pro32Ser, XP_005260739.1:p.Pro32Ser, XP_011527506.1:p.Pro32Ser, XP_011527507.1:p.Pro32Ser

Select item 146251877013.

rs1462518770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:14326998 (GRCh38)
20:14307644 (GRCh37)
Canonical SPDI:: NC_000020.11:14326997:G:C
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14326998G>C, NC_000020.10:g.14307644G>C, NG_054905.1:g.336499G>C, NG_033913.1:g.15670C>G, NM_013281.4:c.509C>G, NM_013281.3:c.509C>G, NM_198391.3:c.509C>G, NM_198391.2:c.509C>G, XM_005260682.5:c.509C>G, XM_005260682.4:c.509C>G, XM_005260682.3:c.509C>G, XM_005260682.2:c.509C>G, XM_005260682.1:c.509C>G, XM_011529204.3:c.509C>G, XM_011529204.2:c.509C>G, XM_011529204.1:c.509C>G, XM_011529205.3:c.509C>G, XM_011529205.2:c.509C>G, XM_011529205.1:c.509C>G, NP_037413.1:p.Pro170Arg, NP_938205.1:p.Pro170Arg, XP_005260739.1:p.Pro170Arg, XP_011527506.1:p.Pro170Arg, XP_011527507.1:p.Pro170Arg

Select item 146206505014.

rs1462065050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:14327127 (GRCh38)
20:14307773 (GRCh37)
Canonical SPDI:: NC_000020.11:14327126:A:G
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14327127A>G, NC_000020.10:g.14307773A>G, NG_054905.1:g.336628A>G, NG_033913.1:g.15541T>C, NM_013281.4:c.380T>C, NM_013281.3:c.380T>C, NM_198391.3:c.380T>C, NM_198391.2:c.380T>C, XM_005260682.5:c.380T>C, XM_005260682.4:c.380T>C, XM_005260682.3:c.380T>C, XM_005260682.2:c.380T>C, XM_005260682.1:c.380T>C, XM_011529204.3:c.380T>C, XM_011529204.2:c.380T>C, XM_011529204.1:c.380T>C, XM_011529205.3:c.380T>C, XM_011529205.2:c.380T>C, XM_011529205.1:c.380T>C, NP_037413.1:p.Ile127Thr, NP_938205.1:p.Ile127Thr, XP_005260739.1:p.Ile127Thr, XP_011527506.1:p.Ile127Thr, XP_011527507.1:p.Ile127Thr

Select item 146188322515.

rs1461883225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:14325978 (GRCh38)
20:14306624 (GRCh37)
Canonical SPDI:: NC_000020.11:14325977:G:A
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_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_000020.11:g.14325978G>A, NC_000020.10:g.14306624G>A, NG_054905.1:g.335479G>A, NG_033913.1:g.16690C>T, NM_013281.4:c.1529C>T, NM_013281.3:c.1529C>T, NM_198391.3:c.1529C>T, NM_198391.2:c.1529C>T, XM_005260682.5:c.1529C>T, XM_005260682.4:c.1529C>T, XM_005260682.3:c.1529C>T, XM_005260682.2:c.1529C>T, XM_005260682.1:c.1529C>T, XM_011529204.3:c.1529C>T, XM_011529204.2:c.1529C>T, XM_011529204.1:c.1529C>T, XM_011529205.3:c.1529C>T, XM_011529205.2:c.1529C>T, XM_011529205.1:c.1529C>T, NP_037413.1:p.Thr510Ile, NP_938205.1:p.Thr510Ile, XP_005260739.1:p.Thr510Ile, XP_011527506.1:p.Thr510Ile, XP_011527507.1:p.Thr510Ile

Select item 146089084416.

rs1460890844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:14327221 (GRCh38)
20:14307867 (GRCh37)
Canonical SPDI:: NC_000020.11:14327220:C:A,NC_000020.11:14327220:C:T
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.14327221C>A, NC_000020.11:g.14327221C>T, NC_000020.10:g.14307867C>A, NC_000020.10:g.14307867C>T, NG_054905.1:g.336722C>A, NG_054905.1:g.336722C>T, NG_033913.1:g.15447G>T, NG_033913.1:g.15447G>A, NM_013281.4:c.286G>T, NM_013281.4:c.286G>A, NM_013281.3:c.286G>T, NM_013281.3:c.286G>A, NM_198391.3:c.286G>T, NM_198391.3:c.286G>A, NM_198391.2:c.286G>T, NM_198391.2:c.286G>A, XM_005260682.5:c.286G>T, XM_005260682.5:c.286G>A, XM_005260682.4:c.286G>T, XM_005260682.4:c.286G>A, XM_005260682.3:c.286G>T, XM_005260682.3:c.286G>A, XM_005260682.2:c.286G>T, XM_005260682.2:c.286G>A, XM_005260682.1:c.286G>T, XM_005260682.1:c.286G>A, XM_011529204.3:c.286G>T, XM_011529204.3:c.286G>A, XM_011529204.2:c.286G>T, XM_011529204.2:c.286G>A, XM_011529204.1:c.286G>T, XM_011529204.1:c.286G>A, XM_011529205.3:c.286G>T, XM_011529205.3:c.286G>A, XM_011529205.2:c.286G>T, XM_011529205.2:c.286G>A, XM_011529205.1:c.286G>T, XM_011529205.1:c.286G>A, NP_037413.1:p.Asp96Tyr, NP_037413.1:p.Asp96Asn, NP_938205.1:p.Asp96Tyr, NP_938205.1:p.Asp96Asn, XP_005260739.1:p.Asp96Tyr, XP_005260739.1:p.Asp96Asn, XP_011527506.1:p.Asp96Tyr, XP_011527506.1:p.Asp96Asn, XP_011527507.1:p.Asp96Tyr, XP_011527507.1:p.Asp96Asn

Select item 145988049817.

rs1459880498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:14326571 (GRCh38)
20:14307217 (GRCh37)
Canonical SPDI:: NC_000020.11:14326570:C:G,NC_000020.11:14326570:C:T
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14326571C>G, NC_000020.11:g.14326571C>T, NC_000020.10:g.14307217C>G, NC_000020.10:g.14307217C>T, NG_054905.1:g.336072C>G, NG_054905.1:g.336072C>T, NG_033913.1:g.16097G>C, NG_033913.1:g.16097G>A, NM_013281.4:c.936G>C, NM_013281.4:c.936G>A, NM_013281.3:c.936G>C, NM_013281.3:c.936G>A, NM_198391.3:c.936G>C, NM_198391.3:c.936G>A, NM_198391.2:c.936G>C, NM_198391.2:c.936G>A, XM_005260682.5:c.936G>C, XM_005260682.5:c.936G>A, XM_005260682.4:c.936G>C, XM_005260682.4:c.936G>A, XM_005260682.3:c.936G>C, XM_005260682.3:c.936G>A, XM_005260682.2:c.936G>C, XM_005260682.2:c.936G>A, XM_005260682.1:c.936G>C, XM_005260682.1:c.936G>A, XM_011529204.3:c.936G>C, XM_011529204.3:c.936G>A, XM_011529204.2:c.936G>C, XM_011529204.2:c.936G>A, XM_011529204.1:c.936G>C, XM_011529204.1:c.936G>A, XM_011529205.3:c.936G>C, XM_011529205.3:c.936G>A, XM_011529205.2:c.936G>C, XM_011529205.2:c.936G>A, XM_011529205.1:c.936G>C, XM_011529205.1:c.936G>A, NP_037413.1:p.Lys312Asn, NP_938205.1:p.Lys312Asn, XP_005260739.1:p.Lys312Asn, XP_011527506.1:p.Lys312Asn, XP_011527507.1:p.Lys312Asn

Select item 145929080418.

rs1459290804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:14326149 (GRCh38)
20:14306795 (GRCh37)
Canonical SPDI:: NC_000020.11:14326148:G:A
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14326149G>A, NC_000020.10:g.14306795G>A, NG_054905.1:g.335650G>A, NG_033913.1:g.16519C>T, NM_013281.4:c.1358C>T, NM_013281.3:c.1358C>T, NM_198391.3:c.1358C>T, NM_198391.2:c.1358C>T, XM_005260682.5:c.1358C>T, XM_005260682.4:c.1358C>T, XM_005260682.3:c.1358C>T, XM_005260682.2:c.1358C>T, XM_005260682.1:c.1358C>T, XM_011529204.3:c.1358C>T, XM_011529204.2:c.1358C>T, XM_011529204.1:c.1358C>T, XM_011529205.3:c.1358C>T, XM_011529205.2:c.1358C>T, XM_011529205.1:c.1358C>T, NP_037413.1:p.Thr453Ile, NP_938205.1:p.Thr453Ile, XP_005260739.1:p.Thr453Ile, XP_011527506.1:p.Thr453Ile, XP_011527507.1:p.Thr453Ile

Select item 145867748619.

rs1458677486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:14325699 (GRCh38)
20:14306345 (GRCh37)
Canonical SPDI:: NC_000020.11:14325698:G:C,NC_000020.11:14325698:G:T
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14325699G>C, NC_000020.11:g.14325699G>T, NC_000020.10:g.14306345G>C, NC_000020.10:g.14306345G>T, NG_054905.1:g.335200G>C, NG_054905.1:g.335200G>T, NG_033913.1:g.16969C>G, NG_033913.1:g.16969C>A, NM_013281.4:c.1808C>G, NM_013281.4:c.1808C>A, NM_013281.3:c.1808C>G, NM_013281.3:c.1808C>A, NM_198391.3:c.1808C>G, NM_198391.3:c.1808C>A, NM_198391.2:c.1808C>G, NM_198391.2:c.1808C>A, XM_005260682.5:c.1808C>G, XM_005260682.5:c.1808C>A, XM_005260682.4:c.1808C>G, XM_005260682.4:c.1808C>A, XM_005260682.3:c.1808C>G, XM_005260682.3:c.1808C>A, XM_005260682.2:c.1808C>G, XM_005260682.2:c.1808C>A, XM_005260682.1:c.1808C>G, XM_005260682.1:c.1808C>A, XM_011529204.3:c.1808C>G, XM_011529204.3:c.1808C>A, XM_011529204.2:c.1808C>G, XM_011529204.2:c.1808C>A, XM_011529204.1:c.1808C>G, XM_011529204.1:c.1808C>A, XM_011529205.3:c.1808C>G, XM_011529205.3:c.1808C>A, XM_011529205.2:c.1808C>G, XM_011529205.2:c.1808C>A, XM_011529205.1:c.1808C>G, XM_011529205.1:c.1808C>A, NP_037413.1:p.Pro603Arg, NP_037413.1:p.Pro603His, NP_938205.1:p.Pro603Arg, NP_938205.1:p.Pro603His, XP_005260739.1:p.Pro603Arg, XP_005260739.1:p.Pro603His, XP_011527506.1:p.Pro603Arg, XP_011527506.1:p.Pro603His, XP_011527507.1:p.Pro603Arg, XP_011527507.1:p.Pro603His

Select item 145673141420.

rs1456731414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:14327438 (GRCh38)
20:14308084 (GRCh37)
Canonical SPDI:: NC_000020.11:14327437:A:G
Gene:: FLRT3 (Varview), MACROD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.14327438A>G, NC_000020.10:g.14308084A>G, NG_054905.1:g.336939A>G, NG_033913.1:g.15230T>C, NM_013281.4:c.69T>C, NM_013281.3:c.69T>C, NM_198391.3:c.69T>C, NM_198391.2:c.69T>C, XM_005260682.5:c.69T>C, XM_005260682.4:c.69T>C, XM_005260682.3:c.69T>C, XM_005260682.2:c.69T>C, XM_005260682.1:c.69T>C, XM_011529204.3:c.69T>C, XM_011529204.2:c.69T>C, XM_011529204.1:c.69T>C, XM_011529205.3:c.69T>C, XM_011529205.2:c.69T>C, XM_011529205.1:c.69T>C

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 515

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