SNP Links for Protein (Select 154689780) - SNP

Select item 14888357711.

rs1488835771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:50118489 (GRCh38)
14:50585207 (GRCh37)
Canonical SPDI:: NC_000014.9:50118488:G:C
Gene:: SOS2 (Varview), VCPKMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50118489G>C, NC_000014.8:g.50585207G>C, NG_051073.1:g.118205C>G, NM_006939.4:c.3854C>G, NM_006939.3:c.3854C>G, NM_006939.2:c.3854C>G, NM_001411020.1:c.3755C>G, XM_047431713.1:c.4049C>G, XM_047431714.1:c.3995C>G, XM_047431718.1:c.3869C>G, XM_047431715.1:c.3950C>G, XM_047431719.1:c.3815C>G, XM_047431716.1:c.3908C>G, XM_047431717.1:c.3896C>G, XM_047431722.1:c.3728C>G, XM_047431721.1:c.3755C>G, XM_047431723.1:c.3728C>G, NP_008870.2:p.Ala1285Gly, XP_047287669.1:p.Ala1350Gly, XP_047287670.1:p.Ala1332Gly, XP_047287674.1:p.Ala1290Gly, XP_047287671.1:p.Ala1317Gly, XP_047287675.1:p.Ala1272Gly, XP_047287672.1:p.Ala1303Gly, XP_047287673.1:p.Ala1299Gly, XP_047287678.1:p.Ala1243Gly, XP_047287677.1:p.Ala1252Gly, XP_047287679.1:p.Ala1243Gly

Select item 14881581972.

rs1488158197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50157067 (GRCh38)
14:50623785 (GRCh37)
Canonical SPDI:: NC_000014.9:50157066:T:C
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.001092/2 (Korea1K)
HGVS:: NC_000014.9:g.50157067T>C, NC_000014.8:g.50623785T>C, NG_051073.1:g.79627A>G, NM_006939.4:c.1989A>G, NM_006939.3:c.1989A>G, NM_006939.2:c.1989A>G, NM_001411020.1:c.1890A>G, XM_047431713.1:c.2184A>G, XM_047431714.1:c.2130A>G, XM_047431718.1:c.2004A>G, XM_047431715.1:c.2085A>G, XM_047431719.1:c.1950A>G, XM_047431716.1:c.2043A>G, XM_047431717.1:c.2031A>G, XM_047431722.1:c.1863A>G, XM_047431721.1:c.1890A>G, XM_047431723.1:c.1863A>G

Select item 14879338583.

rs1487933858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:50174501 (GRCh38)
14:50641219 (GRCh37)
Canonical SPDI:: NC_000014.9:50174500:T:A
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50174501T>A, NC_000014.8:g.50641219T>A, NG_051073.1:g.62193A>T, NM_006939.4:c.1021A>T, NM_006939.3:c.1021A>T, NM_006939.2:c.1021A>T, XM_047431713.1:c.1216A>T, XM_047431714.1:c.1162A>T, XM_047431718.1:c.1036A>T, XM_047431719.1:c.982A>T, XM_047431716.1:c.1075A>T, XM_047431722.1:c.895A>T, XM_047431723.1:c.895A>T, NP_008870.2:p.Met341Leu, XP_047287669.1:p.Met406Leu, XP_047287670.1:p.Met388Leu, XP_047287674.1:p.Met346Leu, XP_047287675.1:p.Met328Leu, XP_047287672.1:p.Met359Leu, XP_047287678.1:p.Met299Leu, XP_047287679.1:p.Met299Leu

Select item 14861316644.

rs1486131664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50160004 (GRCh38)
14:50626722 (GRCh37)
Canonical SPDI:: NC_000014.9:50160003:T:C
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.50160004T>C, NC_000014.8:g.50626722T>C, NG_051073.1:g.76690A>G, NM_006939.4:c.1279A>G, NM_006939.3:c.1279A>G, NM_006939.2:c.1279A>G, NM_001411020.1:c.1180A>G, XM_047431713.1:c.1474A>G, XM_047431714.1:c.1420A>G, XM_047431718.1:c.1294A>G, XM_047431715.1:c.1375A>G, XM_047431719.1:c.1240A>G, XM_047431716.1:c.1333A>G, XM_047431717.1:c.1321A>G, XM_047431722.1:c.1153A>G, XM_047431721.1:c.1180A>G, XM_047431723.1:c.1153A>G, NP_008870.2:p.Ile427Val, XP_047287669.1:p.Ile492Val, XP_047287670.1:p.Ile474Val, XP_047287674.1:p.Ile432Val, XP_047287671.1:p.Ile459Val, XP_047287675.1:p.Ile414Val, XP_047287672.1:p.Ile445Val, XP_047287673.1:p.Ile441Val, XP_047287678.1:p.Ile385Val, XP_047287677.1:p.Ile394Val, XP_047287679.1:p.Ile385Val

Select item 14860689775.

rs1486068977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:50174485 (GRCh38)
14:50641203 (GRCh37)
Canonical SPDI:: NC_000014.9:50174484:T:G
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50174485T>G, NC_000014.8:g.50641203T>G, NG_051073.1:g.62209A>C, NM_006939.4:c.1037A>C, NM_006939.3:c.1037A>C, NM_006939.2:c.1037A>C, XM_047431713.1:c.1232A>C, XM_047431714.1:c.1178A>C, XM_047431718.1:c.1052A>C, XM_047431719.1:c.998A>C, XM_047431716.1:c.1091A>C, XM_047431722.1:c.911A>C, XM_047431723.1:c.911A>C, NP_008870.2:p.Tyr346Ser, XP_047287669.1:p.Tyr411Ser, XP_047287670.1:p.Tyr393Ser, XP_047287674.1:p.Tyr351Ser, XP_047287675.1:p.Tyr333Ser, XP_047287672.1:p.Tyr364Ser, XP_047287678.1:p.Tyr304Ser, XP_047287679.1:p.Tyr304Ser

Select item 14860148916.

rs1486014891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50159839 (GRCh38)
14:50626557 (GRCh37)
Canonical SPDI:: NC_000014.9:50159838:T:C
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50159839T>C, NC_000014.8:g.50626557T>C, NG_051073.1:g.76855A>G, NM_006939.4:c.1444A>G, NM_006939.3:c.1444A>G, NM_006939.2:c.1444A>G, NM_001411020.1:c.1345A>G, XM_047431713.1:c.1639A>G, XM_047431714.1:c.1585A>G, XM_047431718.1:c.1459A>G, XM_047431715.1:c.1540A>G, XM_047431719.1:c.1405A>G, XM_047431716.1:c.1498A>G, XM_047431717.1:c.1486A>G, XM_047431722.1:c.1318A>G, XM_047431721.1:c.1345A>G, XM_047431723.1:c.1318A>G, NP_008870.2:p.Ser482Gly, XP_047287669.1:p.Ser547Gly, XP_047287670.1:p.Ser529Gly, XP_047287674.1:p.Ser487Gly, XP_047287671.1:p.Ser514Gly, XP_047287675.1:p.Ser469Gly, XP_047287672.1:p.Ser500Gly, XP_047287673.1:p.Ser496Gly, XP_047287678.1:p.Ser440Gly, XP_047287677.1:p.Ser449Gly, XP_047287679.1:p.Ser440Gly

Select item 14845916627.

rs1484591662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:50159684 (GRCh38)
14:50626402 (GRCh37)
Canonical SPDI:: NC_000014.9:50159683:G:A,NC_000014.9:50159683:G:T
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50159684G>A, NC_000014.9:g.50159684G>T, NC_000014.8:g.50626402G>A, NC_000014.8:g.50626402G>T, NG_051073.1:g.77010C>T, NG_051073.1:g.77010C>A, NM_006939.4:c.1599C>T, NM_006939.4:c.1599C>A, NM_006939.3:c.1599C>T, NM_006939.3:c.1599C>A, NM_006939.2:c.1599C>T, NM_006939.2:c.1599C>A, NM_001411020.1:c.1500C>T, NM_001411020.1:c.1500C>A, XM_047431713.1:c.1794C>T, XM_047431713.1:c.1794C>A, XM_047431714.1:c.1740C>T, XM_047431714.1:c.1740C>A, XM_047431718.1:c.1614C>T, XM_047431718.1:c.1614C>A, XM_047431715.1:c.1695C>T, XM_047431715.1:c.1695C>A, XM_047431719.1:c.1560C>T, XM_047431719.1:c.1560C>A, XM_047431716.1:c.1653C>T, XM_047431716.1:c.1653C>A, XM_047431717.1:c.1641C>T, XM_047431717.1:c.1641C>A, XM_047431722.1:c.1473C>T, XM_047431722.1:c.1473C>A, XM_047431721.1:c.1500C>T, XM_047431721.1:c.1500C>A, XM_047431723.1:c.1473C>T, XM_047431723.1:c.1473C>A, NP_008870.2:p.Asn533Lys, XP_047287669.1:p.Asn598Lys, XP_047287670.1:p.Asn580Lys, XP_047287674.1:p.Asn538Lys, XP_047287671.1:p.Asn565Lys, XP_047287675.1:p.Asn520Lys, XP_047287672.1:p.Asn551Lys, XP_047287673.1:p.Asn547Lys, XP_047287678.1:p.Asn491Lys, XP_047287677.1:p.Asn500Lys, XP_047287679.1:p.Asn491Lys

Select item 14822597218.

rs1482259721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:50138772 (GRCh38)
14:50605490 (GRCh37)
Canonical SPDI:: NC_000014.9:50138771:G:T
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000061/8 (GnomAD_exomes)
T=0.019178/56 (KOREAN)
HGVS:: NC_000014.9:g.50138772G>T, NC_000014.8:g.50605490G>T, NG_051073.1:g.97922C>A, NM_006939.4:c.2798C>A, NM_006939.3:c.2798C>A, NM_006939.2:c.2798C>A, NM_001411020.1:c.2699C>A, XM_047431713.1:c.2993C>A, XM_047431714.1:c.2939C>A, XM_047431718.1:c.2813C>A, XM_047431715.1:c.2894C>A, XM_047431719.1:c.2759C>A, XM_047431716.1:c.2852C>A, XM_047431717.1:c.2840C>A, XM_047431722.1:c.2672C>A, XM_047431721.1:c.2699C>A, XM_047431723.1:c.2672C>A, NP_008870.2:p.Thr933Lys, XP_047287669.1:p.Thr998Lys, XP_047287670.1:p.Thr980Lys, XP_047287674.1:p.Thr938Lys, XP_047287671.1:p.Thr965Lys, XP_047287675.1:p.Thr920Lys, XP_047287672.1:p.Thr951Lys, XP_047287673.1:p.Thr947Lys, XP_047287678.1:p.Thr891Lys, XP_047287677.1:p.Thr900Lys, XP_047287679.1:p.Thr891Lys

Select item 14806588429.

rs1480658842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:50120337 (GRCh38)
14:50587055 (GRCh37)
Canonical SPDI:: NC_000014.9:50120336:G:A
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.50120337G>A, NC_000014.8:g.50587055G>A, NG_051073.1:g.116357C>T, NM_006939.4:c.3427C>T, NM_006939.3:c.3427C>T, NM_006939.2:c.3427C>T, NM_001411020.1:c.3328C>T, XM_047431713.1:c.3622C>T, XM_047431714.1:c.3568C>T, XM_047431718.1:c.3442C>T, XM_047431715.1:c.3523C>T, XM_047431719.1:c.3388C>T, XM_047431716.1:c.3481C>T, XM_047431717.1:c.3469C>T, XM_047431722.1:c.3301C>T, XM_047431721.1:c.3328C>T, XM_047431723.1:c.3301C>T, NP_008870.2:p.Pro1143Ser, XP_047287669.1:p.Pro1208Ser, XP_047287670.1:p.Pro1190Ser, XP_047287674.1:p.Pro1148Ser, XP_047287671.1:p.Pro1175Ser, XP_047287675.1:p.Pro1130Ser, XP_047287672.1:p.Pro1161Ser, XP_047287673.1:p.Pro1157Ser, XP_047287678.1:p.Pro1101Ser, XP_047287677.1:p.Pro1110Ser, XP_047287679.1:p.Pro1101Ser

Select item 147871262310.

rs1478712623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50159436 (GRCh38)
14:50626154 (GRCh37)
Canonical SPDI:: NC_000014.9:50159435:T:C
Gene:: SOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.50159436T>C, NC_000014.8:g.50626154T>C, NG_051073.1:g.77258A>G, NM_006939.4:c.1847A>G, NM_006939.3:c.1847A>G, NM_006939.2:c.1847A>G, NM_001411020.1:c.1748A>G, XM_047431713.1:c.2042A>G, XM_047431714.1:c.1988A>G, XM_047431718.1:c.1862A>G, XM_047431715.1:c.1943A>G, XM_047431719.1:c.1808A>G, XM_047431716.1:c.1901A>G, XM_047431717.1:c.1889A>G, XM_047431722.1:c.1721A>G, XM_047431721.1:c.1748A>G, XM_047431723.1:c.1721A>G, NP_008870.2:p.Tyr616Cys, XP_047287669.1:p.Tyr681Cys, XP_047287670.1:p.Tyr663Cys, XP_047287674.1:p.Tyr621Cys, XP_047287671.1:p.Tyr648Cys, XP_047287675.1:p.Tyr603Cys, XP_047287672.1:p.Tyr634Cys, XP_047287673.1:p.Tyr630Cys, XP_047287678.1:p.Tyr574Cys, XP_047287677.1:p.Tyr583Cys, XP_047287679.1:p.Tyr574Cys

Select item 147727873411.

rs1477278734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50180647 (GRCh38)
14:50647365 (GRCh37)
Canonical SPDI:: NC_000014.9:50180646:C:T
Gene:: SOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50180647C>T, NC_000014.8:g.50647365C>T, NG_051073.1:g.56047G>A, NM_006939.4:c.894G>A, NM_006939.3:c.894G>A, NM_006939.2:c.894G>A, NM_001411020.1:c.894G>A, XM_047431713.1:c.1089G>A, XM_047431714.1:c.1035G>A, XM_047431718.1:c.909G>A, XM_047431715.1:c.1089G>A, XM_047431719.1:c.855G>A, XM_047431716.1:c.948G>A, XM_047431717.1:c.1035G>A, XM_047431722.1:c.768G>A, XM_047431721.1:c.894G>A, XM_047431723.1:c.768G>A

Select item 147662377912.

rs1476623779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50159967 (GRCh38)
14:50626685 (GRCh37)
Canonical SPDI:: NC_000014.9:50159966:C:T
Gene:: SOS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50159967C>T, NC_000014.8:g.50626685C>T, NG_051073.1:g.76727G>A, NM_006939.4:c.1316G>A, NM_006939.3:c.1316G>A, NM_006939.2:c.1316G>A, NM_001411020.1:c.1217G>A, XM_047431713.1:c.1511G>A, XM_047431714.1:c.1457G>A, XM_047431718.1:c.1331G>A, XM_047431715.1:c.1412G>A, XM_047431719.1:c.1277G>A, XM_047431716.1:c.1370G>A, XM_047431717.1:c.1358G>A, XM_047431722.1:c.1190G>A, XM_047431721.1:c.1217G>A, XM_047431723.1:c.1190G>A, NP_008870.2:p.Cys439Tyr, XP_047287669.1:p.Cys504Tyr, XP_047287670.1:p.Cys486Tyr, XP_047287674.1:p.Cys444Tyr, XP_047287671.1:p.Cys471Tyr, XP_047287675.1:p.Cys426Tyr, XP_047287672.1:p.Cys457Tyr, XP_047287673.1:p.Cys453Tyr, XP_047287678.1:p.Cys397Tyr, XP_047287677.1:p.Cys406Tyr, XP_047287679.1:p.Cys397Tyr

Select item 147553644513.

rs1475536445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50159996 (GRCh38)
14:50626714 (GRCh37)
Canonical SPDI:: NC_000014.9:50159995:T:C
Gene:: SOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50159996T>C, NC_000014.8:g.50626714T>C, NG_051073.1:g.76698A>G, NM_006939.4:c.1287A>G, NM_006939.3:c.1287A>G, NM_006939.2:c.1287A>G, NM_001411020.1:c.1188A>G, XM_047431713.1:c.1482A>G, XM_047431714.1:c.1428A>G, XM_047431718.1:c.1302A>G, XM_047431715.1:c.1383A>G, XM_047431719.1:c.1248A>G, XM_047431716.1:c.1341A>G, XM_047431717.1:c.1329A>G, XM_047431722.1:c.1161A>G, XM_047431721.1:c.1188A>G, XM_047431723.1:c.1161A>G

Select item 147553441914.

rs1475534419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:50201081 (GRCh38)
14:50667799 (GRCh37)
Canonical SPDI:: NC_000014.9:50201080:G:A
Gene:: SOS2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50201081G>A, NC_000014.8:g.50667799G>A, NG_051073.1:g.35613C>T, NM_006939.4:c.217C>T, NM_006939.3:c.217C>T, NM_006939.2:c.217C>T, NM_001411020.1:c.217C>T, XM_047431713.1:c.358C>T, XM_047431714.1:c.358C>T, XM_047431718.1:c.178C>T, XM_047431715.1:c.358C>T, XM_047431719.1:c.178C>T, XM_047431716.1:c.217C>T, XM_047431717.1:c.358C>T, XM_047431722.1:c.37C>T, XM_047431721.1:c.217C>T, XM_047431723.1:c.37C>T, NP_008870.2:p.Arg73Ter, XP_047287669.1:p.Arg120Ter, XP_047287670.1:p.Arg120Ter, XP_047287674.1:p.Arg60Ter, XP_047287671.1:p.Arg120Ter, XP_047287675.1:p.Arg60Ter, XP_047287672.1:p.Arg73Ter, XP_047287673.1:p.Arg120Ter, XP_047287678.1:p.Arg13Ter, XP_047287677.1:p.Arg73Ter, XP_047287679.1:p.Arg13Ter

Select item 147448203415.

rs1474482034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50159819 (GRCh38)
14:50626537 (GRCh37)
Canonical SPDI:: NC_000014.9:50159818:T:C
Gene:: SOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.50159819T>C, NC_000014.8:g.50626537T>C, NG_051073.1:g.76875A>G, NM_006939.4:c.1464A>G, NM_006939.3:c.1464A>G, NM_006939.2:c.1464A>G, NM_001411020.1:c.1365A>G, XM_047431713.1:c.1659A>G, XM_047431714.1:c.1605A>G, XM_047431718.1:c.1479A>G, XM_047431715.1:c.1560A>G, XM_047431719.1:c.1425A>G, XM_047431716.1:c.1518A>G, XM_047431717.1:c.1506A>G, XM_047431722.1:c.1338A>G, XM_047431721.1:c.1365A>G, XM_047431723.1:c.1338A>G

Select item 147335373916.

rs1473353739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:50157061 (GRCh38)
14:50623779 (GRCh37)
Canonical SPDI:: NC_000014.9:50157060:C:G,NC_000014.9:50157060:C:T
Gene:: SOS2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_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=0.000008/2 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.50157061C>G, NC_000014.9:g.50157061C>T, NC_000014.8:g.50623779C>G, NC_000014.8:g.50623779C>T, NG_051073.1:g.79633G>C, NG_051073.1:g.79633G>A, NM_006939.4:c.1995G>C, NM_006939.4:c.1995G>A, NM_006939.3:c.1995G>C, NM_006939.3:c.1995G>A, NM_006939.2:c.1995G>C, NM_006939.2:c.1995G>A, NM_001411020.1:c.1896G>C, NM_001411020.1:c.1896G>A, XM_047431713.1:c.2190G>C, XM_047431713.1:c.2190G>A, XM_047431714.1:c.2136G>C, XM_047431714.1:c.2136G>A, XM_047431718.1:c.2010G>C, XM_047431718.1:c.2010G>A, XM_047431715.1:c.2091G>C, XM_047431715.1:c.2091G>A, XM_047431719.1:c.1956G>C, XM_047431719.1:c.1956G>A, XM_047431716.1:c.2049G>C, XM_047431716.1:c.2049G>A, XM_047431717.1:c.2037G>C, XM_047431717.1:c.2037G>A, XM_047431722.1:c.1869G>C, XM_047431722.1:c.1869G>A, XM_047431721.1:c.1896G>C, XM_047431721.1:c.1896G>A, XM_047431723.1:c.1869G>C, XM_047431723.1:c.1869G>A, NP_008870.2:p.Glu665Asp, XP_047287669.1:p.Glu730Asp, XP_047287670.1:p.Glu712Asp, XP_047287674.1:p.Glu670Asp, XP_047287671.1:p.Glu697Asp, XP_047287675.1:p.Glu652Asp, XP_047287672.1:p.Glu683Asp, XP_047287673.1:p.Glu679Asp, XP_047287678.1:p.Glu623Asp, XP_047287677.1:p.Glu632Asp, XP_047287679.1:p.Glu623Asp

Select item 147332205017.

rs1473322050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:50145511 (GRCh38)
14:50612229 (GRCh37)
Canonical SPDI:: NC_000014.9:50145510:G:A
Gene:: SOS2 (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=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.50145511G>A, NC_000014.8:g.50612229G>A, NG_051073.1:g.91183C>T, NM_006939.4:c.2470C>T, NM_006939.3:c.2470C>T, NM_006939.2:c.2470C>T, NM_001411020.1:c.2371C>T, XM_047431713.1:c.2665C>T, XM_047431714.1:c.2611C>T, XM_047431718.1:c.2485C>T, XM_047431715.1:c.2566C>T, XM_047431719.1:c.2431C>T, XM_047431716.1:c.2524C>T, XM_047431717.1:c.2512C>T, XM_047431722.1:c.2344C>T, XM_047431721.1:c.2371C>T, XM_047431723.1:c.2344C>T, NP_008870.2:p.Arg824Cys, XP_047287669.1:p.Arg889Cys, XP_047287670.1:p.Arg871Cys, XP_047287674.1:p.Arg829Cys, XP_047287671.1:p.Arg856Cys, XP_047287675.1:p.Arg811Cys, XP_047287672.1:p.Arg842Cys, XP_047287673.1:p.Arg838Cys, XP_047287678.1:p.Arg782Cys, XP_047287677.1:p.Arg791Cys, XP_047287679.1:p.Arg782Cys

Select item 147253713018.

rs1472537130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50160079 (GRCh38)
14:50626797 (GRCh37)
Canonical SPDI:: NC_000014.9:50160078:C:T
Gene:: SOS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50160079C>T, NC_000014.8:g.50626797C>T, NG_051073.1:g.76615G>A, NM_006939.4:c.1204G>A, NM_006939.3:c.1204G>A, NM_006939.2:c.1204G>A, NM_001411020.1:c.1105G>A, XM_047431713.1:c.1399G>A, XM_047431714.1:c.1345G>A, XM_047431718.1:c.1219G>A, XM_047431715.1:c.1300G>A, XM_047431719.1:c.1165G>A, XM_047431716.1:c.1258G>A, XM_047431717.1:c.1246G>A, XM_047431722.1:c.1078G>A, XM_047431721.1:c.1105G>A, XM_047431723.1:c.1078G>A, NP_008870.2:p.Val402Ile, XP_047287669.1:p.Val467Ile, XP_047287670.1:p.Val449Ile, XP_047287674.1:p.Val407Ile, XP_047287671.1:p.Val434Ile, XP_047287675.1:p.Val389Ile, XP_047287672.1:p.Val420Ile, XP_047287673.1:p.Val416Ile, XP_047287678.1:p.Val360Ile, XP_047287677.1:p.Val369Ile, XP_047287679.1:p.Val360Ile

Select item 147124534019.

rs1471245340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50118621 (GRCh38)
14:50585339 (GRCh37)
Canonical SPDI:: NC_000014.9:50118620:T:C
Gene:: SOS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50118621T>C, NC_000014.8:g.50585339T>C, NG_051073.1:g.118073A>G, NM_006939.4:c.3722A>G, NM_006939.3:c.3722A>G, NM_006939.2:c.3722A>G, NM_001411020.1:c.3623A>G, XM_047431713.1:c.3917A>G, XM_047431714.1:c.3863A>G, XM_047431718.1:c.3737A>G, XM_047431715.1:c.3818A>G, XM_047431719.1:c.3683A>G, XM_047431716.1:c.3776A>G, XM_047431717.1:c.3764A>G, XM_047431722.1:c.3596A>G, XM_047431721.1:c.3623A>G, XM_047431723.1:c.3596A>G, NP_008870.2:p.His1241Arg, XP_047287669.1:p.His1306Arg, XP_047287670.1:p.His1288Arg, XP_047287674.1:p.His1246Arg, XP_047287671.1:p.His1273Arg, XP_047287675.1:p.His1228Arg, XP_047287672.1:p.His1259Arg, XP_047287673.1:p.His1255Arg, XP_047287678.1:p.His1199Arg, XP_047287677.1:p.His1208Arg, XP_047287679.1:p.His1199Arg

Select item 147027050720.

rs1470270507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50130594 (GRCh38)
14:50597312 (GRCh37)
Canonical SPDI:: NC_000014.9:50130593:C:T
Gene:: SOS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50130594C>T, NC_000014.8:g.50597312C>T, NG_051073.1:g.106100G>A, NM_006939.4:c.3244G>A, NM_006939.3:c.3244G>A, NM_006939.2:c.3244G>A, NM_001411020.1:c.3145G>A, XM_047431713.1:c.3439G>A, XM_047431714.1:c.3385G>A, XM_047431718.1:c.3259G>A, XM_047431715.1:c.3340G>A, XM_047431719.1:c.3205G>A, XM_047431716.1:c.3298G>A, XM_047431717.1:c.3286G>A, XM_047431722.1:c.3118G>A, XM_047431721.1:c.3145G>A, XM_047431723.1:c.3118G>A, NP_008870.2:p.Ala1082Thr, XP_047287669.1:p.Ala1147Thr, XP_047287670.1:p.Ala1129Thr, XP_047287674.1:p.Ala1087Thr, XP_047287671.1:p.Ala1114Thr, XP_047287675.1:p.Ala1069Thr, XP_047287672.1:p.Ala1100Thr, XP_047287673.1:p.Ala1096Thr, XP_047287678.1:p.Ala1040Thr, XP_047287677.1:p.Ala1049Thr, XP_047287679.1:p.Ala1040Thr

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