SNP Links for Protein (Select 268370293) - SNP

Select item 14901126271.

rs1490112627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30920685 (GRCh38)
6:30888462 (GRCh37)
Canonical SPDI:: NC_000006.12:30920684:T:C
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30920685T>C, NC_000006.11:g.30888462T>C, NG_034224.1:g.11478T>C, NM_020442.6:c.1415T>C, NM_020442.5:c.1415T>C, NM_020442.4:c.1415T>C, NM_001167733.3:c.995T>C, NM_001167733.2:c.995T>C, NM_001167733.1:c.995T>C, NM_001167734.2:c.1505T>C, NM_001167734.1:c.1505T>C, NT_113891.3:g.2400283T>C, NT_113891.2:g.2400389T>C, NT_167246.2:g.2230923T>C, NT_167246.1:g.2236543T>C, NT_167245.2:g.2177004T>C, NT_167245.1:g.2182589T>C, NT_167248.2:g.2175857T>C, NT_167248.1:g.2181453T>C, NT_167247.2:g.2264836T>C, NT_167247.1:g.2270421T>C, NP_065175.4:p.Ile472Thr, NP_001161205.1:p.Ile332Thr, NP_001161206.1:p.Ile502Thr

Select item 14894189812.

rs1489418981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30915834 (GRCh38)
6:30883611 (GRCh37)
Canonical SPDI:: NC_000006.12:30915833:T:G
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30915834T>G, NC_000006.11:g.30883611T>G, NG_034224.1:g.6627T>G, NM_020442.6:c.473T>G, NM_020442.5:c.473T>G, NM_020442.4:c.473T>G, NM_001167733.3:c.53T>G, NM_001167733.2:c.53T>G, NM_001167733.1:c.53T>G, NM_001167734.2:c.563T>G, NM_001167734.1:c.563T>G, NT_113891.3:g.2395580T>G, NT_113891.2:g.2395686T>G, NT_167246.2:g.2226070T>G, NT_167246.1:g.2231690T>G, NT_167245.2:g.2172138T>G, NT_167245.1:g.2177723T>G, NT_167248.2:g.2171000T>G, NT_167248.1:g.2176596T>G, NT_167247.2:g.2259981T>G, NT_167247.1:g.2265566T>G, NP_065175.4:p.Leu158Arg, NP_001161205.1:p.Leu18Arg, NP_001161206.1:p.Leu188Arg

Select item 14885141613.

rs1488514161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30920381 (GRCh38)
6:30888158 (GRCh37)
Canonical SPDI:: NC_000006.12:30920380:G:A
Gene:: VARS2 (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_000006.12:g.30920381G>A, NC_000006.11:g.30888158G>A, NG_034224.1:g.11174G>A, NM_020442.6:c.1342G>A, NM_020442.5:c.1342G>A, NM_020442.4:c.1342G>A, NM_001167733.3:c.922G>A, NM_001167733.2:c.922G>A, NM_001167733.1:c.922G>A, NM_001167734.2:c.1432G>A, NM_001167734.1:c.1432G>A, NT_113891.3:g.2399979G>A, NT_113891.2:g.2400085G>A, NT_167246.2:g.2230619G>A, NT_167246.1:g.2236239G>A, NT_167245.2:g.2176700G>A, NT_167245.1:g.2182285G>A, NT_167248.2:g.2175553G>A, NT_167248.1:g.2181149G>A, NT_167247.2:g.2264532G>A, NT_167247.1:g.2270117G>A, NP_065175.4:p.Glu448Lys, NP_001161205.1:p.Glu308Lys, NP_001161206.1:p.Glu478Lys

Select item 14883708944.

rs1488370894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30920149 (GRCh38)
6:30887926 (GRCh37)
Canonical SPDI:: NC_000006.12:30920148:G:A
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30920149G>A, NC_000006.11:g.30887926G>A, NG_034224.1:g.10942G>A, NM_020442.6:c.1226G>A, NM_020442.5:c.1226G>A, NM_020442.4:c.1226G>A, NM_001167733.3:c.806G>A, NM_001167733.2:c.806G>A, NM_001167733.1:c.806G>A, NM_001167734.2:c.1316G>A, NM_001167734.1:c.1316G>A, NT_113891.3:g.2399747G>A, NT_113891.2:g.2399853G>A, NT_167246.2:g.2230387G>A, NT_167246.1:g.2236007G>A, NT_167245.2:g.2176468G>A, NT_167245.1:g.2182053G>A, NT_167248.2:g.2175321G>A, NT_167248.1:g.2180917G>A, NT_167247.2:g.2264300G>A, NT_167247.1:g.2269885G>A, NP_065175.4:p.Gly409Asp, NP_001161205.1:p.Gly269Asp, NP_001161206.1:p.Gly439Asp

Select item 14877575275.

rs1487757527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30922468 (GRCh38)
6:30890245 (GRCh37)
Canonical SPDI:: NC_000006.12:30922467:G:T
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30922468G>T, NC_000006.11:g.30890245G>T, NG_034224.1:g.13261G>T, NM_020442.6:c.1951G>T, NM_020442.5:c.1951G>T, NM_020442.4:c.1951G>T, NM_001167733.3:c.1531G>T, NM_001167733.2:c.1531G>T, NM_001167733.1:c.1531G>T, NM_001167734.2:c.2041G>T, NM_001167734.1:c.2041G>T, NT_113891.3:g.2402066G>T, NT_113891.2:g.2402172G>T, NT_167246.2:g.2232706G>T, NT_167246.1:g.2238326G>T, NT_167245.2:g.2178787G>T, NT_167245.1:g.2184372G>T, NT_167248.2:g.2177640G>T, NT_167248.1:g.2183236G>T, NT_167247.2:g.2266619G>T, NT_167247.1:g.2272204G>T, NP_065175.4:p.Val651Phe, NP_001161205.1:p.Val511Phe, NP_001161206.1:p.Val681Phe

Select item 14873903066.

rs1487390306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30920678 (GRCh38)
6:30888455 (GRCh37)
Canonical SPDI:: NC_000006.12:30920677:G:A
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30920678G>A, NC_000006.11:g.30888455G>A, NG_034224.1:g.11471G>A, NM_020442.6:c.1408G>A, NM_020442.5:c.1408G>A, NM_020442.4:c.1408G>A, NM_001167733.3:c.988G>A, NM_001167733.2:c.988G>A, NM_001167733.1:c.988G>A, NM_001167734.2:c.1498G>A, NM_001167734.1:c.1498G>A, NT_113891.3:g.2400276G>A, NT_113891.2:g.2400382G>A, NT_167246.2:g.2230916G>A, NT_167246.1:g.2236536G>A, NT_167245.2:g.2176997G>A, NT_167245.1:g.2182582G>A, NT_167248.2:g.2175850G>A, NT_167248.1:g.2181446G>A, NT_167247.2:g.2264829G>A, NT_167247.1:g.2270414G>A, NP_065175.4:p.Asp470Asn, NP_001161205.1:p.Asp330Asn, NP_001161206.1:p.Asp500Asn

Select item 14862337467.

rs1486233746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30923145 (GRCh38)
6:30890922 (GRCh37)
Canonical SPDI:: NC_000006.12:30923144:C:T
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30923145C>T, NC_000006.11:g.30890922C>T, NG_034224.1:g.13938C>T, NM_020442.6:c.2227C>T, NM_020442.5:c.2227C>T, NM_020442.4:c.2227C>T, NM_001167733.3:c.1807C>T, NM_001167733.2:c.1807C>T, NM_001167733.1:c.1807C>T, NM_001167734.2:c.2317C>T, NM_001167734.1:c.2317C>T, NT_113891.3:g.2402743C>T, NT_113891.2:g.2402849C>T, NT_167246.2:g.2233383C>T, NT_167246.1:g.2239003C>T, NT_167245.2:g.2179464C>T, NT_167245.1:g.2185049C>T, NT_167248.2:g.2178317C>T, NT_167248.1:g.2183913C>T, NT_167247.2:g.2267296C>T, NT_167247.1:g.2272881C>T, NP_065175.4:p.Arg743Ter, NP_001161205.1:p.Arg603Ter, NP_001161206.1:p.Arg773Ter

Select item 14852830198.

rs1485283019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30918904 (GRCh38)
6:30886681 (GRCh37)
Canonical SPDI:: NC_000006.12:30918903:T:C
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.30918904T>C, NC_000006.11:g.30886681T>C, NG_034224.1:g.9697T>C, NM_020442.6:c.1063T>C, NM_020442.5:c.1063T>C, NM_020442.4:c.1063T>C, NM_001167733.3:c.643T>C, NM_001167733.2:c.643T>C, NM_001167733.1:c.643T>C, NM_001167734.2:c.1153T>C, NM_001167734.1:c.1153T>C, NT_113891.3:g.2398502T>C, NT_113891.2:g.2398608T>C, NT_167246.2:g.2229142T>C, NT_167246.1:g.2234762T>C, NT_167245.2:g.2175206T>C, NT_167245.1:g.2180791T>C, NT_167248.2:g.2174059T>C, NT_167248.1:g.2179655T>C, NT_167247.2:g.2263038T>C, NT_167247.1:g.2268623T>C, NP_065175.4:p.Ser355Pro, NP_001161205.1:p.Ser215Pro, NP_001161206.1:p.Ser385Pro

Select item 14847654709.

rs1484765470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30920191 (GRCh38)
6:30887968 (GRCh37)
Canonical SPDI:: NC_000006.12:30920190:C:T
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30920191C>T, NC_000006.11:g.30887968C>T, NG_034224.1:g.10984C>T, NM_020442.6:c.1268C>T, NM_020442.5:c.1268C>T, NM_020442.4:c.1268C>T, NM_001167733.3:c.848C>T, NM_001167733.2:c.848C>T, NM_001167733.1:c.848C>T, NM_001167734.2:c.1358C>T, NM_001167734.1:c.1358C>T, NT_113891.3:g.2399789C>T, NT_113891.2:g.2399895C>T, NT_167246.2:g.2230429C>T, NT_167246.1:g.2236049C>T, NT_167245.2:g.2176510C>T, NT_167245.1:g.2182095C>T, NT_167248.2:g.2175363C>T, NT_167248.1:g.2180959C>T, NT_167247.2:g.2264342C>T, NT_167247.1:g.2269927C>T, NP_065175.4:p.Thr423Ile, NP_001161205.1:p.Thr283Ile, NP_001161206.1:p.Thr453Ile

Select item 148432615110.

rs1484326151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30921679 (GRCh38)
6:30889456 (GRCh37)
Canonical SPDI:: NC_000006.12:30921678:A:G
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30921679A>G, NC_000006.11:g.30889456A>G, NG_034224.1:g.12472A>G, NM_020442.6:c.1723A>G, NM_020442.5:c.1723A>G, NM_020442.4:c.1723A>G, NM_001167733.3:c.1303A>G, NM_001167733.2:c.1303A>G, NM_001167733.1:c.1303A>G, NM_001167734.2:c.1813A>G, NM_001167734.1:c.1813A>G, NT_113891.3:g.2401277A>G, NT_113891.2:g.2401383A>G, NT_167246.2:g.2231917A>G, NT_167246.1:g.2237537A>G, NT_167245.2:g.2177998A>G, NT_167245.1:g.2183583A>G, NT_167248.2:g.2176851A>G, NT_167248.1:g.2182447A>G, NT_167247.2:g.2265830A>G, NT_167247.1:g.2271415A>G, NP_065175.4:p.Thr575Ala, NP_001161205.1:p.Thr435Ala, NP_001161206.1:p.Thr605Ala

Select item 148420528611.

rs1484205286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:30925611 (GRCh38)
6:30893388 (GRCh37)
Canonical SPDI:: NC_000006.12:30925610:C:G,NC_000006.12:30925610:C:T
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30925611C>G, NC_000006.12:g.30925611C>T, NC_000006.11:g.30893388C>G, NC_000006.11:g.30893388C>T, NG_034224.1:g.16404C>G, NG_034224.1:g.16404C>T, NM_020442.6:c.2853C>G, NM_020442.6:c.2853C>T, NM_020442.5:c.2853C>G, NM_020442.5:c.2853C>T, NM_020442.4:c.2853C>G, NM_020442.4:c.2853C>T, NM_001167733.3:c.2433C>G, NM_001167733.3:c.2433C>T, NM_001167733.2:c.2433C>G, NM_001167733.2:c.2433C>T, NM_001167733.1:c.2433C>G, NM_001167733.1:c.2433C>T, NM_001167734.2:c.2943C>G, NM_001167734.2:c.2943C>T, NM_001167734.1:c.2943C>G, NM_001167734.1:c.2943C>T, NT_113891.3:g.2405209C>G, NT_113891.3:g.2405209C>T, NT_113891.2:g.2405315C>G, NT_113891.2:g.2405315C>T, NT_167246.2:g.2235849C>G, NT_167246.2:g.2235849C>T, NT_167246.1:g.2241469C>G, NT_167246.1:g.2241469C>T, NT_167245.2:g.2181929C>G, NT_167245.2:g.2181929C>T, NT_167245.1:g.2187514C>G, NT_167245.1:g.2187514C>T, NT_167248.2:g.2180788C>G, NT_167248.2:g.2180788C>T, NT_167248.1:g.2186384C>G, NT_167248.1:g.2186384C>T, NT_167247.2:g.2269767C>G, NT_167247.2:g.2269767C>T, NT_167247.1:g.2275352C>G, NT_167247.1:g.2275352C>T

Select item 148334888312.

rs1483348883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30921121 (GRCh38)
6:30888898 (GRCh37)
Canonical SPDI:: NC_000006.12:30921120:G:A
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30921121G>A, NC_000006.11:g.30888898G>A, NG_034224.1:g.11914G>A, NM_020442.6:c.1536G>A, NM_020442.5:c.1536G>A, NM_020442.4:c.1536G>A, NM_001167733.3:c.1116G>A, NM_001167733.2:c.1116G>A, NM_001167733.1:c.1116G>A, NM_001167734.2:c.1626G>A, NM_001167734.1:c.1626G>A, NT_113891.3:g.2400719G>A, NT_113891.2:g.2400825G>A, NT_167246.2:g.2231359G>A, NT_167246.1:g.2236979G>A, NT_167245.2:g.2177440G>A, NT_167245.1:g.2183025G>A, NT_167248.2:g.2176293G>A, NT_167248.1:g.2181889G>A, NT_167247.2:g.2265272G>A, NT_167247.1:g.2270857G>A

Select item 148196351113.

rs1481963511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30921118 (GRCh38)
6:30888895 (GRCh37)
Canonical SPDI:: NC_000006.12:30921117:G:A
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30921118G>A, NC_000006.11:g.30888895G>A, NG_034224.1:g.11911G>A, NM_020442.6:c.1533G>A, NM_020442.5:c.1533G>A, NM_020442.4:c.1533G>A, NM_001167733.3:c.1113G>A, NM_001167733.2:c.1113G>A, NM_001167733.1:c.1113G>A, NM_001167734.2:c.1623G>A, NM_001167734.1:c.1623G>A, NT_113891.3:g.2400716G>A, NT_113891.2:g.2400822G>A, NT_167246.2:g.2231356G>A, NT_167246.1:g.2236976G>A, NT_167245.2:g.2177437G>A, NT_167245.1:g.2183022G>A, NT_167248.2:g.2176290G>A, NT_167248.1:g.2181886G>A, NT_167247.2:g.2265269G>A, NT_167247.1:g.2270854G>A, NP_065175.4:p.Trp511Ter, NP_001161205.1:p.Trp371Ter, NP_001161206.1:p.Trp541Ter

Select item 148174711414.

rs1481747114 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:30914927 (GRCh38)
6:30882704 (GRCh37)
Canonical SPDI:: NC_000006.12:30914923:ACACA:ACA
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30914925CA[1], NC_000006.11:g.30882702CA[1], NG_034224.1:g.5718CA[1], NM_020442.6:c.91_92del, NM_020442.5:c.91_92del, NM_020442.4:c.91_92del, NM_001167734.2:c.181_182del, NM_001167734.1:c.181_182del, NT_113891.3:g.2394671CA[1], NT_113891.2:g.2394777CA[1], NT_167246.2:g.2225161CA[1], NT_167246.1:g.2230781CA[1], NT_167245.2:g.2171229CA[1], NT_167245.1:g.2176814CA[1], NT_167248.2:g.2170091CA[1], NT_167248.1:g.2175687CA[1], NT_167247.2:g.2259072CA[1], NT_167247.1:g.2264657CA[1], NP_065175.4:p.Gln31fs, NP_001161206.1:p.Gln61fs

Select item 148120229315.

rs1481202293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30917749 (GRCh38)
6:30885526 (GRCh37)
Canonical SPDI:: NC_000006.12:30917748:A:G
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30917749A>G, NC_000006.11:g.30885526A>G, NG_034224.1:g.8542A>G, NM_020442.6:c.928A>G, NM_020442.5:c.928A>G, NM_020442.4:c.928A>G, NM_001167733.3:c.508A>G, NM_001167733.2:c.508A>G, NM_001167733.1:c.508A>G, NM_001167734.2:c.1018A>G, NM_001167734.1:c.1018A>G, NT_113891.3:g.2397487A>G, NT_113891.2:g.2397593A>G, NT_167246.2:g.2227987A>G, NT_167246.1:g.2233607A>G, NT_167245.2:g.2174051A>G, NT_167245.1:g.2179636A>G, NT_167248.2:g.2172908A>G, NT_167248.1:g.2178504A>G, NT_167247.2:g.2261887A>G, NT_167247.1:g.2267472A>G, NP_065175.4:p.Thr310Ala, NP_001161205.1:p.Thr170Ala, NP_001161206.1:p.Thr340Ala

Select item 148083583616.

rs1480835836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30915218 (GRCh38)
6:30882995 (GRCh37)
Canonical SPDI:: NC_000006.12:30915217:G:A
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30915218G>A, NC_000006.11:g.30882995G>A, NG_034224.1:g.6011G>A, NM_020442.6:c.264G>A, NM_020442.5:c.264G>A, NM_020442.4:c.264G>A, NM_001167733.3:c.-157G>A, NM_001167733.2:c.-157G>A, NM_001167733.1:c.-157G>A, NM_001167734.2:c.354G>A, NM_001167734.1:c.354G>A, NT_113891.3:g.2394964G>A, NT_113891.2:g.2395070G>A, NT_167246.2:g.2225454G>A, NT_167246.1:g.2231074G>A, NT_167245.2:g.2171522G>A, NT_167245.1:g.2177107G>A, NT_167248.2:g.2170384G>A, NT_167248.1:g.2175980G>A, NT_167247.2:g.2259365G>A, NT_167247.1:g.2264950G>A

Select item 148021823817.

rs1480218238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30918869 (GRCh38)
6:30886646 (GRCh37)
Canonical SPDI:: NC_000006.12:30918868:C:T
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30918869C>T, NC_000006.11:g.30886646C>T, NG_034224.1:g.9662C>T, NM_020442.6:c.1028C>T, NM_020442.5:c.1028C>T, NM_020442.4:c.1028C>T, NM_001167733.3:c.608C>T, NM_001167733.2:c.608C>T, NM_001167733.1:c.608C>T, NM_001167734.2:c.1118C>T, NM_001167734.1:c.1118C>T, NT_113891.3:g.2398467C>T, NT_113891.2:g.2398573C>T, NT_167246.2:g.2229107C>T, NT_167246.1:g.2234727C>T, NT_167245.2:g.2175171C>T, NT_167245.1:g.2180756C>T, NT_167248.2:g.2174024C>T, NT_167248.1:g.2179620C>T, NT_167247.2:g.2263003C>T, NT_167247.1:g.2268588C>T, NP_065175.4:p.Pro343Leu, NP_001161205.1:p.Pro203Leu, NP_001161206.1:p.Pro373Leu

Select item 147966411718.

rs1479664117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30920092 (GRCh38)
6:30887869 (GRCh37)
Canonical SPDI:: NC_000006.12:30920091:C:T
Gene:: VARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30920092C>T, NC_000006.11:g.30887869C>T, NG_034224.1:g.10885C>T, NM_020442.6:c.1169C>T, NM_020442.5:c.1169C>T, NM_020442.4:c.1169C>T, NM_001167733.3:c.749C>T, NM_001167733.2:c.749C>T, NM_001167733.1:c.749C>T, NM_001167734.2:c.1259C>T, NM_001167734.1:c.1259C>T, NT_113891.3:g.2399690C>T, NT_113891.2:g.2399796C>T, NT_167246.2:g.2230330C>T, NT_167246.1:g.2235950C>T, NT_167245.2:g.2176411C>T, NT_167245.1:g.2181996C>T, NT_167248.2:g.2175264C>T, NT_167248.1:g.2180860C>T, NT_167247.2:g.2264243C>T, NT_167247.1:g.2269828C>T, NP_065175.4:p.Ala390Val, NP_001161205.1:p.Ala250Val, NP_001161206.1:p.Ala420Val

Select item 147839217219.

rs1478392172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30926139 (GRCh38)
6:30893916 (GRCh37)
Canonical SPDI:: NC_000006.12:30926138:C:T
Gene:: VARS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.30926139C>T, NC_000006.11:g.30893916C>T, NG_034224.1:g.16932C>T, NM_020442.6:c.3121C>T, NM_020442.5:c.3121C>T, NM_020442.4:c.3121C>T, NM_001167733.3:c.2701C>T, NM_001167733.2:c.2701C>T, NM_001167733.1:c.2701C>T, NM_001167734.2:c.3211C>T, NM_001167734.1:c.3211C>T, NT_113891.3:g.2405737C>T, NT_113891.2:g.2405843C>T, NT_167246.2:g.2236377C>T, NT_167246.1:g.2241997C>T, NT_167245.2:g.2182456C>T, NT_167245.1:g.2188041C>T, NT_167248.2:g.2181316C>T, NT_167248.1:g.2186912C>T, NT_167247.2:g.2270295C>T, NT_167247.1:g.2275880C>T

Select item 147830697120.

rs1478306971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:30920706 (GRCh38)
6:30888483 (GRCh37)
Canonical SPDI:: NC_000006.12:30920705:A:C,NC_000006.12:30920705:A:G
Gene:: VARS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30920706A>C, NC_000006.12:g.30920706A>G, NC_000006.11:g.30888483A>C, NC_000006.11:g.30888483A>G, NG_034224.1:g.11499A>C, NG_034224.1:g.11499A>G, NM_020442.6:c.1436A>C, NM_020442.6:c.1436A>G, NM_020442.5:c.1436A>C, NM_020442.5:c.1436A>G, NM_020442.4:c.1436A>C, NM_020442.4:c.1436A>G, NM_001167733.3:c.1016A>C, NM_001167733.3:c.1016A>G, NM_001167733.2:c.1016A>C, NM_001167733.2:c.1016A>G, NM_001167733.1:c.1016A>C, NM_001167733.1:c.1016A>G, NM_001167734.2:c.1526A>C, NM_001167734.2:c.1526A>G, NM_001167734.1:c.1526A>C, NM_001167734.1:c.1526A>G, NT_113891.3:g.2400304A>C, NT_113891.3:g.2400304A>G, NT_113891.2:g.2400410A>C, NT_113891.2:g.2400410A>G, NT_167246.2:g.2230944A>C, NT_167246.2:g.2230944A>G, NT_167246.1:g.2236564A>C, NT_167246.1:g.2236564A>G, NT_167245.2:g.2177025A>C, NT_167245.2:g.2177025A>G, NT_167245.1:g.2182610A>C, NT_167245.1:g.2182610A>G, NT_167248.2:g.2175878A>C, NT_167248.2:g.2175878A>G, NT_167248.1:g.2181474A>C, NT_167248.1:g.2181474A>G, NT_167247.2:g.2264857A>C, NT_167247.2:g.2264857A>G, NT_167247.1:g.2270442A>C, NT_167247.1:g.2270442A>G, NP_065175.4:p.Gln479Pro, NP_065175.4:p.Gln479Arg, NP_001161205.1:p.Gln339Pro, NP_001161205.1:p.Gln339Arg, NP_001161206.1:p.Gln509Pro, NP_001161206.1:p.Gln509Arg

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Clinical Significance

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