SNP Links for Protein (Select 90970328) - SNP - NCBI

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Links from Protein

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Select item 14780372001.

rs1478037200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:960361 (GRCh38)
20:941004 (GRCh37)
Canonical SPDI:: NC_000020.11:960360:G:T
Gene:: RSPO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.960361G>T, NC_000020.10:g.941004G>T, NG_013043.1:g.46904C>A, NM_001029871.4:c.701C>A, NM_001029871.3:c.701C>A, NM_001040007.3:c.515C>A, NM_001040007.2:c.515C>A, NP_001025042.2:p.Pro234His, NP_001035096.1:p.Pro172His

Select item 14724873262.

rs1472487326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:967964 (GRCh38)
20:948607 (GRCh37)
Canonical SPDI:: NC_000020.11:967963:A:G
Gene:: RSPO4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.967964A>G, NC_000020.10:g.948607A>G, NG_013043.1:g.39301T>C, NM_001029871.4:c.254T>C, NM_001029871.3:c.254T>C, NM_001040007.3:c.254T>C, NM_001040007.2:c.254T>C, XM_017027839.2:c.254T>C, XM_017027839.1:c.254T>C, NP_001025042.2:p.Val85Ala, NP_001035096.1:p.Val85Ala, XP_016883328.1:p.Val85Ala

Select item 14556993893.

rs1455699389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:967309 (GRCh38)
20:947952 (GRCh37)
Canonical SPDI:: NC_000020.11:967308:C:T
Gene:: RSPO4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.967309C>T, NC_000020.10:g.947952C>T, NG_013043.1:g.39956G>A, NM_001029871.4:c.274G>A, NM_001029871.3:c.274G>A, NM_001040007.3:c.274G>A, NM_001040007.2:c.274G>A, XM_017027839.2:c.274G>A, XM_017027839.1:c.274G>A, NP_001025042.2:p.Gly92Arg, NP_001035096.1:p.Gly92Arg, XP_016883328.1:p.Gly92Arg

Select item 14555269044.

rs1455526904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:967287 (GRCh38)
20:947930 (GRCh37)
Canonical SPDI:: NC_000020.11:967286:A:G
Gene:: RSPO4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.967287A>G, NC_000020.10:g.947930A>G, NG_013043.1:g.39978T>C, NM_001029871.4:c.296T>C, NM_001029871.3:c.296T>C, NM_001040007.3:c.296T>C, NM_001040007.2:c.296T>C, XM_017027839.2:c.296T>C, XM_017027839.1:c.296T>C, NP_001025042.2:p.Phe99Ser, NP_001035096.1:p.Phe99Ser, XP_016883328.1:p.Phe99Ser

Select item 14544051875.

rs1454405187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:968060 (GRCh38)
20:948703 (GRCh37)
Canonical SPDI:: NC_000020.11:968059:C:G,NC_000020.11:968059:C:T
Gene:: RSPO4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000020.11:g.968060C>G, NC_000020.11:g.968060C>T, NC_000020.10:g.948703C>G, NC_000020.10:g.948703C>T, NG_013043.1:g.39205G>C, NG_013043.1:g.39205G>A, NM_001029871.4:c.158G>C, NM_001029871.4:c.158G>A, NM_001029871.3:c.158G>C, NM_001029871.3:c.158G>A, NM_001040007.3:c.158G>C, NM_001040007.3:c.158G>A, NM_001040007.2:c.158G>C, NM_001040007.2:c.158G>A, XM_017027839.2:c.158G>C, XM_017027839.2:c.158G>A, XM_017027839.1:c.158G>C, XM_017027839.1:c.158G>A, NP_001025042.2:p.Arg53Thr, NP_001025042.2:p.Arg53Lys, NP_001035096.1:p.Arg53Thr, NP_001035096.1:p.Arg53Lys, XP_016883328.1:p.Arg53Thr, XP_016883328.1:p.Arg53Lys

Select item 14527417926.

rs1452741792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:967972 (GRCh38)
20:948615 (GRCh37)
Canonical SPDI:: NC_000020.11:967971:G:A
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.967972G>A, NC_000020.10:g.948615G>A, NG_013043.1:g.39293C>T, NM_001029871.4:c.246C>T, NM_001029871.3:c.246C>T, NM_001040007.3:c.246C>T, NM_001040007.2:c.246C>T, XM_017027839.2:c.246C>T, XM_017027839.1:c.246C>T

Select item 14462381047.

rs1446238104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:960450 (GRCh38)
20:941093 (GRCh37)
Canonical SPDI:: NC_000020.11:960449:C:G
Gene:: RSPO4 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.960450C>G, NC_000020.10:g.941093C>G, NG_013043.1:g.46815G>C, NM_001029871.4:c.612G>C, NM_001029871.3:c.612G>C, NM_001040007.3:c.426G>C, NM_001040007.2:c.426G>C, NP_001025042.2:p.Gln204His, NP_001035096.1:p.Gln142His

Select item 14366960768.

rs1436696076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:960419 (GRCh38)
20:941062 (GRCh37)
Canonical SPDI:: NC_000020.11:960418:T:C
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000020.11:g.960419T>C, NC_000020.10:g.941062T>C, NG_013043.1:g.46846A>G, NM_001029871.4:c.643A>G, NM_001029871.3:c.643A>G, NM_001040007.3:c.457A>G, NM_001040007.2:c.457A>G, NP_001025042.2:p.Lys215Glu, NP_001035096.1:p.Lys153Glu

Select item 14357154319.

rs1435715431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:968101 (GRCh38)
20:948744 (GRCh37)
Canonical SPDI:: NC_000020.11:968100:G:A
Gene:: RSPO4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.968101G>A, NC_000020.10:g.948744G>A, NG_013043.1:g.39164C>T, NM_001029871.4:c.117C>T, NM_001029871.3:c.117C>T, NM_001040007.3:c.117C>T, NM_001040007.2:c.117C>T, XM_017027839.2:c.117C>T, XM_017027839.1:c.117C>T

Select item 143316003710.

rs1433160037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:968010 (GRCh38)
20:948653 (GRCh37)
Canonical SPDI:: NC_000020.11:968009:G:A
Gene:: RSPO4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.968010G>A, NC_000020.10:g.948653G>A, NG_013043.1:g.39255C>T, NM_001029871.4:c.208C>T, NM_001029871.3:c.208C>T, NM_001040007.3:c.208C>T, NM_001040007.2:c.208C>T, XM_017027839.2:c.208C>T, XM_017027839.1:c.208C>T

Select item 142590160311.

rs1425901603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:960413 (GRCh38)
20:941056 (GRCh37)
Canonical SPDI:: NC_000020.11:960412:T:C
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.960413T>C, NC_000020.10:g.941056T>C, NG_013043.1:g.46852A>G, NM_001029871.4:c.649A>G, NM_001029871.3:c.649A>G, NM_001040007.3:c.463A>G, NM_001040007.2:c.463A>G, NP_001025042.2:p.Arg217Gly, NP_001035096.1:p.Arg155Gly

Select item 142047119312.

rs1420471193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:960462 (GRCh38)
20:941105 (GRCh37)
Canonical SPDI:: NC_000020.11:960461:C:G,NC_000020.11:960461:C:T
Gene:: RSPO4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.960462C>G, NC_000020.11:g.960462C>T, NC_000020.10:g.941105C>G, NC_000020.10:g.941105C>T, NG_013043.1:g.46803G>C, NG_013043.1:g.46803G>A, NM_001029871.4:c.600G>C, NM_001029871.4:c.600G>A, NM_001029871.3:c.600G>C, NM_001029871.3:c.600G>A, NM_001040007.3:c.414G>C, NM_001040007.3:c.414G>A, NM_001040007.2:c.414G>C, NM_001040007.2:c.414G>A, NP_001025042.2:p.Arg200Ser, NP_001035096.1:p.Arg138Ser

Select item 141734282413.

rs1417342824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:960370 (GRCh38)
20:941013 (GRCh37)
Canonical SPDI:: NC_000020.11:960369:C:A,NC_000020.11:960369:C:T
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000048/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.960370C>A, NC_000020.11:g.960370C>T, NC_000020.10:g.941013C>A, NC_000020.10:g.941013C>T, NG_013043.1:g.46895G>T, NG_013043.1:g.46895G>A, NM_001029871.4:c.692G>T, NM_001029871.4:c.692G>A, NM_001029871.3:c.692G>T, NM_001029871.3:c.692G>A, NM_001040007.3:c.506G>T, NM_001040007.3:c.506G>A, NM_001040007.2:c.506G>T, NM_001040007.2:c.506G>A, NP_001025042.2:p.Gly231Val, NP_001025042.2:p.Gly231Asp, NP_001035096.1:p.Gly169Val, NP_001035096.1:p.Gly169Asp

Select item 141682021214.

rs1416820212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:960360 (GRCh38)
20:941003 (GRCh37)
Canonical SPDI:: NC_000020.11:960359:G:A
Gene:: RSPO4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000020.11:g.960360G>A, NC_000020.10:g.941003G>A, NG_013043.1:g.46905C>T, NM_001029871.4:c.702C>T, NM_001029871.3:c.702C>T, NM_001040007.3:c.516C>T, NM_001040007.2:c.516C>T

Select item 141679309115.

rs1416793091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:960375 (GRCh38)
20:941018 (GRCh37)
Canonical SPDI:: NC_000020.11:960374:C:A
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000020.11:g.960375C>A, NC_000020.10:g.941018C>A, NG_013043.1:g.46890G>T, NM_001029871.4:c.687G>T, NM_001029871.3:c.687G>T, NM_001040007.3:c.501G>T, NM_001040007.2:c.501G>T, NP_001025042.2:p.Gln229His, NP_001035096.1:p.Gln167His

Select item 141521917416.

rs1415219174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:967994 (GRCh38)
20:948637 (GRCh37)
Canonical SPDI:: NC_000020.11:967993:G:T
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.967994G>T, NC_000020.10:g.948637G>T, NG_013043.1:g.39271C>A, NM_001029871.4:c.224C>A, NM_001029871.3:c.224C>A, NM_001040007.3:c.224C>A, NM_001040007.2:c.224C>A, XM_017027839.2:c.224C>A, XM_017027839.1:c.224C>A, NP_001025042.2:p.Pro75His, NP_001035096.1:p.Pro75His, XP_016883328.1:p.Pro75His

Select item 140189036917.

rs1401890369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:967313 (GRCh38)
20:947956 (GRCh37)
Canonical SPDI:: NC_000020.11:967312:T:A
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.967313T>A, NC_000020.10:g.947956T>A, NG_013043.1:g.39952A>T, NM_001029871.4:c.270A>T, NM_001029871.3:c.270A>T, NM_001040007.3:c.270A>T, NM_001040007.2:c.270A>T, XM_017027839.2:c.270A>T, XM_017027839.1:c.270A>T, NP_001025042.2:p.Lys90Asn, NP_001035096.1:p.Lys90Asn, XP_016883328.1:p.Lys90Asn

Select item 139709787918.

rs1397097879 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTACTGGCGGATGCC [Show Flanks]
Chromosome:: 20:968015 (GRCh38)
20:948659 (GRCh37)
Canonical SPDI:: NC_000020.11:968015:TGCCGTACTGGCGGATGCC:TGCCGTACTGGCGGATGCCGTACTGGCGGATGCC
Gene:: RSPO4 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TGCCGTACTGGCGGATGCCGTACTGGCGGATGCC=0./0 (ALFA)
TGCCGTACTGGCGGA=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.968020_968034dup, NC_000020.10:g.948663_948677dup, NG_013043.1:g.39235_39249dup, NM_001029871.4:c.188_202dup, NM_001029871.3:c.188_202dup, NM_001040007.3:c.188_202dup, NM_001040007.2:c.188_202dup, XM_017027839.2:c.188_202dup, XM_017027839.1:c.188_202dup, NP_001025042.2:p.Ile63_Gly67dup, NP_001035096.1:p.Ile63_Gly67dup, XP_016883328.1:p.Ile63_Gly67dup

Select item 139661029619.

rs1396610296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:967979 (GRCh38)
20:948622 (GRCh37)
Canonical SPDI:: NC_000020.11:967978:A:G
Gene:: RSPO4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.967979A>G, NC_000020.10:g.948622A>G, NG_013043.1:g.39286T>C, NM_001029871.4:c.239T>C, NM_001029871.3:c.239T>C, NM_001040007.3:c.239T>C, NM_001040007.2:c.239T>C, XM_017027839.2:c.239T>C, XM_017027839.1:c.239T>C, NP_001025042.2:p.Ile80Thr, NP_001035096.1:p.Ile80Thr, XP_016883328.1:p.Ile80Thr

Select item 139470187820.

rs1394701878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:960459 (GRCh38)
20:941102 (GRCh37)
Canonical SPDI:: NC_000020.11:960458:G:A
Gene:: RSPO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.960459G>A, NC_000020.10:g.941102G>A, NG_013043.1:g.46806C>T, NM_001029871.4:c.603C>T, NM_001029871.3:c.603C>T, NM_001040007.3:c.417C>T, NM_001040007.2:c.417C>T

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