SNP Links for Protein (Select 32967294) - SNP

Select item 14877741171.

rs1487774117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:37185408 (GRCh38)
22:37581448 (GRCh37)
Canonical SPDI:: NC_000022.11:37185407:C:G
Gene:: C1QTNF6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37185408C>G, NC_000022.10:g.37581448C>G, NM_031910.4:c.99G>C, NM_031910.3:c.99G>C, XM_011529857.3:c.42G>C, XM_011529857.2:c.42G>C, XM_011529857.1:c.42G>C, XM_017028569.2:c.99G>C, XM_017028569.1:c.99G>C, XM_024452153.2:c.99G>C, XM_024452153.1:c.99G>C, XM_024452150.2:c.99G>C, XM_024452150.1:c.99G>C, NM_182486.2:c.99G>C, NM_182486.1:c.99G>C, XM_047441112.1:c.99G>C, XM_047441111.1:c.99G>C, NM_001365878.1:c.42G>C, XM_047441114.1:c.99G>C, XM_047441113.1:c.99G>C

Select item 14787733892.

rs1478773389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37182681 (GRCh38)
22:37578721 (GRCh37)
Canonical SPDI:: NC_000022.11:37182680:C:T
Gene:: C1QTNF6 (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)
HGVS:: NC_000022.11:g.37182681C>T, NC_000022.10:g.37578721C>T, NM_031910.4:c.344G>A, NM_031910.3:c.344G>A, XM_011529857.3:c.287G>A, XM_011529857.2:c.287G>A, XM_011529857.1:c.287G>A, XM_017028569.2:c.344G>A, XM_017028569.1:c.344G>A, XM_024452153.2:c.344G>A, XM_024452153.1:c.344G>A, XM_024452150.2:c.344G>A, XM_024452150.1:c.344G>A, NM_182486.2:c.344G>A, NM_182486.1:c.344G>A, XM_047441112.1:c.344G>A, XM_047441111.1:c.344G>A, NM_001365878.1:c.287G>A, XM_047441114.1:c.344G>A, XM_047441113.1:c.344G>A, NP_114116.3:p.Gly115Asp, XP_011528159.1:p.Gly96Asp, XP_016884058.1:p.Gly115Asp, XP_024307921.1:p.Gly115Asp, XP_024307918.1:p.Gly115Asp, NP_872292.1:p.Gly115Asp, XP_047297068.1:p.Gly115Asp, XP_047297067.1:p.Gly115Asp, NP_001352807.1:p.Gly96Asp, XP_047297070.1:p.Gly115Asp, XP_047297069.1:p.Gly115Asp

Select item 14728374943.

rs1472837494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37182642 (GRCh38)
22:37578682 (GRCh37)
Canonical SPDI:: NC_000022.11:37182641:T:C
Gene:: C1QTNF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.37182642T>C, NC_000022.10:g.37578682T>C, NM_031910.4:c.383A>G, NM_031910.3:c.383A>G, XM_011529857.3:c.326A>G, XM_011529857.2:c.326A>G, XM_011529857.1:c.326A>G, XM_017028569.2:c.383A>G, XM_017028569.1:c.383A>G, XM_024452153.2:c.383A>G, XM_024452153.1:c.383A>G, XM_024452150.2:c.383A>G, XM_024452150.1:c.383A>G, NM_182486.2:c.383A>G, NM_182486.1:c.383A>G, XM_047441112.1:c.383A>G, XM_047441111.1:c.383A>G, NM_001365878.1:c.326A>G, XM_047441114.1:c.383A>G, XM_047441113.1:c.383A>G, NP_114116.3:p.Asp128Gly, XP_011528159.1:p.Asp109Gly, XP_016884058.1:p.Asp128Gly, XP_024307921.1:p.Asp128Gly, XP_024307918.1:p.Asp128Gly, NP_872292.1:p.Asp128Gly, XP_047297068.1:p.Asp128Gly, XP_047297067.1:p.Asp128Gly, NP_001352807.1:p.Asp109Gly, XP_047297070.1:p.Asp128Gly, XP_047297069.1:p.Asp128Gly

Select item 14685306374.

rs1468530637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37185246 (GRCh38)
22:37581286 (GRCh37)
Canonical SPDI:: NC_000022.11:37185245:T:C
Gene:: C1QTNF6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.37185246T>C, NC_000022.10:g.37581286T>C, NM_031910.4:c.261A>G, NM_031910.3:c.261A>G, XM_011529857.3:c.204A>G, XM_011529857.2:c.204A>G, XM_011529857.1:c.204A>G, XM_017028569.2:c.261A>G, XM_017028569.1:c.261A>G, XM_024452153.2:c.261A>G, XM_024452153.1:c.261A>G, XM_024452150.2:c.261A>G, XM_024452150.1:c.261A>G, NM_182486.2:c.261A>G, NM_182486.1:c.261A>G, XM_047441112.1:c.261A>G, XM_047441111.1:c.261A>G, NM_001365878.1:c.204A>G, XM_047441114.1:c.261A>G, XM_047441113.1:c.261A>G

Select item 14666548135.

rs1466654813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37182703 (GRCh38)
22:37578743 (GRCh37)
Canonical SPDI:: NC_000022.11:37182702:G:A
Gene:: C1QTNF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37182703G>A, NC_000022.10:g.37578743G>A, NM_031910.4:c.322C>T, NM_031910.3:c.322C>T, XM_011529857.3:c.265C>T, XM_011529857.2:c.265C>T, XM_011529857.1:c.265C>T, XM_017028569.2:c.322C>T, XM_017028569.1:c.322C>T, XM_024452153.2:c.322C>T, XM_024452153.1:c.322C>T, XM_024452150.2:c.322C>T, XM_024452150.1:c.322C>T, NM_182486.2:c.322C>T, NM_182486.1:c.322C>T, XM_047441112.1:c.322C>T, XM_047441111.1:c.322C>T, NM_001365878.1:c.265C>T, XM_047441114.1:c.322C>T, XM_047441113.1:c.322C>T, NP_114116.3:p.Pro108Ser, XP_011528159.1:p.Pro89Ser, XP_016884058.1:p.Pro108Ser, XP_024307921.1:p.Pro108Ser, XP_024307918.1:p.Pro108Ser, NP_872292.1:p.Pro108Ser, XP_047297068.1:p.Pro108Ser, XP_047297067.1:p.Pro108Ser, NP_001352807.1:p.Pro89Ser, XP_047297070.1:p.Pro108Ser, XP_047297069.1:p.Pro108Ser

Select item 14649261356.

rs1464926135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37182541 (GRCh38)
22:37578581 (GRCh37)
Canonical SPDI:: NC_000022.11:37182540:T:C
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.37182541T>C, NC_000022.10:g.37578581T>C, NM_031910.4:c.484A>G, NM_031910.3:c.484A>G, XM_011529857.3:c.427A>G, XM_011529857.2:c.427A>G, XM_011529857.1:c.427A>G, XM_017028569.2:c.484A>G, XM_017028569.1:c.484A>G, XM_024452153.2:c.484A>G, XM_024452153.1:c.484A>G, XM_024452150.2:c.484A>G, XM_024452150.1:c.484A>G, NM_182486.2:c.484A>G, NM_182486.1:c.484A>G, XM_047441112.1:c.484A>G, XM_047441111.1:c.484A>G, NM_001365878.1:c.427A>G, XM_047441114.1:c.484A>G, XM_047441113.1:c.484A>G, NP_114116.3:p.Thr162Ala, XP_011528159.1:p.Thr143Ala, XP_016884058.1:p.Thr162Ala, XP_024307921.1:p.Thr162Ala, XP_024307918.1:p.Thr162Ala, NP_872292.1:p.Thr162Ala, XP_047297068.1:p.Thr162Ala, XP_047297067.1:p.Thr162Ala, NP_001352807.1:p.Thr143Ala, XP_047297070.1:p.Thr162Ala, XP_047297069.1:p.Thr162Ala

Select item 14641466587.

rs1464146658 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:37182703 (GRCh38)
22:37578744 (GRCh37)
Canonical SPDI:: NC_000022.11:37182703:C:CC
Gene:: C1QTNF6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37182704dup, NC_000022.10:g.37578744dup, NM_031910.4:c.321dup, NM_031910.3:c.321dup, XM_011529857.3:c.264dup, XM_011529857.2:c.264dup, XM_011529857.1:c.264dup, XM_017028569.2:c.321dup, XM_017028569.1:c.321dup, XM_024452153.2:c.321dup, XM_024452153.1:c.321dup, XM_024452150.2:c.321dup, XM_024452150.1:c.321dup, NM_182486.2:c.321dup, NM_182486.1:c.321dup, XM_047441112.1:c.321dup, XM_047441111.1:c.321dup, NM_001365878.1:c.264dup, XM_047441114.1:c.321dup, XM_047441113.1:c.321dup, NP_114116.3:p.Pro108fs, XP_011528159.1:p.Pro89fs, XP_016884058.1:p.Pro108fs, XP_024307921.1:p.Pro108fs, XP_024307918.1:p.Pro108fs, NP_872292.1:p.Pro108fs, XP_047297068.1:p.Pro108fs, XP_047297067.1:p.Pro108fs, NP_001352807.1:p.Pro89fs, XP_047297070.1:p.Pro108fs, XP_047297069.1:p.Pro108fs

Select item 14625341218.

rs1462534121 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCGG [Show Flanks]
Chromosome:: 22:37182616 (GRCh38)
22:37578657 (GRCh37)
Canonical SPDI:: NC_000022.11:37182616:GCCGG:GCCGGCCGG
Gene:: C1QTNF6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GCCGGCCGG=0./0 (ALFA)
HGVS:: NC_000022.11:g.37182618_37182621dup, NC_000022.10:g.37578658_37578661dup, NM_031910.4:c.405_408dup, NM_031910.3:c.405_408dup, XM_011529857.3:c.348_351dup, XM_011529857.2:c.348_351dup, XM_011529857.1:c.348_351dup, XM_017028569.2:c.405_408dup, XM_017028569.1:c.405_408dup, XM_024452153.2:c.405_408dup, XM_024452153.1:c.405_408dup, XM_024452150.2:c.405_408dup, XM_024452150.1:c.405_408dup, NM_182486.2:c.405_408dup, NM_182486.1:c.405_408dup, XM_047441112.1:c.405_408dup, XM_047441111.1:c.405_408dup, NM_001365878.1:c.348_351dup, XM_047441114.1:c.405_408dup, XM_047441113.1:c.405_408dup, NP_114116.3:p.Ala137fs, XP_011528159.1:p.Ala118fs, XP_016884058.1:p.Ala137fs, XP_024307921.1:p.Ala137fs, XP_024307918.1:p.Ala137fs, NP_872292.1:p.Ala137fs, XP_047297068.1:p.Ala137fs, XP_047297067.1:p.Ala137fs, NP_001352807.1:p.Ala118fs, XP_047297070.1:p.Ala137fs, XP_047297069.1:p.Ala137fs

Select item 14621762479.

rs1462176247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37182406 (GRCh38)
22:37578446 (GRCh37)
Canonical SPDI:: NC_000022.11:37182405:C:T
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.37182406C>T, NC_000022.10:g.37578446C>T, NM_031910.4:c.619G>A, NM_031910.3:c.619G>A, XM_011529857.3:c.562G>A, XM_011529857.2:c.562G>A, XM_011529857.1:c.562G>A, XM_017028569.2:c.619G>A, XM_017028569.1:c.619G>A, XM_024452153.2:c.619G>A, XM_024452153.1:c.619G>A, XM_024452150.2:c.619G>A, XM_024452150.1:c.619G>A, NM_182486.2:c.619G>A, NM_182486.1:c.619G>A, XM_047441112.1:c.619G>A, XM_047441111.1:c.619G>A, NM_001365878.1:c.562G>A, XM_047441114.1:c.619G>A, XM_047441113.1:c.619G>A, NP_114116.3:p.Val207Met, XP_011528159.1:p.Val188Met, XP_016884058.1:p.Val207Met, XP_024307921.1:p.Val207Met, XP_024307918.1:p.Val207Met, NP_872292.1:p.Val207Met, XP_047297068.1:p.Val207Met, XP_047297067.1:p.Val207Met, NP_001352807.1:p.Val188Met, XP_047297070.1:p.Val207Met, XP_047297069.1:p.Val207Met

Select item 145735894510.

rs1457358945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37182267 (GRCh38)
22:37578307 (GRCh37)
Canonical SPDI:: NC_000022.11:37182266:C:T
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.37182267C>T, NC_000022.10:g.37578307C>T, NM_031910.4:c.758G>A, NM_031910.3:c.758G>A, XM_011529857.3:c.701G>A, XM_011529857.2:c.701G>A, XM_011529857.1:c.701G>A, XM_017028569.2:c.758G>A, XM_017028569.1:c.758G>A, XM_024452153.2:c.758G>A, XM_024452153.1:c.758G>A, XM_024452150.2:c.758G>A, XM_024452150.1:c.758G>A, NM_182486.2:c.758G>A, NM_182486.1:c.758G>A, XM_047441112.1:c.758G>A, XM_047441111.1:c.758G>A, NM_001365878.1:c.701G>A, XM_047441114.1:c.758G>A, XM_047441113.1:c.758G>A, NP_114116.3:p.Arg253His, XP_011528159.1:p.Arg234His, XP_016884058.1:p.Arg253His, XP_024307921.1:p.Arg253His, XP_024307918.1:p.Arg253His, NP_872292.1:p.Arg253His, XP_047297068.1:p.Arg253His, XP_047297067.1:p.Arg253His, NP_001352807.1:p.Arg234His, XP_047297070.1:p.Arg253His, XP_047297069.1:p.Arg253His

Select item 145716187711.

rs1457161877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:37182283 (GRCh38)
22:37578323 (GRCh37)
Canonical SPDI:: NC_000022.11:37182282:G:T
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.37182283G>T, NC_000022.10:g.37578323G>T, NM_031910.4:c.742C>A, NM_031910.3:c.742C>A, XM_011529857.3:c.685C>A, XM_011529857.2:c.685C>A, XM_011529857.1:c.685C>A, XM_017028569.2:c.742C>A, XM_017028569.1:c.742C>A, XM_024452153.2:c.742C>A, XM_024452153.1:c.742C>A, XM_024452150.2:c.742C>A, XM_024452150.1:c.742C>A, NM_182486.2:c.742C>A, NM_182486.1:c.742C>A, XM_047441112.1:c.742C>A, XM_047441111.1:c.742C>A, NM_001365878.1:c.685C>A, XM_047441114.1:c.742C>A, XM_047441113.1:c.742C>A, NP_114116.3:p.Leu248Ile, XP_011528159.1:p.Leu229Ile, XP_016884058.1:p.Leu248Ile, XP_024307921.1:p.Leu248Ile, XP_024307918.1:p.Leu248Ile, NP_872292.1:p.Leu248Ile, XP_047297068.1:p.Leu248Ile, XP_047297067.1:p.Leu248Ile, NP_001352807.1:p.Leu229Ile, XP_047297070.1:p.Leu248Ile, XP_047297069.1:p.Leu248Ile

Select item 144828292912.

rs1448282929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37185235 (GRCh38)
22:37581275 (GRCh37)
Canonical SPDI:: NC_000022.11:37185234:T:C
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.37185235T>C, NC_000022.10:g.37581275T>C, NM_031910.4:c.272A>G, NM_031910.3:c.272A>G, XM_011529857.3:c.215A>G, XM_011529857.2:c.215A>G, XM_011529857.1:c.215A>G, XM_017028569.2:c.272A>G, XM_017028569.1:c.272A>G, XM_024452153.2:c.272A>G, XM_024452153.1:c.272A>G, XM_024452150.2:c.272A>G, XM_024452150.1:c.272A>G, NM_182486.2:c.272A>G, NM_182486.1:c.272A>G, XM_047441112.1:c.272A>G, XM_047441111.1:c.272A>G, NM_001365878.1:c.215A>G, XM_047441114.1:c.272A>G, XM_047441113.1:c.272A>G, NP_114116.3:p.Asn91Ser, XP_011528159.1:p.Asn72Ser, XP_016884058.1:p.Asn91Ser, XP_024307921.1:p.Asn91Ser, XP_024307918.1:p.Asn91Ser, NP_872292.1:p.Asn91Ser, XP_047297068.1:p.Asn91Ser, XP_047297067.1:p.Asn91Ser, NP_001352807.1:p.Asn72Ser, XP_047297070.1:p.Asn91Ser, XP_047297069.1:p.Asn91Ser

Select item 144562552913.

rs1445625529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37185334 (GRCh38)
22:37581374 (GRCh37)
Canonical SPDI:: NC_000022.11:37185333:C:T
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37185334C>T, NC_000022.10:g.37581374C>T, NM_031910.4:c.173G>A, NM_031910.3:c.173G>A, XM_011529857.3:c.116G>A, XM_011529857.2:c.116G>A, XM_011529857.1:c.116G>A, XM_017028569.2:c.173G>A, XM_017028569.1:c.173G>A, XM_024452153.2:c.173G>A, XM_024452153.1:c.173G>A, XM_024452150.2:c.173G>A, XM_024452150.1:c.173G>A, NM_182486.2:c.173G>A, NM_182486.1:c.173G>A, XM_047441112.1:c.173G>A, XM_047441111.1:c.173G>A, NM_001365878.1:c.116G>A, XM_047441114.1:c.173G>A, XM_047441113.1:c.173G>A, NP_114116.3:p.Arg58Gln, XP_011528159.1:p.Arg39Gln, XP_016884058.1:p.Arg58Gln, XP_024307921.1:p.Arg58Gln, XP_024307918.1:p.Arg58Gln, NP_872292.1:p.Arg58Gln, XP_047297068.1:p.Arg58Gln, XP_047297067.1:p.Arg58Gln, NP_001352807.1:p.Arg39Gln, XP_047297070.1:p.Arg58Gln, XP_047297069.1:p.Arg58Gln

Select item 144560926114.

rs1445609261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:37182664 (GRCh38)
22:37578704 (GRCh37)
Canonical SPDI:: NC_000022.11:37182663:C:G
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37182664C>G, NC_000022.10:g.37578704C>G, NM_031910.4:c.361G>C, NM_031910.3:c.361G>C, XM_011529857.3:c.304G>C, XM_011529857.2:c.304G>C, XM_011529857.1:c.304G>C, XM_017028569.2:c.361G>C, XM_017028569.1:c.361G>C, XM_024452153.2:c.361G>C, XM_024452153.1:c.361G>C, XM_024452150.2:c.361G>C, XM_024452150.1:c.361G>C, NM_182486.2:c.361G>C, NM_182486.1:c.361G>C, XM_047441112.1:c.361G>C, XM_047441111.1:c.361G>C, NM_001365878.1:c.304G>C, XM_047441114.1:c.361G>C, XM_047441113.1:c.361G>C, NP_114116.3:p.Gly121Arg, XP_011528159.1:p.Gly102Arg, XP_016884058.1:p.Gly121Arg, XP_024307921.1:p.Gly121Arg, XP_024307918.1:p.Gly121Arg, NP_872292.1:p.Gly121Arg, XP_047297068.1:p.Gly121Arg, XP_047297067.1:p.Gly121Arg, NP_001352807.1:p.Gly102Arg, XP_047297070.1:p.Gly121Arg, XP_047297069.1:p.Gly121Arg

Select item 143747519115.

rs1437475191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37185367 (GRCh38)
22:37581407 (GRCh37)
Canonical SPDI:: NC_000022.11:37185366:G:A
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.37185367G>A, NC_000022.10:g.37581407G>A, NM_031910.4:c.140C>T, NM_031910.3:c.140C>T, XM_011529857.3:c.83C>T, XM_011529857.2:c.83C>T, XM_011529857.1:c.83C>T, XM_017028569.2:c.140C>T, XM_017028569.1:c.140C>T, XM_024452153.2:c.140C>T, XM_024452153.1:c.140C>T, XM_024452150.2:c.140C>T, XM_024452150.1:c.140C>T, NM_182486.2:c.140C>T, NM_182486.1:c.140C>T, XM_047441112.1:c.140C>T, XM_047441111.1:c.140C>T, NM_001365878.1:c.83C>T, XM_047441114.1:c.140C>T, XM_047441113.1:c.140C>T, NP_114116.3:p.Thr47Ile, XP_011528159.1:p.Thr28Ile, XP_016884058.1:p.Thr47Ile, XP_024307921.1:p.Thr47Ile, XP_024307918.1:p.Thr47Ile, NP_872292.1:p.Thr47Ile, XP_047297068.1:p.Thr47Ile, XP_047297067.1:p.Thr47Ile, NP_001352807.1:p.Thr28Ile, XP_047297070.1:p.Thr47Ile, XP_047297069.1:p.Thr47Ile

Select item 143418921216.

rs1434189212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37185344 (GRCh38)
22:37581384 (GRCh37)
Canonical SPDI:: NC_000022.11:37185343:C:T
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.37185344C>T, NC_000022.10:g.37581384C>T, NM_031910.4:c.163G>A, NM_031910.3:c.163G>A, XM_011529857.3:c.106G>A, XM_011529857.2:c.106G>A, XM_011529857.1:c.106G>A, XM_017028569.2:c.163G>A, XM_017028569.1:c.163G>A, XM_024452153.2:c.163G>A, XM_024452153.1:c.163G>A, XM_024452150.2:c.163G>A, XM_024452150.1:c.163G>A, NM_182486.2:c.163G>A, NM_182486.1:c.163G>A, XM_047441112.1:c.163G>A, XM_047441111.1:c.163G>A, NM_001365878.1:c.106G>A, XM_047441114.1:c.163G>A, XM_047441113.1:c.163G>A, NP_114116.3:p.Gly55Ser, XP_011528159.1:p.Gly36Ser, XP_016884058.1:p.Gly55Ser, XP_024307921.1:p.Gly55Ser, XP_024307918.1:p.Gly55Ser, NP_872292.1:p.Gly55Ser, XP_047297068.1:p.Gly55Ser, XP_047297067.1:p.Gly55Ser, NP_001352807.1:p.Gly36Ser, XP_047297070.1:p.Gly55Ser, XP_047297069.1:p.Gly55Ser

Select item 143310972317.

rs1433109723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:37182313 (GRCh38)
22:37578353 (GRCh37)
Canonical SPDI:: NC_000022.11:37182312:G:T
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37182313G>T, NC_000022.10:g.37578353G>T, NM_031910.4:c.712C>A, NM_031910.3:c.712C>A, XM_011529857.3:c.655C>A, XM_011529857.2:c.655C>A, XM_011529857.1:c.655C>A, XM_017028569.2:c.712C>A, XM_017028569.1:c.712C>A, XM_024452153.2:c.712C>A, XM_024452153.1:c.712C>A, XM_024452150.2:c.712C>A, XM_024452150.1:c.712C>A, NM_182486.2:c.712C>A, NM_182486.1:c.712C>A, XM_047441112.1:c.712C>A, XM_047441111.1:c.712C>A, NM_001365878.1:c.655C>A, XM_047441114.1:c.712C>A, XM_047441113.1:c.712C>A, NP_114116.3:p.Leu238Met, XP_011528159.1:p.Leu219Met, XP_016884058.1:p.Leu238Met, XP_024307921.1:p.Leu238Met, XP_024307918.1:p.Leu238Met, NP_872292.1:p.Leu238Met, XP_047297068.1:p.Leu238Met, XP_047297067.1:p.Leu238Met, NP_001352807.1:p.Leu219Met, XP_047297070.1:p.Leu238Met, XP_047297069.1:p.Leu238Met

Select item 143295581618.

rs1432955816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:37182419 (GRCh38)
22:37578459 (GRCh37)
Canonical SPDI:: NC_000022.11:37182418:G:A,NC_000022.11:37182418:G:C
Gene:: C1QTNF6 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000022.11:g.37182419G>A, NC_000022.11:g.37182419G>C, NC_000022.10:g.37578459G>A, NC_000022.10:g.37578459G>C, NM_031910.4:c.606C>T, NM_031910.4:c.606C>G, NM_031910.3:c.606C>T, NM_031910.3:c.606C>G, XM_011529857.3:c.549C>T, XM_011529857.3:c.549C>G, XM_011529857.2:c.549C>T, XM_011529857.2:c.549C>G, XM_011529857.1:c.549C>T, XM_011529857.1:c.549C>G, XM_017028569.2:c.606C>T, XM_017028569.2:c.606C>G, XM_017028569.1:c.606C>T, XM_017028569.1:c.606C>G, XM_024452153.2:c.606C>T, XM_024452153.2:c.606C>G, XM_024452153.1:c.606C>T, XM_024452153.1:c.606C>G, XM_024452150.2:c.606C>T, XM_024452150.2:c.606C>G, XM_024452150.1:c.606C>T, XM_024452150.1:c.606C>G, NM_182486.2:c.606C>T, NM_182486.2:c.606C>G, NM_182486.1:c.606C>T, NM_182486.1:c.606C>G, XM_047441112.1:c.606C>T, XM_047441112.1:c.606C>G, XM_047441111.1:c.606C>T, XM_047441111.1:c.606C>G, NM_001365878.1:c.549C>T, NM_001365878.1:c.549C>G, XM_047441114.1:c.606C>T, XM_047441114.1:c.606C>G, XM_047441113.1:c.606C>T, XM_047441113.1:c.606C>G, NP_114116.3:p.Tyr202Ter, XP_011528159.1:p.Tyr183Ter, XP_016884058.1:p.Tyr202Ter, XP_024307921.1:p.Tyr202Ter, XP_024307918.1:p.Tyr202Ter, NP_872292.1:p.Tyr202Ter, XP_047297068.1:p.Tyr202Ter, XP_047297067.1:p.Tyr202Ter, NP_001352807.1:p.Tyr183Ter, XP_047297070.1:p.Tyr202Ter, XP_047297069.1:p.Tyr202Ter

Select item 142956575619.

rs1429565756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37182468 (GRCh38)
22:37578508 (GRCh37)
Canonical SPDI:: NC_000022.11:37182467:G:A
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37182468G>A, NC_000022.10:g.37578508G>A, NM_031910.4:c.557C>T, NM_031910.3:c.557C>T, XM_011529857.3:c.500C>T, XM_011529857.2:c.500C>T, XM_011529857.1:c.500C>T, XM_017028569.2:c.557C>T, XM_017028569.1:c.557C>T, XM_024452153.2:c.557C>T, XM_024452153.1:c.557C>T, XM_024452150.2:c.557C>T, XM_024452150.1:c.557C>T, NM_182486.2:c.557C>T, NM_182486.1:c.557C>T, XM_047441112.1:c.557C>T, XM_047441111.1:c.557C>T, NM_001365878.1:c.500C>T, XM_047441114.1:c.557C>T, XM_047441113.1:c.557C>T, NP_114116.3:p.Pro186Leu, XP_011528159.1:p.Pro167Leu, XP_016884058.1:p.Pro186Leu, XP_024307921.1:p.Pro186Leu, XP_024307918.1:p.Pro186Leu, NP_872292.1:p.Pro186Leu, XP_047297068.1:p.Pro186Leu, XP_047297067.1:p.Pro186Leu, NP_001352807.1:p.Pro167Leu, XP_047297070.1:p.Pro186Leu, XP_047297069.1:p.Pro186Leu

Select item 142947655720.

rs1429476557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:37182538 (GRCh38)
22:37578578 (GRCh37)
Canonical SPDI:: NC_000022.11:37182537:G:C
Gene:: C1QTNF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37182538G>C, NC_000022.10:g.37578578G>C, NM_031910.4:c.487C>G, NM_031910.3:c.487C>G, XM_011529857.3:c.430C>G, XM_011529857.2:c.430C>G, XM_011529857.1:c.430C>G, XM_017028569.2:c.487C>G, XM_017028569.1:c.487C>G, XM_024452153.2:c.487C>G, XM_024452153.1:c.487C>G, XM_024452150.2:c.487C>G, XM_024452150.1:c.487C>G, NM_182486.2:c.487C>G, NM_182486.1:c.487C>G, XM_047441112.1:c.487C>G, XM_047441111.1:c.487C>G, NM_001365878.1:c.430C>G, XM_047441114.1:c.487C>G, XM_047441113.1:c.487C>G, NP_114116.3:p.Leu163Val, XP_011528159.1:p.Leu144Val, XP_016884058.1:p.Leu163Val, XP_024307921.1:p.Leu163Val, XP_024307918.1:p.Leu163Val, NP_872292.1:p.Leu163Val, XP_047297068.1:p.Leu163Val, XP_047297067.1:p.Leu163Val, NP_001352807.1:p.Leu144Val, XP_047297070.1:p.Leu163Val, XP_047297069.1:p.Leu163Val

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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 307

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