SNP Links for Protein (Select 38372917) - SNP

Links from Protein

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Select item 14886574151.

rs1488657415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:79047940 (GRCh38)
17:77044022 (GRCh37)
Canonical SPDI:: NC_000017.11:79047939:G:A
Gene:: C1QTNF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.79047940G>A, NC_000017.10:g.77044022G>A, NM_030968.5:c.698G>A, NM_030968.4:c.698G>A, NM_030968.3:c.698G>A, NM_198593.4:c.698G>A, NM_198593.3:c.698G>A, NM_198594.4:c.452G>A, NM_198594.3:c.452G>A, NM_198594.2:c.452G>A, NR_049769.3:n.1023G>A, NR_049769.2:n.1048G>A, NR_049769.1:n.985G>A, NM_153372.3:c.698G>A, NM_153372.2:c.698G>A, NM_153372.1:c.698G>A, XM_006721664.2:c.845G>A, XM_006721664.1:c.845G>A, XM_024450561.2:c.698G>A, XM_024450561.1:c.698G>A, XM_006721666.2:c.728G>A, XM_006721666.1:c.728G>A, XM_047435297.1:c.698G>A, XM_047435296.1:c.728G>A, XM_047435295.1:c.728G>A, XM_017024126.1:c.452G>A, XM_006721663.1:c.992G>A, NP_112230.1:p.Ser233Asn, NP_940995.1:p.Ser233Asn, NP_940996.1:p.Ser151Asn, NP_699203.1:p.Ser233Asn, XP_006721727.1:p.Ser282Asn, XP_024306329.1:p.Ser233Asn, XP_006721729.1:p.Ser243Asn, XP_047291253.1:p.Ser233Asn, XP_047291252.1:p.Ser243Asn, XP_047291251.1:p.Ser243Asn, XP_016879615.1:p.Ser151Asn, XP_006721726.1:p.Ser331Asn

Select item 14850454282.

rs1485045428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:79047965 (GRCh38)
17:77044047 (GRCh37)
Canonical SPDI:: NC_000017.11:79047964:A:G
Gene:: C1QTNF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.79047965A>G, NC_000017.10:g.77044047A>G, NM_030968.5:c.723A>G, NM_030968.4:c.723A>G, NM_030968.3:c.723A>G, NM_198593.4:c.723A>G, NM_198593.3:c.723A>G, NM_198594.4:c.477A>G, NM_198594.3:c.477A>G, NM_198594.2:c.477A>G, NR_049769.3:n.1048A>G, NR_049769.2:n.1073A>G, NR_049769.1:n.1010A>G, NM_153372.3:c.723A>G, NM_153372.2:c.723A>G, NM_153372.1:c.723A>G, XM_006721664.2:c.870A>G, XM_006721664.1:c.870A>G, XM_024450561.2:c.723A>G, XM_024450561.1:c.723A>G, XM_006721666.2:c.753A>G, XM_006721666.1:c.753A>G, XM_047435297.1:c.723A>G, XM_047435296.1:c.753A>G, XM_047435295.1:c.753A>G, XM_017024126.1:c.477A>G, XM_006721663.1:c.1017A>G

Select item 14814668223.

rs1481466822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79046604 (GRCh38)
17:77042686 (GRCh37)
Canonical SPDI:: NC_000017.11:79046603:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.79046604C>T, NC_000017.10:g.77042686C>T, NM_030968.5:c.205C>T, NM_030968.4:c.205C>T, NM_030968.3:c.205C>T, NM_198593.4:c.205C>T, NM_198593.3:c.205C>T, NM_198594.4:c.-42C>T, NM_198594.3:c.-42C>T, NM_198594.2:c.-42C>T, NR_049769.3:n.530C>T, NR_049769.2:n.555C>T, NR_049769.1:n.492C>T, NM_153372.3:c.205C>T, NM_153372.2:c.205C>T, NM_153372.1:c.205C>T, XM_006721664.2:c.352C>T, XM_006721664.1:c.352C>T, XM_024450561.2:c.205C>T, XM_024450561.1:c.205C>T, XM_006721666.2:c.235C>T, XM_006721666.1:c.235C>T, XM_047435297.1:c.205C>T, XM_047435296.1:c.235C>T, XM_047435295.1:c.235C>T, XM_017024126.1:c.-42C>T, XM_006721663.1:c.499C>T, NP_112230.1:p.Pro69Ser, NP_940995.1:p.Pro69Ser, NP_699203.1:p.Pro69Ser, XP_006721727.1:p.Pro118Ser, XP_024306329.1:p.Pro69Ser, XP_006721729.1:p.Pro79Ser, XP_047291253.1:p.Pro69Ser, XP_047291252.1:p.Pro79Ser, XP_047291251.1:p.Pro79Ser, XP_006721726.1:p.Pro167Ser

Select item 14793905544.

rs1479390554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:79047948 (GRCh38)
17:77044030 (GRCh37)
Canonical SPDI:: NC_000017.11:79047947:C:G
Gene:: C1QTNF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.79047948C>G, NC_000017.10:g.77044030C>G, NM_030968.5:c.706C>G, NM_030968.4:c.706C>G, NM_030968.3:c.706C>G, NM_198593.4:c.706C>G, NM_198593.3:c.706C>G, NM_198594.4:c.460C>G, NM_198594.3:c.460C>G, NM_198594.2:c.460C>G, NR_049769.3:n.1031C>G, NR_049769.2:n.1056C>G, NR_049769.1:n.993C>G, NM_153372.3:c.706C>G, NM_153372.2:c.706C>G, NM_153372.1:c.706C>G, XM_006721664.2:c.853C>G, XM_006721664.1:c.853C>G, XM_024450561.2:c.706C>G, XM_024450561.1:c.706C>G, XM_006721666.2:c.736C>G, XM_006721666.1:c.736C>G, XM_047435297.1:c.706C>G, XM_047435296.1:c.736C>G, XM_047435295.1:c.736C>G, XM_017024126.1:c.460C>G, XM_006721663.1:c.1000C>G, NP_112230.1:p.Leu236Val, NP_940995.1:p.Leu236Val, NP_940996.1:p.Leu154Val, NP_699203.1:p.Leu236Val, XP_006721727.1:p.Leu285Val, XP_024306329.1:p.Leu236Val, XP_006721729.1:p.Leu246Val, XP_047291253.1:p.Leu236Val, XP_047291252.1:p.Leu246Val, XP_047291251.1:p.Leu246Val, XP_016879615.1:p.Leu154Val, XP_006721726.1:p.Leu334Val

Select item 14755185465.

rs1475518546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:79047802 (GRCh38)
17:77043884 (GRCh37)
Canonical SPDI:: NC_000017.11:79047801:G:A
Gene:: C1QTNF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.79047802G>A, NC_000017.10:g.77043884G>A, NM_030968.5:c.560G>A, NM_030968.4:c.560G>A, NM_030968.3:c.560G>A, NM_198593.4:c.560G>A, NM_198593.3:c.560G>A, NM_198594.4:c.314G>A, NM_198594.3:c.314G>A, NM_198594.2:c.314G>A, NR_049769.3:n.885G>A, NR_049769.2:n.910G>A, NR_049769.1:n.847G>A, NM_153372.3:c.560G>A, NM_153372.2:c.560G>A, NM_153372.1:c.560G>A, XM_006721664.2:c.707G>A, XM_006721664.1:c.707G>A, XM_024450561.2:c.560G>A, XM_024450561.1:c.560G>A, XM_006721666.2:c.590G>A, XM_006721666.1:c.590G>A, XM_047435297.1:c.560G>A, XM_047435296.1:c.590G>A, XM_047435295.1:c.590G>A, XM_017024126.1:c.314G>A, XM_006721663.1:c.854G>A, NP_112230.1:p.Cys187Tyr, NP_940995.1:p.Cys187Tyr, NP_940996.1:p.Cys105Tyr, NP_699203.1:p.Cys187Tyr, XP_006721727.1:p.Cys236Tyr, XP_024306329.1:p.Cys187Tyr, XP_006721729.1:p.Cys197Tyr, XP_047291253.1:p.Cys187Tyr, XP_047291252.1:p.Cys197Tyr, XP_047291251.1:p.Cys197Tyr, XP_016879615.1:p.Cys105Tyr, XP_006721726.1:p.Cys285Tyr

Select item 14684750246.

rs1468475024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79047974 (GRCh38)
17:77044056 (GRCh37)
Canonical SPDI:: NC_000017.11:79047973:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.79047974C>T, NC_000017.10:g.77044056C>T, NM_030968.5:c.732C>T, NM_030968.4:c.732C>T, NM_030968.3:c.732C>T, NM_198593.4:c.732C>T, NM_198593.3:c.732C>T, NM_198594.4:c.486C>T, NM_198594.3:c.486C>T, NM_198594.2:c.486C>T, NR_049769.3:n.1057C>T, NR_049769.2:n.1082C>T, NR_049769.1:n.1019C>T, NM_153372.3:c.732C>T, NM_153372.2:c.732C>T, NM_153372.1:c.732C>T, XM_006721664.2:c.879C>T, XM_006721664.1:c.879C>T, XM_024450561.2:c.732C>T, XM_024450561.1:c.732C>T, XM_006721666.2:c.762C>T, XM_006721666.1:c.762C>T, XM_047435297.1:c.732C>T, XM_047435296.1:c.762C>T, XM_047435295.1:c.762C>T, XM_017024126.1:c.486C>T, XM_006721663.1:c.1026C>T

Select item 14673889167.

rs1467388916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:79047727 (GRCh38)
17:77043809 (GRCh37)
Canonical SPDI:: NC_000017.11:79047726:A:C
Gene:: C1QTNF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.79047727A>C, NC_000017.10:g.77043809A>C, NM_030968.5:c.485A>C, NM_030968.4:c.485A>C, NM_030968.3:c.485A>C, NM_198593.4:c.485A>C, NM_198593.3:c.485A>C, NM_198594.4:c.239A>C, NM_198594.3:c.239A>C, NM_198594.2:c.239A>C, NR_049769.3:n.810A>C, NR_049769.2:n.835A>C, NR_049769.1:n.772A>C, NM_153372.3:c.485A>C, NM_153372.2:c.485A>C, NM_153372.1:c.485A>C, XM_006721664.2:c.632A>C, XM_006721664.1:c.632A>C, XM_024450561.2:c.485A>C, XM_024450561.1:c.485A>C, XM_006721666.2:c.515A>C, XM_006721666.1:c.515A>C, XM_047435297.1:c.485A>C, XM_047435296.1:c.515A>C, XM_047435295.1:c.515A>C, XM_017024126.1:c.239A>C, XM_006721663.1:c.779A>C, NP_112230.1:p.Tyr162Ser, NP_940995.1:p.Tyr162Ser, NP_940996.1:p.Tyr80Ser, NP_699203.1:p.Tyr162Ser, XP_006721727.1:p.Tyr211Ser, XP_024306329.1:p.Tyr162Ser, XP_006721729.1:p.Tyr172Ser, XP_047291253.1:p.Tyr162Ser, XP_047291252.1:p.Tyr172Ser, XP_047291251.1:p.Tyr172Ser, XP_016879615.1:p.Tyr80Ser, XP_006721726.1:p.Tyr260Ser

Select item 14596526298.

rs1459652629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:79047637 (GRCh38)
17:77043719 (GRCh37)
Canonical SPDI:: NC_000017.11:79047636:G:A
Gene:: C1QTNF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000017.11:g.79047637G>A, NC_000017.10:g.77043719G>A, NM_030968.5:c.395G>A, NM_030968.4:c.395G>A, NM_030968.3:c.395G>A, NM_198593.4:c.395G>A, NM_198593.3:c.395G>A, NM_198594.4:c.149G>A, NM_198594.3:c.149G>A, NM_198594.2:c.149G>A, NR_049769.3:n.720G>A, NR_049769.2:n.745G>A, NR_049769.1:n.682G>A, NM_153372.3:c.395G>A, NM_153372.2:c.395G>A, NM_153372.1:c.395G>A, XM_006721664.2:c.542G>A, XM_006721664.1:c.542G>A, XM_024450561.2:c.395G>A, XM_024450561.1:c.395G>A, XM_006721666.2:c.425G>A, XM_006721666.1:c.425G>A, XM_047435297.1:c.395G>A, XM_047435296.1:c.425G>A, XM_047435295.1:c.425G>A, XM_017024126.1:c.149G>A, XM_006721663.1:c.689G>A, NP_112230.1:p.Gly132Asp, NP_940995.1:p.Gly132Asp, NP_940996.1:p.Gly50Asp, NP_699203.1:p.Gly132Asp, XP_006721727.1:p.Gly181Asp, XP_024306329.1:p.Gly132Asp, XP_006721729.1:p.Gly142Asp, XP_047291253.1:p.Gly132Asp, XP_047291252.1:p.Gly142Asp, XP_047291251.1:p.Gly142Asp, XP_016879615.1:p.Gly50Asp, XP_006721726.1:p.Gly230Asp

Select item 14592799029.

rs1459279902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:79044047 (GRCh38)
17:77040129 (GRCh37)
Canonical SPDI:: NC_000017.11:79044046:G:A,NC_000017.11:79044046:G:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.79044047G>A, NC_000017.11:g.79044047G>T, NC_000017.10:g.77040129G>A, NC_000017.10:g.77040129G>T, NM_030968.5:c.79G>A, NM_030968.5:c.79G>T, NM_030968.4:c.79G>A, NM_030968.4:c.79G>T, NM_030968.3:c.79G>A, NM_030968.3:c.79G>T, NM_198593.4:c.79G>A, NM_198593.4:c.79G>T, NM_198593.3:c.79G>A, NM_198593.3:c.79G>T, NR_049769.3:n.404G>A, NR_049769.3:n.404G>T, NR_049769.2:n.429G>A, NR_049769.2:n.429G>T, NR_049769.1:n.366G>A, NR_049769.1:n.366G>T, NM_153372.3:c.79G>A, NM_153372.3:c.79G>T, NM_153372.2:c.79G>A, NM_153372.2:c.79G>T, NM_153372.1:c.79G>A, NM_153372.1:c.79G>T, XM_006721664.2:c.226G>A, XM_006721664.2:c.226G>T, XM_006721664.1:c.226G>A, XM_006721664.1:c.226G>T, XM_024450561.2:c.79G>A, XM_024450561.2:c.79G>T, XM_024450561.1:c.79G>A, XM_024450561.1:c.79G>T, XM_006721666.2:c.109G>A, XM_006721666.2:c.109G>T, XM_006721666.1:c.109G>A, XM_006721666.1:c.109G>T, XM_047435297.1:c.79G>A, XM_047435297.1:c.79G>T, XM_047435296.1:c.109G>A, XM_047435296.1:c.109G>T, XM_047435295.1:c.109G>A, XM_047435295.1:c.109G>T, XM_006721663.1:c.373G>A, XM_006721663.1:c.373G>T, NP_112230.1:p.Val27Met, NP_112230.1:p.Val27Leu, NP_940995.1:p.Val27Met, NP_940995.1:p.Val27Leu, NP_699203.1:p.Val27Met, NP_699203.1:p.Val27Leu, XP_006721727.1:p.Val76Met, XP_006721727.1:p.Val76Leu, XP_024306329.1:p.Val27Met, XP_024306329.1:p.Val27Leu, XP_006721729.1:p.Val37Met, XP_006721729.1:p.Val37Leu, XP_047291253.1:p.Val27Met, XP_047291253.1:p.Val27Leu, XP_047291252.1:p.Val37Met, XP_047291252.1:p.Val37Leu, XP_047291251.1:p.Val37Met, XP_047291251.1:p.Val37Leu, XP_006721726.1:p.Val125Met, XP_006721726.1:p.Val125Leu

Select item 145904913310.

rs1459049133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79048052 (GRCh38)
17:77044134 (GRCh37)
Canonical SPDI:: NC_000017.11:79048051:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.79048052C>T, NC_000017.10:g.77044134C>T, NM_030968.5:c.810C>T, NM_030968.4:c.810C>T, NM_030968.3:c.810C>T, NM_198593.4:c.810C>T, NM_198593.3:c.810C>T, NM_198594.4:c.564C>T, NM_198594.3:c.564C>T, NM_198594.2:c.564C>T, NR_049769.3:n.1135C>T, NR_049769.2:n.1160C>T, NR_049769.1:n.1097C>T, NM_153372.3:c.810C>T, NM_153372.2:c.810C>T, NM_153372.1:c.810C>T, XM_006721664.2:c.957C>T, XM_006721664.1:c.957C>T, XM_024450561.2:c.810C>T, XM_024450561.1:c.810C>T, XM_006721666.2:c.840C>T, XM_006721666.1:c.840C>T, XM_047435297.1:c.810C>T, XM_047435296.1:c.840C>T, XM_047435295.1:c.840C>T, XM_017024126.1:c.564C>T, XM_006721663.1:c.1104C>T

Select item 145025842611.

rs1450258426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79047824 (GRCh38)
17:77043906 (GRCh37)
Canonical SPDI:: NC_000017.11:79047823:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.79047824C>T, NC_000017.10:g.77043906C>T, NM_030968.5:c.582C>T, NM_030968.4:c.582C>T, NM_030968.3:c.582C>T, NM_198593.4:c.582C>T, NM_198593.3:c.582C>T, NM_198594.4:c.336C>T, NM_198594.3:c.336C>T, NM_198594.2:c.336C>T, NR_049769.3:n.907C>T, NR_049769.2:n.932C>T, NR_049769.1:n.869C>T, NM_153372.3:c.582C>T, NM_153372.2:c.582C>T, NM_153372.1:c.582C>T, XM_006721664.2:c.729C>T, XM_006721664.1:c.729C>T, XM_024450561.2:c.582C>T, XM_024450561.1:c.582C>T, XM_006721666.2:c.612C>T, XM_006721666.1:c.612C>T, XM_047435297.1:c.582C>T, XM_047435296.1:c.612C>T, XM_047435295.1:c.612C>T, XM_017024126.1:c.336C>T, XM_006721663.1:c.876C>T

Select item 144659008612.

rs1446590086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:79047871 (GRCh38)
17:77043953 (GRCh37)
Canonical SPDI:: NC_000017.11:79047870:A:C
Gene:: C1QTNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.79047871A>C, NC_000017.10:g.77043953A>C, NM_030968.5:c.629A>C, NM_030968.4:c.629A>C, NM_030968.3:c.629A>C, NM_198593.4:c.629A>C, NM_198593.3:c.629A>C, NM_198594.4:c.383A>C, NM_198594.3:c.383A>C, NM_198594.2:c.383A>C, NR_049769.3:n.954A>C, NR_049769.2:n.979A>C, NR_049769.1:n.916A>C, NM_153372.3:c.629A>C, NM_153372.2:c.629A>C, NM_153372.1:c.629A>C, XM_006721664.2:c.776A>C, XM_006721664.1:c.776A>C, XM_024450561.2:c.629A>C, XM_024450561.1:c.629A>C, XM_006721666.2:c.659A>C, XM_006721666.1:c.659A>C, XM_047435297.1:c.629A>C, XM_047435296.1:c.659A>C, XM_047435295.1:c.659A>C, XM_017024126.1:c.383A>C, XM_006721663.1:c.923A>C, NP_112230.1:p.His210Pro, NP_940995.1:p.His210Pro, NP_940996.1:p.His128Pro, NP_699203.1:p.His210Pro, XP_006721727.1:p.His259Pro, XP_024306329.1:p.His210Pro, XP_006721729.1:p.His220Pro, XP_047291253.1:p.His210Pro, XP_047291252.1:p.His220Pro, XP_047291251.1:p.His220Pro, XP_016879615.1:p.His128Pro, XP_006721726.1:p.His308Pro

Select item 144425046513.

rs1444250465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:79044072 (GRCh38)
17:77040154 (GRCh37)
Canonical SPDI:: NC_000017.11:79044071:A:G
Gene:: C1QTNF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.79044072A>G, NC_000017.10:g.77040154A>G, NM_030968.5:c.104A>G, NM_030968.4:c.104A>G, NM_030968.3:c.104A>G, NM_198593.4:c.104A>G, NM_198593.3:c.104A>G, NR_049769.3:n.429A>G, NR_049769.2:n.454A>G, NR_049769.1:n.391A>G, NM_153372.3:c.104A>G, NM_153372.2:c.104A>G, NM_153372.1:c.104A>G, XM_006721664.2:c.251A>G, XM_006721664.1:c.251A>G, XM_024450561.2:c.104A>G, XM_024450561.1:c.104A>G, XM_006721666.2:c.134A>G, XM_006721666.1:c.134A>G, XM_047435297.1:c.104A>G, XM_047435296.1:c.134A>G, XM_047435295.1:c.134A>G, XM_006721663.1:c.398A>G, NP_112230.1:p.Gln35Arg, NP_940995.1:p.Gln35Arg, NP_699203.1:p.Gln35Arg, XP_006721727.1:p.Gln84Arg, XP_024306329.1:p.Gln35Arg, XP_006721729.1:p.Gln45Arg, XP_047291253.1:p.Gln35Arg, XP_047291252.1:p.Gln45Arg, XP_047291251.1:p.Gln45Arg, XP_006721726.1:p.Gln133Arg

Select item 144317950414.

rs1443179504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79047791 (GRCh38)
17:77043873 (GRCh37)
Canonical SPDI:: NC_000017.11:79047790:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.79047791C>T, NC_000017.10:g.77043873C>T, NM_030968.5:c.549C>T, NM_030968.4:c.549C>T, NM_030968.3:c.549C>T, NM_198593.4:c.549C>T, NM_198593.3:c.549C>T, NM_198594.4:c.303C>T, NM_198594.3:c.303C>T, NM_198594.2:c.303C>T, NR_049769.3:n.874C>T, NR_049769.2:n.899C>T, NR_049769.1:n.836C>T, NM_153372.3:c.549C>T, NM_153372.2:c.549C>T, NM_153372.1:c.549C>T, XM_006721664.2:c.696C>T, XM_006721664.1:c.696C>T, XM_024450561.2:c.549C>T, XM_024450561.1:c.549C>T, XM_006721666.2:c.579C>T, XM_006721666.1:c.579C>T, XM_047435297.1:c.549C>T, XM_047435296.1:c.579C>T, XM_047435295.1:c.579C>T, XM_017024126.1:c.303C>T, XM_006721663.1:c.843C>T

Select item 144256688515.

rs1442566885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:79047890 (GRCh38)
17:77043972 (GRCh37)
Canonical SPDI:: NC_000017.11:79047889:G:A
Gene:: C1QTNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000017.11:g.79047890G>A, NC_000017.10:g.77043972G>A, NM_030968.5:c.648G>A, NM_030968.4:c.648G>A, NM_030968.3:c.648G>A, NM_198593.4:c.648G>A, NM_198593.3:c.648G>A, NM_198594.4:c.402G>A, NM_198594.3:c.402G>A, NM_198594.2:c.402G>A, NR_049769.3:n.973G>A, NR_049769.2:n.998G>A, NR_049769.1:n.935G>A, NM_153372.3:c.648G>A, NM_153372.2:c.648G>A, NM_153372.1:c.648G>A, XM_006721664.2:c.795G>A, XM_006721664.1:c.795G>A, XM_024450561.2:c.648G>A, XM_024450561.1:c.648G>A, XM_006721666.2:c.678G>A, XM_006721666.1:c.678G>A, XM_047435297.1:c.648G>A, XM_047435296.1:c.678G>A, XM_047435295.1:c.678G>A, XM_017024126.1:c.402G>A, XM_006721663.1:c.942G>A

Select item 144000749316.

rs1440007493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79047787 (GRCh38)
17:77043869 (GRCh37)
Canonical SPDI:: NC_000017.11:79047786:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.79047787C>T, NC_000017.10:g.77043869C>T, NM_030968.5:c.545C>T, NM_030968.4:c.545C>T, NM_030968.3:c.545C>T, NM_198593.4:c.545C>T, NM_198593.3:c.545C>T, NM_198594.4:c.299C>T, NM_198594.3:c.299C>T, NM_198594.2:c.299C>T, NR_049769.3:n.870C>T, NR_049769.2:n.895C>T, NR_049769.1:n.832C>T, NM_153372.3:c.545C>T, NM_153372.2:c.545C>T, NM_153372.1:c.545C>T, XM_006721664.2:c.692C>T, XM_006721664.1:c.692C>T, XM_024450561.2:c.545C>T, XM_024450561.1:c.545C>T, XM_006721666.2:c.575C>T, XM_006721666.1:c.575C>T, XM_047435297.1:c.545C>T, XM_047435296.1:c.575C>T, XM_047435295.1:c.575C>T, XM_017024126.1:c.299C>T, XM_006721663.1:c.839C>T, NP_112230.1:p.Thr182Ile, NP_940995.1:p.Thr182Ile, NP_940996.1:p.Thr100Ile, NP_699203.1:p.Thr182Ile, XP_006721727.1:p.Thr231Ile, XP_024306329.1:p.Thr182Ile, XP_006721729.1:p.Thr192Ile, XP_047291253.1:p.Thr182Ile, XP_047291252.1:p.Thr192Ile, XP_047291251.1:p.Thr192Ile, XP_016879615.1:p.Thr100Ile, XP_006721726.1:p.Thr280Ile

Select item 143466698917.

rs1434666989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79047821 (GRCh38)
17:77043903 (GRCh37)
Canonical SPDI:: NC_000017.11:79047820:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.79047821C>T, NC_000017.10:g.77043903C>T, NM_030968.5:c.579C>T, NM_030968.4:c.579C>T, NM_030968.3:c.579C>T, NM_198593.4:c.579C>T, NM_198593.3:c.579C>T, NM_198594.4:c.333C>T, NM_198594.3:c.333C>T, NM_198594.2:c.333C>T, NR_049769.3:n.904C>T, NR_049769.2:n.929C>T, NR_049769.1:n.866C>T, NM_153372.3:c.579C>T, NM_153372.2:c.579C>T, NM_153372.1:c.579C>T, XM_006721664.2:c.726C>T, XM_006721664.1:c.726C>T, XM_024450561.2:c.579C>T, XM_024450561.1:c.579C>T, XM_006721666.2:c.609C>T, XM_006721666.1:c.609C>T, XM_047435297.1:c.579C>T, XM_047435296.1:c.609C>T, XM_047435295.1:c.609C>T, XM_017024126.1:c.333C>T, XM_006721663.1:c.873C>T

Select item 143216879618.

rs1432168796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:79047619 (GRCh38)
17:77043701 (GRCh37)
Canonical SPDI:: NC_000017.11:79047618:G:A
Gene:: C1QTNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.79047619G>A, NC_000017.10:g.77043701G>A, NM_030968.5:c.377G>A, NM_030968.4:c.377G>A, NM_030968.3:c.377G>A, NM_198593.4:c.377G>A, NM_198593.3:c.377G>A, NM_198594.4:c.131G>A, NM_198594.3:c.131G>A, NM_198594.2:c.131G>A, NR_049769.3:n.702G>A, NR_049769.2:n.727G>A, NR_049769.1:n.664G>A, NM_153372.3:c.377G>A, NM_153372.2:c.377G>A, NM_153372.1:c.377G>A, XM_006721664.2:c.524G>A, XM_006721664.1:c.524G>A, XM_024450561.2:c.377G>A, XM_024450561.1:c.377G>A, XM_006721666.2:c.407G>A, XM_006721666.1:c.407G>A, XM_047435297.1:c.377G>A, XM_047435296.1:c.407G>A, XM_047435295.1:c.407G>A, XM_017024126.1:c.131G>A, XM_006721663.1:c.671G>A, NP_112230.1:p.Gly126Glu, NP_940995.1:p.Gly126Glu, NP_940996.1:p.Gly44Glu, NP_699203.1:p.Gly126Glu, XP_006721727.1:p.Gly175Glu, XP_024306329.1:p.Gly126Glu, XP_006721729.1:p.Gly136Glu, XP_047291253.1:p.Gly126Glu, XP_047291252.1:p.Gly136Glu, XP_047291251.1:p.Gly136Glu, XP_016879615.1:p.Gly44Glu, XP_006721726.1:p.Gly224Glu

Select item 142998183919.

rs1429981839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:79046611 (GRCh38)
17:77042693 (GRCh37)
Canonical SPDI:: NC_000017.11:79046610:C:T
Gene:: C1QTNF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.79046611C>T, NC_000017.10:g.77042693C>T, NM_030968.5:c.212C>T, NM_030968.4:c.212C>T, NM_030968.3:c.212C>T, NM_198593.4:c.212C>T, NM_198593.3:c.212C>T, NM_198594.4:c.-35C>T, NM_198594.3:c.-35C>T, NM_198594.2:c.-35C>T, NR_049769.3:n.537C>T, NR_049769.2:n.562C>T, NR_049769.1:n.499C>T, NM_153372.3:c.212C>T, NM_153372.2:c.212C>T, NM_153372.1:c.212C>T, XM_006721664.2:c.359C>T, XM_006721664.1:c.359C>T, XM_024450561.2:c.212C>T, XM_024450561.1:c.212C>T, XM_006721666.2:c.242C>T, XM_006721666.1:c.242C>T, XM_047435297.1:c.212C>T, XM_047435296.1:c.242C>T, XM_047435295.1:c.242C>T, XM_017024126.1:c.-35C>T, XM_006721663.1:c.506C>T, NP_112230.1:p.Ser71Phe, NP_940995.1:p.Ser71Phe, NP_699203.1:p.Ser71Phe, XP_006721727.1:p.Ser120Phe, XP_024306329.1:p.Ser71Phe, XP_006721729.1:p.Ser81Phe, XP_047291253.1:p.Ser71Phe, XP_047291252.1:p.Ser81Phe, XP_047291251.1:p.Ser81Phe, XP_006721726.1:p.Ser169Phe

Select item 142856048820.

rs1428560488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:79047887 (GRCh38)
17:77043969 (GRCh37)
Canonical SPDI:: NC_000017.11:79047886:G:A
Gene:: C1QTNF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.79047887G>A, NC_000017.10:g.77043969G>A, NM_030968.5:c.645G>A, NM_030968.4:c.645G>A, NM_030968.3:c.645G>A, NM_198593.4:c.645G>A, NM_198593.3:c.645G>A, NM_198594.4:c.399G>A, NM_198594.3:c.399G>A, NM_198594.2:c.399G>A, NR_049769.3:n.970G>A, NR_049769.2:n.995G>A, NR_049769.1:n.932G>A, NM_153372.3:c.645G>A, NM_153372.2:c.645G>A, NM_153372.1:c.645G>A, XM_006721664.2:c.792G>A, XM_006721664.1:c.792G>A, XM_024450561.2:c.645G>A, XM_024450561.1:c.645G>A, XM_006721666.2:c.675G>A, XM_006721666.1:c.675G>A, XM_047435297.1:c.645G>A, XM_047435296.1:c.675G>A, XM_047435295.1:c.675G>A, XM_017024126.1:c.399G>A, XM_006721663.1:c.939G>A

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