SNP Links for Protein (Select 767902427) - SNP

Links from Protein

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Select item 14909540131.

rs1490954013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16205574 (GRCh38)
1:16532069 (GRCh37)
Canonical SPDI:: NC_000001.11:16205573:G:A
Gene:: ARHGEF19 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16205574G>A, NC_000001.10:g.16532069G>A, NW_025791756.1:g.9711G>A, NM_153213.5:c.1545C>T, NM_153213.4:c.1545C>T, NM_153213.3:c.1545C>T, XM_011540706.4:c.1545C>T, XM_011540706.3:c.1545C>T, XM_011540706.2:c.1545C>T, XM_011540706.1:c.1545C>T

Select item 14899719132.

rs1489971913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16208190 (GRCh38)
1:16534685 (GRCh37)
Canonical SPDI:: NC_000001.11:16208189:G:A
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.16208190G>A, NC_000001.10:g.16534685G>A, NW_025791756.1:g.12327G>A, NM_153213.5:c.448C>T, NM_153213.4:c.448C>T, NM_153213.3:c.448C>T, XM_011540706.4:c.448C>T, XM_011540706.3:c.448C>T, XM_011540706.2:c.448C>T, XM_011540706.1:c.448C>T, XR_946544.2:n.628C>T, XR_946544.1:n.647C>T, NP_694945.2:p.Pro150Ser, XP_011539008.1:p.Pro150Ser

Select item 14890997053.

rs1489099705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:16208870 (GRCh38)
1:16535365 (GRCh37)
Canonical SPDI:: NC_000001.11:16208869:C:T
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000001.11:g.16208870C>T, NC_000001.10:g.16535365C>T, NW_025791756.1:g.13007C>T, NM_153213.5:c.185G>A, NM_153213.4:c.185G>A, NM_153213.3:c.185G>A, XM_011540706.4:c.185G>A, XM_011540706.3:c.185G>A, XM_011540706.2:c.185G>A, XM_011540706.1:c.185G>A, XR_946544.2:n.365G>A, XR_946544.1:n.384G>A, NP_694945.2:p.Gly62Asp, XP_011539008.1:p.Gly62Asp

Select item 14890746254.

rs1489074625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:16206012 (GRCh38)
1:16532507 (GRCh37)
Canonical SPDI:: NC_000001.11:16206011:T:C
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.16206012T>C, NC_000001.10:g.16532507T>C, NW_025791756.1:g.10149T>C, NM_153213.5:c.1370A>G, NM_153213.4:c.1370A>G, NM_153213.3:c.1370A>G, XM_011540706.4:c.1370A>G, XM_011540706.3:c.1370A>G, XM_011540706.2:c.1370A>G, XM_011540706.1:c.1370A>G, XR_946544.2:n.1550A>G, XR_946544.1:n.1569A>G, NP_694945.2:p.Asp457Gly, XP_011539008.1:p.Asp457Gly

Select item 14886892525.

rs1488689252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:16206267 (GRCh38)
1:16532762 (GRCh37)
Canonical SPDI:: NC_000001.11:16206266:C:T
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.16206267C>T, NC_000001.10:g.16532762C>T, NW_025791756.1:g.10404C>T, NM_153213.5:c.1211G>A, NM_153213.4:c.1211G>A, NM_153213.3:c.1211G>A, XM_011540706.4:c.1211G>A, XM_011540706.3:c.1211G>A, XM_011540706.2:c.1211G>A, XM_011540706.1:c.1211G>A, XR_946544.2:n.1391G>A, XR_946544.1:n.1410G>A, NP_694945.2:p.Gly404Asp, XP_011539008.1:p.Gly404Asp

Select item 14870948346.

rs1487094834 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:16207146 (GRCh38)
1:16533641 (GRCh37)
Canonical SPDI:: NC_000001.11:16207138:CCTCCTCCTC:CCTCCTC
Gene:: ARHGEF19 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCTCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16207140CTC[2], NC_000001.10:g.16533635CTC[2], NW_025791756.1:g.11277CTC[2], NM_153213.5:c.938AGG[2], NM_153213.4:c.938AGG[2], NM_153213.3:c.938AGG[2], XM_011540706.4:c.938AGG[2], XM_011540706.3:c.938AGG[2], XM_011540706.2:c.938AGG[2], XM_011540706.1:c.938AGG[2], XR_946544.2:n.1118AGG[2], XR_946544.1:n.1137AGG[2], NP_694945.2:p.Glu315del, XP_011539008.1:p.Glu315del

Select item 14859122287.

rs1485912228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:16206297 (GRCh38)
1:16532792 (GRCh37)
Canonical SPDI:: NC_000001.11:16206296:C:A
Gene:: ARHGEF19 (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_000001.11:g.16206297C>A, NC_000001.10:g.16532792C>A, NW_025791756.1:g.10434C>A, NM_153213.5:c.1181G>T, NM_153213.4:c.1181G>T, NM_153213.3:c.1181G>T, XM_011540706.4:c.1181G>T, XM_011540706.3:c.1181G>T, XM_011540706.2:c.1181G>T, XM_011540706.1:c.1181G>T, XR_946544.2:n.1361G>T, XR_946544.1:n.1380G>T, NP_694945.2:p.Ser394Ile, XP_011539008.1:p.Ser394Ile

Select item 14822214828.

rs1482221482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:16199239 (GRCh38)
1:16525734 (GRCh37)
Canonical SPDI:: NC_000001.11:16199238:T:A
Gene:: ARHGEF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.16199239T>A, NC_000001.10:g.16525734T>A, NW_025791756.1:g.3376T>A, NM_153213.5:c.2162A>T, NM_153213.4:c.2162A>T, NM_153213.3:c.2162A>T, XM_011540706.4:c.2162A>T, XM_011540706.3:c.2162A>T, XM_011540706.2:c.2162A>T, XM_011540706.1:c.2162A>T, NP_694945.2:p.Gln721Leu, XP_011539008.1:p.Gln721Leu

Select item 14815689829.

rs1481568982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:16198732 (GRCh38)
1:16525227 (GRCh37)
Canonical SPDI:: NC_000001.11:16198731:C:G
Gene:: ARHGEF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000223/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.16198732C>G, NC_000001.10:g.16525227C>G, NW_025791756.1:g.2869C>G, NM_153213.5:c.2264G>C, NM_153213.4:c.2264G>C, NM_153213.3:c.2264G>C, XM_011540706.4:c.2264G>C, XM_011540706.3:c.2264G>C, XM_011540706.2:c.2264G>C, XM_011540706.1:c.2264G>C, NP_694945.2:p.Gly755Ala, XP_011539008.1:p.Gly755Ala

Select item 148096532110.

rs1480965321 [Homo sapiens]

Variant type:: DEL
Alleles:: ACTCCTC>- [Show Flanks]
Chromosome:: 1:16205621 (GRCh38)
1:16532116 (GRCh37)
Canonical SPDI:: NC_000001.11:16205620:ACTCCTC:
Gene:: ARHGEF19 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000447/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.16205621_16205627del, NC_000001.10:g.16532116_16532122del, NW_025791756.1:g.9758_9764del, NM_153213.5:c.1492_1498del, NM_153213.4:c.1492_1498del, NM_153213.3:c.1492_1498del, XM_011540706.4:c.1492_1498del, XM_011540706.3:c.1492_1498del, XM_011540706.2:c.1492_1498del, XM_011540706.1:c.1492_1498del, NP_694945.2:p.Glu498fs, XP_011539008.1:p.Glu498fs

Select item 148039798511.

rs1480397985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:16205983 (GRCh38)
1:16532478 (GRCh37)
Canonical SPDI:: NC_000001.11:16205982:G:T
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.16205983G>T, NC_000001.10:g.16532478G>T, NW_025791756.1:g.10120G>T, NM_153213.5:c.1399C>A, NM_153213.4:c.1399C>A, NM_153213.3:c.1399C>A, XM_011540706.4:c.1399C>A, XM_011540706.3:c.1399C>A, XM_011540706.2:c.1399C>A, XM_011540706.1:c.1399C>A, XR_946544.2:n.1579C>A, XR_946544.1:n.1598C>A, NP_694945.2:p.Leu467Met, XP_011539008.1:p.Leu467Met

Select item 147973029012.

rs1479730290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:16207982 (GRCh38)
1:16534477 (GRCh37)
Canonical SPDI:: NC_000001.11:16207981:G:C
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.16207982G>C, NC_000001.10:g.16534477G>C, NW_025791756.1:g.12119G>C, NM_153213.5:c.656C>G, NM_153213.4:c.656C>G, NM_153213.3:c.656C>G, XM_011540706.4:c.656C>G, XM_011540706.3:c.656C>G, XM_011540706.2:c.656C>G, XM_011540706.1:c.656C>G, XR_946544.2:n.836C>G, XR_946544.1:n.855C>G, NP_694945.2:p.Ala219Gly, XP_011539008.1:p.Ala219Gly

Select item 147925111913.

rs1479251119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:16205112 (GRCh38)
1:16531607 (GRCh37)
Canonical SPDI:: NC_000001.11:16205111:C:A,NC_000001.11:16205111:C:T
Gene:: ARHGEF19 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.16205112C>A, NC_000001.11:g.16205112C>T, NC_000001.10:g.16531607C>A, NC_000001.10:g.16531607C>T, NW_025791756.1:g.9249C>A, NW_025791756.1:g.9249C>T, NM_153213.5:c.1721G>T, NM_153213.5:c.1721G>A, NM_153213.4:c.1721G>T, NM_153213.4:c.1721G>A, NM_153213.3:c.1721G>T, NM_153213.3:c.1721G>A, XM_011540706.4:c.1721G>T, XM_011540706.4:c.1721G>A, XM_011540706.3:c.1721G>T, XM_011540706.3:c.1721G>A, XM_011540706.2:c.1721G>T, XM_011540706.2:c.1721G>A, XM_011540706.1:c.1721G>T, XM_011540706.1:c.1721G>A, NP_694945.2:p.Ser574Ile, NP_694945.2:p.Ser574Asn, XP_011539008.1:p.Ser574Ile, XP_011539008.1:p.Ser574Asn

Select item 147896102614.

rs1478961026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16206278 (GRCh38)
1:16532773 (GRCh37)
Canonical SPDI:: NC_000001.11:16206277:G:A
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.16206278G>A, NC_000001.10:g.16532773G>A, NW_025791756.1:g.10415G>A, NM_153213.5:c.1200C>T, NM_153213.4:c.1200C>T, NM_153213.3:c.1200C>T, XM_011540706.4:c.1200C>T, XM_011540706.3:c.1200C>T, XM_011540706.2:c.1200C>T, XM_011540706.1:c.1200C>T, XR_946544.2:n.1380C>T, XR_946544.1:n.1399C>T

Select item 147859609315.

rs1478596093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:16205968 (GRCh38)
1:16532463 (GRCh37)
Canonical SPDI:: NC_000001.11:16205967:T:C
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.16205968T>C, NC_000001.10:g.16532463T>C, NW_025791756.1:g.10105T>C, NM_153213.5:c.1414A>G, NM_153213.4:c.1414A>G, NM_153213.3:c.1414A>G, XM_011540706.4:c.1414A>G, XM_011540706.3:c.1414A>G, XM_011540706.2:c.1414A>G, XM_011540706.1:c.1414A>G, XR_946544.2:n.1594A>G, XR_946544.1:n.1613A>G, NP_694945.2:p.Asn472Asp, XP_011539008.1:p.Asn472Asp

Select item 147761445016.

rs1477614450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:16206202 (GRCh38)
1:16532697 (GRCh37)
Canonical SPDI:: NC_000001.11:16206201:C:T
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.16206202C>T, NC_000001.10:g.16532697C>T, NW_025791756.1:g.10339C>T, NM_153213.5:c.1276G>A, NM_153213.4:c.1276G>A, NM_153213.3:c.1276G>A, XM_011540706.4:c.1276G>A, XM_011540706.3:c.1276G>A, XM_011540706.2:c.1276G>A, XM_011540706.1:c.1276G>A, XR_946544.2:n.1456G>A, XR_946544.1:n.1475G>A, NP_694945.2:p.Glu426Lys, XP_011539008.1:p.Glu426Lys

Select item 147747290017.

rs1477472900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16207036 (GRCh38)
1:16533531 (GRCh37)
Canonical SPDI:: NC_000001.11:16207035:G:A
Gene:: ARHGEF19 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.16207036G>A, NC_000001.10:g.16533531G>A, NW_025791756.1:g.11173G>A, NM_153213.5:c.1049C>T, NM_153213.4:c.1049C>T, NM_153213.3:c.1049C>T, XM_011540706.4:c.1049C>T, XM_011540706.3:c.1049C>T, XM_011540706.2:c.1049C>T, XM_011540706.1:c.1049C>T, XR_946544.2:n.1229C>T, XR_946544.1:n.1248C>T, NP_694945.2:p.Ser350Phe, XP_011539008.1:p.Ser350Phe

Select item 147590597318.

rs1475905973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:16198654 (GRCh38)
1:16525149 (GRCh37)
Canonical SPDI:: NC_000001.11:16198653:A:C
Gene:: ARHGEF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.16198654A>C, NC_000001.10:g.16525149A>C, NW_025791756.1:g.2791A>C, NM_153213.5:c.2342T>G, NM_153213.4:c.2342T>G, NM_153213.3:c.2342T>G, XM_011540706.4:c.2342T>G, XM_011540706.3:c.2342T>G, XM_011540706.2:c.2342T>G, XM_011540706.1:c.2342T>G, NP_694945.2:p.Leu781Arg, XP_011539008.1:p.Leu781Arg

Select item 147566857719.

rs1475668577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:16207090 (GRCh38)
1:16533585 (GRCh37)
Canonical SPDI:: NC_000001.11:16207089:C:A,NC_000001.11:16207089:C:G,NC_000001.11:16207089:C:T
Gene:: ARHGEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000021/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.16207090C>A, NC_000001.11:g.16207090C>G, NC_000001.11:g.16207090C>T, NC_000001.10:g.16533585C>A, NC_000001.10:g.16533585C>G, NC_000001.10:g.16533585C>T, NW_025791756.1:g.11227C>A, NW_025791756.1:g.11227C>G, NW_025791756.1:g.11227C>T, NM_153213.5:c.995G>T, NM_153213.5:c.995G>C, NM_153213.5:c.995G>A, NM_153213.4:c.995G>T, NM_153213.4:c.995G>C, NM_153213.4:c.995G>A, NM_153213.3:c.995G>T, NM_153213.3:c.995G>C, NM_153213.3:c.995G>A, XM_011540706.4:c.995G>T, XM_011540706.4:c.995G>C, XM_011540706.4:c.995G>A, XM_011540706.3:c.995G>T, XM_011540706.3:c.995G>C, XM_011540706.3:c.995G>A, XM_011540706.2:c.995G>T, XM_011540706.2:c.995G>C, XM_011540706.2:c.995G>A, XM_011540706.1:c.995G>T, XM_011540706.1:c.995G>C, XM_011540706.1:c.995G>A, XR_946544.2:n.1175G>T, XR_946544.2:n.1175G>C, XR_946544.2:n.1175G>A, XR_946544.1:n.1194G>T, XR_946544.1:n.1194G>C, XR_946544.1:n.1194G>A, NP_694945.2:p.Arg332Leu, NP_694945.2:p.Arg332Pro, NP_694945.2:p.Arg332Gln, XP_011539008.1:p.Arg332Leu, XP_011539008.1:p.Arg332Pro, XP_011539008.1:p.Arg332Gln

Select item 147565781720.

rs1475657817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:16207973 (GRCh38)
1:16534468 (GRCh37)
Canonical SPDI:: NC_000001.11:16207972:G:A,NC_000001.11:16207972:G:T
Gene:: ARHGEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.16207973G>A, NC_000001.11:g.16207973G>T, NC_000001.10:g.16534468G>A, NC_000001.10:g.16534468G>T, NW_025791756.1:g.12110G>A, NW_025791756.1:g.12110G>T, NM_153213.5:c.665C>T, NM_153213.5:c.665C>A, NM_153213.4:c.665C>T, NM_153213.4:c.665C>A, NM_153213.3:c.665C>T, NM_153213.3:c.665C>A, XM_011540706.4:c.665C>T, XM_011540706.4:c.665C>A, XM_011540706.3:c.665C>T, XM_011540706.3:c.665C>A, XM_011540706.2:c.665C>T, XM_011540706.2:c.665C>A, XM_011540706.1:c.665C>T, XM_011540706.1:c.665C>A, XR_946544.2:n.845C>T, XR_946544.2:n.845C>A, XR_946544.1:n.864C>T, XR_946544.1:n.864C>A, NP_694945.2:p.Ser222Phe, NP_694945.2:p.Ser222Tyr, XP_011539008.1:p.Ser222Phe, XP_011539008.1:p.Ser222Tyr

dbSNP

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