SNP Links for Protein (Select 223029382) - SNP

Links from Protein

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Select item 14906059551.

rs1490605955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:7745993 (GRCh38)
19:7810879 (GRCh37)
Canonical SPDI:: NC_000019.10:7745992:G:A,NC_000019.10:7745992:G:C
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7745993G>A, NC_000019.10:g.7745993G>C, NC_000019.9:g.7810879G>A, NC_000019.9:g.7810879G>C, NG_012167.1:g.6586C>T, NG_012167.1:g.6586C>G, NM_021155.4:c.273C>T, NM_021155.4:c.273C>G, NM_021155.3:c.273C>T, NM_021155.3:c.273C>G, NR_026692.2:n.396C>T, NR_026692.2:n.396C>G, NR_026692.1:n.440C>T, NR_026692.1:n.440C>G, NM_001144897.2:c.273C>T, NM_001144897.2:c.273C>G, NM_001144897.1:c.273C>T, NM_001144897.1:c.273C>G, NM_001144896.2:c.201C>T, NM_001144896.2:c.201C>G, NM_001144896.1:c.201C>T, NM_001144896.1:c.201C>G, NM_001144894.2:c.141C>T, NM_001144894.2:c.141C>G, NM_001144894.1:c.141C>T, NM_001144894.1:c.141C>G, NM_001144895.2:c.273C>T, NM_001144895.2:c.273C>G, NM_001144895.1:c.273C>T, NM_001144895.1:c.273C>G, NM_001144893.2:c.141C>T, NM_001144893.2:c.141C>G, NM_001144893.1:c.141C>T, NM_001144893.1:c.141C>G

Select item 14886354172.

rs1488635417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:7747490 (GRCh38)
19:7812376 (GRCh37)
Canonical SPDI:: NC_000019.10:7747489:T:C
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7747490T>C, NC_000019.9:g.7812376T>C, NG_012167.1:g.5089A>G, NM_021155.4:c.22A>G, NM_021155.3:c.22A>G, NR_026692.2:n.45A>G, NR_026692.1:n.89A>G, NM_001144897.2:c.22A>G, NM_001144897.1:c.22A>G, NM_001144896.2:c.22A>G, NM_001144896.1:c.22A>G, NM_001144894.2:c.22A>G, NM_001144894.1:c.22A>G, NM_001144895.2:c.22A>G, NM_001144895.1:c.22A>G, NM_001144893.2:c.22A>G, NM_001144893.1:c.22A>G, NM_001144899.2:c.22A>G, NM_001144899.1:c.22A>G, NG_068355.1:g.179T>C, NP_066978.1:p.Arg8Gly, NP_001138369.1:p.Arg8Gly, NP_001138368.1:p.Arg8Gly, NP_001138366.1:p.Arg8Gly, NP_001138367.1:p.Arg8Gly, NP_001138365.1:p.Arg8Gly, NP_001138371.1:p.Arg8Gly

Select item 14878781833.

rs1487878183 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 19:7744985 (GRCh38)
19:7809871 (GRCh37)
Canonical SPDI:: NC_000019.10:7744981:CTTCTT:CTT
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7744982CTT[1], NC_000019.9:g.7809868CTT[1], NG_012167.1:g.7592AAG[1], NM_021155.4:c.854AAG[1], NM_021155.3:c.854AAG[1], NR_026692.2:n.977AAG[1], NR_026692.1:n.1021AAG[1], NM_001144897.2:c.854AAG[1], NM_001144897.1:c.854AAG[1], NM_001144896.2:c.782AAG[1], NM_001144896.1:c.782AAG[1], NM_001144894.2:c.722AAG[1], NM_001144894.1:c.722AAG[1], NM_001144895.2:c.578AAG[1], NM_001144895.1:c.578AAG[1], NM_001144893.2:c.446AAG[1], NM_001144893.1:c.446AAG[1], NM_001144899.2:c.371AAG[1], NM_001144899.1:c.371AAG[1], NP_066978.1:p.Glu286del, NP_001138369.1:p.Glu286del, NP_001138368.1:p.Glu262del, NP_001138366.1:p.Glu242del, NP_001138367.1:p.Glu194del, NP_001138365.1:p.Glu150del, NP_001138371.1:p.Glu125del

Select item 14868125384.

rs1486812538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:7744980 (GRCh38)
19:7809866 (GRCh37)
Canonical SPDI:: NC_000019.10:7744979:C:G,NC_000019.10:7744979:C:T
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7744980C>G, NC_000019.10:g.7744980C>T, NC_000019.9:g.7809866C>G, NC_000019.9:g.7809866C>T, NG_012167.1:g.7599G>C, NG_012167.1:g.7599G>A, NM_021155.4:c.861G>C, NM_021155.4:c.861G>A, NM_021155.3:c.861G>C, NM_021155.3:c.861G>A, NR_026692.2:n.984G>C, NR_026692.2:n.984G>A, NR_026692.1:n.1028G>C, NR_026692.1:n.1028G>A, NM_001144897.2:c.861G>C, NM_001144897.2:c.861G>A, NM_001144897.1:c.861G>C, NM_001144897.1:c.861G>A, NM_001144896.2:c.789G>C, NM_001144896.2:c.789G>A, NM_001144896.1:c.789G>C, NM_001144896.1:c.789G>A, NM_001144894.2:c.729G>C, NM_001144894.2:c.729G>A, NM_001144894.1:c.729G>C, NM_001144894.1:c.729G>A, NM_001144895.2:c.585G>C, NM_001144895.2:c.585G>A, NM_001144895.1:c.585G>C, NM_001144895.1:c.585G>A, NM_001144893.2:c.453G>C, NM_001144893.2:c.453G>A, NM_001144893.1:c.453G>C, NM_001144893.1:c.453G>A, NM_001144899.2:c.378G>C, NM_001144899.2:c.378G>A, NM_001144899.1:c.378G>C, NM_001144899.1:c.378G>A

Select item 14826820165.

rs1482682016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:7745692 (GRCh38)
19:7810578 (GRCh37)
Canonical SPDI:: NC_000019.10:7745691:T:A
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.7745692T>A, NC_000019.9:g.7810578T>A, NG_012167.1:g.6887A>T, NM_021155.4:c.574A>T, NM_021155.3:c.574A>T, NR_026692.2:n.697A>T, NR_026692.1:n.741A>T, NM_001144897.2:c.574A>T, NM_001144897.1:c.574A>T, NM_001144896.2:c.502A>T, NM_001144896.1:c.502A>T, NM_001144894.2:c.442A>T, NM_001144894.1:c.442A>T, NP_066978.1:p.Ile192Phe, NP_001138369.1:p.Ile192Phe, NP_001138368.1:p.Ile168Phe, NP_001138366.1:p.Ile148Phe

Select item 14818914336.

rs1481891433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7745912 (GRCh38)
19:7810798 (GRCh37)
Canonical SPDI:: NC_000019.10:7745911:A:G
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00042/12 (TOMMO)
HGVS:: NC_000019.10:g.7745912A>G, NC_000019.9:g.7810798A>G, NG_012167.1:g.6667T>C, NM_021155.4:c.354T>C, NM_021155.3:c.354T>C, NR_026692.2:n.477T>C, NR_026692.1:n.521T>C, NM_001144897.2:c.354T>C, NM_001144897.1:c.354T>C, NM_001144896.2:c.282T>C, NM_001144896.1:c.282T>C, NM_001144894.2:c.222T>C, NM_001144894.1:c.222T>C, NM_001144895.2:c.354T>C, NM_001144895.1:c.354T>C, NM_001144893.2:c.222T>C, NM_001144893.1:c.222T>C

Select item 14776596707.

rs1477659670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:7745066 (GRCh38)
19:7809952 (GRCh37)
Canonical SPDI:: NC_000019.10:7745065:C:A
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.7745066C>A, NC_000019.9:g.7809952C>A, NG_012167.1:g.7513G>T, NM_021155.4:c.775G>T, NM_021155.3:c.775G>T, NR_026692.2:n.898G>T, NR_026692.1:n.942G>T, NM_001144897.2:c.775G>T, NM_001144897.1:c.775G>T, NM_001144896.2:c.703G>T, NM_001144896.1:c.703G>T, NM_001144894.2:c.643G>T, NM_001144894.1:c.643G>T, NM_001144895.2:c.499G>T, NM_001144895.1:c.499G>T, NM_001144893.2:c.367G>T, NM_001144893.1:c.367G>T, NM_001144899.2:c.292G>T, NM_001144899.1:c.292G>T, NP_066978.1:p.Glu259Ter, NP_001138369.1:p.Glu259Ter, NP_001138368.1:p.Glu235Ter, NP_001138366.1:p.Glu215Ter, NP_001138367.1:p.Glu167Ter, NP_001138365.1:p.Glu123Ter, NP_001138371.1:p.Glu98Ter

Select item 14754046618.

rs1475404661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7743084 (GRCh38)
19:7807970 (GRCh37)
Canonical SPDI:: NC_000019.10:7743083:C:T
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000019.10:g.7743084C>T, NC_000019.9:g.7807970C>T, NG_012167.1:g.9495G>A, NM_021155.4:c.1170G>A, NM_021155.3:c.1170G>A, NR_026692.2:n.1293G>A, NR_026692.1:n.1337G>A, NM_001144897.2:c.1152G>A, NM_001144897.1:c.1152G>A, NM_001144896.2:c.1098G>A, NM_001144896.1:c.1098G>A, NM_001144894.2:c.1038G>A, NM_001144894.1:c.1038G>A, NM_001144895.2:c.894G>A, NM_001144895.1:c.894G>A, NM_001144893.2:c.762G>A, NM_001144893.1:c.762G>A, NM_001144899.2:c.687G>A, NM_001144899.1:c.687G>A

Select item 14752842589.

rs1475284258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:7745532 (GRCh38)
19:7810418 (GRCh37)
Canonical SPDI:: NC_000019.10:7745531:A:C
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7745532A>C, NC_000019.9:g.7810418A>C, NG_012167.1:g.7047T>G, NM_021155.4:c.734T>G, NM_021155.3:c.734T>G, NR_026692.2:n.857T>G, NR_026692.1:n.901T>G, NM_001144897.2:c.734T>G, NM_001144897.1:c.734T>G, NM_001144896.2:c.662T>G, NM_001144896.1:c.662T>G, NM_001144894.2:c.602T>G, NM_001144894.1:c.602T>G, NP_066978.1:p.Leu245Arg, NP_001138369.1:p.Leu245Arg, NP_001138368.1:p.Leu221Arg, NP_001138366.1:p.Leu201Arg

Select item 146885089410.

rs1468850894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7745578 (GRCh38)
19:7810464 (GRCh37)
Canonical SPDI:: NC_000019.10:7745577:G:A
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD)
A=0.000566/16 (TOMMO)
HGVS:: NC_000019.10:g.7745578G>A, NC_000019.9:g.7810464G>A, NG_012167.1:g.7001C>T, NM_021155.4:c.688C>T, NM_021155.3:c.688C>T, NR_026692.2:n.811C>T, NR_026692.1:n.855C>T, NM_001144897.2:c.688C>T, NM_001144897.1:c.688C>T, NM_001144896.2:c.616C>T, NM_001144896.1:c.616C>T, NM_001144894.2:c.556C>T, NM_001144894.1:c.556C>T, NP_066978.1:p.Pro230Ser, NP_001138369.1:p.Pro230Ser, NP_001138368.1:p.Pro206Ser, NP_001138366.1:p.Pro186Ser

Select item 146703738011.

rs1467037380 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:7744955 (GRCh38)
19:7809841 (GRCh37)
Canonical SPDI:: NC_000019.10:7744954:TTTT:TTT
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7744958del, NC_000019.9:g.7809844del, NG_012167.1:g.7624del, NM_021155.4:c.886del, NM_021155.3:c.886del, NR_026692.2:n.1009del, NR_026692.1:n.1053del, NM_001144897.2:c.886del, NM_001144897.1:c.886del, NM_001144896.2:c.814del, NM_001144896.1:c.814del, NM_001144894.2:c.754del, NM_001144894.1:c.754del, NM_001144895.2:c.610del, NM_001144895.1:c.610del, NM_001144893.2:c.478del, NM_001144893.1:c.478del, NM_001144899.2:c.403del, NM_001144899.1:c.403del, NP_066978.1:p.Ser296fs, NP_001138369.1:p.Ser296fs, NP_001138368.1:p.Ser272fs, NP_001138366.1:p.Ser252fs, NP_001138367.1:p.Ser204fs, NP_001138365.1:p.Ser160fs, NP_001138371.1:p.Ser135fs

Select item 146527054812.

rs1465270548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:7745883 (GRCh38)
19:7810769 (GRCh37)
Canonical SPDI:: NC_000019.10:7745882:G:C
Gene:: CD209 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7745883G>C, NC_000019.9:g.7810769G>C, NG_012167.1:g.6696C>G, NM_021155.4:c.383C>G, NM_021155.3:c.383C>G, NR_026692.2:n.506C>G, NR_026692.1:n.550C>G, NM_001144897.2:c.383C>G, NM_001144897.1:c.383C>G, NM_001144896.2:c.311C>G, NM_001144896.1:c.311C>G, NM_001144894.2:c.251C>G, NM_001144894.1:c.251C>G, NM_001144895.2:c.383C>G, NM_001144895.1:c.383C>G, NM_001144893.2:c.251C>G, NM_001144893.1:c.251C>G, NP_066978.1:p.Thr128Ser, NP_001138369.1:p.Thr128Ser, NP_001138368.1:p.Thr104Ser, NP_001138366.1:p.Thr84Ser, NP_001138367.1:p.Thr128Ser, NP_001138365.1:p.Thr84Ser

Select item 146392142913.

rs1463921429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7745747 (GRCh38)
19:7810633 (GRCh37)
Canonical SPDI:: NC_000019.10:7745746:C:T
Gene:: CD209 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7745747C>T, NC_000019.9:g.7810633C>T, NG_012167.1:g.6832G>A, NM_021155.4:c.519G>A, NM_021155.3:c.519G>A, NR_026692.2:n.642G>A, NR_026692.1:n.686G>A, NM_001144897.2:c.519G>A, NM_001144897.1:c.519G>A, NM_001144896.2:c.447G>A, NM_001144896.1:c.447G>A, NM_001144894.2:c.387G>A, NM_001144894.1:c.387G>A

Select item 146145195014.

rs1461451950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7743213 (GRCh38)
19:7808099 (GRCh37)
Canonical SPDI:: NC_000019.10:7743212:C:T
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7743213C>T, NC_000019.9:g.7808099C>T, NG_012167.1:g.9366G>A, NM_021155.4:c.1041G>A, NM_021155.3:c.1041G>A, NR_026692.2:n.1164G>A, NR_026692.1:n.1208G>A, NM_001144897.2:c.1023G>A, NM_001144897.1:c.1023G>A, NM_001144896.2:c.969G>A, NM_001144896.1:c.969G>A, NM_001144894.2:c.909G>A, NM_001144894.1:c.909G>A, NM_001144895.2:c.765G>A, NM_001144895.1:c.765G>A, NM_001144893.2:c.633G>A, NM_001144893.1:c.633G>A, NM_001144899.2:c.558G>A, NM_001144899.1:c.558G>A

Select item 145492901215.

rs1454929012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7745087 (GRCh38)
19:7809973 (GRCh37)
Canonical SPDI:: NC_000019.10:7745086:G:A
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7745087G>A, NC_000019.9:g.7809973G>A, NG_012167.1:g.7492C>T, NM_021155.4:c.754C>T, NM_021155.3:c.754C>T, NR_026692.2:n.877C>T, NR_026692.1:n.921C>T, NM_001144897.2:c.754C>T, NM_001144897.1:c.754C>T, NM_001144896.2:c.682C>T, NM_001144896.1:c.682C>T, NM_001144894.2:c.622C>T, NM_001144894.1:c.622C>T, NM_001144895.2:c.478C>T, NM_001144895.1:c.478C>T, NM_001144893.2:c.346C>T, NM_001144893.1:c.346C>T, NM_001144899.2:c.271C>T, NM_001144899.1:c.271C>T

Select item 143988125116.

rs1439881251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7745586 (GRCh38)
19:7810472 (GRCh37)
Canonical SPDI:: NC_000019.10:7745585:C:T
Gene:: CD209 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000169/2 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.7745586C>T, NC_000019.9:g.7810472C>T, NG_012167.1:g.6993G>A, NM_021155.4:c.680G>A, NM_021155.3:c.680G>A, NR_026692.2:n.803G>A, NR_026692.1:n.847G>A, NM_001144897.2:c.680G>A, NM_001144897.1:c.680G>A, NM_001144896.2:c.608G>A, NM_001144896.1:c.608G>A, NM_001144894.2:c.548G>A, NM_001144894.1:c.548G>A, NP_066978.1:p.Gly227Asp, NP_001138369.1:p.Gly227Asp, NP_001138368.1:p.Gly203Asp, NP_001138366.1:p.Gly183Asp

Select item 143984486017.

rs1439844860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:7743169 (GRCh38)
19:7808055 (GRCh37)
Canonical SPDI:: NC_000019.10:7743168:T:A,NC_000019.10:7743168:T:C
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7743169T>A, NC_000019.10:g.7743169T>C, NC_000019.9:g.7808055T>A, NC_000019.9:g.7808055T>C, NG_012167.1:g.9410A>T, NG_012167.1:g.9410A>G, NM_021155.4:c.1085A>T, NM_021155.4:c.1085A>G, NM_021155.3:c.1085A>T, NM_021155.3:c.1085A>G, NR_026692.2:n.1208A>T, NR_026692.2:n.1208A>G, NR_026692.1:n.1252A>T, NR_026692.1:n.1252A>G, NM_001144897.2:c.1067A>T, NM_001144897.2:c.1067A>G, NM_001144897.1:c.1067A>T, NM_001144897.1:c.1067A>G, NM_001144896.2:c.1013A>T, NM_001144896.2:c.1013A>G, NM_001144896.1:c.1013A>T, NM_001144896.1:c.1013A>G, NM_001144894.2:c.953A>T, NM_001144894.2:c.953A>G, NM_001144894.1:c.953A>T, NM_001144894.1:c.953A>G, NM_001144895.2:c.809A>T, NM_001144895.2:c.809A>G, NM_001144895.1:c.809A>T, NM_001144895.1:c.809A>G, NM_001144893.2:c.677A>T, NM_001144893.2:c.677A>G, NM_001144893.1:c.677A>T, NM_001144893.1:c.677A>G, NM_001144899.2:c.602A>T, NM_001144899.2:c.602A>G, NM_001144899.1:c.602A>T, NM_001144899.1:c.602A>G, NP_066978.1:p.Asn362Ile, NP_066978.1:p.Asn362Ser, NP_001138369.1:p.Asn356Ile, NP_001138369.1:p.Asn356Ser, NP_001138368.1:p.Asn338Ile, NP_001138368.1:p.Asn338Ser, NP_001138366.1:p.Asn318Ile, NP_001138366.1:p.Asn318Ser, NP_001138367.1:p.Asn270Ile, NP_001138367.1:p.Asn270Ser, NP_001138365.1:p.Asn226Ile, NP_001138365.1:p.Asn226Ser, NP_001138371.1:p.Asn201Ile, NP_001138371.1:p.Asn201Ser

Select item 143754546018.

rs1437545460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7745705 (GRCh38)
19:7810591 (GRCh37)
Canonical SPDI:: NC_000019.10:7745704:A:G
Gene:: CD209 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.002088/35 (TOMMO)
HGVS:: NC_000019.10:g.7745705A>G, NC_000019.9:g.7810591A>G, NG_012167.1:g.6874T>C, NM_021155.4:c.561T>C, NM_021155.3:c.561T>C, NR_026692.2:n.684T>C, NR_026692.1:n.728T>C, NM_001144897.2:c.561T>C, NM_001144897.1:c.561T>C, NM_001144896.2:c.489T>C, NM_001144896.1:c.489T>C, NM_001144894.2:c.429T>C, NM_001144894.1:c.429T>C

Select item 143482265019.

rs1434822650 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAGATCTCCTG [Show Flanks]
Chromosome:: 19:7745542 (GRCh38)
19:7810429 (GRCh37)
Canonical SPDI:: NC_000019.10:7745542:CTCCTGGTAGATCTCCTG:CTCCTGGTAGATCTCCTGGTAGATCTCCTG
Gene:: CD209 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTCCTGGTAGATCTCCTGGTAGATCTCCTG=0./0 (ALFA)
CTCCTGGTAGAT=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.7745549_7745560dup, NC_000019.9:g.7810435_7810446dup, NG_012167.1:g.7025_7036dup, NM_021155.4:c.712_723dup, NM_021155.3:c.712_723dup, NR_026692.2:n.835_846dup, NR_026692.1:n.879_890dup, NM_001144897.2:c.712_723dup, NM_001144897.1:c.712_723dup, NM_001144896.2:c.640_651dup, NM_001144896.1:c.640_651dup, NM_001144894.2:c.580_591dup, NM_001144894.1:c.580_591dup, NP_066978.1:p.Ile238_Glu241dup, NP_001138369.1:p.Ile238_Glu241dup, NP_001138368.1:p.Ile214_Glu217dup, NP_001138366.1:p.Ile194_Glu197dup

Select item 143456163220.

rs1434561632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:7743070 (GRCh38)
19:7807956 (GRCh37)
Canonical SPDI:: NC_000019.10:7743069:G:T
Gene:: CD209 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.7743070G>T, NC_000019.9:g.7807956G>T, NG_012167.1:g.9509C>A, NM_021155.4:c.1184C>A, NM_021155.3:c.1184C>A, NR_026692.2:n.1307C>A, NR_026692.1:n.1351C>A, NM_001144897.2:c.1166C>A, NM_001144897.1:c.1166C>A, NM_001144896.2:c.1112C>A, NM_001144896.1:c.1112C>A, NM_001144894.2:c.1052C>A, NM_001144894.1:c.1052C>A, NM_001144895.2:c.908C>A, NM_001144895.1:c.908C>A, NM_001144893.2:c.776C>A, NM_001144893.1:c.776C>A, NM_001144899.2:c.701C>A, NM_001144899.1:c.701C>A, NP_066978.1:p.Ala395Asp, NP_001138369.1:p.Ala389Asp, NP_001138368.1:p.Ala371Asp, NP_001138366.1:p.Ala351Asp, NP_001138367.1:p.Ala303Asp, NP_001138365.1:p.Ala259Asp, NP_001138371.1:p.Ala234Asp

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