SNP Links for Gene (Select 642559) - SNP

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Select item 14915542351.

rs1491554235 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:8136563 (GRCh38)
12:8289159 (GRCh37)
Canonical SPDI:: NC_000012.12:8136562:CA:
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.8136563_8136564del, NC_000012.11:g.8289159_8289160del

Select item 14912595602.

rs1491259560 has merged into rs35915549 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:8133511 (GRCh38)
12:8286107 (GRCh37)
Canonical SPDI:: NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:8133500:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.0639/237 (TWINSUK)
T=0.0659/254 (ALSPAC)
T=0.1717/860 (1000Genomes)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000012.12:g.8133511_8133514del, NC_000012.12:g.8133512_8133514del, NC_000012.12:g.8133513_8133514del, NC_000012.12:g.8133514del, NC_000012.12:g.8133514dup, NC_000012.12:g.8133513_8133514dup, NC_000012.11:g.8286107_8286110del, NC_000012.11:g.8286108_8286110del, NC_000012.11:g.8286109_8286110del, NC_000012.11:g.8286110del, NC_000012.11:g.8286110dup, NC_000012.11:g.8286109_8286110dup

Select item 14911438143.

rs1491143814 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 12:8136563 (GRCh38)
12:8289160 (GRCh37)
Canonical SPDI:: NC_000012.12:8136563:A:ATAA
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAA=0./0 (ALFA)
ATA=0.00002/2 (GnomAD)
HGVS:: NC_000012.12:g.8136564_8136565insTAA, NC_000012.11:g.8289160_8289161insTAA

Select item 14911062224.

rs1491106222 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:8133500 (GRCh38)
12:8286096 (GRCh37)
Canonical SPDI:: NC_000012.12:8133499:AT:
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.8133500_8133501del, NC_000012.11:g.8286096_8286097del

Select item 14899340375.

rs1489934037 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14897218276.

rs1489721827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8134825 (GRCh38)
12:8287421 (GRCh37)
Canonical SPDI:: NC_000012.12:8134824:G:A
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8134825G>A, NC_000012.11:g.8287421G>A, NR_036440.1:n.28C>T

Select item 14896142357.

rs1489614235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8135478 (GRCh38)
12:8288074 (GRCh37)
Canonical SPDI:: NC_000012.12:8135477:G:T
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8135478G>T, NC_000012.11:g.8288074G>T

Select item 14892016648.

rs1489201664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:8134901 (GRCh38)
12:8287497 (GRCh37)
Canonical SPDI:: NC_000012.12:8134900:T:A
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8134901T>A, NC_000012.11:g.8287497T>A

Select item 14883920209.

rs1488392020 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 12:8134981 (GRCh38)
12:8287578 (GRCh37)
Canonical SPDI:: NC_000012.12:8134981::C,NC_000012.12:8134981::G
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.8134981_8134982insC, NC_000012.12:g.8134981_8134982insG, NC_000012.11:g.8287577_8287578insC, NC_000012.11:g.8287577_8287578insG

Select item 148593069010.

rs1485930690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8134354 (GRCh38)
12:8286950 (GRCh37)
Canonical SPDI:: NC_000012.12:8134353:A:G
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8134354A>G, NC_000012.11:g.8286950A>G, NR_036440.1:n.499T>C

Select item 148564344011.

rs1485643440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8136034 (GRCh38)
12:8288630 (GRCh37)
Canonical SPDI:: NC_000012.12:8136033:G:T
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.8136034G>T, NC_000012.11:g.8288630G>T

Select item 148486023812.

rs1484860238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8136840 (GRCh38)
12:8289436 (GRCh37)
Canonical SPDI:: NC_000012.12:8136839:C:G
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8136840C>G, NC_000012.11:g.8289436C>G, NM_016184.4:c.503C>G, NM_016184.3:c.503C>G, XM_011520684.3:c.392C>G, XM_011520684.2:c.392C>G, XM_011520684.1:c.392C>G, XM_017019382.3:c.218C>G, XM_017019382.2:c.218C>G, XM_017019382.1:c.218C>G, NM_194450.3:c.404C>G, NM_194450.2:c.404C>G, NM_194447.3:c.386C>G, NM_194447.2:c.386C>G, NM_194448.3:c.287C>G, NM_194448.2:c.287C>G, NP_057268.1:p.Ser168Ter, XP_011518986.1:p.Ser131Ter, XP_016874871.1:p.Ser73Ter, NP_919432.1:p.Ser135Ter, NP_919429.2:p.Ser129Ter, NP_919430.1:p.Ser96Ter

Select item 148447289213.

rs1484472892 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:8134454 (GRCh38)
12:8287050 (GRCh37)
Canonical SPDI:: NC_000012.12:8134453:GGG:GG
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8134456del, NC_000012.11:g.8287052del, NR_036440.1:n.399del

Select item 148444854614.

rs1484448546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8135541 (GRCh38)
12:8288137 (GRCh37)
Canonical SPDI:: NC_000012.12:8135540:G:A
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_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_000012.12:g.8135541G>A, NC_000012.11:g.8288137G>A

Select item 148443909315.

rs1484439093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:8135698 (GRCh38)
12:8288294 (GRCh37)
Canonical SPDI:: NC_000012.12:8135697:G:C
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.8135698G>C, NC_000012.11:g.8288294G>C, NM_016184.4:c.412G>C, NM_016184.3:c.412G>C, XM_011520684.3:c.301G>C, XM_011520684.2:c.301G>C, XM_011520684.1:c.301G>C, XM_017019382.3:c.127G>C, XM_017019382.2:c.127G>C, XM_017019382.1:c.127G>C, NM_194450.3:c.313G>C, NM_194450.2:c.313G>C, NM_194447.3:c.295G>C, NM_194447.2:c.295G>C, NM_194448.3:c.196G>C, NM_194448.2:c.196G>C, NP_057268.1:p.Glu138Gln, XP_011518986.1:p.Glu101Gln, XP_016874871.1:p.Glu43Gln, NP_919432.1:p.Glu105Gln, NP_919429.2:p.Glu99Gln, NP_919430.1:p.Glu66Gln

Select item 148407764416.

rs1484077644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:8136343 (GRCh38)
12:8288939 (GRCh37)
Canonical SPDI:: NC_000012.12:8136342:T:A
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.8136343T>A, NC_000012.11:g.8288939T>A

Select item 148393800717.

rs1483938007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:8135036 (GRCh38)
12:8287632 (GRCh37)
Canonical SPDI:: NC_000012.12:8135035:A:T
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00008/1 (GnomAD)
HGVS:: NC_000012.12:g.8135036A>T, NC_000012.11:g.8287632A>T

Select item 148310101618.

rs1483101016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:8136765 (GRCh38)
12:8289361 (GRCh37)
Canonical SPDI:: NC_000012.12:8136764:G:C
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8136765G>C, NC_000012.11:g.8289361G>C

Select item 148243579719.

rs1482435797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TGTTTTTTTTTTTTTTT,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:8134986 (GRCh38)
12:8287583 (GRCh37)
Canonical SPDI:: NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTGTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8134986:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.8134995dup, NC_000012.12:g.8134987_8134995T[10]GTTTTTTTTTTTTTTT[1], NC_000012.12:g.8134994_8134995dup, NC_000012.12:g.8134993_8134995dup, NC_000012.12:g.8134992_8134995dup, NC_000012.12:g.8134991_8134995dup, NC_000012.12:g.8134990_8134995dup, NC_000012.12:g.8134989_8134995dup, NC_000012.12:g.8134988_8134995dup, NC_000012.12:g.8134987_8134995dup, NC_000012.12:g.8134995_8134996insTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTT, NC_000012.12:g.8134987_8134995T[22]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTT, NC_000012.12:g.8134987_8134995T[23]GTTTTTTTTTTTTTTTT[1], NC_000012.12:g.8134987_8134995T[23]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134987_8134995T[26]GTTTTTTTTTTTTTTTT[1], NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134987_8134995T[27]GTTTTTTTTTTTTTTTT[1], NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134987_8134995T[32]GTTTTTTTTTTT[1], NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.8134995_8134996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591dup, NC_000012.11:g.8287583_8287591T[10]GTTTTTTTTTTTTTTT[1], NC_000012.11:g.8287590_8287591dup, NC_000012.11:g.8287589_8287591dup, NC_000012.11:g.8287588_8287591dup, NC_000012.11:g.8287587_8287591dup, NC_000012.11:g.8287586_8287591dup, NC_000012.11:g.8287585_8287591dup, NC_000012.11:g.8287584_8287591dup, NC_000012.11:g.8287583_8287591dup, NC_000012.11:g.8287591_8287592insTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTT, NC_000012.11:g.8287583_8287591T[22]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTT, NC_000012.11:g.8287583_8287591T[23]GTTTTTTTTTTTTTTTT[1], NC_000012.11:g.8287583_8287591T[23]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287583_8287591T[26]GTTTTTTTTTTTTTTTT[1], NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287583_8287591T[27]GTTTTTTTTTTTTTTTT[1], NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287583_8287591T[32]GTTTTTTTTTTT[1], NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.8287591_8287592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148198554520.

rs1481985545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8133409 (GRCh38)
12:8286005 (GRCh37)
Canonical SPDI:: NC_000012.12:8133408:A:G
Gene:: CLEC4A (Varview), POU5F1P3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.8133409A>G, NC_000012.11:g.8286005A>G

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