SNP Links for Protein (Select 148664205) - SNP

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Links from Protein

Items: 1 to 20 of 420

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Select item 14907279701.

rs1490727970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:124754307 (GRCh38)
11:124624203 (GRCh37)
Canonical SPDI:: NC_000011.10:124754306:A:G
Gene:: ESAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124754307A>G, NC_000011.9:g.124624203A>G, NG_056436.1:g.35A>G, NM_138961.3:c.764T>C, NM_138961.2:c.764T>C, NP_620411.2:p.Val255Ala

Select item 14901469292.

rs1490146929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:124758368 (GRCh38)
11:124628264 (GRCh37)
Canonical SPDI:: NC_000011.10:124758367:T:A,NC_000011.10:124758367:T:C
Gene:: ESAM (Varview), ESAM-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124758368T>A, NC_000011.10:g.124758368T>C, NC_000011.9:g.124628264T>A, NC_000011.9:g.124628264T>C, NM_138961.3:c.230A>T, NM_138961.3:c.230A>G, NM_138961.2:c.230A>T, NM_138961.2:c.230A>G, NP_620411.2:p.Gln77Leu, NP_620411.2:p.Gln77Arg

Select item 14863987883.

rs1486398788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124754316 (GRCh38)
11:124624212 (GRCh37)
Canonical SPDI:: NC_000011.10:124754315:C:T
Gene:: ESAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124754316C>T, NC_000011.9:g.124624212C>T, NG_056436.1:g.44C>T, NM_138961.3:c.755G>A, NM_138961.2:c.755G>A, NP_620411.2:p.Gly252Glu

Select item 14847945294.

rs1484794529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124753812 (GRCh38)
11:124623708 (GRCh37)
Canonical SPDI:: NC_000011.10:124753811:C:T
Gene:: VSIG2 (Varview), ESAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.124753812C>T, NC_000011.9:g.124623708C>T, NM_138961.3:c.1007G>A, NM_138961.2:c.1007G>A, NP_620411.2:p.Ser336Asn

Select item 14784547565.

rs1478454756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:124753715 (GRCh38)
11:124623611 (GRCh37)
Canonical SPDI:: NC_000011.10:124753714:A:C,NC_000011.10:124753714:A:T
Gene:: VSIG2 (Varview), ESAM (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124753715A>C, NC_000011.10:g.124753715A>T, NC_000011.9:g.124623611A>C, NC_000011.9:g.124623611A>T, NM_138961.3:c.1104T>G, NM_138961.3:c.1104T>A, NM_138961.2:c.1104T>G, NM_138961.2:c.1104T>A

Select item 14706445776.

rs1470644577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:124756286 (GRCh38)
11:124626182 (GRCh37)
Canonical SPDI:: NC_000011.10:124756285:A:C
Gene:: ESAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.124756286A>C, NC_000011.9:g.124626182A>C, NM_138961.3:c.528T>G, NM_138961.2:c.528T>G

Select item 14700361327.

rs1470036132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:124753723 (GRCh38)
11:124623619 (GRCh37)
Canonical SPDI:: NC_000011.10:124753722:A:T
Gene:: VSIG2 (Varview), ESAM (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.124753723A>T, NC_000011.9:g.124623619A>T, NM_138961.3:c.1096T>A, NM_138961.2:c.1096T>A, NP_620411.2:p.Ser366Thr

Select item 14700022958.

rs1470002295 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 11:124758520 (GRCh38)
11:124628416 (GRCh37)
Canonical SPDI:: NC_000011.10:124758519:GGGGGG:GGGGG,NC_000011.10:124758519:GGGGGG:GGGGGGG
Gene:: ESAM (Varview), ESAM-AS1 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124758525del, NC_000011.10:g.124758525dup, NC_000011.9:g.124628421del, NC_000011.9:g.124628421dup, NM_138961.3:c.78del, NM_138961.3:c.78dup, NM_138961.2:c.78del, NM_138961.2:c.78dup, NP_620411.2:p.Ser27fs, NP_620411.2:p.Ser27fs

Select item 14635802289.

rs1463580228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124754702 (GRCh38)
11:124624598 (GRCh37)
Canonical SPDI:: NC_000011.10:124754701:G:A
Gene:: ESAM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124754702G>A, NC_000011.9:g.124624598G>A, NG_056436.1:g.430G>A, NM_138961.3:c.669C>T, NM_138961.2:c.669C>T

Select item 146262531510.

rs1462625315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:124762125 (GRCh38)
11:124632021 (GRCh37)
Canonical SPDI:: NC_000011.10:124762124:G:A,NC_000011.10:124762124:G:C
Gene:: ESAM (Varview), ESAM-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124762125G>A, NC_000011.10:g.124762125G>C, NC_000011.9:g.124632021G>A, NC_000011.9:g.124632021G>C, NM_138961.3:c.30C>T, NM_138961.3:c.30C>G, NM_138961.2:c.30C>T, NM_138961.2:c.30C>G

Select item 146136314511.

rs1461363145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124756347 (GRCh38)
11:124626243 (GRCh37)
Canonical SPDI:: NC_000011.10:124756346:G:A
Gene:: ESAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000042/11 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.124756347G>A, NC_000011.9:g.124626243G>A, NM_138961.3:c.467C>T, NM_138961.2:c.467C>T, NP_620411.2:p.Pro156Leu

Select item 146091598012.

rs1460915980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124756674 (GRCh38)
11:124626570 (GRCh37)
Canonical SPDI:: NC_000011.10:124756673:G:A
Gene:: ESAM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124756674G>A, NC_000011.9:g.124626570G>A, NM_138961.3:c.318C>T, NM_138961.2:c.318C>T

Select item 146091209213.

rs1460912092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:124756742 (GRCh38)
11:124626638 (GRCh37)
Canonical SPDI:: NC_000011.10:124756741:C:A,NC_000011.10:124756741:C:G
Gene:: ESAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.124756742C>A, NC_000011.10:g.124756742C>G, NC_000011.9:g.124626638C>A, NC_000011.9:g.124626638C>G, NM_138961.3:c.250G>T, NM_138961.3:c.250G>C, NM_138961.2:c.250G>T, NM_138961.2:c.250G>C, NP_620411.2:p.Val84Leu, NP_620411.2:p.Val84Leu

Select item 145679416114.

rs1456794161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124753649 (GRCh38)
11:124623545 (GRCh37)
Canonical SPDI:: NC_000011.10:124753648:T:C
Gene:: VSIG2 (Varview), ESAM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124753649T>C, NC_000011.9:g.124623545T>C, NM_138961.3:c.1170A>G, NM_138961.2:c.1170A>G

Select item 145165596815.

rs1451655968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:124758417 (GRCh38)
11:124628313 (GRCh37)
Canonical SPDI:: NC_000011.10:124758416:A:G
Gene:: ESAM (Varview), ESAM-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124758417A>G, NC_000011.9:g.124628313A>G, NM_138961.3:c.181T>C, NM_138961.2:c.181T>C, NP_620411.2:p.Ser61Pro

Select item 145060895316.

rs1450608953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:124758489 (GRCh38)
11:124628385 (GRCh37)
Canonical SPDI:: NC_000011.10:124758488:C:A
Gene:: ESAM (Varview), ESAM-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124758489C>A, NC_000011.9:g.124628385C>A, NM_138961.3:c.109G>T, NM_138961.2:c.109G>T, NP_620411.2:p.Ala37Ser

Select item 144441626017.

rs1444416260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:124753670 (GRCh38)
11:124623566 (GRCh37)
Canonical SPDI:: NC_000011.10:124753669:C:A,NC_000011.10:124753669:C:G
Gene:: VSIG2 (Varview), ESAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124753670C>A, NC_000011.10:g.124753670C>G, NC_000011.9:g.124623566C>A, NC_000011.9:g.124623566C>G, NM_138961.3:c.1149G>T, NM_138961.3:c.1149G>C, NM_138961.2:c.1149G>T, NM_138961.2:c.1149G>C, NP_620411.2:p.Gln383His, NP_620411.2:p.Gln383His

Select item 144227868018.

rs1442278680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:124758425 (GRCh38)
11:124628321 (GRCh37)
Canonical SPDI:: NC_000011.10:124758424:C:G
Gene:: ESAM (Varview), ESAM-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.124758425C>G, NC_000011.9:g.124628321C>G, NM_138961.3:c.173G>C, NM_138961.2:c.173G>C, NP_620411.2:p.Gly58Ala

Select item 143963243819.

rs1439632438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:124754762 (GRCh38)
11:124624658 (GRCh37)
Canonical SPDI:: NC_000011.10:124754761:A:T
Gene:: ESAM (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=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000684/2 (KOREAN)
T=0.001092/2 (Korea1K)
T=0.002017/34 (TOMMO)
HGVS:: NC_000011.10:g.124754762A>T, NC_000011.9:g.124624658A>T, NG_056436.1:g.490A>T, NM_138961.3:c.609T>A, NM_138961.2:c.609T>A, NP_620411.2:p.Asp203Glu

Select item 143854442720.

rs1438544427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124753947 (GRCh38)
11:124623843 (GRCh37)
Canonical SPDI:: NC_000011.10:124753946:G:A
Gene:: VSIG2 (Varview), ESAM (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124753947G>A, NC_000011.9:g.124623843G>A, NM_138961.3:c.872C>T, NM_138961.2:c.872C>T, NP_620411.2:p.Ala291Val