SNP Links for Protein (Select 23110997) - SNP

Links from Protein

Items: 1 to 20 of 203

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Select item 14877168211.

rs1487716821 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:60429793 (GRCh38)
11:60197266 (GRCh37)
Canonical SPDI:: NC_000011.10:60429792:AAAAA:AAAA
Gene:: MS4A5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60429797del, NC_000011.9:g.60197270del, NM_023945.3:c.123del, NM_023945.2:c.123del, NP_076434.2:p.Lys41fs

Select item 14807475112.

rs1480747511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:60447680 (GRCh38)
11:60215153 (GRCh37)
Canonical SPDI:: NC_000011.10:60447679:T:A,NC_000011.10:60447679:T:C
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.60447680T>A, NC_000011.10:g.60447680T>C, NC_000011.9:g.60215153T>A, NC_000011.9:g.60215153T>C, NM_023945.3:c.524T>A, NM_023945.3:c.524T>C, NM_023945.2:c.524T>A, NM_023945.2:c.524T>C, NP_076434.2:p.Ile175Asn, NP_076434.2:p.Ile175Thr

Select item 14797202133.

rs1479720213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:60429723 (GRCh38)
11:60197196 (GRCh37)
Canonical SPDI:: NC_000011.10:60429722:G:C
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60429723G>C, NC_000011.9:g.60197196G>C, NM_023945.3:c.49G>C, NM_023945.2:c.49G>C, NP_076434.2:p.Glu17Gln

Select item 14751297364.

rs1475129736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60429730 (GRCh38)
11:60197203 (GRCh37)
Canonical SPDI:: NC_000011.10:60429729:C:T
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60429730C>T, NC_000011.9:g.60197203C>T, NM_023945.3:c.56C>T, NM_023945.2:c.56C>T, NP_076434.2:p.Thr19Ile

Select item 14707178205.

rs1470717820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60433765 (GRCh38)
11:60201238 (GRCh37)
Canonical SPDI:: NC_000011.10:60433764:A:G
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60433765A>G, NC_000011.9:g.60201238A>G, NM_023945.3:c.340A>G, NM_023945.2:c.340A>G, NP_076434.2:p.Ile114Val

Select item 14695249926.

rs1469524992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:60429756 (GRCh38)
11:60197229 (GRCh37)
Canonical SPDI:: NC_000011.10:60429755:C:A,NC_000011.10:60429755:C:T
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000011.10:g.60429756C>A, NC_000011.10:g.60429756C>T, NC_000011.9:g.60197229C>A, NC_000011.9:g.60197229C>T, NM_023945.3:c.82C>A, NM_023945.3:c.82C>T, NM_023945.2:c.82C>A, NM_023945.2:c.82C>T, NP_076434.2:p.Leu28Ile, NP_076434.2:p.Leu28Phe

Select item 14688277967.

rs1468827796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60430810 (GRCh38)
11:60198283 (GRCh37)
Canonical SPDI:: NC_000011.10:60430809:G:A
Gene:: MS4A5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60430810G>A, NC_000011.9:g.60198283G>A, NM_023945.3:c.168G>A, NM_023945.2:c.168G>A

Select item 14675188048.

rs1467518804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:60433823 (GRCh38)
11:60201296 (GRCh37)
Canonical SPDI:: NC_000011.10:60433822:T:C,NC_000011.10:60433822:T:G
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.60433823T>C, NC_000011.10:g.60433823T>G, NC_000011.9:g.60201296T>C, NC_000011.9:g.60201296T>G, NM_023945.3:c.398T>C, NM_023945.3:c.398T>G, NM_023945.2:c.398T>C, NM_023945.2:c.398T>G, NP_076434.2:p.Ile133Thr, NP_076434.2:p.Ile133Ser

Select item 14626855299.

rs1462685529 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:60429789 (GRCh38)
11:60197262 (GRCh37)
Canonical SPDI:: NC_000011.10:60429788:TT:T
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60429790del, NC_000011.9:g.60197263del, NM_023945.3:c.116del, NM_023945.2:c.116del, NP_076434.2:p.Leu39fs

Select item 144884481610.

rs1448844816 [Homo sapiens]

Variant type:: DEL
Alleles:: AATTA>- [Show Flanks]
Chromosome:: 11:60447686 (GRCh38)
11:60215159 (GRCh37)
Canonical SPDI:: NC_000011.10:60447685:AATTA:
Gene:: MS4A5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60447686_60447690del, NC_000011.9:g.60215159_60215163del, NM_023945.3:c.530_534del, NM_023945.2:c.530_534del, NP_076434.2:p.Glu177fs

Select item 144016344211.

rs1440163442 [Homo sapiens]

Variant type:: DEL
Alleles:: CAA>- [Show Flanks]
Chromosome:: 11:60433879 (GRCh38)
11:60201352 (GRCh37)
Canonical SPDI:: NC_000011.10:60433878:CAA:
Gene:: MS4A5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.60433879_60433881del, NC_000011.9:g.60201352_60201354del, NM_023945.3:c.454_456del, NM_023945.2:c.454_456del, NP_076434.2:p.Gln152del

Select item 143692771812.

rs1436927718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60433832 (GRCh38)
11:60201305 (GRCh37)
Canonical SPDI:: NC_000011.10:60433831:C:T
Gene:: MS4A5 (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)
HGVS:: NC_000011.10:g.60433832C>T, NC_000011.9:g.60201305C>T, NM_023945.3:c.407C>T, NM_023945.2:c.407C>T, NP_076434.2:p.Thr136Ile

Select item 143208463213.

rs1432084632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60447699 (GRCh38)
11:60215172 (GRCh37)
Canonical SPDI:: NC_000011.10:60447698:T:C
Gene:: MS4A5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60447699T>C, NC_000011.9:g.60215172T>C, NM_023945.3:c.543T>C, NM_023945.2:c.543T>C

Select item 140848174914.

rs1408481749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60447722 (GRCh38)
11:60215195 (GRCh37)
Canonical SPDI:: NC_000011.10:60447721:G:A
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.60447722G>A, NC_000011.9:g.60215195G>A, NM_023945.3:c.566G>A, NM_023945.2:c.566G>A, NP_076434.2:p.Cys189Tyr

Select item 140609234815.

rs1406092348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60430805 (GRCh38)
11:60198278 (GRCh37)
Canonical SPDI:: NC_000011.10:60430804:A:G
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60430805A>G, NC_000011.9:g.60198278A>G, NM_023945.3:c.163A>G, NM_023945.2:c.163A>G, NP_076434.2:p.Ile55Val

Select item 140513610316.

rs1405136103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:60432432 (GRCh38)
11:60199905 (GRCh37)
Canonical SPDI:: NC_000011.10:60432431:C:A
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.60432432C>A, NC_000011.9:g.60199905C>A, NM_023945.3:c.304C>A, NM_023945.2:c.304C>A, NP_076434.2:p.Leu102Ile

Select item 140095224717.

rs1400952247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60430833 (GRCh38)
11:60198306 (GRCh37)
Canonical SPDI:: NC_000011.10:60430832:T:C
Gene:: MS4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60430833T>C, NC_000011.9:g.60198306T>C, NM_023945.3:c.191T>C, NM_023945.2:c.191T>C, NP_076434.2:p.Phe64Ser

Select item 139216077118.

rs1392160771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60433886 (GRCh38)
11:60201359 (GRCh37)
Canonical SPDI:: NC_000011.10:60433885:G:A
Gene:: MS4A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.60433886G>A, NC_000011.9:g.60201359G>A, NM_023945.3:c.461G>A, NM_023945.2:c.461G>A, NP_076434.2:p.Ser154Asn

Select item 139093215419.

rs1390932154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60433911 (GRCh38)
11:60201384 (GRCh37)
Canonical SPDI:: NC_000011.10:60433910:G:A
Gene:: MS4A5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00004/1 (ALFA)
HGVS:: NC_000011.10:g.60433911G>A, NC_000011.9:g.60201384G>A, NM_023945.3:c.486G>A, NM_023945.2:c.486G>A

Select item 138424397020.

rs1384243970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60447741 (GRCh38)
11:60215214 (GRCh37)
Canonical SPDI:: NC_000011.10:60447740:T:C
Gene:: MS4A5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.60447741T>C, NC_000011.9:g.60215214T>C, NM_023945.3:c.585T>C, NM_023945.2:c.585T>C

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