SNP Links for Protein (Select 992319649) - SNP

Links from Protein

Items: 1 to 20 of 77

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Select item 14838603301.

rs1483860330 has merged into rs530681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:121183484 (GRCh38)
1:120839839 (GRCh37)
Canonical SPDI:: NC_000001.11:121183483:A:C,NC_000001.11:121183483:A:G
Gene:: SRGAP2C (Varview), FAM72B (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0003/4 (ALFA)
C=0.00149/25 (TOMMO)
C=0.01772/495 (ExAC)
HGVS:: NC_000001.11:g.121183484A>C, NC_000001.11:g.121183484A>G, NW_003871056.3:g.1255058A>C, NW_003871056.3:g.1255058A>G, NC_000001.10:g.120839839T>G, NC_000001.10:g.120839839T>C, NM_001100910.2:c.6T>G, NM_001100910.2:c.6T>C, NM_001100910.1:c.6T>G, NM_001100910.1:c.6T>C, NM_001320149.2:c.6T>G, NM_001320149.2:c.6T>C, NM_001320149.1:c.6T>G, NM_001320149.1:c.6T>C

Select item 14814253672.

rs1481425367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:121168761 (GRCh38)
1:120854566 (GRCh37)
Canonical SPDI:: NC_000001.11:121168760:C:T
Gene:: FAM72B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.121168761C>T, NW_003871056.3:g.1240335C>T, NC_000001.10:g.120854566G>A, NM_001100910.2:c.430G>A, NM_001100910.1:c.430G>A, NM_001320149.2:c.310G>A, NM_001320149.1:c.310G>A, NP_001094380.1:p.Ala144Thr, NP_001307078.1:p.Ala104Thr

Select item 14679800053.

rs1467980005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:121177232 (GRCh38)
1:120846095 (GRCh37)
Canonical SPDI:: NC_000001.11:121177231:C:A
Gene:: FAM72B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.121177232C>A, NW_003871056.3:g.1248806C>A, NC_000001.10:g.120846095G>T, NM_001100910.2:c.331G>T, NM_001100910.1:c.331G>T, NM_001320149.2:c.211G>T, NM_001320149.1:c.211G>T, NP_001094380.1:p.Asp111Tyr, NP_001307078.1:p.Asp71Tyr

Select item 14471357544.

rs1447135754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:121177326 (GRCh38)
1:120846001 (GRCh37)
Canonical SPDI:: NC_000001.11:121177325:G:A
Gene:: FAM72B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.121177326G>A, NW_003871056.3:g.1248900G>A, NC_000001.10:g.120846001C>T, NM_001100910.2:c.237C>T, NM_001100910.1:c.237C>T, NM_001320149.2:c.117C>T, NM_001320149.1:c.117C>T

Select item 14405590045.

rs1440559004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:121177266 (GRCh38)
1:120846061 (GRCh37)
Canonical SPDI:: NC_000001.11:121177265:T:G
Gene:: FAM72B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.121177266T>G, NW_003871056.3:g.1248840T>G, NC_000001.10:g.120846061A>C, NM_001100910.2:c.297A>C, NM_001100910.1:c.297A>C, NM_001320149.2:c.177A>C, NM_001320149.1:c.177A>C

Select item 14359116746.

rs1435911674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:121177219 (GRCh38)
1:120846108 (GRCh37)
Canonical SPDI:: NC_000001.11:121177218:A:C
Gene:: FAM72B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.121177219A>C, NW_003871056.3:g.1248793A>C, NC_000001.10:g.120846108T>G, NM_001100910.2:c.344T>G, NM_001100910.1:c.344T>G, NM_001320149.2:c.224T>G, NM_001320149.1:c.224T>G, NP_001094380.1:p.Leu115Arg, NP_001307078.1:p.Leu75Arg

Select item 14273556627.

rs1427355662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:121183467 (GRCh38)
1:120839856 (GRCh37)
Canonical SPDI:: NC_000001.11:121183466:A:G
Gene:: SRGAP2C (Varview), FAM72B (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.121183467A>G, NW_003871056.3:g.1255041A>G, NC_000001.10:g.120839856T>C, NM_001100910.2:c.23T>C, NM_001100910.1:c.23T>C, NM_001320149.2:c.23T>C, NM_001320149.1:c.23T>C, NP_001094380.1:p.Phe8Ser, NP_001307078.1:p.Phe8Ser

Select item 13722165238.

rs1372216523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:121181343 (GRCh38)
1:120841980 (GRCh37)
Canonical SPDI:: NC_000001.11:121181342:A:G
Gene:: FAM72B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.121181343A>G, NW_003871056.3:g.1252917A>G, NC_000001.10:g.120841980T>C, NM_001100910.2:c.158T>C, NM_001100910.1:c.158T>C, NM_001320149.2:c.38T>C, NM_001320149.1:c.38T>C, NP_001094380.1:p.Val53Ala, NP_001307078.1:p.Val13Ala

Select item 13714541739.

rs1371454173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:121168809 (GRCh38)
1:120854518 (GRCh37)
Canonical SPDI:: NC_000001.11:121168808:A:T
Gene:: FAM72B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.121168809A>T, NW_003871056.3:g.1240383A>T, NC_000001.10:g.120854518T>A, NM_001100910.2:c.382T>A, NM_001100910.1:c.382T>A, NM_001320149.2:c.262T>A, NM_001320149.1:c.262T>A, NP_001094380.1:p.Leu128Met, NP_001307078.1:p.Leu88Met

Select item 135072980510.

rs1350729805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:121177240 (GRCh38)
1:120846087 (GRCh37)
Canonical SPDI:: NC_000001.11:121177239:G:A,NC_000001.11:121177239:G:T
Gene:: FAM72B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.121177240G>A, NC_000001.11:g.121177240G>T, NW_003871056.3:g.1248814G>A, NW_003871056.3:g.1248814G>T, NC_000001.10:g.120846087C>T, NC_000001.10:g.120846087C>A, NM_001100910.2:c.323C>T, NM_001100910.2:c.323C>A, NM_001100910.1:c.323C>T, NM_001100910.1:c.323C>A, NM_001320149.2:c.203C>T, NM_001320149.2:c.203C>A, NM_001320149.1:c.203C>T, NM_001320149.1:c.203C>A, NP_001094380.1:p.Ala108Val, NP_001094380.1:p.Ala108Glu, NP_001307078.1:p.Ala68Val, NP_001307078.1:p.Ala68Glu

Select item 134047834511.

rs1340478345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:121168783 (GRCh38)
1:120854544 (GRCh37)
Canonical SPDI:: NC_000001.11:121168782:A:G
Gene:: FAM72B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.121168783A>G, NW_003871056.3:g.1240357A>G, NC_000001.10:g.120854544T>C, NM_001100910.2:c.408T>C, NM_001100910.1:c.408T>C, NM_001320149.2:c.288T>C, NM_001320149.1:c.288T>C

Select item 132308899012.

rs1323088990 has merged into rs1055682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:121177268 (GRCh38)
1:120846059 (GRCh37)
Canonical SPDI:: NC_000001.11:121177267:C:T
Gene:: FAM72B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00012/2 (TOMMO)
HGVS:: NC_000001.11:g.121177268C>T, NW_003871056.3:g.1248842C>T, NC_000001.10:g.120846059G>A, NM_001100910.2:c.295G>A, NM_001100910.1:c.295G>A, NM_001320149.2:c.175G>A, NM_001320149.1:c.175G>A, NP_001094380.1:p.Gly99Arg, NP_001307078.1:p.Gly59Arg

Select item 131980352013.

rs1319803520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:121181325 (GRCh38)
1:120841998 (GRCh37)
Canonical SPDI:: NC_000001.11:121181324:C:T
Gene:: FAM72B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
A=0.000019/1 (GnomAD_exomes)
T=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.121181325C>T, NW_003871056.3:g.1252899C>T, NC_000001.10:g.120841998G>A, NM_001100910.2:c.176G>A, NM_001100910.1:c.176G>A, NM_001320149.2:c.56G>A, NM_001320149.1:c.56G>A, NP_001094380.1:p.Cys59Tyr, NP_001307078.1:p.Cys19Tyr

Select item 131784934514.

rs1317849345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:121168787 (GRCh38)
1:120854540 (GRCh37)
Canonical SPDI:: NC_000001.11:121168786:G:A
Gene:: FAM72B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.121168787G>A, NW_003871056.3:g.1240361G>A, NC_000001.10:g.120854540C>T, NM_001100910.2:c.404C>T, NM_001100910.1:c.404C>T, NM_001320149.2:c.284C>T, NM_001320149.1:c.284C>T, NP_001094380.1:p.Thr135Ile, NP_001307078.1:p.Thr95Ile

Select item 131070486415.

rs1310704864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:121168800 (GRCh38)
1:120854527 (GRCh37)
Canonical SPDI:: NC_000001.11:121168799:T:C
Gene:: FAM72B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.121168800T>C, NW_003871056.3:g.1240374T>C, NC_000001.10:g.120854527A>G, NM_001100910.2:c.391A>G, NM_001100910.1:c.391A>G, NM_001320149.2:c.271A>G, NM_001320149.1:c.271A>G, NP_001094380.1:p.Ile131Val, NP_001307078.1:p.Ile91Val

Select item 129214248216.

rs1292142482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:121181307 (GRCh38)
1:120842016 (GRCh37)
Canonical SPDI:: NC_000001.11:121181306:C:T
Gene:: FAM72B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.121181307C>T, NW_003871056.3:g.1252881C>T, NC_000001.10:g.120842016G>A, NM_001100910.2:c.194G>A, NM_001100910.1:c.194G>A, NM_001320149.2:c.74G>A, NM_001320149.1:c.74G>A, NP_001094380.1:p.Cys65Tyr, NP_001307078.1:p.Cys25Tyr

Select item 128605812317.

rs1286058123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:121181345 (GRCh38)
1:120841978 (GRCh37)
Canonical SPDI:: NC_000001.11:121181344:T:C
Gene:: FAM72B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000337/4 (ALFA)
G=0.000153/8 (GnomAD_exomes)
C=0.000192/21 (GnomAD)
C=0.000238/63 (TOPMED)
HGVS:: NC_000001.11:g.121181345T>C, NW_003871056.3:g.1252919T>C, NC_000001.10:g.120841978A>G, NM_001100910.2:c.156A>G, NM_001100910.1:c.156A>G, NM_001320149.2:c.36A>G, NM_001320149.1:c.36A>G

Select item 127488689618.

rs1274886896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:121168777 (GRCh38)
1:120854550 (GRCh37)
Canonical SPDI:: NC_000001.11:121168776:A:G
Gene:: FAM72B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.121168777A>G, NW_003871056.3:g.1240351A>G, NC_000001.10:g.120854550T>C, NM_001100910.2:c.414T>C, NM_001100910.1:c.414T>C, NM_001320149.2:c.294T>C, NM_001320149.1:c.294T>C

Select item 125907166519.

rs1259071665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:121183473 (GRCh38)
1:120839850 (GRCh37)
Canonical SPDI:: NC_000001.11:121183472:C:T
Gene:: SRGAP2C (Varview), FAM72B (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.121183473C>T, NW_003871056.3:g.1255047C>T, NC_000001.10:g.120839850G>A, NM_001100910.2:c.17G>A, NM_001100910.1:c.17G>A, NM_001320149.2:c.17G>A, NM_001320149.1:c.17G>A, NP_001094380.1:p.Cys6Tyr, NP_001307078.1:p.Cys6Tyr

Select item 125488448120.

rs1254884481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:121168752 (GRCh38)
1:120854575 (GRCh37)
Canonical SPDI:: NC_000001.11:121168751:A:C
Gene:: FAM72B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.121168752A>C, NW_003871056.3:g.1240326A>C, NC_000001.10:g.120854575T>G, NM_001100910.2:c.439T>G, NM_001100910.1:c.439T>G, NM_001320149.2:c.319T>G, NM_001320149.1:c.319T>G, NP_001094380.1:p.Cys147Gly, NP_001307078.1:p.Cys107Gly

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