SNP Links for Protein (Select 1034639144) - SNP

Links from Protein

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Select item 14904544651.

rs1490454465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:189960754 (GRCh38)
4:190881909 (GRCh37)
Canonical SPDI:: NC_000004.12:189960753:T:C
Gene:: FRG1 (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_000004.12:g.189960754T>C, NC_000004.11:g.190881909T>C, NG_008142.1:g.24936T>C, NM_004477.3:c.544T>C, NM_004477.2:c.544T>C, NW_015495301.1:g.53684T>C, NW_003571034.1:g.53684T>C, NW_015495300.1:g.53684T>C, NT_187650.1:g.298285T>C, XM_017007958.2:c.160T>C, XM_017007958.1:c.160T>C, NP_004468.1:p.Ser182Pro, XP_016863447.1:p.Ser54Pro

Select item 14860604312.

rs1486060431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:189960782 (GRCh38)
4:190881937 (GRCh37)
Canonical SPDI:: NC_000004.12:189960781:A:C
Gene:: FRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.189960782A>C, NC_000004.11:g.190881937A>C, NG_008142.1:g.24964A>C, NM_004477.3:c.572A>C, NM_004477.2:c.572A>C, NW_015495301.1:g.53712A>C, NW_003571034.1:g.53712A>C, NW_015495300.1:g.53712A>C, NT_187650.1:g.298313A>C, XM_017007958.2:c.188A>C, XM_017007958.1:c.188A>C, NP_004468.1:p.Lys191Thr, XP_016863447.1:p.Lys63Thr

Select item 14831867543.

rs1483186754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:189952282 (GRCh38)
4:190873437 (GRCh37)
Canonical SPDI:: NC_000004.12:189952281:A:G
Gene:: FRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.1092/319 (KOREAN)
HGVS:: NC_000004.12:g.189952282A>G, NC_000004.11:g.190873437A>G, NG_008142.1:g.16464A>G, NM_004477.3:c.254A>G, NM_004477.2:c.254A>G, NW_015495301.1:g.45212A>G, NW_003571034.1:g.45212A>G, NW_015495300.1:g.45212A>G, NT_187650.1:g.289812A>G, XM_017007958.2:c.43A>G, XM_017007958.1:c.43A>G, NP_004468.1:p.Lys85Arg, XP_016863447.1:p.Lys15Glu

Select item 14820031824.

rs1482003182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:189961851 (GRCh38)
4:190883006 (GRCh37)
Canonical SPDI:: NC_000004.12:189961850:A:G
Gene:: FRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.189961851A>G, NC_000004.11:g.190883006A>G, NG_008142.1:g.26033A>G, NM_004477.3:c.659A>G, NM_004477.2:c.659A>G, NW_015495301.1:g.54781A>G, NW_003571034.1:g.54781A>G, NW_015495300.1:g.54781A>G, NT_187650.1:g.299382A>G, XM_017007958.2:c.275A>G, XM_017007958.1:c.275A>G, NP_004468.1:p.Lys220Arg, XP_016863447.1:p.Lys92Arg

Select item 14701868105.

rs1470186810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:189961887 (GRCh38)
4:190883042 (GRCh37)
Canonical SPDI:: NC_000004.12:189961886:A:T
Gene:: FRG1 (Varview)
Functional Consequence:: missense_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 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.189961887A>T, NC_000004.11:g.190883042A>T, NG_008142.1:g.26069A>T, NM_004477.3:c.695A>T, NM_004477.2:c.695A>T, NW_015495301.1:g.54817A>T, NW_003571034.1:g.54817A>T, NW_015495300.1:g.54817A>T, NT_187650.1:g.299418A>T, XM_017007958.2:c.311A>T, XM_017007958.1:c.311A>T, NP_004468.1:p.Lys232Ile, XP_016863447.1:p.Lys104Ile

Select item 14701424636.

rs1470142463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:189952284 (GRCh38)
4:190873440 (GRCh37)
Canonical SPDI:: NC_000004.12:189952284:AA:AAA
Gene:: FRG1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.189952286dup, NC_000004.11:g.190873441dup, NG_008142.1:g.16468dup, NM_004477.3:c.258dup, NM_004477.2:c.258dup, NW_015495301.1:g.45216dup, NW_003571034.1:g.45216dup, NW_015495300.1:g.45216dup, NT_187650.1:g.289816dup, XM_017007958.2:c.47dup, XM_017007958.1:c.47dup, NP_004468.1:p.Val87fs, XP_016863447.1:p.Lys18fs

Select item 14645082267.

rs1464508226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:189957458 (GRCh38)
4:190878613 (GRCh37)
Canonical SPDI:: NC_000004.12:189957457:A:G,NC_000004.12:189957457:A:T
Gene:: FRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.189957458A>G, NC_000004.12:g.189957458A>T, NC_000004.11:g.190878613A>G, NC_000004.11:g.190878613A>T, NG_008142.1:g.21640A>G, NG_008142.1:g.21640A>T, NM_004477.3:c.493A>G, NM_004477.3:c.493A>T, NM_004477.2:c.493A>G, NM_004477.2:c.493A>T, NW_015495301.1:g.50388A>G, NW_015495301.1:g.50388A>T, NW_003571034.1:g.50388A>G, NW_003571034.1:g.50388A>T, NW_015495300.1:g.50388A>G, NW_015495300.1:g.50388A>T, NT_187650.1:g.294989A>G, NT_187650.1:g.294989A>T, XM_017007958.2:c.109A>G, XM_017007958.2:c.109A>T, XM_017007958.1:c.109A>G, XM_017007958.1:c.109A>T, NP_004468.1:p.Ile165Val, NP_004468.1:p.Ile165Leu, XP_016863447.1:p.Ile37Val, XP_016863447.1:p.Ile37Leu

Select item 14635749688.

rs1463574968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:189952278 (GRCh38)
4:190873433 (GRCh37)
Canonical SPDI:: NC_000004.12:189952277:C:T
Gene:: FRG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.189952278C>T, NC_000004.11:g.190873433C>T, NG_008142.1:g.16460C>T, NM_004477.3:c.250C>T, NM_004477.2:c.250C>T, NW_015495301.1:g.45208C>T, NW_003571034.1:g.45208C>T, NW_015495300.1:g.45208C>T, NT_187650.1:g.289808C>T, XM_017007958.2:c.39C>T, XM_017007958.1:c.39C>T, NP_004468.1:p.His84Tyr

Select item 14580396139.

rs1458039613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:189952247 (GRCh38)
4:190873402 (GRCh37)
Canonical SPDI:: NC_000004.12:189952246:C:A,NC_000004.12:189952246:C:G,NC_000004.12:189952246:C:T
Gene:: FRG1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000872/24 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000036/5 (GnomAD)
T=0.010609/31 (KOREAN)
HGVS:: NC_000004.12:g.189952247C>A, NC_000004.12:g.189952247C>G, NC_000004.12:g.189952247C>T, NC_000004.11:g.190873402C>A, NC_000004.11:g.190873402C>G, NC_000004.11:g.190873402C>T, NG_008142.1:g.16429C>A, NG_008142.1:g.16429C>G, NG_008142.1:g.16429C>T, NM_004477.3:c.219C>A, NM_004477.3:c.219C>G, NM_004477.3:c.219C>T, NM_004477.2:c.219C>A, NM_004477.2:c.219C>G, NM_004477.2:c.219C>T, NW_015495301.1:g.45177C>A, NW_015495301.1:g.45177C>G, NW_015495301.1:g.45177C>T, NW_003571034.1:g.45177C>A, NW_003571034.1:g.45177C>G, NW_003571034.1:g.45177C>T, NW_015495300.1:g.45177C>A, NW_015495300.1:g.45177C>G, NW_015495300.1:g.45177C>T, NT_187650.1:g.289777C>A, NT_187650.1:g.289777C>G, NT_187650.1:g.289777C>T, XM_017007958.2:c.8C>A, XM_017007958.2:c.8C>G, XM_017007958.2:c.8C>T, XM_017007958.1:c.8C>A, XM_017007958.1:c.8C>G, XM_017007958.1:c.8C>T, XP_016863447.1:p.Ser3Ter, XP_016863447.1:p.Ser3Trp, XP_016863447.1:p.Ser3Leu

Select item 145710114710.

rs1457101147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:189961913 (GRCh38)
4:190883068 (GRCh37)
Canonical SPDI:: NC_000004.12:189961912:C:T
Gene:: FRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.189961913C>T, NC_000004.11:g.190883068C>T, NG_008142.1:g.26095C>T, NM_004477.3:c.721C>T, NM_004477.2:c.721C>T, NW_015495301.1:g.54843C>T, NW_003571034.1:g.54843C>T, NW_015495300.1:g.54843C>T, NT_187650.1:g.299444C>T, XM_017007958.2:c.337C>T, XM_017007958.1:c.337C>T, NP_004468.1:p.His241Tyr, XP_016863447.1:p.His113Tyr

Select item 143888019611.

rs1438880196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:189960769 (GRCh38)
4:190881924 (GRCh37)
Canonical SPDI:: NC_000004.12:189960768:G:A
Gene:: FRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.189960769G>A, NC_000004.11:g.190881924G>A, NG_008142.1:g.24951G>A, NM_004477.3:c.559G>A, NM_004477.2:c.559G>A, NW_015495301.1:g.53699G>A, NW_003571034.1:g.53699G>A, NW_015495300.1:g.53699G>A, NT_187650.1:g.298300G>A, XM_017007958.2:c.175G>A, XM_017007958.1:c.175G>A, NP_004468.1:p.Glu187Lys, XP_016863447.1:p.Glu59Lys

Select item 143673508912.

rs1436735089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:189952257 (GRCh38)
4:190873412 (GRCh37)
Canonical SPDI:: NC_000004.12:189952256:C:A
Gene:: FRG1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.189952257C>A, NC_000004.11:g.190873412C>A, NG_008142.1:g.16439C>A, NM_004477.3:c.229C>A, NM_004477.2:c.229C>A, NW_015495301.1:g.45187C>A, NW_003571034.1:g.45187C>A, NW_015495300.1:g.45187C>A, NT_187650.1:g.289787C>A, XM_017007958.2:c.18C>A, XM_017007958.1:c.18C>A, NP_004468.1:p.Leu77Ile

Select item 143568684413.

rs1435686844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:189963123 (GRCh38)
4:190884278 (GRCh37)
Canonical SPDI:: NC_000004.12:189963122:C:A
Gene:: FRG1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.189963123C>A, NC_000004.11:g.190884278C>A, NG_008142.1:g.27305C>A, NM_004477.3:c.771C>A, NM_004477.2:c.771C>A, NW_015495301.1:g.56053C>A, NW_003571034.1:g.56053C>A, NW_015495300.1:g.56053C>A, NT_187650.1:g.300654C>A, XM_017007958.2:c.387C>A, XM_017007958.1:c.387C>A, NP_004468.1:p.Cys257Ter, XP_016863447.1:p.Cys129Ter

Select item 140971649114.

rs1409716491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:189961902 (GRCh38)
4:190883057 (GRCh37)
Canonical SPDI:: NC_000004.12:189961901:A:G
Gene:: FRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.189961902A>G, NC_000004.11:g.190883057A>G, NG_008142.1:g.26084A>G, NM_004477.3:c.710A>G, NM_004477.2:c.710A>G, NW_015495301.1:g.54832A>G, NW_003571034.1:g.54832A>G, NW_015495300.1:g.54832A>G, NT_187650.1:g.299433A>G, XM_017007958.2:c.326A>G, XM_017007958.1:c.326A>G, NP_004468.1:p.Asp237Gly, XP_016863447.1:p.Asp109Gly

Select item 140608974615.

rs1406089746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:189957474 (GRCh38)
4:190878629 (GRCh37)
Canonical SPDI:: NC_000004.12:189957473:A:C
Gene:: FRG1 (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_000004.12:g.189957474A>C, NC_000004.11:g.190878629A>C, NG_008142.1:g.21656A>C, NM_004477.3:c.509A>C, NM_004477.2:c.509A>C, NW_015495301.1:g.50404A>C, NW_003571034.1:g.50404A>C, NW_015495300.1:g.50404A>C, NT_187650.1:g.295005A>C, XM_017007958.2:c.125A>C, XM_017007958.1:c.125A>C, NP_004468.1:p.Lys170Thr, XP_016863447.1:p.Lys42Thr

Select item 140197576816.

rs1401975768 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 4:189957451 (GRCh38)
4:190878606 (GRCh37)
Canonical SPDI:: NC_000004.12:189957450:A:
Gene:: FRG1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.189957451del, NC_000004.11:g.190878606del, NG_008142.1:g.21633del, NM_004477.3:c.486del, NM_004477.2:c.486del, NW_015495301.1:g.50381del, NW_003571034.1:g.50381del, NW_015495300.1:g.50381del, NT_187650.1:g.294982del, XM_017007958.2:c.102del, XM_017007958.1:c.102del, NP_004468.1:p.Asp164fs, XP_016863447.1:p.Asp36fs

Select item 139658841417.

rs1396588414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:189961849 (GRCh38)
4:190883004 (GRCh37)
Canonical SPDI:: NC_000004.12:189961848:C:T
Gene:: FRG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.189961849C>T, NC_000004.11:g.190883004C>T, NG_008142.1:g.26031C>T, NM_004477.3:c.657C>T, NM_004477.2:c.657C>T, NW_015495301.1:g.54779C>T, NW_003571034.1:g.54779C>T, NW_015495300.1:g.54779C>T, NT_187650.1:g.299380C>T, XM_017007958.2:c.273C>T, XM_017007958.1:c.273C>T

Select item 138177439918.

rs1381774399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:189961916 (GRCh38)
4:190883071 (GRCh37)
Canonical SPDI:: NC_000004.12:189961915:G:C
Gene:: FRG1 (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_000004.12:g.189961916G>C, NC_000004.11:g.190883071G>C, NG_008142.1:g.26098G>C, NM_004477.3:c.724G>C, NM_004477.2:c.724G>C, NW_015495301.1:g.54846G>C, NW_003571034.1:g.54846G>C, NW_015495300.1:g.54846G>C, NT_187650.1:g.299447G>C, XM_017007958.2:c.340G>C, XM_017007958.1:c.340G>C, NP_004468.1:p.Glu242Gln, XP_016863447.1:p.Glu114Gln

Select item 137300971519.

rs1373009715 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:189961856 (GRCh38)
4:190883011 (GRCh37)
Canonical SPDI:: NC_000004.12:189961855:AAAA:AAA
Gene:: FRG1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.189961859del, NC_000004.11:g.190883014del, NG_008142.1:g.26041del, NM_004477.3:c.667del, NM_004477.2:c.667del, NW_015495301.1:g.54789del, NW_003571034.1:g.54789del, NW_015495300.1:g.54789del, NT_187650.1:g.299390del, XM_017007958.2:c.283del, XM_017007958.1:c.283del, NP_004468.1:p.Lys222_Ile223insTer, XP_016863447.1:p.Lys94_Ile95insTer

Select item 136743424920.

rs1367434249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:189952283 (GRCh38)
4:190873438 (GRCh37)
Canonical SPDI:: NC_000004.12:189952282:A:G,NC_000004.12:189952282:A:T
Gene:: FRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.10712/313 (KOREAN)
HGVS:: NC_000004.12:g.189952283A>G, NC_000004.12:g.189952283A>T, NC_000004.11:g.190873438A>G, NC_000004.11:g.190873438A>T, NG_008142.1:g.16465A>G, NG_008142.1:g.16465A>T, NM_004477.3:c.255A>G, NM_004477.3:c.255A>T, NM_004477.2:c.255A>G, NM_004477.2:c.255A>T, NW_015495301.1:g.45213A>G, NW_015495301.1:g.45213A>T, NW_003571034.1:g.45213A>G, NW_003571034.1:g.45213A>T, NW_015495300.1:g.45213A>G, NW_015495300.1:g.45213A>T, NT_187650.1:g.289813A>G, NT_187650.1:g.289813A>T, XM_017007958.2:c.44A>G, XM_017007958.2:c.44A>T, XM_017007958.1:c.44A>G, XM_017007958.1:c.44A>T, NP_004468.1:p.Lys85Asn, XP_016863447.1:p.Lys15Arg, XP_016863447.1:p.Lys15Met

dbSNP

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