SNP Links for Protein (Select 767922210) - SNP

Select item 14689856771.

rs1468985677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50331342 (GRCh38)
3:50368773 (GRCh37)
Canonical SPDI:: NC_000003.12:50331341:C:T
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.50331342C>T, NC_000003.11:g.50368773C>T, NG_023270.1:g.14595G>A, NM_007182.5:c.868G>A, NM_007182.4:c.868G>A, NM_170713.3:c.658G>A, NM_170713.2:c.658G>A, NM_170712.3:c.415G>A, NM_170712.2:c.415G>A, NM_170714.2:c.880G>A, NM_170714.1:c.880G>A, NM_001206957.2:c.415G>A, NM_001206957.1:c.415G>A, XM_011533316.3:c.415G>A, XM_011533316.2:c.415G>A, XM_011533316.1:c.415G>A, NM_170715.1:c.880G>A, NM_170716.1:c.*482G>A, NM_170717.1:c.*197G>A, XM_047447372.1:c.415G>A, NP_009113.3:p.Glu290Lys, NP_733831.1:p.Glu220Lys, NP_733830.1:p.Glu139Lys, NP_733832.1:p.Glu294Lys, NP_001193886.1:p.Glu139Lys, XP_011531618.1:p.Glu139Lys, XP_047303328.1:p.Glu139Lys

Select item 14643765062.

rs1464376506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:50331623 (GRCh38)
3:50369054 (GRCh37)
Canonical SPDI:: NC_000003.12:50331622:C:G,NC_000003.12:50331622:C:T
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.50331623C>G, NC_000003.12:g.50331623C>T, NC_000003.11:g.50369054C>G, NC_000003.11:g.50369054C>T, NG_023270.1:g.14314G>C, NG_023270.1:g.14314G>A, NM_007182.5:c.696G>C, NM_007182.5:c.696G>A, NM_007182.4:c.696G>C, NM_007182.4:c.696G>A, NM_170713.3:c.486G>C, NM_170713.3:c.486G>A, NM_170713.2:c.486G>C, NM_170713.2:c.486G>A, NM_170712.3:c.243G>C, NM_170712.3:c.243G>A, NM_170712.2:c.243G>C, NM_170712.2:c.243G>A, NM_170714.2:c.708G>C, NM_170714.2:c.708G>A, NM_170714.1:c.708G>C, NM_170714.1:c.708G>A, NM_001206957.2:c.243G>C, NM_001206957.2:c.243G>A, NM_001206957.1:c.243G>C, NM_001206957.1:c.243G>A, XM_011533316.3:c.243G>C, XM_011533316.3:c.243G>A, XM_011533316.2:c.243G>C, XM_011533316.2:c.243G>A, XM_011533316.1:c.243G>C, XM_011533316.1:c.243G>A, NM_170715.1:c.708G>C, NM_170715.1:c.708G>A, NM_170716.1:c.*310G>C, NM_170716.1:c.*310G>A, NM_170717.1:c.*25G>C, NM_170717.1:c.*25G>A, XM_047447372.1:c.243G>C, XM_047447372.1:c.243G>A, NP_009113.3:p.Lys232Asn, NP_733831.1:p.Lys162Asn, NP_733830.1:p.Lys81Asn, NP_733832.1:p.Lys236Asn, NP_001193886.1:p.Lys81Asn, XP_011531618.1:p.Lys81Asn, XP_047303328.1:p.Lys81Asn

Select item 14558392243.

rs1455839224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50331395 (GRCh38)
3:50368826 (GRCh37)
Canonical SPDI:: NC_000003.12:50331394:G:A
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.50331395G>A, NC_000003.11:g.50368826G>A, NG_023270.1:g.14542C>T, NM_007182.5:c.815C>T, NM_007182.4:c.815C>T, NM_170713.3:c.605C>T, NM_170713.2:c.605C>T, NM_170712.3:c.362C>T, NM_170712.2:c.362C>T, NM_170714.2:c.827C>T, NM_170714.1:c.827C>T, NM_001206957.2:c.362C>T, NM_001206957.1:c.362C>T, XM_011533316.3:c.362C>T, XM_011533316.2:c.362C>T, XM_011533316.1:c.362C>T, NM_170715.1:c.827C>T, NM_170716.1:c.*429C>T, NM_170717.1:c.*144C>T, XM_047447372.1:c.362C>T, NP_009113.3:p.Ala272Val, NP_733831.1:p.Ala202Val, NP_733830.1:p.Ala121Val, NP_733832.1:p.Ala276Val, NP_001193886.1:p.Ala121Val, XP_011531618.1:p.Ala121Val, XP_047303328.1:p.Ala121Val

Select item 14546898034.

rs1454689803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50331442 (GRCh38)
3:50368873 (GRCh37)
Canonical SPDI:: NC_000003.12:50331441:C:T
Gene:: RASSF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50331442C>T, NC_000003.11:g.50368873C>T, NG_023270.1:g.14495G>A, NM_007182.5:c.768G>A, NM_007182.4:c.768G>A, NM_170713.3:c.558G>A, NM_170713.2:c.558G>A, NM_170712.3:c.315G>A, NM_170712.2:c.315G>A, NM_170714.2:c.780G>A, NM_170714.1:c.780G>A, NM_001206957.2:c.315G>A, NM_001206957.1:c.315G>A, XM_011533316.3:c.315G>A, XM_011533316.2:c.315G>A, XM_011533316.1:c.315G>A, NM_170715.1:c.780G>A, NM_170716.1:c.*382G>A, NM_170717.1:c.*97G>A, XM_047447372.1:c.315G>A

Select item 14331105615.

rs1433110561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:50330704 (GRCh38)
3:50368135 (GRCh37)
Canonical SPDI:: NC_000003.12:50330703:T:C
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.50330704T>C, NW_003871059.1:g.100552T>C, NG_023270.1:g.15233A>G, NM_007182.5:c.900A>G, NM_007182.4:c.900A>G, NM_170713.3:c.690A>G, NM_170713.2:c.690A>G, NM_170712.3:c.447A>G, NM_170712.2:c.447A>G, NM_170714.2:c.912A>G, NM_170714.1:c.912A>G, NM_001206957.2:c.447A>G, NM_001206957.1:c.447A>G, NC_000003.11:g.50368135T>C, XM_011533316.3:c.447A>G, XM_011533316.2:c.447A>G, XM_011533316.1:c.447A>G, NM_170715.1:c.912A>G, NM_170716.1:c.*514A>G, NM_170717.1:c.*229A>G, XM_047447372.1:c.447A>G

Select item 14283044816.

rs1428304481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50331389 (GRCh38)
3:50368820 (GRCh37)
Canonical SPDI:: NC_000003.12:50331388:G:A
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50331389G>A, NC_000003.11:g.50368820G>A, NG_023270.1:g.14548C>T, NM_007182.5:c.821C>T, NM_007182.4:c.821C>T, NM_170713.3:c.611C>T, NM_170713.2:c.611C>T, NM_170712.3:c.368C>T, NM_170712.2:c.368C>T, NM_170714.2:c.833C>T, NM_170714.1:c.833C>T, NM_001206957.2:c.368C>T, NM_001206957.1:c.368C>T, XM_011533316.3:c.368C>T, XM_011533316.2:c.368C>T, XM_011533316.1:c.368C>T, NM_170715.1:c.833C>T, NM_170716.1:c.*435C>T, NM_170717.1:c.*150C>T, XM_047447372.1:c.368C>T, NP_009113.3:p.Pro274Leu, NP_733831.1:p.Pro204Leu, NP_733830.1:p.Pro123Leu, NP_733832.1:p.Pro278Leu, NP_001193886.1:p.Pro123Leu, XP_011531618.1:p.Pro123Leu, XP_047303328.1:p.Pro123Leu

Select item 14238250487.

rs1423825048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:50331756 (GRCh38)
3:50369187 (GRCh37)
Canonical SPDI:: NC_000003.12:50331755:G:C
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50331756G>C, NC_000003.11:g.50369187G>C, NG_023270.1:g.14181C>G, NM_007182.5:c.563C>G, NM_007182.4:c.563C>G, NM_170713.3:c.353C>G, NM_170713.2:c.353C>G, NM_170712.3:c.110C>G, NM_170712.2:c.110C>G, NM_170714.2:c.575C>G, NM_170714.1:c.575C>G, NM_001206957.2:c.110C>G, NM_001206957.1:c.110C>G, XM_011533316.3:c.110C>G, XM_011533316.2:c.110C>G, XM_011533316.1:c.110C>G, NM_170715.1:c.575C>G, NM_170716.1:c.*177C>G, NM_170717.1:c.351C>G, XM_047447372.1:c.110C>G, NP_009113.3:p.Ala188Gly, NP_733831.1:p.Ala118Gly, NP_733830.1:p.Ala37Gly, NP_733832.1:p.Ala192Gly, NP_001193886.1:p.Ala37Gly, XP_011531618.1:p.Ala37Gly, XP_047303328.1:p.Ala37Gly

Select item 14218383248.

rs1421838324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50330587 (GRCh38)
3:50368018 (GRCh37)
Canonical SPDI:: NC_000003.12:50330586:A:G
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50330587A>G, NW_003871059.1:g.100435A>G, NG_023270.1:g.15350T>C, NM_007182.5:c.1017T>C, NM_007182.4:c.1017T>C, NM_170713.3:c.807T>C, NM_170713.2:c.807T>C, NM_170712.3:c.564T>C, NM_170712.2:c.564T>C, NM_170714.2:c.1029T>C, NM_170714.1:c.1029T>C, NM_001206957.2:c.564T>C, NM_001206957.1:c.564T>C, NC_000003.11:g.50368018A>G, XM_011533316.3:c.564T>C, XM_011533316.2:c.564T>C, XM_011533316.1:c.564T>C, NM_170715.1:c.1029T>C, NM_170716.1:c.*631T>C, NM_170717.1:c.*346T>C, XM_047447372.1:c.564T>C

Select item 14174182229.

rs1417418222 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:50331673 (GRCh38)
3:50369104 (GRCh37)
Canonical SPDI:: NC_000003.12:50331672:C:
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50331673del, NC_000003.11:g.50369104del, NG_023270.1:g.14264del, NM_007182.5:c.646del, NM_007182.4:c.646del, NM_170713.3:c.436del, NM_170713.2:c.436del, NM_170712.3:c.193del, NM_170712.2:c.193del, NM_170714.2:c.658del, NM_170714.1:c.658del, NM_001206957.2:c.193del, NM_001206957.1:c.193del, XM_011533316.3:c.193del, XM_011533316.2:c.193del, XM_011533316.1:c.193del, NM_170715.1:c.658del, NM_170716.1:c.*260del, NM_170717.1:c.434del, XM_047447372.1:c.193del, NP_009113.3:p.Val216fs, NP_733831.1:p.Val146fs, NP_733830.1:p.Val65fs, NP_733832.1:p.Val220fs, NP_001193886.1:p.Val65fs, XP_011531618.1:p.Val65fs, XP_047303328.1:p.Val65fs

Select item 141014466510.

rs1410144665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50331414 (GRCh38)
3:50368845 (GRCh37)
Canonical SPDI:: NC_000003.12:50331413:G:A
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50331414G>A, NC_000003.11:g.50368845G>A, NG_023270.1:g.14523C>T, NM_007182.5:c.796C>T, NM_007182.4:c.796C>T, NM_170713.3:c.586C>T, NM_170713.2:c.586C>T, NM_170712.3:c.343C>T, NM_170712.2:c.343C>T, NM_170714.2:c.808C>T, NM_170714.1:c.808C>T, NM_001206957.2:c.343C>T, NM_001206957.1:c.343C>T, XM_011533316.3:c.343C>T, XM_011533316.2:c.343C>T, XM_011533316.1:c.343C>T, NM_170715.1:c.808C>T, NM_170716.1:c.*410C>T, NM_170717.1:c.*125C>T, XM_047447372.1:c.343C>T

Select item 140963053111.

rs1409630531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50331800 (GRCh38)
3:50369231 (GRCh37)
Canonical SPDI:: NC_000003.12:50331799:A:G
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50331800A>G, NC_000003.11:g.50369231A>G, NG_023270.1:g.14137T>C, NM_007182.5:c.519T>C, NM_007182.4:c.519T>C, NM_170713.3:c.309T>C, NM_170713.2:c.309T>C, NM_170712.3:c.66T>C, NM_170712.2:c.66T>C, NM_170714.2:c.531T>C, NM_170714.1:c.531T>C, NM_001206957.2:c.66T>C, NM_001206957.1:c.66T>C, XM_011533316.3:c.66T>C, XM_011533316.2:c.66T>C, XM_011533316.1:c.66T>C, NM_170715.1:c.531T>C, NM_170716.1:c.*133T>C, NM_170717.1:c.307T>C, XM_047447372.1:c.66T>C

Select item 138900129412.

rs1389001294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50331640 (GRCh38)
3:50369071 (GRCh37)
Canonical SPDI:: NC_000003.12:50331639:C:T
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.50331640C>T, NC_000003.11:g.50369071C>T, NG_023270.1:g.14297G>A, NM_007182.5:c.679G>A, NM_007182.4:c.679G>A, NM_170713.3:c.469G>A, NM_170713.2:c.469G>A, NM_170712.3:c.226G>A, NM_170712.2:c.226G>A, NM_170714.2:c.691G>A, NM_170714.1:c.691G>A, NM_001206957.2:c.226G>A, NM_001206957.1:c.226G>A, XM_011533316.3:c.226G>A, XM_011533316.2:c.226G>A, XM_011533316.1:c.226G>A, NM_170715.1:c.691G>A, NM_170716.1:c.*293G>A, NM_170717.1:c.*8G>A, XM_047447372.1:c.226G>A, NP_009113.3:p.Glu227Lys, NP_733831.1:p.Glu157Lys, NP_733830.1:p.Glu76Lys, NP_733832.1:p.Glu231Lys, NP_001193886.1:p.Glu76Lys, XP_011531618.1:p.Glu76Lys, XP_047303328.1:p.Glu76Lys

Select item 138498813913.

rs1384988139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:50330655 (GRCh38)
3:50368086 (GRCh37)
Canonical SPDI:: NC_000003.12:50330654:G:A,NC_000003.12:50330654:G:C
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.50330655G>A, NC_000003.12:g.50330655G>C, NW_003871059.1:g.100503G>A, NW_003871059.1:g.100503G>C, NG_023270.1:g.15282C>T, NG_023270.1:g.15282C>G, NM_007182.5:c.949C>T, NM_007182.5:c.949C>G, NM_007182.4:c.949C>T, NM_007182.4:c.949C>G, NM_170713.3:c.739C>T, NM_170713.3:c.739C>G, NM_170713.2:c.739C>T, NM_170713.2:c.739C>G, NM_170712.3:c.496C>T, NM_170712.3:c.496C>G, NM_170712.2:c.496C>T, NM_170712.2:c.496C>G, NM_170714.2:c.961C>T, NM_170714.2:c.961C>G, NM_170714.1:c.961C>T, NM_170714.1:c.961C>G, NM_001206957.2:c.496C>T, NM_001206957.2:c.496C>G, NM_001206957.1:c.496C>T, NM_001206957.1:c.496C>G, NC_000003.11:g.50368086G>A, NC_000003.11:g.50368086G>C, XM_011533316.3:c.496C>T, XM_011533316.3:c.496C>G, XM_011533316.2:c.496C>T, XM_011533316.2:c.496C>G, XM_011533316.1:c.496C>T, XM_011533316.1:c.496C>G, NM_170715.1:c.961C>T, NM_170715.1:c.961C>G, NM_170716.1:c.*563C>T, NM_170716.1:c.*563C>G, NM_170717.1:c.*278C>T, NM_170717.1:c.*278C>G, XM_047447372.1:c.496C>T, XM_047447372.1:c.496C>G, NP_009113.3:p.Arg317Cys, NP_009113.3:p.Arg317Gly, NP_733831.1:p.Arg247Cys, NP_733831.1:p.Arg247Gly, NP_733830.1:p.Arg166Cys, NP_733830.1:p.Arg166Gly, NP_733832.1:p.Arg321Cys, NP_733832.1:p.Arg321Gly, NP_001193886.1:p.Arg166Cys, NP_001193886.1:p.Arg166Gly, XP_011531618.1:p.Arg166Cys, XP_011531618.1:p.Arg166Gly, XP_047303328.1:p.Arg166Cys, XP_047303328.1:p.Arg166Gly

Select item 137682885414.

rs1376828854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:50331620 (GRCh38)
3:50369051 (GRCh37)
Canonical SPDI:: NC_000003.12:50331619:G:C
Gene:: RASSF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50331620G>C, NC_000003.11:g.50369051G>C, NG_023270.1:g.14317C>G, NM_007182.5:c.699C>G, NM_007182.4:c.699C>G, NM_170713.3:c.489C>G, NM_170713.2:c.489C>G, NM_170712.3:c.246C>G, NM_170712.2:c.246C>G, NM_170714.2:c.711C>G, NM_170714.1:c.711C>G, NM_001206957.2:c.246C>G, NM_001206957.1:c.246C>G, XM_011533316.3:c.246C>G, XM_011533316.2:c.246C>G, XM_011533316.1:c.246C>G, NM_170715.1:c.711C>G, NM_170716.1:c.*313C>G, NM_170717.1:c.*28C>G, XM_047447372.1:c.246C>G, NP_009113.3:p.Phe233Leu, NP_733831.1:p.Phe163Leu, NP_733830.1:p.Phe82Leu, NP_733832.1:p.Phe237Leu, NP_001193886.1:p.Phe82Leu, XP_011531618.1:p.Phe82Leu, XP_047303328.1:p.Phe82Leu

Select item 137150177015.

rs1371501770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50331794 (GRCh38)
3:50369225 (GRCh37)
Canonical SPDI:: NC_000003.12:50331793:A:G
Gene:: RASSF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50331794A>G, NC_000003.11:g.50369225A>G, NG_023270.1:g.14143T>C, NM_007182.5:c.525T>C, NM_007182.4:c.525T>C, NM_170713.3:c.315T>C, NM_170713.2:c.315T>C, NM_170712.3:c.72T>C, NM_170712.2:c.72T>C, NM_170714.2:c.537T>C, NM_170714.1:c.537T>C, NM_001206957.2:c.72T>C, NM_001206957.1:c.72T>C, XM_011533316.3:c.72T>C, XM_011533316.2:c.72T>C, XM_011533316.1:c.72T>C, NM_170715.1:c.537T>C, NM_170716.1:c.*139T>C, NM_170717.1:c.313T>C, XM_047447372.1:c.72T>C

Select item 136919127216.

rs1369191272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50331636 (GRCh38)
3:50369067 (GRCh37)
Canonical SPDI:: NC_000003.12:50331635:G:A
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.50331636G>A, NC_000003.11:g.50369067G>A, NG_023270.1:g.14301C>T, NM_007182.5:c.683C>T, NM_007182.4:c.683C>T, NM_170713.3:c.473C>T, NM_170713.2:c.473C>T, NM_170712.3:c.230C>T, NM_170712.2:c.230C>T, NM_170714.2:c.695C>T, NM_170714.1:c.695C>T, NM_001206957.2:c.230C>T, NM_001206957.1:c.230C>T, XM_011533316.3:c.230C>T, XM_011533316.2:c.230C>T, XM_011533316.1:c.230C>T, NM_170715.1:c.695C>T, NM_170716.1:c.*297C>T, NM_170717.1:c.*12C>T, XM_047447372.1:c.230C>T, NP_009113.3:p.Ala228Val, NP_733831.1:p.Ala158Val, NP_733830.1:p.Ala77Val, NP_733832.1:p.Ala232Val, NP_001193886.1:p.Ala77Val, XP_011531618.1:p.Ala77Val, XP_047303328.1:p.Ala77Val

Select item 136602515617.

rs1366025156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50331377 (GRCh38)
3:50368808 (GRCh37)
Canonical SPDI:: NC_000003.12:50331376:G:A
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000003.12:g.50331377G>A, NC_000003.11:g.50368808G>A, NG_023270.1:g.14560C>T, NM_007182.5:c.833C>T, NM_007182.4:c.833C>T, NM_170713.3:c.623C>T, NM_170713.2:c.623C>T, NM_170712.3:c.380C>T, NM_170712.2:c.380C>T, NM_170714.2:c.845C>T, NM_170714.1:c.845C>T, NM_001206957.2:c.380C>T, NM_001206957.1:c.380C>T, XM_011533316.3:c.380C>T, XM_011533316.2:c.380C>T, XM_011533316.1:c.380C>T, NM_170715.1:c.845C>T, NM_170716.1:c.*447C>T, NM_170717.1:c.*162C>T, XM_047447372.1:c.380C>T, NP_009113.3:p.Ala278Val, NP_733831.1:p.Ala208Val, NP_733830.1:p.Ala127Val, NP_733832.1:p.Ala282Val, NP_001193886.1:p.Ala127Val, XP_011531618.1:p.Ala127Val, XP_047303328.1:p.Ala127Val

Select item 136508053418.

rs1365080534 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:50331348 (GRCh38)
3:50368779 (GRCh37)
Canonical SPDI:: NC_000003.12:50331345:AGAG:AG
Gene:: RASSF1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50331346AG[1], NC_000003.11:g.50368777AG[1], NG_023270.1:g.14588CT[1], NM_007182.5:c.863_864del, NM_007182.4:c.863_864del, NM_170713.3:c.653_654del, NM_170713.2:c.653_654del, NM_170712.3:c.410_411del, NM_170712.2:c.410_411del, NM_170714.2:c.875_876del, NM_170714.1:c.875_876del, NM_001206957.2:c.410_411del, NM_001206957.1:c.410_411del, XM_011533316.3:c.410_411del, XM_011533316.2:c.410_411del, XM_011533316.1:c.410_411del, NM_170715.1:c.875_876del, NM_170716.1:c.*475CT[1], NM_170717.1:c.*190CT[1], XM_047447372.1:c.410_411del, NP_009113.3:p.Ser288fs, NP_733831.1:p.Ser218fs, NP_733830.1:p.Ser137fs, NP_733832.1:p.Ser292fs, NP_001193886.1:p.Ser137fs, XP_011531618.1:p.Ser137fs, XP_047303328.1:p.Ser137fs

Select item 135498084819.

rs1354980848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50331429 (GRCh38)
3:50368860 (GRCh37)
Canonical SPDI:: NC_000003.12:50331428:C:T
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50331429C>T, NC_000003.11:g.50368860C>T, NG_023270.1:g.14508G>A, NM_007182.5:c.781G>A, NM_007182.4:c.781G>A, NM_170713.3:c.571G>A, NM_170713.2:c.571G>A, NM_170712.3:c.328G>A, NM_170712.2:c.328G>A, NM_170714.2:c.793G>A, NM_170714.1:c.793G>A, NM_001206957.2:c.328G>A, NM_001206957.1:c.328G>A, XM_011533316.3:c.328G>A, XM_011533316.2:c.328G>A, XM_011533316.1:c.328G>A, NM_170715.1:c.793G>A, NM_170716.1:c.*395G>A, NM_170717.1:c.*110G>A, XM_047447372.1:c.328G>A, NP_009113.3:p.Asp261Asn, NP_733831.1:p.Asp191Asn, NP_733830.1:p.Asp110Asn, NP_733832.1:p.Asp265Asn, NP_001193886.1:p.Asp110Asn, XP_011531618.1:p.Asp110Asn, XP_047303328.1:p.Asp110Asn

Select item 134911026120.

rs1349110261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:50331684 (GRCh38)
3:50369115 (GRCh37)
Canonical SPDI:: NC_000003.12:50331683:T:C
Gene:: RASSF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50331684T>C, NC_000003.11:g.50369115T>C, NG_023270.1:g.14253A>G, NM_007182.5:c.635A>G, NM_007182.4:c.635A>G, NM_170713.3:c.425A>G, NM_170713.2:c.425A>G, NM_170712.3:c.182A>G, NM_170712.2:c.182A>G, NM_170714.2:c.647A>G, NM_170714.1:c.647A>G, NM_001206957.2:c.182A>G, NM_001206957.1:c.182A>G, XM_011533316.3:c.182A>G, XM_011533316.2:c.182A>G, XM_011533316.1:c.182A>G, NM_170715.1:c.647A>G, NM_170716.1:c.*249A>G, NM_170717.1:c.423A>G, XM_047447372.1:c.182A>G, NP_009113.3:p.Lys212Arg, NP_733831.1:p.Lys142Arg, NP_733830.1:p.Lys61Arg, NP_733832.1:p.Lys216Arg, NP_001193886.1:p.Lys61Arg, XP_011531618.1:p.Lys61Arg, XP_047303328.1:p.Lys61Arg

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Result Filters

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