SNP Links for Protein (Select 767916638) - SNP

Select item 14904744021.

rs1490474402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACGAGGTTGTG>- [Show Flanks]
Chromosome:: 2:197572202 (GRCh38)
2:198436926 (GRCh37)
Canonical SPDI:: NC_000002.12:197572193:AGGTTGTGACGAGGTTGTG:AGGTTGTG
Gene:: RFTN2 (Varview), LOC124907952 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGTTGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.197572202_197572212del, NC_000002.11:g.198436926_198436936del, XM_011510595.4:c.1340_1350del, XM_011510595.3:c.1340_1350del, XM_011510595.2:c.1340_1350del, XM_011510595.1:c.1340_1350del, XM_011510596.4:c.1337_1347del, XM_011510596.3:c.1337_1347del, XM_011510596.2:c.1337_1347del, XM_011510596.1:c.1337_1347del, XM_011510597.4:c.1307_1317del, XM_011510597.3:c.1307_1317del, XM_011510597.2:c.1307_1317del, XM_011510597.1:c.1307_1317del, XM_011510598.4:c.1289_1299del, XM_011510598.3:c.1289_1299del, XM_011510598.2:c.1289_1299del, XM_011510598.1:c.1289_1299del, NM_144629.3:c.1310_1320del, NM_144629.2:c.1310_1320del, XM_017003332.3:c.1259_1269del, XM_017003332.2:c.1259_1269del, XM_017003332.1:c.1259_1269del, XR_007087918.1:n.1327_1337del, XP_011508897.1:p.Ser447fs, XP_011508898.1:p.Ser446fs, XP_011508899.1:p.Ser436fs, XP_011508900.1:p.Ser430fs, NP_653230.2:p.Ser437fs, XP_016858821.1:p.Ser420fs

Select item 14841632482.

rs1484163248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:197633817 (GRCh38)
2:198498541 (GRCh37)
Canonical SPDI:: NC_000002.12:197633816:A:G,NC_000002.12:197633816:A:T
Gene:: RFTN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.197633817A>G, NC_000002.12:g.197633817A>T, NC_000002.11:g.198498541A>G, NC_000002.11:g.198498541A>T, XM_011510595.4:c.619T>C, XM_011510595.4:c.619T>A, XM_011510595.3:c.619T>C, XM_011510595.3:c.619T>A, XM_011510595.2:c.619T>C, XM_011510595.2:c.619T>A, XM_011510595.1:c.619T>C, XM_011510595.1:c.619T>A, XM_011510596.4:c.619T>C, XM_011510596.4:c.619T>A, XM_011510596.3:c.619T>C, XM_011510596.3:c.619T>A, XM_011510596.2:c.619T>C, XM_011510596.2:c.619T>A, XM_011510596.1:c.619T>C, XM_011510596.1:c.619T>A, XM_011510597.4:c.619T>C, XM_011510597.4:c.619T>A, XM_011510597.3:c.619T>C, XM_011510597.3:c.619T>A, XM_011510597.2:c.619T>C, XM_011510597.2:c.619T>A, XM_011510597.1:c.619T>C, XM_011510597.1:c.619T>A, XM_011510598.4:c.568T>C, XM_011510598.4:c.568T>A, XM_011510598.3:c.568T>C, XM_011510598.3:c.568T>A, XM_011510598.2:c.568T>C, XM_011510598.2:c.568T>A, XM_011510598.1:c.568T>C, XM_011510598.1:c.568T>A, NM_144629.3:c.619T>C, NM_144629.3:c.619T>A, NM_144629.2:c.619T>C, NM_144629.2:c.619T>A, XM_017003332.3:c.568T>C, XM_017003332.3:c.568T>A, XM_017003332.2:c.568T>C, XM_017003332.2:c.568T>A, XM_017003332.1:c.568T>C, XM_017003332.1:c.568T>A, XP_011508897.1:p.Ser207Pro, XP_011508897.1:p.Ser207Thr, XP_011508898.1:p.Ser207Pro, XP_011508898.1:p.Ser207Thr, XP_011508899.1:p.Ser207Pro, XP_011508899.1:p.Ser207Thr, XP_011508900.1:p.Ser190Pro, XP_011508900.1:p.Ser190Thr, NP_653230.2:p.Ser207Pro, NP_653230.2:p.Ser207Thr, XP_016858821.1:p.Ser190Pro, XP_016858821.1:p.Ser190Thr

Select item 14826023813.

rs1482602381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:197572226 (GRCh38)
2:198436950 (GRCh37)
Canonical SPDI:: NC_000002.12:197572225:T:A
Gene:: RFTN2 (Varview), LOC124907952 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197572226T>A, NC_000002.11:g.198436950T>A, XM_011510595.4:c.1318A>T, XM_011510595.3:c.1318A>T, XM_011510595.2:c.1318A>T, XM_011510595.1:c.1318A>T, XM_011510596.4:c.1315A>T, XM_011510596.3:c.1315A>T, XM_011510596.2:c.1315A>T, XM_011510596.1:c.1315A>T, XM_011510597.4:c.1285A>T, XM_011510597.3:c.1285A>T, XM_011510597.2:c.1285A>T, XM_011510597.1:c.1285A>T, XM_011510598.4:c.1267A>T, XM_011510598.3:c.1267A>T, XM_011510598.2:c.1267A>T, XM_011510598.1:c.1267A>T, NM_144629.3:c.1288A>T, NM_144629.2:c.1288A>T, XM_017003332.3:c.1237A>T, XM_017003332.2:c.1237A>T, XM_017003332.1:c.1237A>T, XR_007087918.1:n.1351T>A, XP_011508897.1:p.Ser440Cys, XP_011508898.1:p.Ser439Cys, XP_011508899.1:p.Ser429Cys, XP_011508900.1:p.Ser423Cys, NP_653230.2:p.Ser430Cys, XP_016858821.1:p.Ser413Cys

Select item 14796358724.

rs1479635872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:197631156 (GRCh38)
2:198495880 (GRCh37)
Canonical SPDI:: NC_000002.12:197631155:A:G
Gene:: RFTN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.197631156A>G, NC_000002.11:g.198495880A>G, XM_011510595.4:c.783T>C, XM_011510595.3:c.783T>C, XM_011510595.2:c.783T>C, XM_011510595.1:c.783T>C, XM_011510596.4:c.783T>C, XM_011510596.3:c.783T>C, XM_011510596.2:c.783T>C, XM_011510596.1:c.783T>C, XM_011510597.4:c.783T>C, XM_011510597.3:c.783T>C, XM_011510597.2:c.783T>C, XM_011510597.1:c.783T>C, XM_011510598.4:c.732T>C, XM_011510598.3:c.732T>C, XM_011510598.2:c.732T>C, XM_011510598.1:c.732T>C, NM_144629.3:c.783T>C, NM_144629.2:c.783T>C, XM_017003332.3:c.732T>C, XM_017003332.2:c.732T>C, XM_017003332.1:c.732T>C

Select item 14752497915.

rs1475249791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:197646512 (GRCh38)
2:198511236 (GRCh37)
Canonical SPDI:: NC_000002.12:197646511:G:C
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000002.12:g.197646512G>C, NC_000002.11:g.198511236G>C, XM_011510595.4:c.294C>G, XM_011510595.3:c.294C>G, XM_011510595.2:c.294C>G, XM_011510595.1:c.294C>G, XM_011510596.4:c.294C>G, XM_011510596.3:c.294C>G, XM_011510596.2:c.294C>G, XM_011510596.1:c.294C>G, XM_011510597.4:c.294C>G, XM_011510597.3:c.294C>G, XM_011510597.2:c.294C>G, XM_011510597.1:c.294C>G, XM_011510598.4:c.294C>G, XM_011510598.3:c.294C>G, XM_011510598.2:c.294C>G, XM_011510598.1:c.294C>G, NM_144629.3:c.294C>G, NM_144629.2:c.294C>G, XM_017003332.3:c.294C>G, XM_017003332.2:c.294C>G, XM_017003332.1:c.294C>G, XP_011508897.1:p.Tyr98Ter, XP_011508898.1:p.Tyr98Ter, XP_011508899.1:p.Tyr98Ter, XP_011508900.1:p.Tyr98Ter, NP_653230.2:p.Tyr98Ter, XP_016858821.1:p.Tyr98Ter

Select item 14736714526.

rs1473671452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:197633755 (GRCh38)
2:198498479 (GRCh37)
Canonical SPDI:: NC_000002.12:197633754:A:G
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.197633755A>G, NC_000002.11:g.198498479A>G, XM_011510595.4:c.681T>C, XM_011510595.3:c.681T>C, XM_011510595.2:c.681T>C, XM_011510595.1:c.681T>C, XM_011510596.4:c.681T>C, XM_011510596.3:c.681T>C, XM_011510596.2:c.681T>C, XM_011510596.1:c.681T>C, XM_011510597.4:c.681T>C, XM_011510597.3:c.681T>C, XM_011510597.2:c.681T>C, XM_011510597.1:c.681T>C, XM_011510598.4:c.630T>C, XM_011510598.3:c.630T>C, XM_011510598.2:c.630T>C, XM_011510598.1:c.630T>C, NM_144629.3:c.681T>C, NM_144629.2:c.681T>C, XM_017003332.3:c.630T>C, XM_017003332.2:c.630T>C, XM_017003332.1:c.630T>C

Select item 14712864007.

rs1471286400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:197596027 (GRCh38)
2:198460751 (GRCh37)
Canonical SPDI:: NC_000002.12:197596026:C:T
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197596027C>T, NC_000002.11:g.198460751C>T, XM_011510595.4:c.1197G>A, XM_011510595.3:c.1197G>A, XM_011510595.2:c.1197G>A, XM_011510595.1:c.1197G>A, XM_011510596.4:c.1197G>A, XM_011510596.3:c.1197G>A, XM_011510596.2:c.1197G>A, XM_011510596.1:c.1197G>A, XM_011510597.4:c.1197G>A, XM_011510597.3:c.1197G>A, XM_011510597.2:c.1197G>A, XM_011510597.1:c.1197G>A, XM_011510598.4:c.1146G>A, XM_011510598.3:c.1146G>A, XM_011510598.2:c.1146G>A, XM_011510598.1:c.1146G>A, NM_144629.3:c.1197G>A, NM_144629.2:c.1197G>A, XM_017003332.3:c.1146G>A, XM_017003332.2:c.1146G>A, XM_017003332.1:c.1146G>A

Select item 14665500318.

rs1466550031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:197633776 (GRCh38)
2:198498500 (GRCh37)
Canonical SPDI:: NC_000002.12:197633775:T:C
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.197633776T>C, NC_000002.11:g.198498500T>C, XM_011510595.4:c.660A>G, XM_011510595.3:c.660A>G, XM_011510595.2:c.660A>G, XM_011510595.1:c.660A>G, XM_011510596.4:c.660A>G, XM_011510596.3:c.660A>G, XM_011510596.2:c.660A>G, XM_011510596.1:c.660A>G, XM_011510597.4:c.660A>G, XM_011510597.3:c.660A>G, XM_011510597.2:c.660A>G, XM_011510597.1:c.660A>G, XM_011510598.4:c.609A>G, XM_011510598.3:c.609A>G, XM_011510598.2:c.609A>G, XM_011510598.1:c.609A>G, NM_144629.3:c.660A>G, NM_144629.2:c.660A>G, XM_017003332.3:c.609A>G, XM_017003332.2:c.609A>G, XM_017003332.1:c.609A>G

Select item 14634570439.

rs1463457043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:197633950 (GRCh38)
2:198498674 (GRCh37)
Canonical SPDI:: NC_000002.12:197633949:T:C
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197633950T>C, NC_000002.11:g.198498674T>C, XM_011510595.4:c.486A>G, XM_011510595.3:c.486A>G, XM_011510595.2:c.486A>G, XM_011510595.1:c.486A>G, XM_011510596.4:c.486A>G, XM_011510596.3:c.486A>G, XM_011510596.2:c.486A>G, XM_011510596.1:c.486A>G, XM_011510597.4:c.486A>G, XM_011510597.3:c.486A>G, XM_011510597.2:c.486A>G, XM_011510597.1:c.486A>G, NM_144629.3:c.486A>G, NM_144629.2:c.486A>G

Select item 145907601310.

rs1459076013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:197633895 (GRCh38)
2:198498619 (GRCh37)
Canonical SPDI:: NC_000002.12:197633894:C:G
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197633895C>G, NC_000002.11:g.198498619C>G, XM_011510595.4:c.541G>C, XM_011510595.3:c.541G>C, XM_011510595.2:c.541G>C, XM_011510595.1:c.541G>C, XM_011510596.4:c.541G>C, XM_011510596.3:c.541G>C, XM_011510596.2:c.541G>C, XM_011510596.1:c.541G>C, XM_011510597.4:c.541G>C, XM_011510597.3:c.541G>C, XM_011510597.2:c.541G>C, XM_011510597.1:c.541G>C, XM_011510598.4:c.490G>C, XM_011510598.3:c.490G>C, XM_011510598.2:c.490G>C, XM_011510598.1:c.490G>C, NM_144629.3:c.541G>C, NM_144629.2:c.541G>C, XM_017003332.3:c.490G>C, XM_017003332.2:c.490G>C, XM_017003332.1:c.490G>C, XP_011508897.1:p.Glu181Gln, XP_011508898.1:p.Glu181Gln, XP_011508899.1:p.Glu181Gln, XP_011508900.1:p.Glu164Gln, NP_653230.2:p.Glu181Gln, XP_016858821.1:p.Glu164Gln

Select item 145728350211.

rs1457283502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:197633976 (GRCh38)
2:198498700 (GRCh37)
Canonical SPDI:: NC_000002.12:197633975:C:T
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197633976C>T, NC_000002.11:g.198498700C>T, XM_011510595.4:c.460G>A, XM_011510595.3:c.460G>A, XM_011510595.2:c.460G>A, XM_011510595.1:c.460G>A, XM_011510596.4:c.460G>A, XM_011510596.3:c.460G>A, XM_011510596.2:c.460G>A, XM_011510596.1:c.460G>A, XM_011510597.4:c.460G>A, XM_011510597.3:c.460G>A, XM_011510597.2:c.460G>A, XM_011510597.1:c.460G>A, NM_144629.3:c.460G>A, NM_144629.2:c.460G>A, XP_011508897.1:p.Gly154Arg, XP_011508898.1:p.Gly154Arg, XP_011508899.1:p.Gly154Arg, NP_653230.2:p.Gly154Arg

Select item 145395703712.

rs1453957037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:197617838 (GRCh38)
2:198482562 (GRCh37)
Canonical SPDI:: NC_000002.12:197617837:T:C
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197617838T>C, NC_000002.11:g.198482562T>C, XM_011510595.4:c.1012A>G, XM_011510595.3:c.1012A>G, XM_011510595.2:c.1012A>G, XM_011510595.1:c.1012A>G, XM_011510596.4:c.1012A>G, XM_011510596.3:c.1012A>G, XM_011510596.2:c.1012A>G, XM_011510596.1:c.1012A>G, XM_011510597.4:c.1012A>G, XM_011510597.3:c.1012A>G, XM_011510597.2:c.1012A>G, XM_011510597.1:c.1012A>G, XM_011510598.4:c.961A>G, XM_011510598.3:c.961A>G, XM_011510598.2:c.961A>G, XM_011510598.1:c.961A>G, NM_144629.3:c.1012A>G, NM_144629.2:c.1012A>G, XM_017003332.3:c.961A>G, XM_017003332.2:c.961A>G, XM_017003332.1:c.961A>G, XP_011508897.1:p.Asn338Asp, XP_011508898.1:p.Asn338Asp, XP_011508899.1:p.Asn338Asp, XP_011508900.1:p.Asn321Asp, NP_653230.2:p.Asn338Asp, XP_016858821.1:p.Asn321Asp

Select item 144983061513.

rs1449830615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:197633989 (GRCh38)
2:198498713 (GRCh37)
Canonical SPDI:: NC_000002.12:197633988:G:A
Gene:: RFTN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.197633989G>A, NC_000002.11:g.198498713G>A, XM_011510595.4:c.447C>T, XM_011510595.3:c.447C>T, XM_011510595.2:c.447C>T, XM_011510595.1:c.447C>T, XM_011510596.4:c.447C>T, XM_011510596.3:c.447C>T, XM_011510596.2:c.447C>T, XM_011510596.1:c.447C>T, XM_011510597.4:c.447C>T, XM_011510597.3:c.447C>T, XM_011510597.2:c.447C>T, XM_011510597.1:c.447C>T, NM_144629.3:c.447C>T, NM_144629.2:c.447C>T

Select item 144837671214.

rs1448376712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:197646562 (GRCh38)
2:198511286 (GRCh37)
Canonical SPDI:: NC_000002.12:197646561:C:G,NC_000002.12:197646561:C:T
Gene:: RFTN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.197646562C>G, NC_000002.12:g.197646562C>T, NC_000002.11:g.198511286C>G, NC_000002.11:g.198511286C>T, XM_011510595.4:c.244G>C, XM_011510595.4:c.244G>A, XM_011510595.3:c.244G>C, XM_011510595.3:c.244G>A, XM_011510595.2:c.244G>C, XM_011510595.2:c.244G>A, XM_011510595.1:c.244G>C, XM_011510595.1:c.244G>A, XM_011510596.4:c.244G>C, XM_011510596.4:c.244G>A, XM_011510596.3:c.244G>C, XM_011510596.3:c.244G>A, XM_011510596.2:c.244G>C, XM_011510596.2:c.244G>A, XM_011510596.1:c.244G>C, XM_011510596.1:c.244G>A, XM_011510597.4:c.244G>C, XM_011510597.4:c.244G>A, XM_011510597.3:c.244G>C, XM_011510597.3:c.244G>A, XM_011510597.2:c.244G>C, XM_011510597.2:c.244G>A, XM_011510597.1:c.244G>C, XM_011510597.1:c.244G>A, XM_011510598.4:c.244G>C, XM_011510598.4:c.244G>A, XM_011510598.3:c.244G>C, XM_011510598.3:c.244G>A, XM_011510598.2:c.244G>C, XM_011510598.2:c.244G>A, XM_011510598.1:c.244G>C, XM_011510598.1:c.244G>A, NM_144629.3:c.244G>C, NM_144629.3:c.244G>A, NM_144629.2:c.244G>C, NM_144629.2:c.244G>A, XM_017003332.3:c.244G>C, XM_017003332.3:c.244G>A, XM_017003332.2:c.244G>C, XM_017003332.2:c.244G>A, XM_017003332.1:c.244G>C, XM_017003332.1:c.244G>A, XP_011508897.1:p.Val82Leu, XP_011508897.1:p.Val82Ile, XP_011508898.1:p.Val82Leu, XP_011508898.1:p.Val82Ile, XP_011508899.1:p.Val82Leu, XP_011508899.1:p.Val82Ile, XP_011508900.1:p.Val82Leu, XP_011508900.1:p.Val82Ile, NP_653230.2:p.Val82Leu, NP_653230.2:p.Val82Ile, XP_016858821.1:p.Val82Leu, XP_016858821.1:p.Val82Ile

Select item 144819394915.

rs1448193949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:197644204 (GRCh38)
2:198508928 (GRCh37)
Canonical SPDI:: NC_000002.12:197644203:G:T
Gene:: RFTN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.197644204G>T, NC_000002.11:g.198508928G>T, XM_011510595.4:c.392C>A, XM_011510595.3:c.392C>A, XM_011510595.2:c.392C>A, XM_011510595.1:c.392C>A, XM_011510596.4:c.392C>A, XM_011510596.3:c.392C>A, XM_011510596.2:c.392C>A, XM_011510596.1:c.392C>A, XM_011510597.4:c.392C>A, XM_011510597.3:c.392C>A, XM_011510597.2:c.392C>A, XM_011510597.1:c.392C>A, XM_011510598.4:c.392C>A, XM_011510598.3:c.392C>A, XM_011510598.2:c.392C>A, XM_011510598.1:c.392C>A, NM_144629.3:c.392C>A, NM_144629.2:c.392C>A, XM_017003332.3:c.392C>A, XM_017003332.2:c.392C>A, XM_017003332.1:c.392C>A, XP_011508897.1:p.Thr131Asn, XP_011508898.1:p.Thr131Asn, XP_011508899.1:p.Thr131Asn, XP_011508900.1:p.Thr131Asn, NP_653230.2:p.Thr131Asn, XP_016858821.1:p.Thr131Asn

Select item 144676717316.

rs1446767173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:197646584 (GRCh38)
2:198511308 (GRCh37)
Canonical SPDI:: NC_000002.12:197646583:A:C
Gene:: RFTN2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197646584A>C, NC_000002.11:g.198511308A>C, XM_011510595.4:c.222T>G, XM_011510595.3:c.222T>G, XM_011510595.2:c.222T>G, XM_011510595.1:c.222T>G, XM_011510596.4:c.222T>G, XM_011510596.3:c.222T>G, XM_011510596.2:c.222T>G, XM_011510596.1:c.222T>G, XM_011510597.4:c.222T>G, XM_011510597.3:c.222T>G, XM_011510597.2:c.222T>G, XM_011510597.1:c.222T>G, XM_011510598.4:c.222T>G, XM_011510598.3:c.222T>G, XM_011510598.2:c.222T>G, XM_011510598.1:c.222T>G, NM_144629.3:c.222T>G, NM_144629.2:c.222T>G, XM_017003332.3:c.222T>G, XM_017003332.2:c.222T>G, XM_017003332.1:c.222T>G, XP_011508897.1:p.Tyr74Ter, XP_011508898.1:p.Tyr74Ter, XP_011508899.1:p.Tyr74Ter, XP_011508900.1:p.Tyr74Ter, NP_653230.2:p.Tyr74Ter, XP_016858821.1:p.Tyr74Ter

Select item 144108466617.

rs1441084666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:197596019 (GRCh38)
2:198460743 (GRCh37)
Canonical SPDI:: NC_000002.12:197596018:A:G
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.197596019A>G, NC_000002.11:g.198460743A>G, XM_011510595.4:c.1205T>C, XM_011510595.3:c.1205T>C, XM_011510595.2:c.1205T>C, XM_011510595.1:c.1205T>C, XM_011510596.4:c.1205T>C, XM_011510596.3:c.1205T>C, XM_011510596.2:c.1205T>C, XM_011510596.1:c.1205T>C, XM_011510597.4:c.1205T>C, XM_011510597.3:c.1205T>C, XM_011510597.2:c.1205T>C, XM_011510597.1:c.1205T>C, XM_011510598.4:c.1154T>C, XM_011510598.3:c.1154T>C, XM_011510598.2:c.1154T>C, XM_011510598.1:c.1154T>C, NM_144629.3:c.1205T>C, NM_144629.2:c.1205T>C, XM_017003332.3:c.1154T>C, XM_017003332.2:c.1154T>C, XM_017003332.1:c.1154T>C, XP_011508897.1:p.Met402Thr, XP_011508898.1:p.Met402Thr, XP_011508899.1:p.Met402Thr, XP_011508900.1:p.Met385Thr, NP_653230.2:p.Met402Thr, XP_016858821.1:p.Met385Thr

Select item 144103587118.

rs1441035871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:197633729 (GRCh38)
2:198498453 (GRCh37)
Canonical SPDI:: NC_000002.12:197633728:C:T
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197633729C>T, NC_000002.11:g.198498453C>T, XM_011510595.4:c.707G>A, XM_011510595.3:c.707G>A, XM_011510595.2:c.707G>A, XM_011510595.1:c.707G>A, XM_011510596.4:c.707G>A, XM_011510596.3:c.707G>A, XM_011510596.2:c.707G>A, XM_011510596.1:c.707G>A, XM_011510597.4:c.707G>A, XM_011510597.3:c.707G>A, XM_011510597.2:c.707G>A, XM_011510597.1:c.707G>A, XM_011510598.4:c.656G>A, XM_011510598.3:c.656G>A, XM_011510598.2:c.656G>A, XM_011510598.1:c.656G>A, NM_144629.3:c.707G>A, NM_144629.2:c.707G>A, XM_017003332.3:c.656G>A, XM_017003332.2:c.656G>A, XM_017003332.1:c.656G>A, XP_011508897.1:p.Arg236Lys, XP_011508898.1:p.Arg236Lys, XP_011508899.1:p.Arg236Lys, XP_011508900.1:p.Arg219Lys, NP_653230.2:p.Arg236Lys, XP_016858821.1:p.Arg219Lys

Select item 144089703919.

rs1440897039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:197633907 (GRCh38)
2:198498631 (GRCh37)
Canonical SPDI:: NC_000002.12:197633906:C:T
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197633907C>T, NC_000002.11:g.198498631C>T, XM_011510595.4:c.529G>A, XM_011510595.3:c.529G>A, XM_011510595.2:c.529G>A, XM_011510595.1:c.529G>A, XM_011510596.4:c.529G>A, XM_011510596.3:c.529G>A, XM_011510596.2:c.529G>A, XM_011510596.1:c.529G>A, XM_011510597.4:c.529G>A, XM_011510597.3:c.529G>A, XM_011510597.2:c.529G>A, XM_011510597.1:c.529G>A, XM_011510598.4:c.478G>A, XM_011510598.3:c.478G>A, XM_011510598.2:c.478G>A, XM_011510598.1:c.478G>A, NM_144629.3:c.529G>A, NM_144629.2:c.529G>A, XM_017003332.3:c.478G>A, XM_017003332.2:c.478G>A, XM_017003332.1:c.478G>A, XP_011508897.1:p.Asp177Asn, XP_011508898.1:p.Asp177Asn, XP_011508899.1:p.Asp177Asn, XP_011508900.1:p.Asp160Asn, NP_653230.2:p.Asp177Asn, XP_016858821.1:p.Asp160Asn

Select item 144033498720.

rs1440334987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:197633961 (GRCh38)
2:198498685 (GRCh37)
Canonical SPDI:: NC_000002.12:197633960:C:T
Gene:: RFTN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.197633961C>T, NC_000002.11:g.198498685C>T, XM_011510595.4:c.475G>A, XM_011510595.3:c.475G>A, XM_011510595.2:c.475G>A, XM_011510595.1:c.475G>A, XM_011510596.4:c.475G>A, XM_011510596.3:c.475G>A, XM_011510596.2:c.475G>A, XM_011510596.1:c.475G>A, XM_011510597.4:c.475G>A, XM_011510597.3:c.475G>A, XM_011510597.2:c.475G>A, XM_011510597.1:c.475G>A, NM_144629.3:c.475G>A, NM_144629.2:c.475G>A, XP_011508897.1:p.Gly159Arg, XP_011508898.1:p.Gly159Arg, XP_011508899.1:p.Gly159Arg, NP_653230.2:p.Gly159Arg

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Result Filters

Validation Status

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Global MAF

Custom range

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Items: 1 to 20 of 468

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