SNP Links for Protein (Select 767913866) - SNP

Links from Protein

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Select item 14901116971.

rs1490111697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:26176357 (GRCh38)
2:26399226 (GRCh37)
Canonical SPDI:: NC_000002.12:26176356:G:C
Gene:: GAREM2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,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_exomes)
C=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.26176357G>C, NC_000002.11:g.26399226G>C, XM_006711951.5:c.126G>C, XM_006711951.4:c.126G>C, XM_006711951.3:c.126G>C, XM_006711951.2:c.126G>C, XM_006711951.1:c.126G>C, XM_011532565.4:c.120G>C, XM_011532565.3:c.120G>C, XM_011532565.2:c.120G>C, XM_011532565.1:c.120G>C, XM_011532567.4:c.126G>C, XM_011532567.3:c.126G>C, XM_011532567.2:c.126G>C, XM_011532567.1:c.126G>C, XM_011532564.3:c.120G>C, XM_011532564.2:c.120G>C, XM_011532564.1:c.120G>C, NM_001168241.2:c.126G>C, NM_001168241.1:c.126G>C, XP_006712014.1:p.Glu42Asp, XP_011530867.1:p.Glu40Asp, XP_011530869.1:p.Glu42Asp, XP_011530866.1:p.Glu40Asp, NP_001161713.1:p.Glu42Asp

Select item 14897511072.

rs1489751107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:26183077 (GRCh38)
2:26405946 (GRCh37)
Canonical SPDI:: NC_000002.12:26183076:G:A
Gene:: GAREM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26183077G>A, NC_000002.11:g.26405946G>A, XM_006711951.5:c.364G>A, XM_006711951.4:c.364G>A, XM_006711951.3:c.364G>A, XM_006711951.2:c.364G>A, XM_006711951.1:c.364G>A, XM_011532565.4:c.358G>A, XM_011532565.3:c.358G>A, XM_011532565.2:c.358G>A, XM_011532565.1:c.358G>A, XM_011532567.4:c.364G>A, XM_011532567.3:c.364G>A, XM_011532567.2:c.364G>A, XM_011532567.1:c.364G>A, XM_011532564.3:c.358G>A, XM_011532564.2:c.358G>A, XM_011532564.1:c.358G>A, XM_011532566.3:c.7G>A, XM_011532566.2:c.7G>A, XM_011532566.1:c.7G>A, NM_001191033.2:c.133G>A, NM_001191033.1:c.133G>A, NM_001168241.2:c.364G>A, NM_001168241.1:c.364G>A, XP_006712014.1:p.Ala122Thr, XP_011530867.1:p.Ala120Thr, XP_011530869.1:p.Ala122Thr, XP_011530866.1:p.Ala120Thr, XP_011530868.1:p.Ala3Thr, NP_001177962.1:p.Ala45Thr, NP_001161713.1:p.Ala122Thr

Select item 14890329453.

rs1489032945 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCCGCCCGCCG>- [Show Flanks]
Chromosome:: 2:26185113 (GRCh38)
2:26407982 (GRCh37)
Canonical SPDI:: NC_000002.12:26185104:GCCCGCCGCGCCGCCCGCCG:GCCCGCCG
Gene:: GAREM2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000002.12:g.26185113_26185124del, NC_000002.11:g.26407982_26407993del, XM_006711951.5:c.1265_1276del, XM_006711951.4:c.1265_1276del, XM_006711951.3:c.1265_1276del, XM_006711951.2:c.1265_1276del, XM_006711951.1:c.1265_1276del, XM_011532565.4:c.1259_1270del, XM_011532565.3:c.1259_1270del, XM_011532565.2:c.1259_1270del, XM_011532565.1:c.1259_1270del, XM_011532567.4:c.1265_1276del, XM_011532567.3:c.1265_1276del, XM_011532567.2:c.1265_1276del, XM_011532567.1:c.1265_1276del, XM_011532564.3:c.1259_1270del, XM_011532564.2:c.1259_1270del, XM_011532564.1:c.1259_1270del, XM_011532566.3:c.908_919del, XM_011532566.2:c.908_919del, XM_011532566.1:c.908_919del, NM_001191033.2:c.1034_1045del, NM_001191033.1:c.1034_1045del, NM_001168241.2:c.1265_1276del, NM_001168241.1:c.1265_1276del, XP_006712014.1:p.Ala422_Ala425del, XP_011530867.1:p.Ala420_Ala423del, XP_011530869.1:p.Ala422_Ala425del, XP_011530866.1:p.Ala420_Ala423del, XP_011530868.1:p.Ala303_Ala306del, NP_001177962.1:p.Ala345_Ala348del, NP_001161713.1:p.Ala422_Ala425del

Select item 14888297624.

rs1488829762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:26184724 (GRCh38)
2:26407593 (GRCh37)
Canonical SPDI:: NC_000002.12:26184723:T:A
Gene:: GAREM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26184724T>A, NC_000002.11:g.26407593T>A, XM_006711951.5:c.876T>A, XM_006711951.4:c.876T>A, XM_006711951.3:c.876T>A, XM_006711951.2:c.876T>A, XM_006711951.1:c.876T>A, XM_011532565.4:c.870T>A, XM_011532565.3:c.870T>A, XM_011532565.2:c.870T>A, XM_011532565.1:c.870T>A, XM_011532567.4:c.876T>A, XM_011532567.3:c.876T>A, XM_011532567.2:c.876T>A, XM_011532567.1:c.876T>A, XM_011532564.3:c.870T>A, XM_011532564.2:c.870T>A, XM_011532564.1:c.870T>A, XM_011532566.3:c.519T>A, XM_011532566.2:c.519T>A, XM_011532566.1:c.519T>A, NM_001191033.2:c.645T>A, NM_001191033.1:c.645T>A, NM_001168241.2:c.876T>A, NM_001168241.1:c.876T>A

Select item 14888086025.

rs1488808602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26183067 (GRCh38)
2:26405936 (GRCh37)
Canonical SPDI:: NC_000002.12:26183066:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.26183067C>T, NC_000002.11:g.26405936C>T, XM_006711951.5:c.354C>T, XM_006711951.4:c.354C>T, XM_006711951.3:c.354C>T, XM_006711951.2:c.354C>T, XM_006711951.1:c.354C>T, XM_011532565.4:c.348C>T, XM_011532565.3:c.348C>T, XM_011532565.2:c.348C>T, XM_011532565.1:c.348C>T, XM_011532567.4:c.354C>T, XM_011532567.3:c.354C>T, XM_011532567.2:c.354C>T, XM_011532567.1:c.354C>T, XM_011532564.3:c.348C>T, XM_011532564.2:c.348C>T, XM_011532564.1:c.348C>T, XM_011532566.3:c.-4C>T, XM_011532566.2:c.-4C>T, XM_011532566.1:c.-4C>T, NM_001191033.2:c.123C>T, NM_001191033.1:c.123C>T, NM_001168241.2:c.354C>T, NM_001168241.1:c.354C>T

Select item 14882051356.

rs1488205135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:26185112 (GRCh38)
2:26407981 (GRCh37)
Canonical SPDI:: NC_000002.12:26185111:G:C
Gene:: GAREM2 (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_000002.12:g.26185112G>C, NC_000002.11:g.26407981G>C, XM_006711951.5:c.1264G>C, XM_006711951.4:c.1264G>C, XM_006711951.3:c.1264G>C, XM_006711951.2:c.1264G>C, XM_006711951.1:c.1264G>C, XM_011532565.4:c.1258G>C, XM_011532565.3:c.1258G>C, XM_011532565.2:c.1258G>C, XM_011532565.1:c.1258G>C, XM_011532567.4:c.1264G>C, XM_011532567.3:c.1264G>C, XM_011532567.2:c.1264G>C, XM_011532567.1:c.1264G>C, XM_011532564.3:c.1258G>C, XM_011532564.2:c.1258G>C, XM_011532564.1:c.1258G>C, XM_011532566.3:c.907G>C, XM_011532566.2:c.907G>C, XM_011532566.1:c.907G>C, NM_001191033.2:c.1033G>C, NM_001191033.1:c.1033G>C, NM_001168241.2:c.1264G>C, NM_001168241.1:c.1264G>C, XP_006712014.1:p.Ala422Pro, XP_011530867.1:p.Ala420Pro, XP_011530869.1:p.Ala422Pro, XP_011530866.1:p.Ala420Pro, XP_011530868.1:p.Ala303Pro, NP_001177962.1:p.Ala345Pro, NP_001161713.1:p.Ala422Pro

Select item 14881828737.

rs1488182873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:26186285 (GRCh38)
2:26409154 (GRCh37)
Canonical SPDI:: NC_000002.12:26186284:C:A,NC_000002.12:26186284:C:G,NC_000002.12:26186284:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26186285C>A, NC_000002.12:g.26186285C>G, NC_000002.12:g.26186285C>T, NC_000002.11:g.26409154C>A, NC_000002.11:g.26409154C>G, NC_000002.11:g.26409154C>T, XM_006711951.5:c.1525C>A, XM_006711951.5:c.1525C>G, XM_006711951.5:c.1525C>T, XM_006711951.4:c.1525C>A, XM_006711951.4:c.1525C>G, XM_006711951.4:c.1525C>T, XM_006711951.3:c.1525C>A, XM_006711951.3:c.1525C>G, XM_006711951.3:c.1525C>T, XM_006711951.2:c.1525C>A, XM_006711951.2:c.1525C>G, XM_006711951.2:c.1525C>T, XM_006711951.1:c.1525C>A, XM_006711951.1:c.1525C>G, XM_006711951.1:c.1525C>T, XM_011532565.4:c.1519C>A, XM_011532565.4:c.1519C>G, XM_011532565.4:c.1519C>T, XM_011532565.3:c.1519C>A, XM_011532565.3:c.1519C>G, XM_011532565.3:c.1519C>T, XM_011532565.2:c.1519C>A, XM_011532565.2:c.1519C>G, XM_011532565.2:c.1519C>T, XM_011532565.1:c.1519C>A, XM_011532565.1:c.1519C>G, XM_011532565.1:c.1519C>T, XM_011532567.4:c.1525C>A, XM_011532567.4:c.1525C>G, XM_011532567.4:c.1525C>T, XM_011532567.3:c.1525C>A, XM_011532567.3:c.1525C>G, XM_011532567.3:c.1525C>T, XM_011532567.2:c.1525C>A, XM_011532567.2:c.1525C>G, XM_011532567.2:c.1525C>T, XM_011532567.1:c.1525C>A, XM_011532567.1:c.1525C>G, XM_011532567.1:c.1525C>T, XM_011532564.3:c.1519C>A, XM_011532564.3:c.1519C>G, XM_011532564.3:c.1519C>T, XM_011532564.2:c.1519C>A, XM_011532564.2:c.1519C>G, XM_011532564.2:c.1519C>T, XM_011532564.1:c.1519C>A, XM_011532564.1:c.1519C>G, XM_011532564.1:c.1519C>T, XM_011532566.3:c.1168C>A, XM_011532566.3:c.1168C>G, XM_011532566.3:c.1168C>T, XM_011532566.2:c.1168C>A, XM_011532566.2:c.1168C>G, XM_011532566.2:c.1168C>T, XM_011532566.1:c.1168C>A, XM_011532566.1:c.1168C>G, XM_011532566.1:c.1168C>T, NM_001191033.2:c.1294C>A, NM_001191033.2:c.1294C>G, NM_001191033.2:c.1294C>T, NM_001191033.1:c.1294C>A, NM_001191033.1:c.1294C>G, NM_001191033.1:c.1294C>T, NM_001168241.2:c.1525C>A, NM_001168241.2:c.1525C>G, NM_001168241.2:c.1525C>T, NM_001168241.1:c.1525C>A, NM_001168241.1:c.1525C>G, NM_001168241.1:c.1525C>T, XP_006712014.1:p.Arg509Ser, XP_006712014.1:p.Arg509Gly, XP_006712014.1:p.Arg509Cys, XP_011530867.1:p.Arg507Ser, XP_011530867.1:p.Arg507Gly, XP_011530867.1:p.Arg507Cys, XP_011530869.1:p.Arg509Ser, XP_011530869.1:p.Arg509Gly, XP_011530869.1:p.Arg509Cys, XP_011530866.1:p.Arg507Ser, XP_011530866.1:p.Arg507Gly, XP_011530866.1:p.Arg507Cys, XP_011530868.1:p.Arg390Ser, XP_011530868.1:p.Arg390Gly, XP_011530868.1:p.Arg390Cys, NP_001177962.1:p.Arg432Ser, NP_001177962.1:p.Arg432Gly, NP_001177962.1:p.Arg432Cys, NP_001161713.1:p.Arg509Ser, NP_001161713.1:p.Arg509Gly, NP_001161713.1:p.Arg509Cys

Select item 14872772038.

rs1487277203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:26176451 (GRCh38)
2:26399320 (GRCh37)
Canonical SPDI:: NC_000002.12:26176450:G:A,NC_000002.12:26176450:G:C
Gene:: GAREM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.26176451G>A, NC_000002.12:g.26176451G>C, NC_000002.11:g.26399320G>A, NC_000002.11:g.26399320G>C, XM_006711951.5:c.220G>A, XM_006711951.5:c.220G>C, XM_006711951.4:c.220G>A, XM_006711951.4:c.220G>C, XM_006711951.3:c.220G>A, XM_006711951.3:c.220G>C, XM_006711951.2:c.220G>A, XM_006711951.2:c.220G>C, XM_006711951.1:c.220G>A, XM_006711951.1:c.220G>C, XM_011532565.4:c.214G>A, XM_011532565.4:c.214G>C, XM_011532565.3:c.214G>A, XM_011532565.3:c.214G>C, XM_011532565.2:c.214G>A, XM_011532565.2:c.214G>C, XM_011532565.1:c.214G>A, XM_011532565.1:c.214G>C, XM_011532567.4:c.220G>A, XM_011532567.4:c.220G>C, XM_011532567.3:c.220G>A, XM_011532567.3:c.220G>C, XM_011532567.2:c.220G>A, XM_011532567.2:c.220G>C, XM_011532567.1:c.220G>A, XM_011532567.1:c.220G>C, XM_011532564.3:c.214G>A, XM_011532564.3:c.214G>C, XM_011532564.2:c.214G>A, XM_011532564.2:c.214G>C, XM_011532564.1:c.214G>A, XM_011532564.1:c.214G>C, XM_011532566.3:c.-220G>A, XM_011532566.3:c.-220G>C, XM_011532566.2:c.-220G>A, XM_011532566.2:c.-220G>C, XM_011532566.1:c.-220G>A, XM_011532566.1:c.-220G>C, NM_001168241.2:c.220G>A, NM_001168241.2:c.220G>C, NM_001168241.1:c.220G>A, NM_001168241.1:c.220G>C, XP_006712014.1:p.Gly74Arg, XP_006712014.1:p.Gly74Arg, XP_011530867.1:p.Gly72Arg, XP_011530867.1:p.Gly72Arg, XP_011530869.1:p.Gly74Arg, XP_011530869.1:p.Gly74Arg, XP_011530866.1:p.Gly72Arg, XP_011530866.1:p.Gly72Arg, NP_001161713.1:p.Gly74Arg, NP_001161713.1:p.Gly74Arg

Select item 14867367809.

rs1486736780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:26187619 (GRCh38)
2:26410488 (GRCh37)
Canonical SPDI:: NC_000002.12:26187618:G:A,NC_000002.12:26187618:G:T
Gene:: GAREM2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.26187619G>A, NC_000002.12:g.26187619G>T, NC_000002.11:g.26410488G>A, NC_000002.11:g.26410488G>T, XM_011532565.4:c.1981G>A, XM_011532565.4:c.1981G>T, XM_011532565.3:c.1981G>A, XM_011532565.3:c.1981G>T, XM_011532565.2:c.1981G>A, XM_011532565.2:c.1981G>T, XM_011532565.1:c.1981G>A, XM_011532565.1:c.1981G>T, XM_011532564.3:c.1981G>A, XM_011532564.3:c.1981G>T, XM_011532564.2:c.1981G>A, XM_011532564.2:c.1981G>T, XM_011532564.1:c.1981G>A, XM_011532564.1:c.1981G>T, XM_011532566.3:c.1630G>A, XM_011532566.3:c.1630G>T, XM_011532566.2:c.1630G>A, XM_011532566.2:c.1630G>T, XM_011532566.1:c.1630G>A, XM_011532566.1:c.1630G>T, NM_001168241.2:c.1987G>A, NM_001168241.2:c.1987G>T, NM_001168241.1:c.1987G>A, NM_001168241.1:c.1987G>T, XP_011530867.1:p.Ala661Thr, XP_011530867.1:p.Ala661Ser, XP_011530866.1:p.Ala661Thr, XP_011530866.1:p.Ala661Ser, XP_011530868.1:p.Ala544Thr, XP_011530868.1:p.Ala544Ser, NP_001161713.1:p.Ala663Thr, NP_001161713.1:p.Ala663Ser

Select item 148663702010.

rs1486637020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:26184998 (GRCh38)
2:26407867 (GRCh37)
Canonical SPDI:: NC_000002.12:26184997:G:A,NC_000002.12:26184997:G:C
Gene:: GAREM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.26184998G>A, NC_000002.12:g.26184998G>C, NC_000002.11:g.26407867G>A, NC_000002.11:g.26407867G>C, XM_006711951.5:c.1150G>A, XM_006711951.5:c.1150G>C, XM_006711951.4:c.1150G>A, XM_006711951.4:c.1150G>C, XM_006711951.3:c.1150G>A, XM_006711951.3:c.1150G>C, XM_006711951.2:c.1150G>A, XM_006711951.2:c.1150G>C, XM_006711951.1:c.1150G>A, XM_006711951.1:c.1150G>C, XM_011532565.4:c.1144G>A, XM_011532565.4:c.1144G>C, XM_011532565.3:c.1144G>A, XM_011532565.3:c.1144G>C, XM_011532565.2:c.1144G>A, XM_011532565.2:c.1144G>C, XM_011532565.1:c.1144G>A, XM_011532565.1:c.1144G>C, XM_011532567.4:c.1150G>A, XM_011532567.4:c.1150G>C, XM_011532567.3:c.1150G>A, XM_011532567.3:c.1150G>C, XM_011532567.2:c.1150G>A, XM_011532567.2:c.1150G>C, XM_011532567.1:c.1150G>A, XM_011532567.1:c.1150G>C, XM_011532564.3:c.1144G>A, XM_011532564.3:c.1144G>C, XM_011532564.2:c.1144G>A, XM_011532564.2:c.1144G>C, XM_011532564.1:c.1144G>A, XM_011532564.1:c.1144G>C, XM_011532566.3:c.793G>A, XM_011532566.3:c.793G>C, XM_011532566.2:c.793G>A, XM_011532566.2:c.793G>C, XM_011532566.1:c.793G>A, XM_011532566.1:c.793G>C, NM_001191033.2:c.919G>A, NM_001191033.2:c.919G>C, NM_001191033.1:c.919G>A, NM_001191033.1:c.919G>C, NM_001168241.2:c.1150G>A, NM_001168241.2:c.1150G>C, NM_001168241.1:c.1150G>A, NM_001168241.1:c.1150G>C, XP_006712014.1:p.Ala384Thr, XP_006712014.1:p.Ala384Pro, XP_011530867.1:p.Ala382Thr, XP_011530867.1:p.Ala382Pro, XP_011530869.1:p.Ala384Thr, XP_011530869.1:p.Ala384Pro, XP_011530866.1:p.Ala382Thr, XP_011530866.1:p.Ala382Pro, XP_011530868.1:p.Ala265Thr, XP_011530868.1:p.Ala265Pro, NP_001177962.1:p.Ala307Thr, NP_001177962.1:p.Ala307Pro, NP_001161713.1:p.Ala384Thr, NP_001161713.1:p.Ala384Pro

Select item 148571190111.

rs1485711901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26188129 (GRCh38)
2:26410998 (GRCh37)
Canonical SPDI:: NC_000002.12:26188128:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26188129C>T, NC_000002.11:g.26410998C>T, XM_006711951.5:c.2098C>T, XM_006711951.4:c.2098C>T, XM_006711951.3:c.2098C>T, XM_006711951.2:c.2098C>T, XM_006711951.1:c.2098C>T, XM_011532565.4:c.2491C>T, XM_011532565.3:c.2491C>T, XM_011532565.2:c.2491C>T, XM_011532565.1:c.2491C>T, XM_011532564.3:c.2491C>T, XM_011532564.2:c.2491C>T, XM_011532564.1:c.2491C>T, XM_011532566.3:c.2140C>T, XM_011532566.2:c.2140C>T, XM_011532566.1:c.2140C>T, NM_001191033.2:c.1867C>T, NM_001191033.1:c.1867C>T, NM_001168241.2:c.2497C>T, NM_001168241.1:c.2497C>T, XP_006712014.1:p.Arg700Ter, XP_011530867.1:p.Arg831Ter, XP_011530866.1:p.Arg831Ter, XP_011530868.1:p.Arg714Ter, NP_001177962.1:p.Arg623Ter, NP_001161713.1:p.Arg833Ter

Select item 148504376912.

rs1485043769 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:26186302 (GRCh38)
2:26409172 (GRCh37)
Canonical SPDI:: NC_000002.12:26186302:CC:CCC
Gene:: GAREM2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.26186304dup, NC_000002.11:g.26409173dup, XM_006711951.5:c.1544dup, XM_006711951.4:c.1544dup, XM_006711951.3:c.1544dup, XM_006711951.2:c.1544dup, XM_006711951.1:c.1544dup, XM_011532565.4:c.1538dup, XM_011532565.3:c.1538dup, XM_011532565.2:c.1538dup, XM_011532565.1:c.1538dup, XM_011532567.4:c.1544dup, XM_011532567.3:c.1544dup, XM_011532567.2:c.1544dup, XM_011532567.1:c.1544dup, XM_011532564.3:c.1538dup, XM_011532564.2:c.1538dup, XM_011532564.1:c.1538dup, XM_011532566.3:c.1187dup, XM_011532566.2:c.1187dup, XM_011532566.1:c.1187dup, NM_001191033.2:c.1313dup, NM_001191033.1:c.1313dup, NM_001168241.2:c.1544dup, NM_001168241.1:c.1544dup, XP_006712014.1:p.Val516fs, XP_011530867.1:p.Val514fs, XP_011530869.1:p.Val516fs, XP_011530866.1:p.Val514fs, XP_011530868.1:p.Val397fs, NP_001177962.1:p.Val439fs, NP_001161713.1:p.Val516fs

Select item 148447551513.

rs1484475515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:26187889 (GRCh38)
2:26410758 (GRCh37)
Canonical SPDI:: NC_000002.12:26187888:G:C
Gene:: GAREM2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.26187889G>C, NC_000002.11:g.26410758G>C, XM_006711951.5:c.1858G>C, XM_006711951.4:c.1858G>C, XM_006711951.3:c.1858G>C, XM_006711951.2:c.1858G>C, XM_006711951.1:c.1858G>C, XM_011532565.4:c.2251G>C, XM_011532565.3:c.2251G>C, XM_011532565.2:c.2251G>C, XM_011532565.1:c.2251G>C, XM_011532564.3:c.2251G>C, XM_011532564.2:c.2251G>C, XM_011532564.1:c.2251G>C, XM_011532566.3:c.1900G>C, XM_011532566.2:c.1900G>C, XM_011532566.1:c.1900G>C, NM_001191033.2:c.1627G>C, NM_001191033.1:c.1627G>C, NM_001168241.2:c.2257G>C, NM_001168241.1:c.2257G>C, XP_006712014.1:p.Val620Leu, XP_011530867.1:p.Val751Leu, XP_011530866.1:p.Val751Leu, XP_011530868.1:p.Val634Leu, NP_001177962.1:p.Val543Leu, NP_001161713.1:p.Val753Leu

Select item 148381834414.

rs1483818344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26186314 (GRCh38)
2:26409183 (GRCh37)
Canonical SPDI:: NC_000002.12:26186313:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.26186314C>T, NC_000002.11:g.26409183C>T, XM_006711951.5:c.1554C>T, XM_006711951.4:c.1554C>T, XM_006711951.3:c.1554C>T, XM_006711951.2:c.1554C>T, XM_006711951.1:c.1554C>T, XM_011532565.4:c.1548C>T, XM_011532565.3:c.1548C>T, XM_011532565.2:c.1548C>T, XM_011532565.1:c.1548C>T, XM_011532567.4:c.1554C>T, XM_011532567.3:c.1554C>T, XM_011532567.2:c.1554C>T, XM_011532567.1:c.1554C>T, XM_011532564.3:c.1548C>T, XM_011532564.2:c.1548C>T, XM_011532564.1:c.1548C>T, XM_011532566.3:c.1197C>T, XM_011532566.2:c.1197C>T, XM_011532566.1:c.1197C>T, NM_001191033.2:c.1323C>T, NM_001191033.1:c.1323C>T, NM_001168241.2:c.1554C>T, NM_001168241.1:c.1554C>T

Select item 148185125215.

rs1481851252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26187976 (GRCh38)
2:26410845 (GRCh37)
Canonical SPDI:: NC_000002.12:26187975:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26187976C>T, NC_000002.11:g.26410845C>T, XM_006711951.5:c.1945C>T, XM_006711951.4:c.1945C>T, XM_006711951.3:c.1945C>T, XM_006711951.2:c.1945C>T, XM_006711951.1:c.1945C>T, XM_011532565.4:c.2338C>T, XM_011532565.3:c.2338C>T, XM_011532565.2:c.2338C>T, XM_011532565.1:c.2338C>T, XM_011532564.3:c.2338C>T, XM_011532564.2:c.2338C>T, XM_011532564.1:c.2338C>T, XM_011532566.3:c.1987C>T, XM_011532566.2:c.1987C>T, XM_011532566.1:c.1987C>T, NM_001191033.2:c.1714C>T, NM_001191033.1:c.1714C>T, NM_001168241.2:c.2344C>T, NM_001168241.1:c.2344C>T, XP_006712014.1:p.Pro649Ser, XP_011530867.1:p.Pro780Ser, XP_011530866.1:p.Pro780Ser, XP_011530868.1:p.Pro663Ser, NP_001177962.1:p.Pro572Ser, NP_001161713.1:p.Pro782Ser

Select item 148164450016.

rs1481644500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:26176482 (GRCh38)
2:26399351 (GRCh37)
Canonical SPDI:: NC_000002.12:26176481:C:A
Gene:: GAREM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/3 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.26176482C>A, NC_000002.11:g.26399351C>A, XM_006711951.5:c.251C>A, XM_006711951.4:c.251C>A, XM_006711951.3:c.251C>A, XM_006711951.2:c.251C>A, XM_006711951.1:c.251C>A, XM_011532565.4:c.245C>A, XM_011532565.3:c.245C>A, XM_011532565.2:c.245C>A, XM_011532565.1:c.245C>A, XM_011532567.4:c.251C>A, XM_011532567.3:c.251C>A, XM_011532567.2:c.251C>A, XM_011532567.1:c.251C>A, XM_011532564.3:c.245C>A, XM_011532564.2:c.245C>A, XM_011532564.1:c.245C>A, XM_011532566.3:c.-189C>A, XM_011532566.2:c.-189C>A, XM_011532566.1:c.-189C>A, NM_001168241.2:c.251C>A, NM_001168241.1:c.251C>A, XP_006712014.1:p.Pro84Gln, XP_011530867.1:p.Pro82Gln, XP_011530869.1:p.Pro84Gln, XP_011530866.1:p.Pro82Gln, NP_001161713.1:p.Pro84Gln

Select item 148097130117.

rs1480971301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:26185049 (GRCh38)
2:26407918 (GRCh37)
Canonical SPDI:: NC_000002.12:26185048:C:G
Gene:: GAREM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.26185049C>G, NC_000002.11:g.26407918C>G, XM_006711951.5:c.1201C>G, XM_006711951.4:c.1201C>G, XM_006711951.3:c.1201C>G, XM_006711951.2:c.1201C>G, XM_006711951.1:c.1201C>G, XM_011532565.4:c.1195C>G, XM_011532565.3:c.1195C>G, XM_011532565.2:c.1195C>G, XM_011532565.1:c.1195C>G, XM_011532567.4:c.1201C>G, XM_011532567.3:c.1201C>G, XM_011532567.2:c.1201C>G, XM_011532567.1:c.1201C>G, XM_011532564.3:c.1195C>G, XM_011532564.2:c.1195C>G, XM_011532564.1:c.1195C>G, XM_011532566.3:c.844C>G, XM_011532566.2:c.844C>G, XM_011532566.1:c.844C>G, NM_001191033.2:c.970C>G, NM_001191033.1:c.970C>G, NM_001168241.2:c.1201C>G, NM_001168241.1:c.1201C>G, XP_006712014.1:p.Pro401Ala, XP_011530867.1:p.Pro399Ala, XP_011530869.1:p.Pro401Ala, XP_011530866.1:p.Pro399Ala, XP_011530868.1:p.Pro282Ala, NP_001177962.1:p.Pro324Ala, NP_001161713.1:p.Pro401Ala

Select item 148091922118.

rs1480919221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:26176366 (GRCh38)
2:26399235 (GRCh37)
Canonical SPDI:: NC_000002.12:26176365:T:G
Gene:: GAREM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000013/2 (GnomAD_exomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.26176366T>G, NC_000002.11:g.26399235T>G, XM_006711951.5:c.135T>G, XM_006711951.4:c.135T>G, XM_006711951.3:c.135T>G, XM_006711951.2:c.135T>G, XM_006711951.1:c.135T>G, XM_011532565.4:c.129T>G, XM_011532565.3:c.129T>G, XM_011532565.2:c.129T>G, XM_011532565.1:c.129T>G, XM_011532567.4:c.135T>G, XM_011532567.3:c.135T>G, XM_011532567.2:c.135T>G, XM_011532567.1:c.135T>G, XM_011532564.3:c.129T>G, XM_011532564.2:c.129T>G, XM_011532564.1:c.129T>G, NM_001168241.2:c.135T>G, NM_001168241.1:c.135T>G, XP_006712014.1:p.Ser45Arg, XP_011530867.1:p.Ser43Arg, XP_011530869.1:p.Ser45Arg, XP_011530866.1:p.Ser43Arg, NP_001161713.1:p.Ser45Arg

Select item 148013545519.

rs1480135455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:26184430 (GRCh38)
2:26407299 (GRCh37)
Canonical SPDI:: NC_000002.12:26184429:C:G
Gene:: GAREM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/1 (GnomAD_exomes)
G=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.26184430C>G, NC_000002.11:g.26407299C>G, XM_006711951.5:c.582C>G, XM_006711951.4:c.582C>G, XM_006711951.3:c.582C>G, XM_006711951.2:c.582C>G, XM_006711951.1:c.582C>G, XM_011532565.4:c.576C>G, XM_011532565.3:c.576C>G, XM_011532565.2:c.576C>G, XM_011532565.1:c.576C>G, XM_011532567.4:c.582C>G, XM_011532567.3:c.582C>G, XM_011532567.2:c.582C>G, XM_011532567.1:c.582C>G, XM_011532564.3:c.576C>G, XM_011532564.2:c.576C>G, XM_011532564.1:c.576C>G, XM_011532566.3:c.225C>G, XM_011532566.2:c.225C>G, XM_011532566.1:c.225C>G, NM_001191033.2:c.351C>G, NM_001191033.1:c.351C>G, NM_001168241.2:c.582C>G, NM_001168241.1:c.582C>G, XP_006712014.1:p.Ser194Arg, XP_011530867.1:p.Ser192Arg, XP_011530869.1:p.Ser194Arg, XP_011530866.1:p.Ser192Arg, XP_011530868.1:p.Ser75Arg, NP_001177962.1:p.Ser117Arg, NP_001161713.1:p.Ser194Arg

Select item 147915103120.

rs1479151031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:26182993 (GRCh38)
2:26405862 (GRCh37)
Canonical SPDI:: NC_000002.12:26182992:C:A,NC_000002.12:26182992:C:G,NC_000002.12:26182992:C:T
Gene:: GAREM2 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.26182993C>A, NC_000002.12:g.26182993C>G, NC_000002.12:g.26182993C>T, NC_000002.11:g.26405862C>A, NC_000002.11:g.26405862C>G, NC_000002.11:g.26405862C>T, XM_006711951.5:c.280C>A, XM_006711951.5:c.280C>G, XM_006711951.5:c.280C>T, XM_006711951.4:c.280C>A, XM_006711951.4:c.280C>G, XM_006711951.4:c.280C>T, XM_006711951.3:c.280C>A, XM_006711951.3:c.280C>G, XM_006711951.3:c.280C>T, XM_006711951.2:c.280C>A, XM_006711951.2:c.280C>G, XM_006711951.2:c.280C>T, XM_006711951.1:c.280C>A, XM_006711951.1:c.280C>G, XM_006711951.1:c.280C>T, XM_011532565.4:c.274C>A, XM_011532565.4:c.274C>G, XM_011532565.4:c.274C>T, XM_011532565.3:c.274C>A, XM_011532565.3:c.274C>G, XM_011532565.3:c.274C>T, XM_011532565.2:c.274C>A, XM_011532565.2:c.274C>G, XM_011532565.2:c.274C>T, XM_011532565.1:c.274C>A, XM_011532565.1:c.274C>G, XM_011532565.1:c.274C>T, XM_011532567.4:c.280C>A, XM_011532567.4:c.280C>G, XM_011532567.4:c.280C>T, XM_011532567.3:c.280C>A, XM_011532567.3:c.280C>G, XM_011532567.3:c.280C>T, XM_011532567.2:c.280C>A, XM_011532567.2:c.280C>G, XM_011532567.2:c.280C>T, XM_011532567.1:c.280C>A, XM_011532567.1:c.280C>G, XM_011532567.1:c.280C>T, XM_011532564.3:c.274C>A, XM_011532564.3:c.274C>G, XM_011532564.3:c.274C>T, XM_011532564.2:c.274C>A, XM_011532564.2:c.274C>G, XM_011532564.2:c.274C>T, XM_011532564.1:c.274C>A, XM_011532564.1:c.274C>G, XM_011532564.1:c.274C>T, XM_011532566.3:c.-78C>A, XM_011532566.3:c.-78C>G, XM_011532566.3:c.-78C>T, XM_011532566.2:c.-78C>A, XM_011532566.2:c.-78C>G, XM_011532566.2:c.-78C>T, XM_011532566.1:c.-78C>A, XM_011532566.1:c.-78C>G, XM_011532566.1:c.-78C>T, NM_001191033.2:c.49C>A, NM_001191033.2:c.49C>G, NM_001191033.2:c.49C>T, NM_001191033.1:c.49C>A, NM_001191033.1:c.49C>G, NM_001191033.1:c.49C>T, NM_001168241.2:c.280C>A, NM_001168241.2:c.280C>G, NM_001168241.2:c.280C>T, NM_001168241.1:c.280C>A, NM_001168241.1:c.280C>G, NM_001168241.1:c.280C>T, XP_006712014.1:p.Arg94Gly, XP_006712014.1:p.Arg94Trp, XP_011530867.1:p.Arg92Gly, XP_011530867.1:p.Arg92Trp, XP_011530869.1:p.Arg94Gly, XP_011530869.1:p.Arg94Trp, XP_011530866.1:p.Arg92Gly, XP_011530866.1:p.Arg92Trp, NP_001177962.1:p.Arg17Gly, NP_001177962.1:p.Arg17Trp, NP_001161713.1:p.Arg94Gly, NP_001161713.1:p.Arg94Trp

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