SNP Links for Protein (Select 4557351) - SNP

Links from Protein

Items: 1 to 20 of 686

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Select item 14900449091.

rs1490044909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165830973 (GRCh38)
3:165548761 (GRCh37)
Canonical SPDI:: NC_000003.12:165830972:T:C
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165830973T>C, NC_000003.11:g.165548761T>C, NG_009031.1:g.11493A>G, NM_000055.4:c.61A>G, NM_000055.3:c.61A>G, NM_000055.2:c.61A>G, NR_137636.2:n.179A>G, NR_137636.1:n.228A>G, NP_000046.1:p.Met21Val

Select item 14888637372.

rs1488863737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:165831006 (GRCh38)
3:165548794 (GRCh37)
Canonical SPDI:: NC_000003.12:165831005:T:G
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_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_000003.12:g.165831006T>G, NC_000003.11:g.165548794T>G, NG_009031.1:g.11460A>C, NM_000055.4:c.28A>C, NM_000055.3:c.28A>C, NM_000055.2:c.28A>C, NR_137636.2:n.146A>C, NR_137636.1:n.195A>C, NP_000046.1:p.Ile10Leu

Select item 14888038443.

rs1488803844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165830046 (GRCh38)
3:165547834 (GRCh37)
Canonical SPDI:: NC_000003.12:165830045:T:C
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.165830046T>C, NC_000003.11:g.165547834T>C, NG_009031.1:g.12420A>G, NM_000055.4:c.988A>G, NM_000055.3:c.988A>G, NM_000055.2:c.988A>G, NR_137636.2:n.1106A>G, NR_137636.1:n.1155A>G, NP_000046.1:p.Met330Val

Select item 14875158174.

rs1487515817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:165830580 (GRCh38)
3:165548368 (GRCh37)
Canonical SPDI:: NC_000003.12:165830579:A:G
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165830580A>G, NC_000003.11:g.165548368A>G, NG_009031.1:g.11886T>C, NM_000055.4:c.454T>C, NM_000055.3:c.454T>C, NM_000055.2:c.454T>C, NR_137636.2:n.572T>C, NR_137636.1:n.621T>C, NP_000046.1:p.Ser152Pro

Select item 14818218515.

rs1481821851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:165830365 (GRCh38)
3:165548153 (GRCh37)
Canonical SPDI:: NC_000003.12:165830364:A:G
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165830365A>G, NC_000003.11:g.165548153A>G, NG_009031.1:g.12101T>C, NM_000055.4:c.669T>C, NM_000055.3:c.669T>C, NM_000055.2:c.669T>C, NR_137636.2:n.787T>C, NR_137636.1:n.836T>C

Select item 14817500746.

rs1481750074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165829650 (GRCh38)
3:165547438 (GRCh37)
Canonical SPDI:: NC_000003.12:165829649:T:C
Gene:: BCHE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.165829650T>C, NC_000003.11:g.165547438T>C, NG_009031.1:g.12816A>G, NM_000055.4:c.1384A>G, NM_000055.3:c.1384A>G, NM_000055.2:c.1384A>G, NR_137636.2:n.1502A>G, NR_137636.1:n.1551A>G, NP_000046.1:p.Met462Val

Select item 14810982227.

rs1481098222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:165830751 (GRCh38)
3:165548539 (GRCh37)
Canonical SPDI:: NC_000003.12:165830750:G:C,NC_000003.12:165830750:G:T
Gene:: BCHE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.165830751G>C, NC_000003.12:g.165830751G>T, NC_000003.11:g.165548539G>C, NC_000003.11:g.165548539G>T, NG_009031.1:g.11715C>G, NG_009031.1:g.11715C>A, NM_000055.4:c.283C>G, NM_000055.4:c.283C>A, NM_000055.3:c.283C>G, NM_000055.3:c.283C>A, NM_000055.2:c.283C>G, NM_000055.2:c.283C>A, NR_137636.2:n.401C>G, NR_137636.2:n.401C>A, NR_137636.1:n.450C>G, NR_137636.1:n.450C>A, NP_000046.1:p.Gln95Glu, NP_000046.1:p.Gln95Lys

Select item 14798782558.

rs1479878255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165830908 (GRCh38)
3:165548696 (GRCh37)
Canonical SPDI:: NC_000003.12:165830907:T:C
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.165830908T>C, NC_000003.11:g.165548696T>C, NG_009031.1:g.11558A>G, NM_000055.4:c.126A>G, NM_000055.3:c.126A>G, NM_000055.2:c.126A>G, NR_137636.2:n.244A>G, NR_137636.1:n.293A>G

Select item 14749201699.

rs1474920169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCACTCCCATTCTGCTTC [Show Flanks]
Chromosome:: 3:165773477 (GRCh38)
3:165491266 (GRCh37)
Canonical SPDI:: NC_000003.12:165773477:CCACTCCCATTCTGCTTC:CCACTCCCATTCTGCTTCCCACTCCCATTCTGCTTC
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
Validated:: by frequency
MAF:: CCACTCCCATTCTGCTTC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165773478_165773495dup, NC_000003.11:g.165491266_165491283dup, NG_009031.1:g.68971_68988dup, NM_000055.4:c.1696_1713dup, NM_000055.3:c.1696_1713dup, NM_000055.2:c.1696_1713dup, NR_137636.2:n.1893_1910dup, NR_137636.1:n.1942_1959dup, NR_137635.2:n.289_306dup, NR_137635.1:n.338_355dup, NP_000046.1:p.Glu566_Trp571dup

Select item 147456719610.

rs1474567196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:165773483 (GRCh38)
3:165491271 (GRCh37)
Canonical SPDI:: NC_000003.12:165773482:C:A
Gene:: BCHE (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
HGVS:: NC_000003.12:g.165773483C>A, NC_000003.11:g.165491271C>A, NG_009031.1:g.68983G>T, NM_000055.4:c.1708G>T, NM_000055.3:c.1708G>T, NM_000055.2:c.1708G>T, NR_137636.2:n.1905G>T, NR_137636.1:n.1954G>T, NR_137635.2:n.301G>T, NR_137635.1:n.350G>T, NP_000046.1:p.Glu570Ter

Select item 147076983511.

rs1470769835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:165830552 (GRCh38)
3:165548340 (GRCh37)
Canonical SPDI:: NC_000003.12:165830551:A:T
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.165830552A>T, NC_000003.11:g.165548340A>T, NG_009031.1:g.11914T>A, NM_000055.4:c.482T>A, NM_000055.3:c.482T>A, NM_000055.2:c.482T>A, NR_137636.2:n.600T>A, NR_137636.1:n.649T>A, NP_000046.1:p.Leu161Gln

Select item 147068857612.

rs1470688576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:165830660 (GRCh38)
3:165548448 (GRCh37)
Canonical SPDI:: NC_000003.12:165830659:A:G
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165830660A>G, NC_000003.11:g.165548448A>G, NG_009031.1:g.11806T>C, NM_000055.4:c.374T>C, NM_000055.3:c.374T>C, NM_000055.2:c.374T>C, NR_137636.2:n.492T>C, NR_137636.1:n.541T>C, NP_000046.1:p.Val125Ala

Select item 147048700413.

rs1470487004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:165773417 (GRCh38)
3:165491205 (GRCh37)
Canonical SPDI:: NC_000003.12:165773416:A:C
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.165773417A>C, NC_000003.11:g.165491205A>C, NG_009031.1:g.69049T>G, NM_000055.4:c.1774T>G, NM_000055.3:c.1774T>G, NM_000055.2:c.1774T>G, NR_137636.2:n.1971T>G, NR_137636.1:n.2020T>G, NR_137635.2:n.367T>G, NR_137635.1:n.416T>G, NP_000046.1:p.Tyr592Asp

Select item 146789184314.

rs1467891843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:165830856 (GRCh38)
3:165548644 (GRCh37)
Canonical SPDI:: NC_000003.12:165830855:G:A,NC_000003.12:165830855:G:T
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.165830856G>A, NC_000003.12:g.165830856G>T, NC_000003.11:g.165548644G>A, NC_000003.11:g.165548644G>T, NG_009031.1:g.11610C>T, NG_009031.1:g.11610C>A, NM_000055.4:c.178C>T, NM_000055.4:c.178C>A, NM_000055.3:c.178C>T, NM_000055.3:c.178C>A, NM_000055.2:c.178C>T, NM_000055.2:c.178C>A, NR_137636.2:n.296C>T, NR_137636.2:n.296C>A, NR_137636.1:n.345C>T, NR_137636.1:n.345C>A, NP_000046.1:p.Pro60Ser, NP_000046.1:p.Pro60Thr

Select item 146775109715.

rs1467751097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165829835 (GRCh38)
3:165547623 (GRCh37)
Canonical SPDI:: NC_000003.12:165829834:T:C
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.165829835T>C, NC_000003.11:g.165547623T>C, NG_009031.1:g.12631A>G, NM_000055.4:c.1199A>G, NM_000055.3:c.1199A>G, NM_000055.2:c.1199A>G, NR_137636.2:n.1317A>G, NR_137636.1:n.1366A>G, NP_000046.1:p.His400Arg

Select item 146503854416.

rs1465038544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:165786272 (GRCh38)
3:165504060 (GRCh37)
Canonical SPDI:: NC_000003.12:165786271:A:G
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.165786272A>G, NC_000003.11:g.165504060A>G, NG_009031.1:g.56194T>C, NM_000055.4:c.1557T>C, NM_000055.3:c.1557T>C, NM_000055.2:c.1557T>C, NR_137636.2:n.1675T>C, NR_137636.1:n.1724T>C, NR_137635.2:n.150T>C, NR_137635.1:n.199T>C

Select item 146377739117.

rs1463777391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:165830239 (GRCh38)
3:165548027 (GRCh37)
Canonical SPDI:: NC_000003.12:165830238:A:G
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165830239A>G, NC_000003.11:g.165548027A>G, NG_009031.1:g.12227T>C, NM_000055.4:c.795T>C, NM_000055.3:c.795T>C, NM_000055.2:c.795T>C, NR_137636.2:n.913T>C, NR_137636.1:n.962T>C

Select item 146190630118.

rs1461906301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:165830506 (GRCh38)
3:165548294 (GRCh37)
Canonical SPDI:: NC_000003.12:165830505:C:A
Gene:: BCHE (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_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.165830506C>A, NC_000003.11:g.165548294C>A, NG_009031.1:g.11960G>T, NM_000055.4:c.528G>T, NM_000055.3:c.528G>T, NM_000055.2:c.528G>T, NR_137636.2:n.646G>T, NR_137636.1:n.695G>T

Select item 146152705019.

rs1461527050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165786163 (GRCh38)
3:165503951 (GRCh37)
Canonical SPDI:: NC_000003.12:165786162:T:C
Gene:: BCHE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.165786163T>C, NC_000003.11:g.165503951T>C, NG_009031.1:g.56303A>G, NM_000055.4:c.1666A>G, NM_000055.3:c.1666A>G, NM_000055.2:c.1666A>G, NR_137636.2:n.1784A>G, NR_137636.1:n.1833A>G, NR_137635.2:n.259A>G, NR_137635.1:n.308A>G, NP_000046.1:p.Lys556Glu

Select item 145994122520.

rs1459941225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:165829727 (GRCh38)
3:165547515 (GRCh37)
Canonical SPDI:: NC_000003.12:165829726:T:A
Gene:: BCHE (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.165829727T>A, NC_000003.11:g.165547515T>A, NG_009031.1:g.12739A>T, NM_000055.4:c.1307A>T, NM_000055.3:c.1307A>T, NM_000055.2:c.1307A>T, NR_137636.2:n.1425A>T, NR_137636.1:n.1474A>T, NP_000046.1:p.Lys436Met

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