SNP Links for Protein (Select 33598931) - SNP

Links from Protein

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Select item 14893639131.

rs1489363913 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCC [Show Flanks]
Chromosome:: 17:1645684 (GRCh38)
17:1548979 (GRCh37)
Canonical SPDI:: NC_000017.11:1645684:GCCC:GCCCGCCC
Gene:: SCARF1 (Varview), RILP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCGCCC=0./0 (ALFA)
GCCC=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1645685_1645688dup, NC_000017.10:g.1548979_1548982dup, NG_033061.1:g.9411_9414dup, NT_187611.1:g.75713_75716dup, NM_003693.4:c.10_13dup, NM_003693.3:c.10_13dup, NR_028075.3:n.45_48dup, NR_028075.2:n.102_105dup, NM_145350.3:c.10_13dup, NM_145350.2:c.10_13dup, NR_102409.2:n.45_48dup, NR_102409.1:n.102_105dup, NM_145352.2:c.10_13dup, NR_028076.1:n.60_63dup, NM_145351.1:c.10_13dup, NM_145349.1:c.10_13dup, NM_145352.1:c.10_13dup, NP_003684.2:p.Leu5fs, NP_663325.1:p.Leu5fs

Select item 14891337072.

rs1489133707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1643766 (GRCh38)
17:1547060 (GRCh37)
Canonical SPDI:: NC_000017.11:1643765:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.1643766G>A, NC_000017.10:g.1547060G>A, NT_187611.1:g.73794G>A, NM_003693.4:c.467C>T, NM_003693.3:c.467C>T, NR_028075.3:n.502C>T, NR_028075.2:n.559C>T, NM_145350.3:c.467C>T, NM_145350.2:c.467C>T, NR_102409.2:n.539C>T, NR_102409.1:n.596C>T, NM_145352.2:c.467C>T, NR_028076.1:n.517C>T, NM_145351.1:c.467C>T, NM_145349.1:c.467C>T, NM_145352.1:c.467C>T, NP_003684.2:p.Ser156Leu, NP_663325.1:p.Ser156Leu

Select item 14877802563.

rs1487780256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1643543 (GRCh38)
17:1546837 (GRCh37)
Canonical SPDI:: NC_000017.11:1643542:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.1643543G>A, NC_000017.10:g.1546837G>A, NT_187611.1:g.73571G>A, NM_003693.4:c.690C>T, NM_003693.3:c.690C>T, NR_028075.3:n.725C>T, NR_028075.2:n.782C>T, NM_145350.3:c.690C>T, NM_145350.2:c.690C>T, NR_102409.2:n.762C>T, NR_102409.1:n.819C>T, NM_145352.2:c.690C>T, NR_028076.1:n.740C>T, NM_145351.1:c.690C>T, NM_145349.1:c.690C>T, NM_145352.1:c.690C>T

Select item 14863964304.

rs1486396430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1643606 (GRCh38)
17:1546900 (GRCh37)
Canonical SPDI:: NC_000017.11:1643605:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1643606G>A, NC_000017.10:g.1546900G>A, NT_187611.1:g.73634G>A, NM_003693.4:c.627C>T, NM_003693.3:c.627C>T, NR_028075.3:n.662C>T, NR_028075.2:n.719C>T, NM_145350.3:c.627C>T, NM_145350.2:c.627C>T, NR_102409.2:n.699C>T, NR_102409.1:n.756C>T, NM_145352.2:c.627C>T, NR_028076.1:n.677C>T, NM_145351.1:c.627C>T, NM_145349.1:c.627C>T, NM_145352.1:c.627C>T

Select item 14844397915.

rs1484439791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:1635530 (GRCh38)
17:1538824 (GRCh37)
Canonical SPDI:: NC_000017.11:1635529:A:G
Gene:: SCARF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1635530A>G, NC_000017.10:g.1538824A>G, NT_187611.1:g.65558A>G, NM_003693.4:c.1721T>C, NM_003693.3:c.1721T>C, NR_028075.3:n.1686T>C, NR_028075.2:n.1743T>C, NM_145350.3:c.1684T>C, NM_145350.2:c.1684T>C, NR_102409.2:n.1793T>C, NR_102409.1:n.1850T>C, NM_145352.2:c.1463T>C, NR_028076.1:n.2178T>C, NM_145351.1:c.*1114T>C, NM_145349.1:c.*622T>C, NM_145352.1:c.1463T>C, NP_003684.2:p.Phe574Ser, NP_663325.1:p.Ser562Pro

Select item 14840632196.

rs1484063219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1637022 (GRCh38)
17:1540316 (GRCh37)
Canonical SPDI:: NC_000017.11:1637021:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1637022G>A, NC_000017.10:g.1540316G>A, NT_187611.1:g.67050G>A, NM_003693.4:c.1405C>T, NM_003693.3:c.1405C>T, NR_028075.3:n.1370C>T, NR_028075.2:n.1427C>T, NM_145350.3:c.1405C>T, NM_145350.2:c.1405C>T, NR_102409.2:n.1477C>T, NR_102409.1:n.1534C>T, NM_145352.2:c.1147C>T, NR_028076.1:n.1862C>T, NM_145351.1:c.*798C>T, NM_145349.1:c.*306C>T, NM_145352.1:c.1147C>T, NP_003684.2:p.Gln469Ter, NP_663325.1:p.Gln469Ter

Select item 14830167817.

rs1483016781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1639947 (GRCh38)
17:1543241 (GRCh37)
Canonical SPDI:: NC_000017.11:1639946:C:T
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.1639947C>T, NC_000017.10:g.1543241C>T, NT_187611.1:g.69975C>T, NM_003693.4:c.1104G>A, NM_003693.3:c.1104G>A, NR_028075.3:n.1069G>A, NR_028075.2:n.1126G>A, NM_145350.3:c.1104G>A, NM_145350.2:c.1104G>A, NR_102409.2:n.1176G>A, NR_102409.1:n.1233G>A, NR_028076.1:n.1561G>A, NM_145351.1:c.*497G>A, NM_145349.1:c.*5G>A

Select item 14820147228.

rs1482014722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1639916 (GRCh38)
17:1543210 (GRCh37)
Canonical SPDI:: NC_000017.11:1639915:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1639916G>A, NC_000017.10:g.1543210G>A, NT_187611.1:g.69944G>A, NM_003693.4:c.1135C>T, NM_003693.3:c.1135C>T, NR_028075.3:n.1100C>T, NR_028075.2:n.1157C>T, NM_145350.3:c.1135C>T, NM_145350.2:c.1135C>T, NR_102409.2:n.1207C>T, NR_102409.1:n.1264C>T, NR_028076.1:n.1592C>T, NM_145351.1:c.*528C>T, NM_145349.1:c.*36C>T, NP_003684.2:p.Pro379Ser, NP_663325.1:p.Pro379Ser

Select item 14794471389.

rs1479447138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1643753 (GRCh38)
17:1547047 (GRCh37)
Canonical SPDI:: NC_000017.11:1643752:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1643753G>A, NC_000017.10:g.1547047G>A, NT_187611.1:g.73781G>A, NM_003693.4:c.480C>T, NM_003693.3:c.480C>T, NR_028075.3:n.515C>T, NR_028075.2:n.572C>T, NM_145350.3:c.480C>T, NM_145350.2:c.480C>T, NR_102409.2:n.552C>T, NR_102409.1:n.609C>T, NM_145352.2:c.480C>T, NR_028076.1:n.530C>T, NM_145351.1:c.480C>T, NM_145349.1:c.480C>T, NM_145352.1:c.480C>T

Select item 147896898310.

rs1478968983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1640454 (GRCh38)
17:1543748 (GRCh37)
Canonical SPDI:: NC_000017.11:1640453:C:T
Gene:: SCARF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.1640454C>T, NC_000017.10:g.1543748C>T, NT_187611.1:g.70482C>T, NM_003693.4:c.1004G>A, NM_003693.3:c.1004G>A, NR_028075.3:n.1039G>A, NR_028075.2:n.1096G>A, NM_145350.3:c.1004G>A, NM_145350.2:c.1004G>A, NR_102409.2:n.1076G>A, NR_102409.1:n.1133G>A, NR_028076.1:n.1054G>A, NM_145351.1:c.1004G>A, NM_145349.1:c.1004G>A, NP_003684.2:p.Gly335Glu, NP_663325.1:p.Gly335Glu

Select item 147869842311.

rs1478698423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:1643830 (GRCh38)
17:1547124 (GRCh37)
Canonical SPDI:: NC_000017.11:1643829:A:G
Gene:: SCARF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.1643830A>G, NC_000017.10:g.1547124A>G, NT_187611.1:g.73858A>G, NM_003693.4:c.403T>C, NM_003693.3:c.403T>C, NR_028075.3:n.438T>C, NR_028075.2:n.495T>C, NM_145350.3:c.403T>C, NM_145350.2:c.403T>C, NR_102409.2:n.475T>C, NR_102409.1:n.532T>C, NM_145352.2:c.403T>C, NR_028076.1:n.453T>C, NM_145351.1:c.403T>C, NM_145349.1:c.403T>C, NM_145352.1:c.403T>C, NP_003684.2:p.Cys135Arg, NP_663325.1:p.Cys135Arg

Select item 147768971312.

rs1477689713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:1643485 (GRCh38)
17:1546779 (GRCh37)
Canonical SPDI:: NC_000017.11:1643484:G:A,NC_000017.11:1643484:G:C
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.1643485G>A, NC_000017.11:g.1643485G>C, NC_000017.10:g.1546779G>A, NC_000017.10:g.1546779G>C, NT_187611.1:g.73513G>A, NT_187611.1:g.73513G>C, NM_003693.4:c.748C>T, NM_003693.4:c.748C>G, NM_003693.3:c.748C>T, NM_003693.3:c.748C>G, NR_028075.3:n.783C>T, NR_028075.3:n.783C>G, NR_028075.2:n.840C>T, NR_028075.2:n.840C>G, NM_145350.3:c.748C>T, NM_145350.3:c.748C>G, NM_145350.2:c.748C>T, NM_145350.2:c.748C>G, NR_102409.2:n.820C>T, NR_102409.2:n.820C>G, NR_102409.1:n.877C>T, NR_102409.1:n.877C>G, NM_145352.2:c.748C>T, NM_145352.2:c.748C>G, NR_028076.1:n.798C>T, NR_028076.1:n.798C>G, NM_145351.1:c.748C>T, NM_145351.1:c.748C>G, NM_145349.1:c.748C>T, NM_145349.1:c.748C>G, NM_145352.1:c.748C>T, NM_145352.1:c.748C>G, NP_003684.2:p.Leu250Val, NP_663325.1:p.Leu250Val

Select item 147639417213.

rs1476394172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1636945 (GRCh38)
17:1540239 (GRCh37)
Canonical SPDI:: NC_000017.11:1636944:C:T
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1636945C>T, NC_000017.10:g.1540239C>T, NT_187611.1:g.66973C>T, NM_003693.4:c.1482G>A, NM_003693.3:c.1482G>A, NR_028075.3:n.1447G>A, NR_028075.2:n.1504G>A, NM_145350.3:c.1482G>A, NM_145350.2:c.1482G>A, NR_102409.2:n.1554G>A, NR_102409.1:n.1611G>A, NM_145352.2:c.1224G>A, NR_028076.1:n.1939G>A, NM_145351.1:c.*875G>A, NM_145349.1:c.*383G>A, NM_145352.1:c.1224G>A

Select item 147542128914.

rs1475421289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1638882 (GRCh38)
17:1542176 (GRCh37)
Canonical SPDI:: NC_000017.11:1638881:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.1638882G>A, NC_000017.10:g.1542176G>A, NT_187611.1:g.68910G>A, NM_003693.4:c.1288C>T, NM_003693.3:c.1288C>T, NR_028075.3:n.1253C>T, NR_028075.2:n.1310C>T, NM_145350.3:c.1288C>T, NM_145350.2:c.1288C>T, NR_102409.2:n.1360C>T, NR_102409.1:n.1417C>T, NM_145352.2:c.1030C>T, NR_028076.1:n.1745C>T, NM_145351.1:c.*681C>T, NM_145349.1:c.*189C>T, NM_145352.1:c.1030C>T, NP_003684.2:p.Pro430Ser, NP_663325.1:p.Pro430Ser

Select item 147480025815.

rs1474800258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:1643807 (GRCh38)
17:1547101 (GRCh37)
Canonical SPDI:: NC_000017.11:1643806:G:A,NC_000017.11:1643806:G:C
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1643807G>A, NC_000017.11:g.1643807G>C, NC_000017.10:g.1547101G>A, NC_000017.10:g.1547101G>C, NT_187611.1:g.73835G>A, NT_187611.1:g.73835G>C, NM_003693.4:c.426C>T, NM_003693.4:c.426C>G, NM_003693.3:c.426C>T, NM_003693.3:c.426C>G, NR_028075.3:n.461C>T, NR_028075.3:n.461C>G, NR_028075.2:n.518C>T, NR_028075.2:n.518C>G, NM_145350.3:c.426C>T, NM_145350.3:c.426C>G, NM_145350.2:c.426C>T, NM_145350.2:c.426C>G, NR_102409.2:n.498C>T, NR_102409.2:n.498C>G, NR_102409.1:n.555C>T, NR_102409.1:n.555C>G, NM_145352.2:c.426C>T, NM_145352.2:c.426C>G, NR_028076.1:n.476C>T, NR_028076.1:n.476C>G, NM_145351.1:c.426C>T, NM_145351.1:c.426C>G, NM_145349.1:c.426C>T, NM_145349.1:c.426C>G, NM_145352.1:c.426C>T, NM_145352.1:c.426C>G, NP_003684.2:p.Asp142Glu, NP_663325.1:p.Asp142Glu

Select item 147464529816.

rs1474645298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1643489 (GRCh38)
17:1546783 (GRCh37)
Canonical SPDI:: NC_000017.11:1643488:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1643489G>A, NC_000017.10:g.1546783G>A, NT_187611.1:g.73517G>A, NM_003693.4:c.744C>T, NM_003693.3:c.744C>T, NR_028075.3:n.779C>T, NR_028075.2:n.836C>T, NM_145350.3:c.744C>T, NM_145350.2:c.744C>T, NR_102409.2:n.816C>T, NR_102409.1:n.873C>T, NM_145352.2:c.744C>T, NR_028076.1:n.794C>T, NM_145351.1:c.744C>T, NM_145349.1:c.744C>T, NM_145352.1:c.744C>T

Select item 147435453317.

rs1474354533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1644834 (GRCh38)
17:1548128 (GRCh37)
Canonical SPDI:: NC_000017.11:1644833:G:A
Gene:: SCARF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1644834G>A, NC_000017.10:g.1548128G>A, NG_033061.1:g.10265C>T, NT_187611.1:g.74862G>A, NM_003693.4:c.265C>T, NM_003693.3:c.265C>T, NR_028075.3:n.300C>T, NR_028075.2:n.357C>T, NM_145350.3:c.265C>T, NM_145350.2:c.265C>T, NR_102409.2:n.337C>T, NR_102409.1:n.394C>T, NM_145352.2:c.265C>T, NR_028076.1:n.315C>T, NM_145351.1:c.265C>T, NM_145349.1:c.265C>T, NM_145352.1:c.265C>T, NP_003684.2:p.Arg89Cys, NP_663325.1:p.Arg89Cys

Select item 147382574218.

rs1473825742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1639921 (GRCh38)
17:1543215 (GRCh37)
Canonical SPDI:: NC_000017.11:1639920:C:T
Gene:: SCARF1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1639921C>T, NC_000017.10:g.1543215C>T, NT_187611.1:g.69949C>T, NM_003693.4:c.1130G>A, NM_003693.3:c.1130G>A, NR_028075.3:n.1095G>A, NR_028075.2:n.1152G>A, NM_145350.3:c.1130G>A, NM_145350.2:c.1130G>A, NR_102409.2:n.1202G>A, NR_102409.1:n.1259G>A, NR_028076.1:n.1587G>A, NM_145351.1:c.*523G>A, NM_145349.1:c.*31G>A, NP_003684.2:p.Trp377Ter, NP_663325.1:p.Trp377Ter

Select item 147244191419.

rs1472441914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1644907 (GRCh38)
17:1548201 (GRCh37)
Canonical SPDI:: NC_000017.11:1644906:C:T
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.1644907C>T, NC_000017.10:g.1548201C>T, NG_033061.1:g.10192G>A, NT_187611.1:g.74935C>T, NM_003693.4:c.192G>A, NM_003693.3:c.192G>A, NR_028075.3:n.227G>A, NR_028075.2:n.284G>A, NM_145350.3:c.192G>A, NM_145350.2:c.192G>A, NR_102409.2:n.264G>A, NR_102409.1:n.321G>A, NM_145352.2:c.192G>A, NR_028076.1:n.242G>A, NM_145351.1:c.192G>A, NM_145349.1:c.192G>A, NM_145352.1:c.192G>A

Select item 146561029720.

rs1465610297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1635574 (GRCh38)
17:1538868 (GRCh37)
Canonical SPDI:: NC_000017.11:1635573:C:T
Gene:: SCARF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.1635574C>T, NC_000017.10:g.1538868C>T, NT_187611.1:g.65602C>T, NM_003693.4:c.1677G>A, NM_003693.3:c.1677G>A, NR_028075.3:n.1642G>A, NR_028075.2:n.1699G>A, NM_145350.3:c.1640G>A, NM_145350.2:c.1640G>A, NR_102409.2:n.1749G>A, NR_102409.1:n.1806G>A, NM_145352.2:c.1419G>A, NR_028076.1:n.2134G>A, NM_145351.1:c.*1070G>A, NM_145349.1:c.*578G>A, NM_145352.1:c.1419G>A, NP_663325.1:p.Trp547Ter

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