SNP Links for Protein (Select 38570064) - SNP

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:25168348 (GRCh38)
7:25207967 (GRCh37)
Canonical SPDI:: NC_000007.14:25168347:A:C
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_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_000007.14:g.25168348A>C, NC_000007.13:g.25207967A>C, NM_138811.4:c.252T>G, NM_138811.3:c.252T>G, NM_001371351.1:c.252T>G, NM_001371352.1:c.252T>G, XM_047419891.1:c.252T>G

Select item 14852370736.

rs1485237073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:25155014 (GRCh38)
7:25194633 (GRCh37)
Canonical SPDI:: NC_000007.14:25155013:T:C
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: 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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.25155014T>C, NC_000007.13:g.25194633T>C, NM_138811.4:c.592A>G, NM_138811.3:c.592A>G, NM_001371351.1:c.592A>G, NM_001371352.1:c.592A>G, XM_047419891.1:c.592A>G, NP_620166.3:p.Arg198Gly, NP_001358280.1:p.Arg198Gly, NP_001358281.1:p.Arg198Gly, XP_047275847.1:p.Arg198Gly

Select item 14824760897.

rs1482476089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:25155082 (GRCh38)
7:25194701 (GRCh37)
Canonical SPDI:: NC_000007.14:25155081:G:A
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.25155082G>A, NC_000007.13:g.25194701G>A, NM_138811.4:c.524C>T, NM_138811.3:c.524C>T, NM_001371351.1:c.524C>T, NM_001371352.1:c.524C>T, XM_047419891.1:c.524C>T, NP_620166.3:p.Ala175Val, NP_001358280.1:p.Ala175Val, NP_001358281.1:p.Ala175Val, XP_047275847.1:p.Ala175Val

Select item 14796069098.

rs1479606909 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:25155154 (GRCh38)
7:25194773 (GRCh37)
Canonical SPDI:: NC_000007.14:25155145:TGTGTGTGTG:TGTGTGTG
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.25155146TG[4], NC_000007.13:g.25194765TG[4], NM_138811.4:c.459_460del, NM_138811.3:c.459_460del, NM_001371351.1:c.459_460del, NM_001371352.1:c.459_460del, XM_047419891.1:c.459_460del, NP_620166.3:p.Ile154fs, NP_001358280.1:p.Ile154fs, NP_001358281.1:p.Ile154fs, XP_047275847.1:p.Ile154fs

Select item 14779769329.

rs1477976932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:25155019 (GRCh38)
7:25194638 (GRCh37)
Canonical SPDI:: NC_000007.14:25155018:T:C
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.25155019T>C, NC_000007.13:g.25194638T>C, NM_138811.4:c.587A>G, NM_138811.3:c.587A>G, NM_001371351.1:c.587A>G, NM_001371352.1:c.587A>G, XM_047419891.1:c.587A>G, NP_620166.3:p.Lys196Arg, NP_001358280.1:p.Lys196Arg, NP_001358281.1:p.Lys196Arg, XP_047275847.1:p.Lys196Arg

Select item 147751829210.

rs1477518292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:25161226 (GRCh38)
7:25200845 (GRCh37)
Canonical SPDI:: NC_000007.14:25161225:G:T
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.25161226G>T, NC_000007.13:g.25200845G>T, NM_138811.4:c.346C>A, NM_138811.3:c.346C>A, NM_001371351.1:c.346C>A, NM_001371352.1:c.346C>A, XM_047419891.1:c.346C>A, NP_620166.3:p.Gln116Lys, NP_001358280.1:p.Gln116Lys, NP_001358281.1:p.Gln116Lys, XP_047275847.1:p.Gln116Lys

Select item 147690275911.

rs1476902759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:25136671 (GRCh38)
7:25176290 (GRCh37)
Canonical SPDI:: NC_000007.14:25136670:A:C,NC_000007.14:25136670:A:G
Gene:: C7orf31 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.25136671A>C, NC_000007.14:g.25136671A>G, NC_000007.13:g.25176290A>C, NC_000007.13:g.25176290A>G, NM_138811.4:c.1074T>G, NM_138811.4:c.1074T>C, NM_138811.3:c.1074T>G, NM_138811.3:c.1074T>C, XM_011515125.3:c.444T>G, XM_011515125.3:c.444T>C, XM_011515125.2:c.444T>G, XM_011515125.2:c.444T>C, XM_011515125.1:c.444T>G, XM_011515125.1:c.444T>C, NM_001371351.1:c.1074T>G, NM_001371351.1:c.1074T>C, NM_001371352.1:c.1074T>G, NM_001371352.1:c.1074T>C, NP_620166.3:p.Asp358Glu, XP_011513427.1:p.Asp148Glu, NP_001358280.1:p.Asp358Glu, NP_001358281.1:p.Asp358Glu

Select item 147558879812.

rs1475588798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:25136699 (GRCh38)
7:25176318 (GRCh37)
Canonical SPDI:: NC_000007.14:25136698:A:C
Gene:: C7orf31 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.25136699A>C, NC_000007.13:g.25176318A>C, NM_138811.4:c.1046T>G, NM_138811.3:c.1046T>G, XM_011515125.3:c.416T>G, XM_011515125.2:c.416T>G, XM_011515125.1:c.416T>G, NM_001371351.1:c.1046T>G, NM_001371352.1:c.1046T>G, NP_620166.3:p.Val349Gly, XP_011513427.1:p.Val139Gly, NP_001358280.1:p.Val349Gly, NP_001358281.1:p.Val349Gly

Select item 147515246413.

rs1475152464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:25158517 (GRCh38)
7:25198136 (GRCh37)
Canonical SPDI:: NC_000007.14:25158516:G:A
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.25158517G>A, NC_000007.13:g.25198136G>A, NM_138811.4:c.397C>T, NM_138811.3:c.397C>T, XM_011515125.3:c.-52C>T, XM_011515125.2:c.-52C>T, XM_011515125.1:c.-52C>T, NM_001371351.1:c.397C>T, NM_001371352.1:c.397C>T, XM_047419891.1:c.397C>T, NP_620166.3:p.Pro133Ser, NP_001358280.1:p.Pro133Ser, NP_001358281.1:p.Pro133Ser, XP_047275847.1:p.Pro133Ser

Select item 147498830214.

rs1474988302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:25136488 (GRCh38)
7:25176107 (GRCh37)
Canonical SPDI:: NC_000007.14:25136487:G:A,NC_000007.14:25136487:G:C
Gene:: C7orf31 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.25136488G>A, NC_000007.14:g.25136488G>C, NC_000007.13:g.25176107G>A, NC_000007.13:g.25176107G>C, NM_138811.4:c.1257C>T, NM_138811.4:c.1257C>G, NM_138811.3:c.1257C>T, NM_138811.3:c.1257C>G, XM_011515125.3:c.627C>T, XM_011515125.3:c.627C>G, XM_011515125.2:c.627C>T, XM_011515125.2:c.627C>G, XM_011515125.1:c.627C>T, XM_011515125.1:c.627C>G, NM_001371351.1:c.1257C>T, NM_001371351.1:c.1257C>G, NM_001371352.1:c.1257C>T, NM_001371352.1:c.1257C>G, NP_620166.3:p.Asp419Glu, XP_011513427.1:p.Asp209Glu, NP_001358280.1:p.Asp419Glu, NP_001358281.1:p.Asp419Glu

Select item 147142989915.

rs1471429899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:25136561 (GRCh38)
7:25176180 (GRCh37)
Canonical SPDI:: NC_000007.14:25136560:A:C
Gene:: C7orf31 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.004673/1 (Vietnamese)
HGVS:: NC_000007.14:g.25136561A>C, NC_000007.13:g.25176180A>C, NM_138811.4:c.1184T>G, NM_138811.3:c.1184T>G, XM_011515125.3:c.554T>G, XM_011515125.2:c.554T>G, XM_011515125.1:c.554T>G, NM_001371351.1:c.1184T>G, NM_001371352.1:c.1184T>G, NP_620166.3:p.Ile395Ser, XP_011513427.1:p.Ile185Ser, NP_001358280.1:p.Ile395Ser, NP_001358281.1:p.Ile395Ser

Select item 147056666816.

rs1470566668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:25179230 (GRCh38)
7:25218849 (GRCh37)
Canonical SPDI:: NC_000007.14:25179229:T:C
Gene:: C7orf31 (Varview), LOC124901603 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.25179230T>C, NC_000007.13:g.25218849T>C, NM_138811.4:c.79A>G, NM_138811.3:c.79A>G, NM_001371351.1:c.79A>G, NM_001371352.1:c.79A>G, XM_047419891.1:c.79A>G, NP_620166.3:p.Asn27Asp, NP_001358280.1:p.Asn27Asp, NP_001358281.1:p.Asn27Asp, XP_047275847.1:p.Asn27Asp

Select item 146687932517.

rs1466879325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:25142289 (GRCh38)
7:25181908 (GRCh37)
Canonical SPDI:: NC_000007.14:25142288:T:C
Gene:: C7orf31 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.25142289T>C, NC_000007.13:g.25181908T>C, NM_138811.4:c.903A>G, NM_138811.3:c.903A>G, XM_011515125.3:c.273A>G, XM_011515125.2:c.273A>G, XM_011515125.1:c.273A>G, NM_001371351.1:c.903A>G, NM_001371352.1:c.903A>G, XM_047419891.1:c.903A>G

Select item 146596659718.

rs1465966597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:25151667 (GRCh38)
7:25191286 (GRCh37)
Canonical SPDI:: NC_000007.14:25151666:C:A
Gene:: C7orf31 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.25151667C>A, NC_000007.13:g.25191286C>A, NM_138811.4:c.613G>T, NM_138811.3:c.613G>T, XM_011515125.3:c.-18G>T, XM_011515125.2:c.-18G>T, XM_011515125.1:c.-18G>T, NM_001371351.1:c.613G>T, NM_001371352.1:c.613G>T, XM_047419891.1:c.613G>T, NP_620166.3:p.Glu205Ter, NP_001358280.1:p.Glu205Ter, NP_001358281.1:p.Glu205Ter, XP_047275847.1:p.Glu205Ter

Select item 146269578719.

rs1462695787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:25136098 (GRCh38)
7:25175717 (GRCh37)
Canonical SPDI:: NC_000007.14:25136097:T:C
Gene:: C7orf31 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.25136098T>C, NC_000007.13:g.25175717T>C, NM_138811.4:c.1647A>G, NM_138811.3:c.1647A>G, XM_011515125.3:c.1017A>G, XM_011515125.2:c.1017A>G, XM_011515125.1:c.1017A>G, NM_001371351.1:c.1647A>G, NM_001371352.1:c.1647A>G

Select item 146114196520.

rs1461141965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:25136666 (GRCh38)
7:25176285 (GRCh37)
Canonical SPDI:: NC_000007.14:25136665:G:A
Gene:: C7orf31 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.25136666G>A, NC_000007.13:g.25176285G>A, NM_138811.4:c.1079C>T, NM_138811.3:c.1079C>T, XM_011515125.3:c.449C>T, XM_011515125.2:c.449C>T, XM_011515125.1:c.449C>T, NM_001371351.1:c.1079C>T, NM_001371352.1:c.1079C>T, NP_620166.3:p.Thr360Ile, XP_011513427.1:p.Thr150Ile, NP_001358280.1:p.Thr360Ile, NP_001358281.1:p.Thr360Ile

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