SNP Links for Protein (Select 21361649) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70425050 (GRCh38)
X:69644900 (GRCh37)
Canonical SPDI:: NC_000023.11:70425049:C:T
Gene:: GDPD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70425050C>T, NC_000023.10:g.69644900C>T, NG_016413.1:g.7020C>T, NM_017711.4:c.66C>T, NM_017711.3:c.66C>T, NM_001171192.2:c.66C>T, NM_001171192.1:c.66C>T

Select item 14769505488.

rs1476950548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:70430052 (GRCh38)
X:69649902 (GRCh37)
Canonical SPDI:: NC_000023.11:70430051:A:G
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70430052A>G, NC_000023.10:g.69649902A>G, NG_016413.1:g.12022A>G, NM_017711.4:c.1296A>G, NM_017711.3:c.1296A>G, NM_001171192.2:c.1296A>G, NM_001171192.1:c.1296A>G, NM_001171193.2:c.1059A>G, NM_001171193.1:c.1059A>G, NM_001171191.2:c.1059A>G, NM_001171191.1:c.1059A>G, XM_011530977.2:c.915A>G, XM_011530977.1:c.915A>G

Select item 14759518139.

rs1475951813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70427418 (GRCh38)
X:69647268 (GRCh37)
Canonical SPDI:: NC_000023.11:70427417:C:T
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70427418C>T, NC_000023.10:g.69647268C>T, NG_016413.1:g.9388C>T, NM_017711.4:c.891C>T, NM_017711.3:c.891C>T, NM_001171192.2:c.891C>T, NM_001171192.1:c.891C>T, NM_001171193.2:c.654C>T, NM_001171193.1:c.654C>T, NM_001171191.2:c.654C>T, NM_001171191.1:c.654C>T, XM_011530977.2:c.510C>T, XM_011530977.1:c.510C>T, NR_171576.1:n.1504G>A

Select item 147054588310.

rs1470545883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70425802 (GRCh38)
X:69645652 (GRCh37)
Canonical SPDI:: NC_000023.11:70425801:C:T
Gene:: GDPD2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.70425802C>T, NC_000023.10:g.69645652C>T, NG_016413.1:g.7772C>T, NM_017711.4:c.249C>T, NM_017711.3:c.249C>T, NM_001171192.2:c.249C>T, NM_001171192.1:c.249C>T, NM_001171193.2:c.12C>T, NM_001171193.1:c.12C>T, NM_001171191.2:c.12C>T, NM_001171191.1:c.12C>T

Select item 146813501111.

rs1468135011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:70429967 (GRCh38)
X:69649817 (GRCh37)
Canonical SPDI:: NC_000023.11:70429966:G:C
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70429967G>C, NC_000023.10:g.69649817G>C, NG_016413.1:g.11937G>C, NM_017711.4:c.1211G>C, NM_017711.3:c.1211G>C, NM_001171192.2:c.1211G>C, NM_001171192.1:c.1211G>C, NM_001171193.2:c.974G>C, NM_001171193.1:c.974G>C, NM_001171191.2:c.974G>C, NM_001171191.1:c.974G>C, XM_011530977.2:c.830G>C, XM_011530977.1:c.830G>C, NP_060181.2:p.Gly404Ala, NP_001164663.1:p.Gly404Ala, NP_001164664.1:p.Gly325Ala, NP_001164662.1:p.Gly325Ala, XP_011529279.1:p.Gly277Ala

Select item 146698718512.

rs1466987185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70427406 (GRCh38)
X:69647256 (GRCh37)
Canonical SPDI:: NC_000023.11:70427405:C:T
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.70427406C>T, NC_000023.10:g.69647256C>T, NG_016413.1:g.9376C>T, NM_017711.4:c.879C>T, NM_017711.3:c.879C>T, NM_001171192.2:c.879C>T, NM_001171192.1:c.879C>T, NM_001171193.2:c.642C>T, NM_001171193.1:c.642C>T, NM_001171191.2:c.642C>T, NM_001171191.1:c.642C>T, XM_011530977.2:c.498C>T, XM_011530977.1:c.498C>T, NR_171576.1:n.1516G>A

Select item 146525670213.

rs1465256702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:70430014 (GRCh38)
X:69649864 (GRCh37)
Canonical SPDI:: NC_000023.11:70430013:C:G
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.70430014C>G, NC_000023.10:g.69649864C>G, NG_016413.1:g.11984C>G, NM_017711.4:c.1258C>G, NM_017711.3:c.1258C>G, NM_001171192.2:c.1258C>G, NM_001171192.1:c.1258C>G, NM_001171193.2:c.1021C>G, NM_001171193.1:c.1021C>G, NM_001171191.2:c.1021C>G, NM_001171191.1:c.1021C>G, XM_011530977.2:c.877C>G, XM_011530977.1:c.877C>G, NP_060181.2:p.Pro420Ala, NP_001164663.1:p.Pro420Ala, NP_001164664.1:p.Pro341Ala, NP_001164662.1:p.Pro341Ala, XP_011529279.1:p.Pro293Ala

Select item 146194527814.

rs1461945278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:70429510 (GRCh38)
X:69649360 (GRCh37)
Canonical SPDI:: NC_000023.11:70429509:G:T
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.70429510G>T, NC_000023.10:g.69649360G>T, NG_016413.1:g.11480G>T, NM_017711.4:c.954G>T, NM_017711.3:c.954G>T, NM_001171192.2:c.954G>T, NM_001171192.1:c.954G>T, NM_001171193.2:c.717G>T, NM_001171193.1:c.717G>T, NM_001171191.2:c.717G>T, NM_001171191.1:c.717G>T, XM_011530977.2:c.573G>T, XM_011530977.1:c.573G>T

Select item 146190460115.

rs1461904601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70425782 (GRCh38)
X:69645632 (GRCh37)
Canonical SPDI:: NC_000023.11:70425781:G:A
Gene:: GDPD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70425782G>A, NC_000023.10:g.69645632G>A, NG_016413.1:g.7752G>A, NM_017711.4:c.229G>A, NM_017711.3:c.229G>A, NM_001171192.2:c.229G>A, NM_001171192.1:c.229G>A, NM_001171193.2:c.-9G>A, NM_001171193.1:c.-9G>A, NM_001171191.2:c.-9G>A, NM_001171191.1:c.-9G>A, NP_060181.2:p.Gly77Arg, NP_001164663.1:p.Gly77Arg

Select item 146033354916.

rs1460333549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:70429936 (GRCh38)
X:69649786 (GRCh37)
Canonical SPDI:: NC_000023.11:70429935:G:T
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70429936G>T, NC_000023.10:g.69649786G>T, NG_016413.1:g.11906G>T, NM_017711.4:c.1180G>T, NM_017711.3:c.1180G>T, NM_001171192.2:c.1180G>T, NM_001171192.1:c.1180G>T, NM_001171193.2:c.943G>T, NM_001171193.1:c.943G>T, NM_001171191.2:c.943G>T, NM_001171191.1:c.943G>T, XM_011530977.2:c.799G>T, XM_011530977.1:c.799G>T, NP_060181.2:p.Asp394Tyr, NP_001164663.1:p.Asp394Tyr, NP_001164664.1:p.Asp315Tyr, NP_001164662.1:p.Asp315Tyr, XP_011529279.1:p.Asp267Tyr

Select item 145016308217.

rs1450163082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70426648 (GRCh38)
X:69646498 (GRCh37)
Canonical SPDI:: NC_000023.11:70426647:G:A
Gene:: GDPD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.70426648G>A, NC_000023.10:g.69646498G>A, NG_016413.1:g.8618G>A, NM_017711.4:c.463G>A, NM_017711.3:c.463G>A, NM_001171192.2:c.463G>A, NM_001171192.1:c.463G>A, NM_001171193.2:c.226G>A, NM_001171193.1:c.226G>A, NM_001171191.2:c.226G>A, NM_001171191.1:c.226G>A, XM_011530977.2:c.82G>A, XM_011530977.1:c.82G>A, NP_060181.2:p.Ala155Thr, NP_001164663.1:p.Ala155Thr, NP_001164664.1:p.Ala76Thr, NP_001164662.1:p.Ala76Thr, XP_011529279.1:p.Ala28Thr

Select item 144549854918.

rs1445498549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:70425773 (GRCh38)
X:69645623 (GRCh37)
Canonical SPDI:: NC_000023.11:70425772:C:G,NC_000023.11:70425772:C:T
Gene:: GDPD2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00002/2 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.70425773C>G, NC_000023.11:g.70425773C>T, NC_000023.10:g.69645623C>G, NC_000023.10:g.69645623C>T, NG_016413.1:g.7743C>G, NG_016413.1:g.7743C>T, NM_017711.4:c.220C>G, NM_017711.4:c.220C>T, NM_017711.3:c.220C>G, NM_017711.3:c.220C>T, NM_001171192.2:c.220C>G, NM_001171192.2:c.220C>T, NM_001171192.1:c.220C>G, NM_001171192.1:c.220C>T, NM_001171193.2:c.-18C>G, NM_001171193.2:c.-18C>T, NM_001171193.1:c.-18C>G, NM_001171193.1:c.-18C>T, NM_001171191.2:c.-18C>G, NM_001171191.2:c.-18C>T, NM_001171191.1:c.-18C>G, NM_001171191.1:c.-18C>T, NP_060181.2:p.Arg74Gly, NP_060181.2:p.Arg74Cys, NP_001164663.1:p.Arg74Gly, NP_001164663.1:p.Arg74Cys

Select item 144529365619.

rs1445293656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:70432655 (GRCh38)
X:69652505 (GRCh37)
Canonical SPDI:: NC_000023.11:70432654:T:A
Gene:: GDPD2 (Varview), LOC105373244 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.70432655T>A, NC_000023.10:g.69652505T>A, NG_016413.1:g.14625T>A, NM_017711.4:c.1532T>A, NM_017711.3:c.1532T>A, NM_001171192.2:c.1685T>A, NM_001171192.1:c.1685T>A, NM_001171193.2:c.1295T>A, NM_001171193.1:c.1295T>A, NM_001171191.2:c.1295T>A, NM_001171191.1:c.1295T>A, XM_011530977.2:c.1151T>A, XM_011530977.1:c.1151T>A, NP_060181.2:p.Leu511His, NP_001164663.1:p.Leu562His, NP_001164664.1:p.Leu432His, NP_001164662.1:p.Leu432His, XP_011529279.1:p.Leu384His

Select item 144163384820.

rs1441633848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70425419 (GRCh38)
X:69645269 (GRCh37)
Canonical SPDI:: NC_000023.11:70425418:C:T
Gene:: GDPD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70425419C>T, NC_000023.10:g.69645269C>T, NG_016413.1:g.7389C>T, NM_017711.4:c.171C>T, NM_017711.3:c.171C>T, NM_001171192.2:c.171C>T, NM_001171192.1:c.171C>T, NM_001171193.2:c.-67C>T, NM_001171193.1:c.-67C>T

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