SNP Links for Protein (Select 260763880) - SNP

Links from Protein

Items: 1 to 20 of 229

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Select item 14838836071.

rs1483883607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59272880 (GRCh38)
17:57350241 (GRCh37)
Canonical SPDI:: NC_000017.11:59272879:C:T
Gene:: GDPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59272880C>T, NC_000017.10:g.57350241C>T, NM_001165994.2:c.866C>T, NM_001165994.1:c.866C>T, NP_001159466.1:p.Pro289Leu

Select item 14808503932.

rs1480850393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:59267096 (GRCh38)
17:57344457 (GRCh37)
Canonical SPDI:: NC_000017.11:59267095:T:C,NC_000017.11:59267095:T:G
Gene:: GDPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.59267096T>C, NC_000017.11:g.59267096T>G, NC_000017.10:g.57344457T>C, NC_000017.10:g.57344457T>G, NM_182569.4:c.632T>C, NM_182569.4:c.632T>G, NM_182569.3:c.632T>C, NM_182569.3:c.632T>G, XM_017024521.2:c.353T>C, XM_017024521.2:c.353T>G, XM_017024521.1:c.353T>C, XM_017024521.1:c.353T>G, NM_001165993.2:c.632T>C, NM_001165993.2:c.632T>G, NM_001165993.1:c.632T>C, NM_001165993.1:c.632T>G, NM_001165994.2:c.632T>C, NM_001165994.2:c.632T>G, NM_001165994.1:c.632T>C, NM_001165994.1:c.632T>G, NP_872375.2:p.Leu211Pro, NP_872375.2:p.Leu211Arg, XP_016880010.1:p.Leu118Pro, XP_016880010.1:p.Leu118Arg, NP_001159465.1:p.Leu211Pro, NP_001159465.1:p.Leu211Arg, NP_001159466.1:p.Leu211Pro, NP_001159466.1:p.Leu211Arg

Select item 14741500503.

rs1474150050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59257137 (GRCh38)
17:57334498 (GRCh37)
Canonical SPDI:: NC_000017.11:59257136:G:A
Gene:: GDPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59257137G>A, NC_000017.10:g.57334498G>A, NM_182569.4:c.383G>A, NM_182569.3:c.383G>A, XM_017024521.2:c.104G>A, XM_017024521.1:c.104G>A, NM_001165993.2:c.383G>A, NM_001165993.1:c.383G>A, NM_001165994.2:c.383G>A, NM_001165994.1:c.383G>A, NP_872375.2:p.Gly128Glu, XP_016880010.1:p.Gly35Glu, NP_001159465.1:p.Gly128Glu, NP_001159466.1:p.Gly128Glu

Select item 14694264054.

rs1469426405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:59257778 (GRCh38)
17:57335139 (GRCh37)
Canonical SPDI:: NC_000017.11:59257777:C:G,NC_000017.11:59257777:C:T
Gene:: GDPD1 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59257778C>G, NC_000017.11:g.59257778C>T, NC_000017.10:g.57335139C>G, NC_000017.10:g.57335139C>T, NM_182569.4:c.514C>G, NM_182569.4:c.514C>T, NM_182569.3:c.514C>G, NM_182569.3:c.514C>T, XM_017024521.2:c.235C>G, XM_017024521.2:c.235C>T, XM_017024521.1:c.235C>G, XM_017024521.1:c.235C>T, NM_001165993.2:c.514C>G, NM_001165993.2:c.514C>T, NM_001165993.1:c.514C>G, NM_001165993.1:c.514C>T, NM_001165994.2:c.514C>G, NM_001165994.2:c.514C>T, NM_001165994.1:c.514C>G, NM_001165994.1:c.514C>T, NP_872375.2:p.Arg172Gly, NP_872375.2:p.Arg172Ter, XP_016880010.1:p.Arg79Gly, XP_016880010.1:p.Arg79Ter, NP_001159465.1:p.Arg172Gly, NP_001159465.1:p.Arg172Ter, NP_001159466.1:p.Arg172Gly, NP_001159466.1:p.Arg172Ter

Select item 14672823615.

rs1467282361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59267155 (GRCh38)
17:57344516 (GRCh37)
Canonical SPDI:: NC_000017.11:59267154:A:G
Gene:: GDPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59267155A>G, NC_000017.10:g.57344516A>G, NM_182569.4:c.691A>G, NM_182569.3:c.691A>G, XM_017024521.2:c.412A>G, XM_017024521.1:c.412A>G, NM_001165993.2:c.691A>G, NM_001165993.1:c.691A>G, NM_001165994.2:c.691A>G, NM_001165994.1:c.691A>G, NP_872375.2:p.Met231Val, XP_016880010.1:p.Met138Val, NP_001159465.1:p.Met231Val, NP_001159466.1:p.Met231Val

Select item 14574546806.

rs1457454680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:59257146 (GRCh38)
17:57334507 (GRCh37)
Canonical SPDI:: NC_000017.11:59257145:A:C,NC_000017.11:59257145:A:T
Gene:: GDPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.59257146A>C, NC_000017.11:g.59257146A>T, NC_000017.10:g.57334507A>C, NC_000017.10:g.57334507A>T, NM_182569.4:c.392A>C, NM_182569.4:c.392A>T, NM_182569.3:c.392A>C, NM_182569.3:c.392A>T, XM_017024521.2:c.113A>C, XM_017024521.2:c.113A>T, XM_017024521.1:c.113A>C, XM_017024521.1:c.113A>T, NM_001165993.2:c.392A>C, NM_001165993.2:c.392A>T, NM_001165993.1:c.392A>C, NM_001165993.1:c.392A>T, NM_001165994.2:c.392A>C, NM_001165994.2:c.392A>T, NM_001165994.1:c.392A>C, NM_001165994.1:c.392A>T, NP_872375.2:p.Asn131Thr, NP_872375.2:p.Asn131Ile, XP_016880010.1:p.Asn38Thr, XP_016880010.1:p.Asn38Ile, NP_001159465.1:p.Asn131Thr, NP_001159465.1:p.Asn131Ile, NP_001159466.1:p.Asn131Thr, NP_001159466.1:p.Asn131Ile

Select item 14561122267.

rs1456112226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59257787 (GRCh38)
17:57335148 (GRCh37)
Canonical SPDI:: NC_000017.11:59257786:T:C
Gene:: GDPD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.59257787T>C, NC_000017.10:g.57335148T>C, NM_182569.4:c.523T>C, NM_182569.3:c.523T>C, XM_017024521.2:c.244T>C, XM_017024521.1:c.244T>C, NM_001165993.2:c.523T>C, NM_001165993.1:c.523T>C, NM_001165994.2:c.523T>C, NM_001165994.1:c.523T>C

Select item 14547353458.

rs1454735345 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:59245541 (GRCh38)
17:57322902 (GRCh37)
Canonical SPDI:: NC_000017.11:59245540:AAA:AA
Gene:: GDPD1 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59245543del, NC_000017.10:g.57322904del, NM_182569.4:c.315del, NM_182569.3:c.315del, NM_001165993.2:c.315del, NM_001165993.1:c.315del, NM_001165994.2:c.315del, NM_001165994.1:c.315del, NP_872375.2:p.Lys105fs, NP_001159465.1:p.Lys105fs, NP_001159466.1:p.Lys105fs

Select item 14535158699.

rs1453515869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:59220737 (GRCh38)
17:57298098 (GRCh37)
Canonical SPDI:: NC_000017.11:59220736:T:A
Gene:: GDPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59220737T>A, NC_000017.10:g.57298098T>A, NM_182569.4:c.128T>A, NM_182569.3:c.128T>A, NM_001165993.2:c.128T>A, NM_001165993.1:c.128T>A, NM_001165994.2:c.128T>A, NM_001165994.1:c.128T>A, NP_872375.2:p.Ile43Asn, NP_001159465.1:p.Ile43Asn, NP_001159466.1:p.Ile43Asn

Select item 145148438410.

rs1451484384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59270993 (GRCh38)
17:57348354 (GRCh37)
Canonical SPDI:: NC_000017.11:59270992:T:C
Gene:: GDPD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.59270993T>C, NC_000017.10:g.57348354T>C, NM_182569.4:c.768T>C, NM_182569.3:c.768T>C, XM_017024521.2:c.489T>C, XM_017024521.1:c.489T>C, NM_001165993.2:c.768T>C, NM_001165993.1:c.768T>C, NM_001165994.2:c.768T>C, NM_001165994.1:c.768T>C

Select item 144531992111.

rs1445319921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:59220634 (GRCh38)
17:57297995 (GRCh37)
Canonical SPDI:: NC_000017.11:59220633:C:G
Gene:: GDPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59220634C>G, NC_000017.10:g.57297995C>G, NM_182569.4:c.25C>G, NM_182569.3:c.25C>G, NM_001165993.2:c.25C>G, NM_001165993.1:c.25C>G, NM_001165994.2:c.25C>G, NM_001165994.1:c.25C>G, NP_872375.2:p.Leu9Val, NP_001159465.1:p.Leu9Val, NP_001159466.1:p.Leu9Val

Select item 144446598712.

rs1444465987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:59234494 (GRCh38)
17:57311855 (GRCh37)
Canonical SPDI:: NC_000017.11:59234493:G:T
Gene:: GDPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59234494G>T, NC_000017.10:g.57311855G>T, NM_182569.4:c.145G>T, NM_182569.3:c.145G>T, NM_001165993.2:c.145G>T, NM_001165993.1:c.145G>T, NM_001165994.2:c.145G>T, NM_001165994.1:c.145G>T, NP_872375.2:p.Ala49Ser, NP_001159465.1:p.Ala49Ser, NP_001159466.1:p.Ala49Ser

Select item 143874385513.

rs1438743855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59220747 (GRCh38)
17:57298108 (GRCh37)
Canonical SPDI:: NC_000017.11:59220746:C:T
Gene:: GDPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59220747C>T, NC_000017.10:g.57298108C>T, NM_182569.4:c.138C>T, NM_182569.3:c.138C>T, NM_001165993.2:c.138C>T, NM_001165993.1:c.138C>T, NM_001165994.2:c.138C>T, NM_001165994.1:c.138C>T

Select item 143824056814.

rs1438240568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59272816 (GRCh38)
17:57350177 (GRCh37)
Canonical SPDI:: NC_000017.11:59272815:C:T
Gene:: GDPD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59272816C>T, NC_000017.10:g.57350177C>T, NM_182569.4:c.802C>T, NM_182569.3:c.802C>T, XM_017024521.2:c.523C>T, XM_017024521.1:c.523C>T, NM_001165994.2:c.802C>T, NM_001165994.1:c.802C>T

Select item 143254343915.

rs1432543439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:59245488 (GRCh38)
17:57322849 (GRCh37)
Canonical SPDI:: NC_000017.11:59245487:A:G,NC_000017.11:59245487:A:T
Gene:: GDPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59245488A>G, NC_000017.11:g.59245488A>T, NC_000017.10:g.57322849A>G, NC_000017.10:g.57322849A>T, NM_182569.4:c.260A>G, NM_182569.4:c.260A>T, NM_182569.3:c.260A>G, NM_182569.3:c.260A>T, NM_001165993.2:c.260A>G, NM_001165993.2:c.260A>T, NM_001165993.1:c.260A>G, NM_001165993.1:c.260A>T, NM_001165994.2:c.260A>G, NM_001165994.2:c.260A>T, NM_001165994.1:c.260A>G, NM_001165994.1:c.260A>T, NP_872375.2:p.His87Arg, NP_872375.2:p.His87Leu, NP_001159465.1:p.His87Arg, NP_001159465.1:p.His87Leu, NP_001159466.1:p.His87Arg, NP_001159466.1:p.His87Leu

Select item 142642044516.

rs1426420445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:59220640 (GRCh38)
17:57298001 (GRCh37)
Canonical SPDI:: NC_000017.11:59220639:T:G
Gene:: GDPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59220640T>G, NC_000017.10:g.57298001T>G, NM_182569.4:c.31T>G, NM_182569.3:c.31T>G, NM_001165993.2:c.31T>G, NM_001165993.1:c.31T>G, NM_001165994.2:c.31T>G, NM_001165994.1:c.31T>G, NP_872375.2:p.Ser11Ala, NP_001159465.1:p.Ser11Ala, NP_001159466.1:p.Ser11Ala

Select item 142568323517.

rs1425683235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59272874 (GRCh38)
17:57350235 (GRCh37)
Canonical SPDI:: NC_000017.11:59272873:G:A
Gene:: GDPD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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.59272874G>A, NC_000017.10:g.57350235G>A, NM_001165994.2:c.860G>A, NM_001165994.1:c.860G>A, NP_001159466.1:p.Ser287Asn

Select item 142154299318.

rs1421542993 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:59267140 (GRCh38)
17:57344501 (GRCh37)
Canonical SPDI:: NC_000017.11:59267139:TTTTTT:TTTTT
Gene:: GDPD1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.59267145del, NC_000017.10:g.57344506del, NM_182569.4:c.681del, NM_182569.3:c.681del, XM_017024521.2:c.402del, XM_017024521.1:c.402del, NM_001165993.2:c.681del, NM_001165993.1:c.681del, NM_001165994.2:c.681del, NM_001165994.1:c.681del, NP_872375.2:p.Phe227fs, XP_016880010.1:p.Phe134fs, NP_001159465.1:p.Phe227fs, NP_001159466.1:p.Phe227fs

Select item 141999557519.

rs1419995575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:59257798 (GRCh38)
17:57335159 (GRCh37)
Canonical SPDI:: NC_000017.11:59257797:G:T
Gene:: GDPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59257798G>T, NC_000017.10:g.57335159G>T, NM_182569.4:c.534G>T, NM_182569.3:c.534G>T, XM_017024521.2:c.255G>T, XM_017024521.1:c.255G>T, NM_001165993.2:c.534G>T, NM_001165993.1:c.534G>T, NM_001165994.2:c.534G>T, NM_001165994.1:c.534G>T, NP_872375.2:p.Trp178Cys, XP_016880010.1:p.Trp85Cys, NP_001159465.1:p.Trp178Cys, NP_001159466.1:p.Trp178Cys

Select item 140842074720.

rs1408420747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59272856 (GRCh38)
17:57350217 (GRCh37)
Canonical SPDI:: NC_000017.11:59272855:C:T
Gene:: GDPD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59272856C>T, NC_000017.10:g.57350217C>T, NM_001165994.2:c.842C>T, NM_001165994.1:c.842C>T, NP_001159466.1:p.Ala281Val

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