SNP Links for Protein (Select 1034599946) - SNP

Select item 14841855831.

rs1484185583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2680243 (GRCh38)
17:2583537 (GRCh37)
Canonical SPDI:: NC_000017.11:2680242:C:G
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2680243C>G, NC_000017.10:g.2583537C>G, NG_009799.1:g.91615C>G, NM_000430.4:c.1082C>G, NM_000430.3:c.1082C>G, XM_011523902.4:c.1136C>G, XM_011523902.3:c.1136C>G, XM_011523902.2:c.1136C>G, XM_011523902.1:c.1136C>G, XM_011523901.3:c.1136C>G, XM_011523901.2:c.1136C>G, XM_011523901.1:c.1136C>G, XM_011523903.3:c.1136C>G, XM_011523903.2:c.1136C>G, XM_011523903.1:c.1136C>G, XM_017024701.2:c.1082C>G, XM_017024701.1:c.1082C>G, XM_047436163.1:c.1082C>G, XM_047436162.1:c.1082C>G, XM_047436164.1:c.887C>G, NP_000421.1:p.Thr361Ser, XP_011522204.1:p.Thr379Ser, XP_011522203.1:p.Thr379Ser, XP_011522205.1:p.Thr379Ser, XP_016880190.1:p.Thr361Ser, XP_047292119.1:p.Thr361Ser, XP_047292118.1:p.Thr361Ser, XP_047292120.1:p.Thr296Ser

Select item 14803061612.

rs1480306161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:2680259 (GRCh38)
17:2583553 (GRCh37)
Canonical SPDI:: NC_000017.11:2680258:T:G
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_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_000017.11:g.2680259T>G, NC_000017.10:g.2583553T>G, NG_009799.1:g.91631T>G, NM_000430.4:c.1098T>G, NM_000430.3:c.1098T>G, XM_011523902.4:c.1152T>G, XM_011523902.3:c.1152T>G, XM_011523902.2:c.1152T>G, XM_011523902.1:c.1152T>G, XM_011523901.3:c.1152T>G, XM_011523901.2:c.1152T>G, XM_011523901.1:c.1152T>G, XM_011523903.3:c.1152T>G, XM_011523903.2:c.1152T>G, XM_011523903.1:c.1152T>G, XM_017024701.2:c.1098T>G, XM_017024701.1:c.1098T>G, XM_047436163.1:c.1098T>G, XM_047436162.1:c.1098T>G, XM_047436164.1:c.903T>G, NP_000421.1:p.Asp366Glu, XP_011522204.1:p.Asp384Glu, XP_011522203.1:p.Asp384Glu, XP_011522205.1:p.Asp384Glu, XP_016880190.1:p.Asp366Glu, XP_047292119.1:p.Asp366Glu, XP_047292118.1:p.Asp366Glu, XP_047292120.1:p.Asp301Glu

Select item 14802245693.

rs1480224569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2680207 (GRCh38)
17:2583501 (GRCh37)
Canonical SPDI:: NC_000017.11:2680206:G:A
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.2680207G>A, NC_000017.10:g.2583501G>A, NG_009799.1:g.91579G>A, NM_000430.4:c.1046G>A, NM_000430.3:c.1046G>A, XM_011523902.4:c.1100G>A, XM_011523902.3:c.1100G>A, XM_011523902.2:c.1100G>A, XM_011523902.1:c.1100G>A, XM_011523901.3:c.1100G>A, XM_011523901.2:c.1100G>A, XM_011523901.1:c.1100G>A, XM_011523903.3:c.1100G>A, XM_011523903.2:c.1100G>A, XM_011523903.1:c.1100G>A, XM_017024701.2:c.1046G>A, XM_017024701.1:c.1046G>A, XM_047436163.1:c.1046G>A, XM_047436162.1:c.1046G>A, XM_047436164.1:c.851G>A, NP_000421.1:p.Gly349Glu, XP_011522204.1:p.Gly367Glu, XP_011522203.1:p.Gly367Glu, XP_011522205.1:p.Gly367Glu, XP_016880190.1:p.Gly349Glu, XP_047292119.1:p.Gly349Glu, XP_047292118.1:p.Gly349Glu, XP_047292120.1:p.Gly284Glu

Select item 14783726484.

rs1478372648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2670326 (GRCh38)
17:2573620 (GRCh37)
Canonical SPDI:: NC_000017.11:2670325:T:C
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.2670326T>C, NC_000017.10:g.2573620T>C, NG_009799.1:g.81698T>C, NM_000430.4:c.563T>C, NM_000430.3:c.563T>C, XM_011523902.4:c.617T>C, XM_011523902.3:c.617T>C, XM_011523902.2:c.617T>C, XM_011523902.1:c.617T>C, XM_011523901.3:c.617T>C, XM_011523901.2:c.617T>C, XM_011523901.1:c.617T>C, XM_011523903.3:c.617T>C, XM_011523903.2:c.617T>C, XM_011523903.1:c.617T>C, XM_017024701.2:c.563T>C, XM_017024701.1:c.563T>C, XM_047436163.1:c.563T>C, XM_047436162.1:c.563T>C, XM_047436164.1:c.368T>C, NP_000421.1:p.Met188Thr, XP_011522204.1:p.Met206Thr, XP_011522203.1:p.Met206Thr, XP_011522205.1:p.Met206Thr, XP_016880190.1:p.Met188Thr, XP_047292119.1:p.Met188Thr, XP_047292118.1:p.Met188Thr, XP_047292120.1:p.Met123Thr

Select item 14782977345.

rs1478297734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:2680275 (GRCh38)
17:2583569 (GRCh37)
Canonical SPDI:: NC_000017.11:2680274:T:A
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2680275T>A, NC_000017.10:g.2583569T>A, NG_009799.1:g.91647T>A, NM_000430.4:c.1114T>A, NM_000430.3:c.1114T>A, XM_011523902.4:c.1168T>A, XM_011523902.3:c.1168T>A, XM_011523902.2:c.1168T>A, XM_011523902.1:c.1168T>A, XM_011523901.3:c.1168T>A, XM_011523901.2:c.1168T>A, XM_011523901.1:c.1168T>A, XM_011523903.3:c.1168T>A, XM_011523903.2:c.1168T>A, XM_011523903.1:c.1168T>A, XM_017024701.2:c.1114T>A, XM_017024701.1:c.1114T>A, XM_047436163.1:c.1114T>A, XM_047436162.1:c.1114T>A, XM_047436164.1:c.919T>A, NP_000421.1:p.Cys372Ser, XP_011522204.1:p.Cys390Ser, XP_011522203.1:p.Cys390Ser, XP_011522205.1:p.Cys390Ser, XP_016880190.1:p.Cys372Ser, XP_047292119.1:p.Cys372Ser, XP_047292118.1:p.Cys372Ser, XP_047292120.1:p.Cys307Ser

Select item 14618914766.

rs1461891476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:2670273 (GRCh38)
17:2573567 (GRCh37)
Canonical SPDI:: NC_000017.11:2670272:A:C,NC_000017.11:2670272:A:G
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_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=0.000007/1 (GnomAD)
C=0.000425/7 (TOMMO)
HGVS:: NC_000017.11:g.2670273A>C, NC_000017.11:g.2670273A>G, NC_000017.10:g.2573567A>C, NC_000017.10:g.2573567A>G, NG_009799.1:g.81645A>C, NG_009799.1:g.81645A>G, NM_000430.4:c.510A>C, NM_000430.4:c.510A>G, NM_000430.3:c.510A>C, NM_000430.3:c.510A>G, XM_011523902.4:c.564A>C, XM_011523902.4:c.564A>G, XM_011523902.3:c.564A>C, XM_011523902.3:c.564A>G, XM_011523902.2:c.564A>C, XM_011523902.2:c.564A>G, XM_011523902.1:c.564A>C, XM_011523902.1:c.564A>G, XM_011523901.3:c.564A>C, XM_011523901.3:c.564A>G, XM_011523901.2:c.564A>C, XM_011523901.2:c.564A>G, XM_011523901.1:c.564A>C, XM_011523901.1:c.564A>G, XM_011523903.3:c.564A>C, XM_011523903.3:c.564A>G, XM_011523903.2:c.564A>C, XM_011523903.2:c.564A>G, XM_011523903.1:c.564A>C, XM_011523903.1:c.564A>G, XM_017024701.2:c.510A>C, XM_017024701.2:c.510A>G, XM_017024701.1:c.510A>C, XM_017024701.1:c.510A>G, XM_047436163.1:c.510A>C, XM_047436163.1:c.510A>G, XM_047436162.1:c.510A>C, XM_047436162.1:c.510A>G, XM_047436164.1:c.315A>C, XM_047436164.1:c.315A>G

Select item 14548754717.

rs1454875471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2665455 (GRCh38)
17:2568749 (GRCh37)
Canonical SPDI:: NC_000017.11:2665454:T:C
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2665455T>C, NC_000017.10:g.2568749T>C, NG_009799.1:g.76827T>C, NM_000430.4:c.116T>C, NM_000430.3:c.116T>C, XM_011523902.4:c.170T>C, XM_011523902.3:c.170T>C, XM_011523902.2:c.170T>C, XM_011523902.1:c.170T>C, XM_011523901.3:c.170T>C, XM_011523901.2:c.170T>C, XM_011523901.1:c.170T>C, XM_011523903.3:c.170T>C, XM_011523903.2:c.170T>C, XM_011523903.1:c.170T>C, XM_017024701.2:c.116T>C, XM_017024701.1:c.116T>C, XM_047436163.1:c.116T>C, XM_047436162.1:c.116T>C, NP_000421.1:p.Val39Ala, XP_011522204.1:p.Val57Ala, XP_011522203.1:p.Val57Ala, XP_011522205.1:p.Val57Ala, XP_016880190.1:p.Val39Ala, XP_047292119.1:p.Val39Ala, XP_047292118.1:p.Val39Ala

Select item 14522496678.

rs1452249667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2676602 (GRCh38)
17:2579896 (GRCh37)
Canonical SPDI:: NC_000017.11:2676601:C:T
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2676602C>T, NC_000017.10:g.2579896C>T, NG_009799.1:g.87974C>T, NM_000430.4:c.998C>T, NM_000430.3:c.998C>T, XM_011523902.4:c.1052C>T, XM_011523902.3:c.1052C>T, XM_011523902.2:c.1052C>T, XM_011523902.1:c.1052C>T, XM_011523901.3:c.1052C>T, XM_011523901.2:c.1052C>T, XM_011523901.1:c.1052C>T, XM_011523903.3:c.1052C>T, XM_011523903.2:c.1052C>T, XM_011523903.1:c.1052C>T, XM_017024701.2:c.998C>T, XM_017024701.1:c.998C>T, XM_047436163.1:c.998C>T, XM_047436162.1:c.998C>T, XM_047436164.1:c.803C>T, NP_000421.1:p.Thr333Ile, XP_011522204.1:p.Thr351Ile, XP_011522203.1:p.Thr351Ile, XP_011522205.1:p.Thr351Ile, XP_016880190.1:p.Thr333Ile, XP_047292119.1:p.Thr333Ile, XP_047292118.1:p.Thr333Ile, XP_047292120.1:p.Thr268Ile

Select item 14517842929.

rs1451784292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2676599 (GRCh38)
17:2579893 (GRCh37)
Canonical SPDI:: NC_000017.11:2676598:T:C
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_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=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.2676599T>C, NC_000017.10:g.2579893T>C, NG_009799.1:g.87971T>C, NM_000430.4:c.995T>C, NM_000430.3:c.995T>C, XM_011523902.4:c.1049T>C, XM_011523902.3:c.1049T>C, XM_011523902.2:c.1049T>C, XM_011523902.1:c.1049T>C, XM_011523901.3:c.1049T>C, XM_011523901.2:c.1049T>C, XM_011523901.1:c.1049T>C, XM_011523903.3:c.1049T>C, XM_011523903.2:c.1049T>C, XM_011523903.1:c.1049T>C, XM_017024701.2:c.995T>C, XM_017024701.1:c.995T>C, XM_047436163.1:c.995T>C, XM_047436162.1:c.995T>C, XM_047436164.1:c.800T>C, NP_000421.1:p.Met332Thr, XP_011522204.1:p.Met350Thr, XP_011522203.1:p.Met350Thr, XP_011522205.1:p.Met350Thr, XP_016880190.1:p.Met332Thr, XP_047292119.1:p.Met332Thr, XP_047292118.1:p.Met332Thr, XP_047292120.1:p.Met267Thr

Select item 145157727310.

rs1451577273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2667151 (GRCh38)
17:2570445 (GRCh37)
Canonical SPDI:: NC_000017.11:2667150:C:T
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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.2667151C>T, NC_000017.10:g.2570445C>T, NG_009799.1:g.78523C>T, NM_000430.4:c.352C>T, NM_000430.3:c.352C>T, XM_011523902.4:c.406C>T, XM_011523902.3:c.406C>T, XM_011523902.2:c.406C>T, XM_011523902.1:c.406C>T, XM_011523901.3:c.406C>T, XM_011523901.2:c.406C>T, XM_011523901.1:c.406C>T, XM_011523903.3:c.406C>T, XM_011523903.2:c.406C>T, XM_011523903.1:c.406C>T, XM_017024701.2:c.352C>T, XM_017024701.1:c.352C>T, XM_047436163.1:c.352C>T, XM_047436162.1:c.352C>T, XM_047436164.1:c.157C>T, NP_000421.1:p.Pro118Ser, XP_011522204.1:p.Pro136Ser, XP_011522203.1:p.Pro136Ser, XP_011522205.1:p.Pro136Ser, XP_016880190.1:p.Pro118Ser, XP_047292119.1:p.Pro118Ser, XP_047292118.1:p.Pro118Ser, XP_047292120.1:p.Pro53Ser

Select item 144461716411.

rs1444617164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:2667054 (GRCh38)
17:2570348 (GRCh37)
Canonical SPDI:: NC_000017.11:2667053:T:G
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2667054T>G, NC_000017.10:g.2570348T>G, NG_009799.1:g.78426T>G, NM_000430.4:c.255T>G, NM_000430.3:c.255T>G, XM_011523902.4:c.309T>G, XM_011523902.3:c.309T>G, XM_011523902.2:c.309T>G, XM_011523902.1:c.309T>G, XM_011523901.3:c.309T>G, XM_011523901.2:c.309T>G, XM_011523901.1:c.309T>G, XM_011523903.3:c.309T>G, XM_011523903.2:c.309T>G, XM_011523903.1:c.309T>G, XM_017024701.2:c.255T>G, XM_017024701.1:c.255T>G, XM_047436163.1:c.255T>G, XM_047436162.1:c.255T>G, XM_047436164.1:c.60T>G

Select item 144173215912.

rs1441732159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2676528 (GRCh38)
17:2579822 (GRCh37)
Canonical SPDI:: NC_000017.11:2676527:G:A
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2676528G>A, NC_000017.10:g.2579822G>A, NG_009799.1:g.87900G>A, NM_000430.4:c.924G>A, NM_000430.3:c.924G>A, XM_011523902.4:c.978G>A, XM_011523902.3:c.978G>A, XM_011523902.2:c.978G>A, XM_011523902.1:c.978G>A, XM_011523901.3:c.978G>A, XM_011523901.2:c.978G>A, XM_011523901.1:c.978G>A, XM_011523903.3:c.978G>A, XM_011523903.2:c.978G>A, XM_011523903.1:c.978G>A, XM_017024701.2:c.924G>A, XM_017024701.1:c.924G>A, XM_047436163.1:c.924G>A, XM_047436162.1:c.924G>A, XM_047436164.1:c.729G>A

Select item 143642327113.

rs1436423271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2681785 (GRCh38)
17:2585079 (GRCh37)
Canonical SPDI:: NC_000017.11:2681784:G:A
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2681785G>A, NC_000017.10:g.2585079G>A, NG_009799.1:g.93157G>A, NM_000430.4:c.1216G>A, NM_000430.3:c.1216G>A, XM_011523902.4:c.1270G>A, XM_011523902.3:c.1270G>A, XM_011523902.2:c.1270G>A, XM_011523902.1:c.1270G>A, XM_011523901.3:c.1270G>A, XM_011523901.2:c.1270G>A, XM_011523901.1:c.1270G>A, XM_011523903.3:c.1270G>A, XM_011523903.2:c.1270G>A, XM_011523903.1:c.1270G>A, XM_017024701.2:c.1216G>A, XM_017024701.1:c.1216G>A, XM_047436163.1:c.1216G>A, XM_047436162.1:c.1216G>A, XM_047436164.1:c.1021G>A, NP_000421.1:p.Val406Met, XP_011522204.1:p.Val424Met, XP_011522203.1:p.Val424Met, XP_011522205.1:p.Val424Met, XP_016880190.1:p.Val406Met, XP_047292119.1:p.Val406Met, XP_047292118.1:p.Val406Met, XP_047292120.1:p.Val341Met

Select item 141602741014.

rs1416027410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2670256 (GRCh38)
17:2573550 (GRCh37)
Canonical SPDI:: NC_000017.11:2670255:C:T
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,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.2670256C>T, NC_000017.10:g.2573550C>T, NG_009799.1:g.81628C>T, NM_000430.4:c.493C>T, NM_000430.3:c.493C>T, XM_011523902.4:c.547C>T, XM_011523902.3:c.547C>T, XM_011523902.2:c.547C>T, XM_011523902.1:c.547C>T, XM_011523901.3:c.547C>T, XM_011523901.2:c.547C>T, XM_011523901.1:c.547C>T, XM_011523903.3:c.547C>T, XM_011523903.2:c.547C>T, XM_011523903.1:c.547C>T, XM_017024701.2:c.493C>T, XM_017024701.1:c.493C>T, XM_047436163.1:c.493C>T, XM_047436162.1:c.493C>T, XM_047436164.1:c.298C>T

Select item 141534867515.

rs1415348675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:2667024 (GRCh38)
17:2570318 (GRCh37)
Canonical SPDI:: NC_000017.11:2667023:A:G
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.2667024A>G, NC_000017.10:g.2570318A>G, NG_009799.1:g.78396A>G, NM_000430.4:c.225A>G, NM_000430.3:c.225A>G, XM_011523902.4:c.279A>G, XM_011523902.3:c.279A>G, XM_011523902.2:c.279A>G, XM_011523902.1:c.279A>G, XM_011523901.3:c.279A>G, XM_011523901.2:c.279A>G, XM_011523901.1:c.279A>G, XM_011523903.3:c.279A>G, XM_011523903.2:c.279A>G, XM_011523903.1:c.279A>G, XM_017024701.2:c.225A>G, XM_017024701.1:c.225A>G, XM_047436163.1:c.225A>G, XM_047436162.1:c.225A>G, XM_047436164.1:c.30A>G

Select item 141125440616.

rs1411254406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2680194 (GRCh38)
17:2583488 (GRCh37)
Canonical SPDI:: NC_000017.11:2680193:C:G
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2680194C>G, NC_000017.10:g.2583488C>G, NG_009799.1:g.91566C>G, NM_000430.4:c.1033C>G, NM_000430.3:c.1033C>G, XM_011523902.4:c.1087C>G, XM_011523902.3:c.1087C>G, XM_011523902.2:c.1087C>G, XM_011523902.1:c.1087C>G, XM_011523901.3:c.1087C>G, XM_011523901.2:c.1087C>G, XM_011523901.1:c.1087C>G, XM_011523903.3:c.1087C>G, XM_011523903.2:c.1087C>G, XM_011523903.1:c.1087C>G, XM_017024701.2:c.1033C>G, XM_017024701.1:c.1033C>G, XM_047436163.1:c.1033C>G, XM_047436162.1:c.1033C>G, XM_047436164.1:c.838C>G, NP_000421.1:p.Leu345Val, XP_011522204.1:p.Leu363Val, XP_011522203.1:p.Leu363Val, XP_011522205.1:p.Leu363Val, XP_016880190.1:p.Leu345Val, XP_047292119.1:p.Leu345Val, XP_047292118.1:p.Leu345Val, XP_047292120.1:p.Leu280Val

Select item 141116952017.

rs1411169520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2670259 (GRCh38)
17:2573553 (GRCh37)
Canonical SPDI:: NC_000017.11:2670258:G:A
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2670259G>A, NC_000017.10:g.2573553G>A, NG_009799.1:g.81631G>A, NM_000430.4:c.496G>A, NM_000430.3:c.496G>A, XM_011523902.4:c.550G>A, XM_011523902.3:c.550G>A, XM_011523902.2:c.550G>A, XM_011523902.1:c.550G>A, XM_011523901.3:c.550G>A, XM_011523901.2:c.550G>A, XM_011523901.1:c.550G>A, XM_011523903.3:c.550G>A, XM_011523903.2:c.550G>A, XM_011523903.1:c.550G>A, XM_017024701.2:c.496G>A, XM_017024701.1:c.496G>A, XM_047436163.1:c.496G>A, XM_047436162.1:c.496G>A, XM_047436164.1:c.301G>A, NP_000421.1:p.Ala166Thr, XP_011522204.1:p.Ala184Thr, XP_011522203.1:p.Ala184Thr, XP_011522205.1:p.Ala184Thr, XP_016880190.1:p.Ala166Thr, XP_047292119.1:p.Ala166Thr, XP_047292118.1:p.Ala166Thr, XP_047292120.1:p.Ala101Thr

Select item 140838778318.

rs1408387783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2676590 (GRCh38)
17:2579884 (GRCh37)
Canonical SPDI:: NC_000017.11:2676589:T:C
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000017.11:g.2676590T>C, NC_000017.10:g.2579884T>C, NG_009799.1:g.87962T>C, NM_000430.4:c.986T>C, NM_000430.3:c.986T>C, XM_011523902.4:c.1040T>C, XM_011523902.3:c.1040T>C, XM_011523902.2:c.1040T>C, XM_011523902.1:c.1040T>C, XM_011523901.3:c.1040T>C, XM_011523901.2:c.1040T>C, XM_011523901.1:c.1040T>C, XM_011523903.3:c.1040T>C, XM_011523903.2:c.1040T>C, XM_011523903.1:c.1040T>C, XM_017024701.2:c.986T>C, XM_017024701.1:c.986T>C, XM_047436163.1:c.986T>C, XM_047436162.1:c.986T>C, XM_047436164.1:c.791T>C, NP_000421.1:p.Met329Thr, XP_011522204.1:p.Met347Thr, XP_011522203.1:p.Met347Thr, XP_011522205.1:p.Met347Thr, XP_016880190.1:p.Met329Thr, XP_047292119.1:p.Met329Thr, XP_047292118.1:p.Met329Thr, XP_047292120.1:p.Met264Thr

Select item 140598478519.

rs1405984785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2676584 (GRCh38)
17:2579878 (GRCh37)
Canonical SPDI:: NC_000017.11:2676583:C:T
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2676584C>T, NC_000017.10:g.2579878C>T, NG_009799.1:g.87956C>T, NM_000430.4:c.980C>T, NM_000430.3:c.980C>T, XM_011523902.4:c.1034C>T, XM_011523902.3:c.1034C>T, XM_011523902.2:c.1034C>T, XM_011523902.1:c.1034C>T, XM_011523901.3:c.1034C>T, XM_011523901.2:c.1034C>T, XM_011523901.1:c.1034C>T, XM_011523903.3:c.1034C>T, XM_011523903.2:c.1034C>T, XM_011523903.1:c.1034C>T, XM_017024701.2:c.980C>T, XM_017024701.1:c.980C>T, XM_047436163.1:c.980C>T, XM_047436162.1:c.980C>T, XM_047436164.1:c.785C>T, NP_000421.1:p.Thr327Ile, XP_011522204.1:p.Thr345Ile, XP_011522203.1:p.Thr345Ile, XP_011522205.1:p.Thr345Ile, XP_016880190.1:p.Thr327Ile, XP_047292119.1:p.Thr327Ile, XP_047292118.1:p.Thr327Ile, XP_047292120.1:p.Thr262Ile

Select item 140268934020.

rs1402689340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:2670270 (GRCh38)
17:2573564 (GRCh37)
Canonical SPDI:: NC_000017.11:2670269:T:G
Gene:: PAFAH1B1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2670270T>G, NC_000017.10:g.2573564T>G, NG_009799.1:g.81642T>G, NM_000430.4:c.507T>G, NM_000430.3:c.507T>G, XM_011523902.4:c.561T>G, XM_011523902.3:c.561T>G, XM_011523902.2:c.561T>G, XM_011523902.1:c.561T>G, XM_011523901.3:c.561T>G, XM_011523901.2:c.561T>G, XM_011523901.1:c.561T>G, XM_011523903.3:c.561T>G, XM_011523903.2:c.561T>G, XM_011523903.1:c.561T>G, XM_017024701.2:c.507T>G, XM_017024701.1:c.507T>G, XM_047436163.1:c.507T>G, XM_047436162.1:c.507T>G, XM_047436164.1:c.312T>G

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Result Filters

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Items: 1 to 20 of 330

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