SNP Links for Protein (Select 355477264) - SNP

Select item 14906046211.

rs1490604621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:241137126 (GRCh38)
2:242076541 (GRCh37)
Canonical SPDI:: NC_000002.12:241137125:C:G,NC_000002.12:241137125:C:T
Gene:: PASK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.241137126C>G, NC_000002.12:g.241137126C>T, NC_000002.11:g.242076541C>G, NC_000002.11:g.242076541C>T, NG_052850.1:g.18222G>C, NG_052850.1:g.18222G>A, NM_015148.4:c.1015G>C, NM_015148.4:c.1015G>A, NM_015148.3:c.1015G>C, NM_015148.3:c.1015G>A, NM_001252124.2:c.1015G>C, NM_001252124.2:c.1015G>A, NM_001252124.1:c.1015G>C, NM_001252124.1:c.1015G>A, NM_001252120.2:c.1015G>C, NM_001252120.2:c.1015G>A, NM_001252120.1:c.1015G>C, NM_001252120.1:c.1015G>A, NM_001252119.2:c.1015G>C, NM_001252119.2:c.1015G>A, NM_001252119.1:c.1015G>C, NM_001252119.1:c.1015G>A, NM_001252122.2:c.910G>C, NM_001252122.2:c.910G>A, NM_001252122.1:c.910G>C, NM_001252122.1:c.910G>A, XM_047443735.1:c.1090G>C, XM_047443735.1:c.1090G>A, XM_047443736.1:c.1090G>C, XM_047443736.1:c.1090G>A, NP_055963.2:p.Val339Leu, NP_055963.2:p.Val339Ile, NP_001239053.1:p.Val339Leu, NP_001239053.1:p.Val339Ile, NP_001239049.1:p.Val339Leu, NP_001239049.1:p.Val339Ile, NP_001239048.1:p.Val339Leu, NP_001239048.1:p.Val339Ile, NP_001239051.1:p.Val304Leu, NP_001239051.1:p.Val304Ile, XP_047299691.1:p.Val364Leu, XP_047299691.1:p.Val364Ile, XP_047299692.1:p.Val364Leu, XP_047299692.1:p.Val364Ile

Select item 14898513942.

rs1489851394 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGAT>- [Show Flanks]
Chromosome:: 2:241112274 (GRCh38)
2:242051689 (GRCh37)
Canonical SPDI:: NC_000002.12:241112272:TCGAT:T
Gene:: PASK (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241112274_241112277del, NC_000002.11:g.242051689_242051692del, NG_052850.1:g.43072_43075del, NM_015148.4:c.3497_3500del, NM_015148.3:c.3497_3500del, NM_001252120.2:c.3497_3500del, NM_001252120.1:c.3497_3500del, NM_001252119.2:c.3518_3521del, NM_001252119.1:c.3518_3521del, NM_001252122.2:c.3392_3395del, NM_001252122.1:c.3392_3395del, XM_047443735.1:c.3593_3596del, XM_047443736.1:c.3593_3596del, NP_055963.2:p.Ile1166fs, NP_001239049.1:p.Ile1166fs, NP_001239048.1:p.Ile1173fs, NP_001239051.1:p.Ile1131fs, XP_047299691.1:p.Ile1198fs, XP_047299692.1:p.Ile1198fs

Select item 14890623273.

rs1489062327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241142989 (GRCh38)
2:242082404 (GRCh37)
Canonical SPDI:: NC_000002.12:241142988:C:T
Gene:: PASK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241142989C>T, NC_000002.11:g.242082404C>T, NG_052850.1:g.12359G>A, NM_015148.4:c.44G>A, NM_015148.3:c.44G>A, NM_001252124.2:c.44G>A, NM_001252124.1:c.44G>A, NM_001252120.2:c.44G>A, NM_001252120.1:c.44G>A, NM_001252119.2:c.44G>A, NM_001252119.1:c.44G>A, NM_001252122.2:c.44G>A, NM_001252122.1:c.44G>A, XM_047443735.1:c.119G>A, XM_047443736.1:c.119G>A, NP_055963.2:p.Cys15Tyr, NP_001239053.1:p.Cys15Tyr, NP_001239049.1:p.Cys15Tyr, NP_001239048.1:p.Cys15Tyr, NP_001239051.1:p.Cys15Tyr, XP_047299691.1:p.Cys40Tyr, XP_047299692.1:p.Cys40Tyr

Select item 14884938194.

rs1488493819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241126935 (GRCh38)
2:242066350 (GRCh37)
Canonical SPDI:: NC_000002.12:241126934:G:A
Gene:: PASK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000049/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241126935G>A, NC_000002.11:g.242066350G>A, NG_052850.1:g.28413C>T, NM_015148.4:c.1980C>T, NM_015148.3:c.1980C>T, NM_001252124.2:c.1980C>T, NM_001252124.1:c.1980C>T, NM_001252120.2:c.1980C>T, NM_001252120.1:c.1980C>T, NM_001252119.2:c.1980C>T, NM_001252119.1:c.1980C>T, NM_001252122.2:c.1875C>T, NM_001252122.1:c.1875C>T, XM_011510834.2:c.822C>T, XM_011510834.1:c.822C>T, XM_047443735.1:c.2055C>T, XM_047443736.1:c.2055C>T

Select item 14877671805.

rs1487767180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:241126941 (GRCh38)
2:242066356 (GRCh37)
Canonical SPDI:: NC_000002.12:241126940:C:A
Gene:: PASK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.241126941C>A, NC_000002.11:g.242066356C>A, NG_052850.1:g.28407G>T, NM_015148.4:c.1974G>T, NM_015148.3:c.1974G>T, NM_001252124.2:c.1974G>T, NM_001252124.1:c.1974G>T, NM_001252120.2:c.1974G>T, NM_001252120.1:c.1974G>T, NM_001252119.2:c.1974G>T, NM_001252119.1:c.1974G>T, NM_001252122.2:c.1869G>T, NM_001252122.1:c.1869G>T, XM_011510834.2:c.816G>T, XM_011510834.1:c.816G>T, XM_047443735.1:c.2049G>T, XM_047443736.1:c.2049G>T, NP_055963.2:p.Gln658His, NP_001239053.1:p.Gln658His, NP_001239049.1:p.Gln658His, NP_001239048.1:p.Gln658His, NP_001239051.1:p.Gln623His, XP_011509136.2:p.Gln272His, XP_047299691.1:p.Gln683His, XP_047299692.1:p.Gln683His

Select item 14877058686.

rs1487705868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241126390 (GRCh38)
2:242065805 (GRCh37)
Canonical SPDI:: NC_000002.12:241126389:T:C
Gene:: PASK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241126390T>C, NC_000002.11:g.242065805T>C, NG_052850.1:g.28958A>G, NM_015148.4:c.2525A>G, NM_015148.3:c.2525A>G, NM_001252124.2:c.2525A>G, NM_001252124.1:c.2525A>G, NM_001252120.2:c.2525A>G, NM_001252120.1:c.2525A>G, NM_001252119.2:c.2525A>G, NM_001252119.1:c.2525A>G, NM_001252122.2:c.2420A>G, NM_001252122.1:c.2420A>G, XM_011510834.2:c.1367A>G, XM_011510834.1:c.1367A>G, XM_047443735.1:c.2600A>G, XM_047443736.1:c.2600A>G, NP_055963.2:p.Glu842Gly, NP_001239053.1:p.Glu842Gly, NP_001239049.1:p.Glu842Gly, NP_001239048.1:p.Glu842Gly, NP_001239051.1:p.Glu807Gly, XP_011509136.2:p.Glu456Gly, XP_047299691.1:p.Glu867Gly, XP_047299692.1:p.Glu867Gly

Select item 14874345477.

rs1487434547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:241127138 (GRCh38)
2:242066553 (GRCh37)
Canonical SPDI:: NC_000002.12:241127137:C:G,NC_000002.12:241127137:C:T
Gene:: PASK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.241127138C>G, NC_000002.12:g.241127138C>T, NC_000002.11:g.242066553C>G, NC_000002.11:g.242066553C>T, NG_052850.1:g.28210G>C, NG_052850.1:g.28210G>A, NM_015148.4:c.1777G>C, NM_015148.4:c.1777G>A, NM_015148.3:c.1777G>C, NM_015148.3:c.1777G>A, NM_001252124.2:c.1777G>C, NM_001252124.2:c.1777G>A, NM_001252124.1:c.1777G>C, NM_001252124.1:c.1777G>A, NM_001252120.2:c.1777G>C, NM_001252120.2:c.1777G>A, NM_001252120.1:c.1777G>C, NM_001252120.1:c.1777G>A, NM_001252119.2:c.1777G>C, NM_001252119.2:c.1777G>A, NM_001252119.1:c.1777G>C, NM_001252119.1:c.1777G>A, NM_001252122.2:c.1672G>C, NM_001252122.2:c.1672G>A, NM_001252122.1:c.1672G>C, NM_001252122.1:c.1672G>A, XM_011510834.2:c.619G>C, XM_011510834.2:c.619G>A, XM_011510834.1:c.619G>C, XM_011510834.1:c.619G>A, XM_047443735.1:c.1852G>C, XM_047443735.1:c.1852G>A, XM_047443736.1:c.1852G>C, XM_047443736.1:c.1852G>A, NP_055963.2:p.Ala593Pro, NP_055963.2:p.Ala593Thr, NP_001239053.1:p.Ala593Pro, NP_001239053.1:p.Ala593Thr, NP_001239049.1:p.Ala593Pro, NP_001239049.1:p.Ala593Thr, NP_001239048.1:p.Ala593Pro, NP_001239048.1:p.Ala593Thr, NP_001239051.1:p.Ala558Pro, NP_001239051.1:p.Ala558Thr, XP_011509136.2:p.Ala207Pro, XP_011509136.2:p.Ala207Thr, XP_047299691.1:p.Ala618Pro, XP_047299691.1:p.Ala618Thr, XP_047299692.1:p.Ala618Pro, XP_047299692.1:p.Ala618Thr

Select item 14866260438.

rs1486626043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:241108222 (GRCh38)
2:242047637 (GRCh37)
Canonical SPDI:: NC_000002.12:241108221:A:C,NC_000002.12:241108221:A:G
Gene:: PASK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.241108222A>C, NC_000002.12:g.241108222A>G, NC_000002.11:g.242047637A>C, NC_000002.11:g.242047637A>G, NG_052850.1:g.47126T>G, NG_052850.1:g.47126T>C, NM_015148.4:c.3612T>G, NM_015148.4:c.3612T>C, NM_015148.3:c.3612T>G, NM_015148.3:c.3612T>C, NM_001252120.2:c.3612T>G, NM_001252120.2:c.3612T>C, NM_001252120.1:c.3612T>G, NM_001252120.1:c.3612T>C, NM_001252119.2:c.3633T>G, NM_001252119.2:c.3633T>C, NM_001252119.1:c.3633T>G, NM_001252119.1:c.3633T>C, NM_001252122.2:c.3507T>G, NM_001252122.2:c.3507T>C, NM_001252122.1:c.3507T>G, NM_001252122.1:c.3507T>C, XM_047443735.1:c.*372T>G, XM_047443735.1:c.*372T>C, XM_047443736.1:c.*311T>G, XM_047443736.1:c.*311T>C, NP_055963.2:p.Cys1204Trp, NP_001239049.1:p.Cys1204Trp, NP_001239048.1:p.Cys1211Trp, NP_001239051.1:p.Cys1169Trp

Select item 14861142119.

rs1486114211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:241126213 (GRCh38)
2:242065628 (GRCh37)
Canonical SPDI:: NC_000002.12:241126212:C:A,NC_000002.12:241126212:C:G,NC_000002.12:241126212:C:T
Gene:: PASK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.241126213C>A, NC_000002.12:g.241126213C>G, NC_000002.12:g.241126213C>T, NC_000002.11:g.242065628C>A, NC_000002.11:g.242065628C>G, NC_000002.11:g.242065628C>T, NG_052850.1:g.29135G>T, NG_052850.1:g.29135G>C, NG_052850.1:g.29135G>A, NM_015148.4:c.2702G>T, NM_015148.4:c.2702G>C, NM_015148.4:c.2702G>A, NM_015148.3:c.2702G>T, NM_015148.3:c.2702G>C, NM_015148.3:c.2702G>A, NM_001252124.2:c.2702G>T, NM_001252124.2:c.2702G>C, NM_001252124.2:c.2702G>A, NM_001252124.1:c.2702G>T, NM_001252124.1:c.2702G>C, NM_001252124.1:c.2702G>A, NM_001252120.2:c.2702G>T, NM_001252120.2:c.2702G>C, NM_001252120.2:c.2702G>A, NM_001252120.1:c.2702G>T, NM_001252120.1:c.2702G>C, NM_001252120.1:c.2702G>A, NM_001252119.2:c.2702G>T, NM_001252119.2:c.2702G>C, NM_001252119.2:c.2702G>A, NM_001252119.1:c.2702G>T, NM_001252119.1:c.2702G>C, NM_001252119.1:c.2702G>A, NM_001252122.2:c.2597G>T, NM_001252122.2:c.2597G>C, NM_001252122.2:c.2597G>A, NM_001252122.1:c.2597G>T, NM_001252122.1:c.2597G>C, NM_001252122.1:c.2597G>A, XM_011510834.2:c.1544G>T, XM_011510834.2:c.1544G>C, XM_011510834.2:c.1544G>A, XM_011510834.1:c.1544G>T, XM_011510834.1:c.1544G>C, XM_011510834.1:c.1544G>A, XM_047443735.1:c.2777G>T, XM_047443735.1:c.2777G>C, XM_047443735.1:c.2777G>A, XM_047443736.1:c.2777G>T, XM_047443736.1:c.2777G>C, XM_047443736.1:c.2777G>A, NP_055963.2:p.Arg901Leu, NP_055963.2:p.Arg901Pro, NP_055963.2:p.Arg901Gln, NP_001239053.1:p.Arg901Leu, NP_001239053.1:p.Arg901Pro, NP_001239053.1:p.Arg901Gln, NP_001239049.1:p.Arg901Leu, NP_001239049.1:p.Arg901Pro, NP_001239049.1:p.Arg901Gln, NP_001239048.1:p.Arg901Leu, NP_001239048.1:p.Arg901Pro, NP_001239048.1:p.Arg901Gln, NP_001239051.1:p.Arg866Leu, NP_001239051.1:p.Arg866Pro, NP_001239051.1:p.Arg866Gln, XP_011509136.2:p.Arg515Leu, XP_011509136.2:p.Arg515Pro, XP_011509136.2:p.Arg515Gln, XP_047299691.1:p.Arg926Leu, XP_047299691.1:p.Arg926Pro, XP_047299691.1:p.Arg926Gln, XP_047299692.1:p.Arg926Leu, XP_047299692.1:p.Arg926Pro, XP_047299692.1:p.Arg926Gln

Select item 148552233210.

rs1485522332 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:241122854 (GRCh38)
2:242062269 (GRCh37)
Canonical SPDI:: NC_000002.12:241122853:CC:C
Gene:: PASK (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.241122855del, NC_000002.11:g.242062270del, NG_052850.1:g.32494del, NM_015148.4:c.2950del, NM_015148.3:c.2950del, NM_001252124.2:c.2950del, NM_001252124.1:c.2950del, NM_001252120.2:c.2950del, NM_001252120.1:c.2950del, NM_001252119.2:c.2950del, NM_001252119.1:c.2950del, NM_001252122.2:c.2845del, NM_001252122.1:c.2845del, XM_011510834.2:c.1792del, XM_011510834.1:c.1792del, XM_047443735.1:c.3025del, XM_047443736.1:c.3025del, NP_055963.2:p.Glu984fs, NP_001239053.1:p.Glu984fs, NP_001239049.1:p.Glu984fs, NP_001239048.1:p.Glu984fs, NP_001239051.1:p.Glu949fs, XP_011509136.2:p.Glu598fs, XP_047299691.1:p.Glu1009fs, XP_047299692.1:p.Glu1009fs

Select item 148441356511.

rs1484413565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241126470 (GRCh38)
2:242065885 (GRCh37)
Canonical SPDI:: NC_000002.12:241126469:C:T
Gene:: PASK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241126470C>T, NC_000002.11:g.242065885C>T, NG_052850.1:g.28878G>A, NM_015148.4:c.2445G>A, NM_015148.3:c.2445G>A, NM_001252124.2:c.2445G>A, NM_001252124.1:c.2445G>A, NM_001252120.2:c.2445G>A, NM_001252120.1:c.2445G>A, NM_001252119.2:c.2445G>A, NM_001252119.1:c.2445G>A, NM_001252122.2:c.2340G>A, NM_001252122.1:c.2340G>A, XM_011510834.2:c.1287G>A, XM_011510834.1:c.1287G>A, XM_047443735.1:c.2520G>A, XM_047443736.1:c.2520G>A

Select item 148127380912.

rs1481273809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:241138055 (GRCh38)
2:242077470 (GRCh37)
Canonical SPDI:: NC_000002.12:241138054:A:T
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241138055A>T, NC_000002.11:g.242077470A>T, NG_052850.1:g.17293T>A, NM_015148.4:c.774T>A, NM_015148.3:c.774T>A, NM_001252124.2:c.774T>A, NM_001252124.1:c.774T>A, NM_001252120.2:c.774T>A, NM_001252120.1:c.774T>A, NM_001252119.2:c.774T>A, NM_001252119.1:c.774T>A, XM_047443735.1:c.849T>A, XM_047443736.1:c.849T>A

Select item 148097724913.

rs1480977249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241137066 (GRCh38)
2:242076481 (GRCh37)
Canonical SPDI:: NC_000002.12:241137065:C:T
Gene:: PASK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.241137066C>T, NC_000002.11:g.242076481C>T, NG_052850.1:g.18282G>A, NM_015148.4:c.1075G>A, NM_015148.3:c.1075G>A, NM_001252124.2:c.1075G>A, NM_001252124.1:c.1075G>A, NM_001252120.2:c.1075G>A, NM_001252120.1:c.1075G>A, NM_001252119.2:c.1075G>A, NM_001252119.1:c.1075G>A, NM_001252122.2:c.970G>A, NM_001252122.1:c.970G>A, XM_047443735.1:c.1150G>A, XM_047443736.1:c.1150G>A, NP_055963.2:p.Gly359Ser, NP_001239053.1:p.Gly359Ser, NP_001239049.1:p.Gly359Ser, NP_001239048.1:p.Gly359Ser, NP_001239051.1:p.Gly324Ser, XP_047299691.1:p.Gly384Ser, XP_047299692.1:p.Gly384Ser

Select item 147900759514.

rs1479007595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:241138000 (GRCh38)
2:242077415 (GRCh37)
Canonical SPDI:: NC_000002.12:241137999:G:C
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241138000G>C, NC_000002.11:g.242077415G>C, NG_052850.1:g.17348C>G, NM_015148.4:c.829C>G, NM_015148.3:c.829C>G, NM_001252124.2:c.829C>G, NM_001252124.1:c.829C>G, NM_001252120.2:c.829C>G, NM_001252120.1:c.829C>G, NM_001252119.2:c.829C>G, NM_001252119.1:c.829C>G, XM_047443735.1:c.904C>G, XM_047443736.1:c.904C>G, NP_055963.2:p.Leu277Val, NP_001239053.1:p.Leu277Val, NP_001239049.1:p.Leu277Val, NP_001239048.1:p.Leu277Val, XP_047299691.1:p.Leu302Val, XP_047299692.1:p.Leu302Val

Select item 147801757115.

rs1478017571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:241127183 (GRCh38)
2:242066598 (GRCh37)
Canonical SPDI:: NC_000002.12:241127182:C:G,NC_000002.12:241127182:C:T
Gene:: PASK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241127183C>G, NC_000002.12:g.241127183C>T, NC_000002.11:g.242066598C>G, NC_000002.11:g.242066598C>T, NG_052850.1:g.28165G>C, NG_052850.1:g.28165G>A, NM_015148.4:c.1732G>C, NM_015148.4:c.1732G>A, NM_015148.3:c.1732G>C, NM_015148.3:c.1732G>A, NM_001252124.2:c.1732G>C, NM_001252124.2:c.1732G>A, NM_001252124.1:c.1732G>C, NM_001252124.1:c.1732G>A, NM_001252120.2:c.1732G>C, NM_001252120.2:c.1732G>A, NM_001252120.1:c.1732G>C, NM_001252120.1:c.1732G>A, NM_001252119.2:c.1732G>C, NM_001252119.2:c.1732G>A, NM_001252119.1:c.1732G>C, NM_001252119.1:c.1732G>A, NM_001252122.2:c.1627G>C, NM_001252122.2:c.1627G>A, NM_001252122.1:c.1627G>C, NM_001252122.1:c.1627G>A, XM_011510834.2:c.574G>C, XM_011510834.2:c.574G>A, XM_011510834.1:c.574G>C, XM_011510834.1:c.574G>A, XM_047443735.1:c.1807G>C, XM_047443735.1:c.1807G>A, XM_047443736.1:c.1807G>C, XM_047443736.1:c.1807G>A, NP_055963.2:p.Val578Leu, NP_055963.2:p.Val578Ile, NP_001239053.1:p.Val578Leu, NP_001239053.1:p.Val578Ile, NP_001239049.1:p.Val578Leu, NP_001239049.1:p.Val578Ile, NP_001239048.1:p.Val578Leu, NP_001239048.1:p.Val578Ile, NP_001239051.1:p.Val543Leu, NP_001239051.1:p.Val543Ile, XP_011509136.2:p.Val192Leu, XP_011509136.2:p.Val192Ile, XP_047299691.1:p.Val603Leu, XP_047299691.1:p.Val603Ile, XP_047299692.1:p.Val603Leu, XP_047299692.1:p.Val603Ile

Select item 147780590516.

rs1477805905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:241127126 (GRCh38)
2:242066541 (GRCh37)
Canonical SPDI:: NC_000002.12:241127125:C:A
Gene:: PASK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241127126C>A, NC_000002.11:g.242066541C>A, NG_052850.1:g.28222G>T, NM_015148.4:c.1789G>T, NM_015148.3:c.1789G>T, NM_001252124.2:c.1789G>T, NM_001252124.1:c.1789G>T, NM_001252120.2:c.1789G>T, NM_001252120.1:c.1789G>T, NM_001252119.2:c.1789G>T, NM_001252119.1:c.1789G>T, NM_001252122.2:c.1684G>T, NM_001252122.1:c.1684G>T, XM_011510834.2:c.631G>T, XM_011510834.1:c.631G>T, XM_047443735.1:c.1864G>T, XM_047443736.1:c.1864G>T, NP_055963.2:p.Ala597Ser, NP_001239053.1:p.Ala597Ser, NP_001239049.1:p.Ala597Ser, NP_001239048.1:p.Ala597Ser, NP_001239051.1:p.Ala562Ser, XP_011509136.2:p.Ala211Ser, XP_047299691.1:p.Ala622Ser, XP_047299692.1:p.Ala622Ser

Select item 147767736017.

rs1477677360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:241126879 (GRCh38)
2:242066295 (GRCh37)
Canonical SPDI:: NC_000002.12:241126879:GGGGG:GGGGGG
Gene:: PASK (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241126884dup, NC_000002.11:g.242066299dup, NG_052850.1:g.28468dup, NM_015148.4:c.2035dup, NM_015148.3:c.2035dup, NM_001252124.2:c.2035dup, NM_001252124.1:c.2035dup, NM_001252120.2:c.2035dup, NM_001252120.1:c.2035dup, NM_001252119.2:c.2035dup, NM_001252119.1:c.2035dup, NM_001252122.2:c.1930dup, NM_001252122.1:c.1930dup, XM_011510834.2:c.877dup, XM_011510834.1:c.877dup, XM_047443735.1:c.2110dup, XM_047443736.1:c.2110dup, NP_055963.2:p.His679fs, NP_001239053.1:p.His679fs, NP_001239049.1:p.His679fs, NP_001239048.1:p.His679fs, NP_001239051.1:p.His644fs, XP_011509136.2:p.His293fs, XP_047299691.1:p.His704fs, XP_047299692.1:p.His704fs

Select item 147634601418.

rs1476346014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241122861 (GRCh38)
2:242062276 (GRCh37)
Canonical SPDI:: NC_000002.12:241122860:C:T
Gene:: PASK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241122861C>T, NC_000002.11:g.242062276C>T, NG_052850.1:g.32487G>A, NM_015148.4:c.2943G>A, NM_015148.3:c.2943G>A, NM_001252124.2:c.2943G>A, NM_001252124.1:c.2943G>A, NM_001252120.2:c.2943G>A, NM_001252120.1:c.2943G>A, NM_001252119.2:c.2943G>A, NM_001252119.1:c.2943G>A, NM_001252122.2:c.2838G>A, NM_001252122.1:c.2838G>A, XM_011510834.2:c.1785G>A, XM_011510834.1:c.1785G>A, XM_047443735.1:c.3018G>A, XM_047443736.1:c.3018G>A

Select item 147562431319.

rs1475624313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:241137992 (GRCh38)
2:242077407 (GRCh37)
Canonical SPDI:: NC_000002.12:241137991:A:T
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241137992A>T, NC_000002.11:g.242077407A>T, NG_052850.1:g.17356T>A, NM_015148.4:c.837T>A, NM_015148.3:c.837T>A, NM_001252124.2:c.837T>A, NM_001252124.1:c.837T>A, NM_001252120.2:c.837T>A, NM_001252120.1:c.837T>A, NM_001252119.2:c.837T>A, NM_001252119.1:c.837T>A, XM_047443735.1:c.912T>A, XM_047443736.1:c.912T>A

Select item 147423757220.

rs1474237572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241106609 (GRCh38)
2:242046024 (GRCh37)
Canonical SPDI:: NC_000002.12:241106608:T:C
Gene:: PASK (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241106609T>C, NC_000002.11:g.242046024T>C, NG_052850.1:g.48739A>G, NM_015148.4:c.3929A>G, NM_015148.3:c.3929A>G, NM_001252120.2:c.3929A>G, NM_001252120.1:c.3929A>G, NM_001252119.2:c.3950A>G, NM_001252119.1:c.3950A>G, NM_001252122.2:c.3824A>G, NM_001252122.1:c.3824A>G, NP_055963.2:p.Gln1310Arg, NP_001239049.1:p.Gln1310Arg, NP_001239048.1:p.Gln1317Arg, NP_001239051.1:p.Gln1275Arg

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