SNP Links for Gene (Select 5831) - SNP

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Select item 14908802311.

rs1490880231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81933804 (GRCh38)
17:79891680 (GRCh37)
Canonical SPDI:: NC_000017.11:81933803:G:A
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81933804G>A, NC_000017.10:g.79891680G>A, NG_023032.1:g.8289C>T

Select item 14906160192.

rs1490616019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81939294 (GRCh38)
17:79897170 (GRCh37)
Canonical SPDI:: NC_000017.11:81939293:G:T
Gene:: PYCR1 (Varview), MYADML2 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81939294G>T, NC_000017.10:g.79897170G>T, NG_023032.1:g.2799C>A

Select item 14903650573.

rs1490365057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81935083 (GRCh38)
17:79892959 (GRCh37)
Canonical SPDI:: NC_000017.11:81935082:A:G
Gene:: PYCR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81935083A>G, NC_000017.10:g.79892959A>G, NG_023032.1:g.7010T>C, NM_006907.4:c.383T>C, NM_006907.3:c.383T>C, NM_006907.2:c.383T>C, NM_153824.3:c.383T>C, NM_153824.2:c.383T>C, NM_153824.1:c.383T>C, NM_001282281.2:c.464T>C, NM_001282281.1:c.464T>C, NM_001282280.2:c.383T>C, NM_001282280.1:c.383T>C, NM_001282279.2:c.383T>C, NM_001282279.1:c.383T>C, NM_001330523.2:c.383T>C, NM_001330523.1:c.383T>C, XM_011523584.4:c.383T>C, XM_011523584.3:c.383T>C, XM_011523584.2:c.383T>C, XM_011523584.1:c.383T>C, XM_011523583.3:c.383T>C, XM_011523583.2:c.383T>C, XM_011523583.1:c.383T>C, XM_005256381.3:c.383T>C, XM_005256381.2:c.383T>C, XM_005256381.1:c.383T>C, XM_011523585.3:c.464T>C, XM_011523585.2:c.464T>C, XM_011523585.1:c.464T>C, XM_024450849.2:c.383T>C, XM_024450849.1:c.383T>C, XM_047436498.1:c.383T>C, XM_047436497.1:c.383T>C, NP_008838.2:p.Val128Ala, NP_722546.1:p.Val128Ala, NP_001269210.1:p.Val155Ala, NP_001269209.1:p.Val128Ala, NP_001269208.1:p.Val128Ala, NP_001317452.1:p.Val128Ala, XP_011521886.1:p.Val128Ala, XP_011521885.1:p.Val128Ala, XP_005256438.1:p.Val128Ala, XP_011521887.1:p.Val155Ala, XP_024306617.1:p.Val128Ala, XP_047292454.1:p.Val128Ala, XP_047292453.1:p.Val128Ala

Select item 14896570144.

rs1489657014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81937325 (GRCh38)
17:79895201 (GRCh37)
Canonical SPDI:: NC_000017.11:81937324:A:G
Gene:: PYCR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81937325A>G, NC_000017.10:g.79895201A>G, NG_023032.1:g.4768T>C, NM_001282280.1:c.-111T>C, NM_001282279.1:c.-111T>C, NM_001330523.1:c.-111T>C

Select item 14894213615.

rs1489421361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:81935293 (GRCh38)
17:79893169 (GRCh37)
Canonical SPDI:: NC_000017.11:81935292:T:A
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81935293T>A, NC_000017.10:g.79893169T>A, NG_023032.1:g.6800A>T

Select item 14893329496.

rs1489332949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81937017 (GRCh38)
17:79894893 (GRCh37)
Canonical SPDI:: NC_000017.11:81937016:A:G
Gene:: PYCR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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.81937017A>G, NC_000017.10:g.79894893A>G, NG_023032.1:g.5076T>C, NM_006907.4:c.-203T>C, NM_006907.3:c.-203T>C, NM_006907.2:c.-203T>C, NM_153824.3:c.-203T>C, NM_153824.2:c.-203T>C, NM_153824.1:c.-203T>C, XM_011523583.3:c.-95T>C, XM_011523583.2:c.-95T>C, XM_011523583.1:c.-95T>C

Select item 14892782187.

rs1489278218 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:81936780 (GRCh38)
17:79894656 (GRCh37)
Canonical SPDI:: NC_000017.11:81936779:G:
Gene:: PYCR1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81936780del, NC_000017.10:g.79894656del, NG_023032.1:g.5313del, NM_006907.4:c.35del, NM_006907.3:c.35del, NM_006907.2:c.35del, NM_153824.3:c.35del, NM_153824.2:c.35del, NM_153824.1:c.35del, NM_001282281.2:c.116del, NM_001282281.1:c.116del, NM_001282280.2:c.35del, NM_001282280.1:c.35del, NM_001282279.2:c.35del, NM_001282279.1:c.35del, NM_001330523.2:c.35del, NM_001330523.1:c.35del, XM_011523584.4:c.35del, XM_011523584.3:c.35del, XM_011523584.2:c.35del, XM_011523584.1:c.35del, XM_011523583.3:c.35del, XM_011523583.2:c.35del, XM_011523583.1:c.35del, XM_005256381.3:c.35del, XM_005256381.2:c.35del, XM_005256381.1:c.35del, XM_011523585.3:c.116del, XM_011523585.2:c.116del, XM_011523585.1:c.116del, XM_024450849.2:c.35del, XM_024450849.1:c.35del, XM_047436498.1:c.35del, XM_047436497.1:c.35del, NP_008838.2:p.Ala12fs, NP_722546.1:p.Ala12fs, NP_001269210.1:p.Ala39fs, NP_001269209.1:p.Ala12fs, NP_001269208.1:p.Ala12fs, NP_001317452.1:p.Ala12fs, XP_011521886.1:p.Ala12fs, XP_011521885.1:p.Ala12fs, XP_005256438.1:p.Ala12fs, XP_011521887.1:p.Ala39fs, XP_024306617.1:p.Ala12fs, XP_047292454.1:p.Ala12fs, XP_047292453.1:p.Ala12fs

Select item 14880797828.

rs1488079782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81936923 (GRCh38)
17:79894799 (GRCh37)
Canonical SPDI:: NC_000017.11:81936922:C:A,NC_000017.11:81936922:C:T
Gene:: PYCR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.81936923C>A, NC_000017.11:g.81936923C>T, NC_000017.10:g.79894799C>A, NC_000017.10:g.79894799C>T, NG_023032.1:g.5170G>T, NG_023032.1:g.5170G>A, NM_006907.4:c.-109G>T, NM_006907.4:c.-109G>A, NM_006907.3:c.-109G>T, NM_006907.3:c.-109G>A, NM_006907.2:c.-109G>T, NM_006907.2:c.-109G>A, NM_153824.3:c.-109G>T, NM_153824.3:c.-109G>A, NM_153824.2:c.-109G>T, NM_153824.2:c.-109G>A, NM_153824.1:c.-109G>T, NM_153824.1:c.-109G>A

Select item 14873911929.

rs1487391192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81937032 (GRCh38)
17:79894908 (GRCh37)
Canonical SPDI:: NC_000017.11:81937031:G:C
Gene:: PYCR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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.81937032G>C, NC_000017.10:g.79894908G>C, NG_023032.1:g.5061C>G, NM_006907.4:c.-218C>G, NM_006907.3:c.-218C>G, NM_006907.2:c.-218C>G, NM_153824.3:c.-218C>G, NM_153824.2:c.-218C>G, NM_153824.1:c.-218C>G, XM_011523583.3:c.-110C>G, XM_011523583.2:c.-110C>G, XM_011523583.1:c.-110C>G

Select item 148733133810.

rs1487331338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81936266 (GRCh38)
17:79894142 (GRCh37)
Canonical SPDI:: NC_000017.11:81936265:C:T
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81936266C>T, NC_000017.10:g.79894142C>T, NG_023032.1:g.5827G>A

Select item 148713497111.

rs1487134971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81935557 (GRCh38)
17:79893433 (GRCh37)
Canonical SPDI:: NC_000017.11:81935556:G:A
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81935557G>A, NC_000017.10:g.79893433G>A, NG_023032.1:g.6536C>T

Select item 148660095412.

rs1486600954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:81936496 (GRCh38)
17:79894372 (GRCh37)
Canonical SPDI:: NC_000017.11:81936495:A:C,NC_000017.11:81936495:A:T
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000264/4 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.81936496A>C, NC_000017.11:g.81936496A>T, NC_000017.10:g.79894372A>C, NC_000017.10:g.79894372A>T, NG_023032.1:g.5597T>G, NG_023032.1:g.5597T>A

Select item 148625761813.

rs1486257618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81934950 (GRCh38)
17:79892826 (GRCh37)
Canonical SPDI:: NC_000017.11:81934949:C:T
Gene:: PYCR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81934950C>T, NC_000017.10:g.79892826C>T, NG_023032.1:g.7143G>A, NM_006907.4:c.516G>A, NM_006907.3:c.516G>A, NM_006907.2:c.516G>A, NM_153824.3:c.516G>A, NM_153824.2:c.516G>A, NM_153824.1:c.516G>A, NM_001282281.2:c.597G>A, NM_001282281.1:c.597G>A, NM_001282280.2:c.516G>A, NM_001282280.1:c.516G>A, NM_001282279.2:c.516G>A, NM_001282279.1:c.516G>A, NM_001330523.2:c.516G>A, NM_001330523.1:c.516G>A, XM_011523584.4:c.516G>A, XM_011523584.3:c.516G>A, XM_011523584.2:c.516G>A, XM_011523584.1:c.516G>A, XM_011523583.3:c.516G>A, XM_011523583.2:c.516G>A, XM_011523583.1:c.516G>A, XM_005256381.3:c.516G>A, XM_005256381.2:c.516G>A, XM_005256381.1:c.516G>A, XM_011523585.3:c.597G>A, XM_011523585.2:c.597G>A, XM_011523585.1:c.597G>A, XM_024450849.2:c.516G>A, XM_024450849.1:c.516G>A, XM_047436498.1:c.516G>A, XM_047436497.1:c.516G>A

Select item 148619316814.

rs1486193168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81935208 (GRCh38)
17:79893084 (GRCh37)
Canonical SPDI:: NC_000017.11:81935207:C:T
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81935208C>T, NC_000017.10:g.79893084C>T, NG_023032.1:g.6885G>A

Select item 148613315115.

rs1486133151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81936773 (GRCh38)
17:79894649 (GRCh37)
Canonical SPDI:: NC_000017.11:81936772:G:T
Gene:: PYCR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.81936773G>T, NC_000017.10:g.79894649G>T, NG_023032.1:g.5320C>A, NM_006907.4:c.42C>A, NM_006907.3:c.42C>A, NM_006907.2:c.42C>A, NM_153824.3:c.42C>A, NM_153824.2:c.42C>A, NM_153824.1:c.42C>A, NM_001282281.2:c.123C>A, NM_001282281.1:c.123C>A, NM_001282280.2:c.42C>A, NM_001282280.1:c.42C>A, NM_001282279.2:c.42C>A, NM_001282279.1:c.42C>A, NM_001330523.2:c.42C>A, NM_001330523.1:c.42C>A, XM_011523584.4:c.42C>A, XM_011523584.3:c.42C>A, XM_011523584.2:c.42C>A, XM_011523584.1:c.42C>A, XM_011523583.3:c.42C>A, XM_011523583.2:c.42C>A, XM_011523583.1:c.42C>A, XM_005256381.3:c.42C>A, XM_005256381.2:c.42C>A, XM_005256381.1:c.42C>A, XM_011523585.3:c.123C>A, XM_011523585.2:c.123C>A, XM_011523585.1:c.123C>A, XM_024450849.2:c.42C>A, XM_024450849.1:c.42C>A, XM_047436498.1:c.42C>A, XM_047436497.1:c.42C>A

Select item 148569709416.

rs1485697094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:81935833 (GRCh38)
17:79893709 (GRCh37)
Canonical SPDI:: NC_000017.11:81935832:T:A
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81935833T>A, NC_000017.10:g.79893709T>A, NG_023032.1:g.6260A>T

Select item 148536984317.

rs1485369843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81935410 (GRCh38)
17:79893286 (GRCh37)
Canonical SPDI:: NC_000017.11:81935409:A:G
Gene:: PYCR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81935410A>G, NC_000017.10:g.79893286A>G, NG_023032.1:g.6683T>C, NM_006907.4:c.245T>C, NM_006907.3:c.245T>C, NM_006907.2:c.245T>C, NM_153824.3:c.245T>C, NM_153824.2:c.245T>C, NM_153824.1:c.245T>C, NM_001282281.2:c.326T>C, NM_001282281.1:c.326T>C, NM_001282280.2:c.245T>C, NM_001282280.1:c.245T>C, NM_001282279.2:c.245T>C, NM_001282279.1:c.245T>C, NM_001330523.2:c.245T>C, NM_001330523.1:c.245T>C, XM_011523584.4:c.245T>C, XM_011523584.3:c.245T>C, XM_011523584.2:c.245T>C, XM_011523584.1:c.245T>C, XM_011523583.3:c.245T>C, XM_011523583.2:c.245T>C, XM_011523583.1:c.245T>C, XM_005256381.3:c.245T>C, XM_005256381.2:c.245T>C, XM_005256381.1:c.245T>C, XM_011523585.3:c.326T>C, XM_011523585.2:c.326T>C, XM_011523585.1:c.326T>C, XM_024450849.2:c.245T>C, XM_024450849.1:c.245T>C, XM_047436498.1:c.245T>C, XM_047436497.1:c.245T>C, NP_008838.2:p.Ile82Thr, NP_722546.1:p.Ile82Thr, NP_001269210.1:p.Ile109Thr, NP_001269209.1:p.Ile82Thr, NP_001269208.1:p.Ile82Thr, NP_001317452.1:p.Ile82Thr, XP_011521886.1:p.Ile82Thr, XP_011521885.1:p.Ile82Thr, XP_005256438.1:p.Ile82Thr, XP_011521887.1:p.Ile109Thr, XP_024306617.1:p.Ile82Thr, XP_047292454.1:p.Ile82Thr, XP_047292453.1:p.Ile82Thr

Select item 148511203318.

rs1485112033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81937697 (GRCh38)
17:79895573 (GRCh37)
Canonical SPDI:: NC_000017.11:81937696:T:C
Gene:: PYCR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.81937697T>C, NC_000017.10:g.79895573T>C, NG_023032.1:g.4396A>G

Select item 148510579319.

rs1485105793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81934279 (GRCh38)
17:79892155 (GRCh37)
Canonical SPDI:: NC_000017.11:81934278:C:G,NC_000017.11:81934278:C:T
Gene:: PYCR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00007/1 (TOMMO)
HGVS:: NC_000017.11:g.81934279C>G, NC_000017.11:g.81934279C>T, NC_000017.10:g.79892155C>G, NC_000017.10:g.79892155C>T, NG_023032.1:g.7814G>C, NG_023032.1:g.7814G>A

Select item 148440283520.

rs1484402835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81935492 (GRCh38)
17:79893368 (GRCh37)
Canonical SPDI:: NC_000017.11:81935491:G:A
Gene:: PYCR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81935492G>A, NC_000017.10:g.79893368G>A, NG_023032.1:g.6601C>T, NM_006907.4:c.163C>T, NM_006907.3:c.163C>T, NM_006907.2:c.163C>T, NM_153824.3:c.163C>T, NM_153824.2:c.163C>T, NM_153824.1:c.163C>T, NM_001282281.2:c.244C>T, NM_001282281.1:c.244C>T, NM_001282280.2:c.163C>T, NM_001282280.1:c.163C>T, NM_001282279.2:c.163C>T, NM_001282279.1:c.163C>T, NM_001330523.2:c.163C>T, NM_001330523.1:c.163C>T, XM_011523584.4:c.163C>T, XM_011523584.3:c.163C>T, XM_011523584.2:c.163C>T, XM_011523584.1:c.163C>T, XM_011523583.3:c.163C>T, XM_011523583.2:c.163C>T, XM_011523583.1:c.163C>T, XM_005256381.3:c.163C>T, XM_005256381.2:c.163C>T, XM_005256381.1:c.163C>T, XM_011523585.3:c.244C>T, XM_011523585.2:c.244C>T, XM_011523585.1:c.244C>T, XM_024450849.2:c.163C>T, XM_024450849.1:c.163C>T, XM_047436498.1:c.163C>T, XM_047436497.1:c.163C>T, NP_008838.2:p.His55Tyr, NP_722546.1:p.His55Tyr, NP_001269210.1:p.His82Tyr, NP_001269209.1:p.His55Tyr, NP_001269208.1:p.His55Tyr, NP_001317452.1:p.His55Tyr, XP_011521886.1:p.His55Tyr, XP_011521885.1:p.His55Tyr, XP_005256438.1:p.His55Tyr, XP_011521887.1:p.His82Tyr, XP_024306617.1:p.His55Tyr, XP_047292454.1:p.His55Tyr, XP_047292453.1:p.His55Tyr

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