SNP Links for Gene (Select 343263) - SNP

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Select item 14909668251.

rs1490966825 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:109293900 (GRCh38)
1:109836522 (GRCh37)
Canonical SPDI:: NC_000001.11:109293899:C:
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109293900del, NC_000001.10:g.109836522del, NG_032757.1:g.18142del

Select item 14909417982.

rs1490941798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109308418 (GRCh38)
1:109851040 (GRCh37)
Canonical SPDI:: NC_000001.11:109308417:A:G
Gene:: MYBPHL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.109308418A>G, NC_000001.10:g.109851040A>G, NG_028280.1:g.94524T>C, NG_032757.1:g.3624T>C

Select item 14909232763.

rs1490923276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:109309255 (GRCh38)
1:109851877 (GRCh37)
Canonical SPDI:: NC_000001.11:109309254:C:G
Gene:: SORT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000001.11:g.109309255C>G, NC_000001.10:g.109851877C>G, NG_028280.1:g.93687G>C, NG_032757.1:g.2787G>C

Select item 14907521114.

rs1490752111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109300666 (GRCh38)
1:109843288 (GRCh37)
Canonical SPDI:: NC_000001.11:109300665:G:A
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109300666G>A, NC_000001.10:g.109843288G>A, NG_032757.1:g.11376C>T

Select item 14905160905.

rs1490516090 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:109301184 (GRCh38)
1:109843807 (GRCh37)
Canonical SPDI:: NC_000001.11:109301184:A:AA
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109301185dup, NC_000001.10:g.109843807dup, NG_032757.1:g.10857dup

Select item 14902181896.

rs1490218189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109306855 (GRCh38)
1:109849477 (GRCh37)
Canonical SPDI:: NC_000001.11:109306854:G:A
Gene:: MYBPHL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000001.11:g.109306855G>A, NC_000001.10:g.109849477G>A, NG_032757.1:g.5187C>T, NM_001010985.3:c.137C>T, NM_001010985.2:c.137C>T, NM_001265613.2:c.137C>T, NM_001265613.1:c.137C>T, XM_017001174.2:c.137C>T, XM_017001174.1:c.137C>T, XM_017001173.2:c.137C>T, XM_017001173.1:c.137C>T, XM_017001175.2:c.137C>T, XM_017001175.1:c.137C>T, NP_001010985.2:p.Pro46Leu, NP_001252542.1:p.Pro46Leu, XP_016856663.1:p.Pro46Leu, XP_016856662.1:p.Pro46Leu, XP_016856664.1:p.Pro46Leu

Select item 14901303547.

rs1490130354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:109310747 (GRCh38)
1:109853369 (GRCh37)
Canonical SPDI:: NC_000001.11:109310746:A:C,NC_000001.11:109310746:A:G
Gene:: SORT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109310747A>C, NC_000001.11:g.109310747A>G, NC_000001.10:g.109853369A>C, NC_000001.10:g.109853369A>G, NG_028280.1:g.92195T>G, NG_028280.1:g.92195T>C, NM_002959.7:c.*3296T>G, NM_002959.7:c.*3296T>C, NM_002959.6:c.*3296T>G, NM_002959.6:c.*3296T>C, NM_002959.5:c.*3296T>G, NM_002959.5:c.*3296T>C, NM_001205228.2:c.*3296T>G, NM_001205228.2:c.*3296T>C, NM_001205228.1:c.*3296T>G, NM_001205228.1:c.*3296T>C, NG_032757.1:g.1295T>G, NG_032757.1:g.1295T>C, XM_005271101.4:c.*3296T>G, XM_005271101.4:c.*3296T>C, XM_005271101.3:c.*3296T>G, XM_005271101.3:c.*3296T>C, XM_005271101.2:c.*3296T>G, XM_005271101.2:c.*3296T>C, XM_005271101.1:c.*3296T>G, XM_005271101.1:c.*3296T>C, XM_005271100.3:c.*3296T>G, XM_005271100.3:c.*3296T>C, XM_005271100.2:c.*3296T>G, XM_005271100.2:c.*3296T>C, XM_005271100.1:c.*3296T>G, XM_005271100.1:c.*3296T>C

Select item 14901238688.

rs1490123868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:109307965 (GRCh38)
1:109850587 (GRCh37)
Canonical SPDI:: NC_000001.11:109307964:A:C,NC_000001.11:109307964:A:G
Gene:: MYBPHL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109307965A>C, NC_000001.11:g.109307965A>G, NC_000001.10:g.109850587A>C, NC_000001.10:g.109850587A>G, NG_028280.1:g.94977T>G, NG_028280.1:g.94977T>C, NG_032757.1:g.4077T>G, NG_032757.1:g.4077T>C

Select item 14900722419.

rs1490072241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109308924 (GRCh38)
1:109851546 (GRCh37)
Canonical SPDI:: NC_000001.11:109308923:C:T
Gene:: MYBPHL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.109308924C>T, NC_000001.10:g.109851546C>T, NG_028280.1:g.94018G>A, NG_032757.1:g.3118G>A

Select item 148998399810.

rs1489983998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109306431 (GRCh38)
1:109849053 (GRCh37)
Canonical SPDI:: NC_000001.11:109306430:C:T
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109306431C>T, NC_000001.10:g.109849053C>T, NG_032757.1:g.5611G>A

Select item 148973386911.

rs1489733869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109299728 (GRCh38)
1:109842350 (GRCh37)
Canonical SPDI:: NC_000001.11:109299727:G:C
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.109299728G>C, NC_000001.10:g.109842350G>C, NG_032757.1:g.12314C>G

Select item 148969916512.

rs1489699165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109294849 (GRCh38)
1:109837471 (GRCh37)
Canonical SPDI:: NC_000001.11:109294848:T:C
Gene:: MYBPHL (Varview)
Functional Consequence:: 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_000001.11:g.109294849T>C, NC_000001.10:g.109837471T>C, NG_032757.1:g.17193A>G

Select item 148963010313.

rs1489630103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:109293537 (GRCh38)
1:109836159 (GRCh37)
Canonical SPDI:: NC_000001.11:109293536:A:T
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000895/4 (ALFA)
T=0.000022/3 (GnomAD)
T=0.00067/3 (Estonian)
T=0.005476/16 (KOREAN)
HGVS:: NC_000001.11:g.109293537A>T, NC_000001.10:g.109836159A>T, NG_032757.1:g.18505T>A

Select item 148958043414.

rs1489580434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109306515 (GRCh38)
1:109849137 (GRCh37)
Canonical SPDI:: NC_000001.11:109306514:C:T
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109306515C>T, NC_000001.10:g.109849137C>T, NG_032757.1:g.5527G>A

Select item 148950687215.

rs1489506872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:109296882 (GRCh38)
1:109839504 (GRCh37)
Canonical SPDI:: NC_000001.11:109296881:T:A,NC_000001.11:109296881:T:C
Gene:: MYBPHL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000024/6 (GnomAD_exomes)
C=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.109296882T>A, NC_000001.11:g.109296882T>C, NC_000001.10:g.109839504T>A, NC_000001.10:g.109839504T>C, NG_032757.1:g.15160A>T, NG_032757.1:g.15160A>G, NM_001010985.3:c.631A>T, NM_001010985.3:c.631A>G, NM_001010985.2:c.631A>T, NM_001010985.2:c.631A>G, NM_001265613.2:c.562A>T, NM_001265613.2:c.562A>G, NM_001265613.1:c.562A>T, NM_001265613.1:c.562A>G, XM_017001174.2:c.631A>T, XM_017001174.2:c.631A>G, XM_017001174.1:c.631A>T, XM_017001174.1:c.631A>G, XM_017001173.2:c.631A>T, XM_017001173.2:c.631A>G, XM_017001173.1:c.631A>T, XM_017001173.1:c.631A>G, XM_017001175.2:c.562A>T, XM_017001175.2:c.562A>G, XM_017001175.1:c.562A>T, XM_017001175.1:c.562A>G, NP_001010985.2:p.Ile211Phe, NP_001010985.2:p.Ile211Val, NP_001252542.1:p.Ile188Phe, NP_001252542.1:p.Ile188Val, XP_016856663.1:p.Ile211Phe, XP_016856663.1:p.Ile211Val, XP_016856662.1:p.Ile211Phe, XP_016856662.1:p.Ile211Val, XP_016856664.1:p.Ile188Phe, XP_016856664.1:p.Ile188Val

Select item 148943988016.

rs1489439880 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:109298636 (GRCh38)
1:109841258 (GRCh37)
Canonical SPDI:: NC_000001.11:109298635:T:A
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_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_000001.11:g.109298636T>A, NC_000001.10:g.109841258T>A, NG_032757.1:g.13406A>T

Select item 148918048817.

rs1489180488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109302635 (GRCh38)
1:109845257 (GRCh37)
Canonical SPDI:: NC_000001.11:109302634:G:A
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.109302635G>A, NC_000001.10:g.109845257G>A, NG_032757.1:g.9407C>T

Select item 148908378318.

rs1489083783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109310879 (GRCh38)
1:109853501 (GRCh37)
Canonical SPDI:: NC_000001.11:109310878:A:G
Gene:: SORT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109310879A>G, NC_000001.10:g.109853501A>G, NG_028280.1:g.92063T>C, NM_002959.7:c.*3164T>C, NM_002959.6:c.*3164T>C, NM_002959.5:c.*3164T>C, NM_001205228.2:c.*3164T>C, NM_001205228.1:c.*3164T>C, NG_032757.1:g.1163T>C, XM_005271101.4:c.*3164T>C, XM_005271101.3:c.*3164T>C, XM_005271101.2:c.*3164T>C, XM_005271101.1:c.*3164T>C, XM_005271100.3:c.*3164T>C, XM_005271100.2:c.*3164T>C, XM_005271100.1:c.*3164T>C

Select item 148889013419.

rs1488890134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:109296458 (GRCh38)
1:109839080 (GRCh37)
Canonical SPDI:: NC_000001.11:109296457:A:T
Gene:: MYBPHL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0016/7 (ALFA)
HGVS:: NC_000001.11:g.109296458A>T, NC_000001.10:g.109839080A>T, NG_032757.1:g.15584T>A

Select item 148885371920.

rs1488853719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109309330 (GRCh38)
1:109851952 (GRCh37)
Canonical SPDI:: NC_000001.11:109309329:C:T
Gene:: SORT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.109309330C>T, NC_000001.10:g.109851952C>T, NG_028280.1:g.93612G>A, NG_032757.1:g.2712G>A