SNP Links for Gene (Select 84176) - SNP

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Select item 14915672411.

rs1491567241 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:99277878 (GRCh38)
7:98875501 (GRCh37)
Canonical SPDI:: NC_000007.14:99277877:CG:
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.99277878_99277879del, NC_000007.13:g.98875501_98875502del

Select item 14915612212.

rs1491561221 has merged into rs1159682450 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:99294510 (GRCh38)
7:98892133 (GRCh37)
Canonical SPDI:: NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99294500:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000091/24 (TOPMED)
HGVS:: NC_000007.14:g.99294510_99294524del, NC_000007.14:g.99294512_99294524del, NC_000007.14:g.99294513_99294524del, NC_000007.14:g.99294514_99294524del, NC_000007.14:g.99294515_99294524del, NC_000007.14:g.99294516_99294524del, NC_000007.14:g.99294517_99294524del, NC_000007.14:g.99294518_99294524del, NC_000007.14:g.99294519_99294524del, NC_000007.14:g.99294520_99294524del, NC_000007.14:g.99294521_99294524del, NC_000007.14:g.99294522_99294524del, NC_000007.14:g.99294523_99294524del, NC_000007.14:g.99294524del, NC_000007.14:g.99294524dup, NC_000007.14:g.99294523_99294524dup, NC_000007.14:g.99294522_99294524dup, NC_000007.14:g.99294521_99294524dup, NC_000007.14:g.99294520_99294524dup, NC_000007.14:g.99294519_99294524dup, NC_000007.14:g.99294518_99294524dup, NC_000007.14:g.99294517_99294524dup, NC_000007.14:g.99294516_99294524dup, NC_000007.14:g.99294515_99294524dup, NC_000007.14:g.99294514_99294524dup, NC_000007.14:g.99294513_99294524dup, NC_000007.14:g.99294512_99294524dup, NC_000007.14:g.99294511_99294524dup, NC_000007.14:g.99294507_99294524dup, NC_000007.14:g.99294506_99294524dup, NC_000007.14:g.99294505_99294524dup, NC_000007.14:g.99294504_99294524dup, NC_000007.14:g.99294524_99294525insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.99294524_99294525insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.99294524_99294525insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.99294524_99294525insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.99294501_99294524A[44]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.99294501_99294524A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.98892133_98892147del, NC_000007.13:g.98892135_98892147del, NC_000007.13:g.98892136_98892147del, NC_000007.13:g.98892137_98892147del, NC_000007.13:g.98892138_98892147del, NC_000007.13:g.98892139_98892147del, NC_000007.13:g.98892140_98892147del, NC_000007.13:g.98892141_98892147del, NC_000007.13:g.98892142_98892147del, NC_000007.13:g.98892143_98892147del, NC_000007.13:g.98892144_98892147del, NC_000007.13:g.98892145_98892147del, NC_000007.13:g.98892146_98892147del, NC_000007.13:g.98892147del, NC_000007.13:g.98892147dup, NC_000007.13:g.98892146_98892147dup, NC_000007.13:g.98892145_98892147dup, NC_000007.13:g.98892144_98892147dup, NC_000007.13:g.98892143_98892147dup, NC_000007.13:g.98892142_98892147dup, NC_000007.13:g.98892141_98892147dup, NC_000007.13:g.98892140_98892147dup, NC_000007.13:g.98892139_98892147dup, NC_000007.13:g.98892138_98892147dup, NC_000007.13:g.98892137_98892147dup, NC_000007.13:g.98892136_98892147dup, NC_000007.13:g.98892135_98892147dup, NC_000007.13:g.98892134_98892147dup, NC_000007.13:g.98892130_98892147dup, NC_000007.13:g.98892129_98892147dup, NC_000007.13:g.98892128_98892147dup, NC_000007.13:g.98892127_98892147dup, NC_000007.13:g.98892147_98892148insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.98892147_98892148insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.98892147_98892148insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.98892147_98892148insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.98892124_98892147A[44]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.98892124_98892147A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914246693.

rs1491424669 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,ATGT [Show Flanks]
Chromosome:: 7:99277878 (GRCh38)
7:98875502 (GRCh37)
Canonical SPDI:: NC_000007.14:99277878::AT,NC_000007.14:99277878::ATGT
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATGT=0./0 (ALFA)
AT=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.99277878_99277879insAT, NC_000007.14:g.99277878_99277879insATGT, NC_000007.13:g.98875501_98875502insAT, NC_000007.13:g.98875501_98875502insATGT

Select item 14913798404.

rs1491379840 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 7:99295835 (GRCh38)
7:98893458 (GRCh37)
Canonical SPDI:: NC_000007.14:99295834:GG:
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.99295835_99295836del, NC_000007.13:g.98893458_98893459del

Select item 14912758565.

rs1491275856 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:99294501 (GRCh38)
7:98892125 (GRCh37)
Canonical SPDI:: NC_000007.14:99294501::G
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.99294501_99294502insG, NC_000007.13:g.98892124_98892125insG

Select item 14911067546.

rs1491106754 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 7:99295835 (GRCh38)
7:98893459 (GRCh37)
Canonical SPDI:: NC_000007.14:99295835::A,NC_000007.14:99295835::T
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.99295835_99295836insA, NC_000007.14:g.99295835_99295836insT, NC_000007.13:g.98893458_98893459insA, NC_000007.13:g.98893458_98893459insT

Select item 14909987837.

rs1490998783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99282250 (GRCh38)
7:98879873 (GRCh37)
Canonical SPDI:: NC_000007.14:99282249:T:C
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.99282250T>C, NC_000007.13:g.98879873T>C

Select item 14909423928.

rs1490942392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99283356 (GRCh38)
7:98880979 (GRCh37)
Canonical SPDI:: NC_000007.14:99283355:C:T
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.99283356C>T, NC_000007.13:g.98880979C>T

Select item 14907388179.

rs1490738817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99290943 (GRCh38)
7:98888566 (GRCh37)
Canonical SPDI:: NC_000007.14:99290942:A:G
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000007.14:g.99290943A>G, NC_000007.13:g.98888566A>G, XR_927797.4:n.537T>C, XR_927797.3:n.586T>C, XR_927797.2:n.558T>C, XR_927797.1:n.528T>C, XR_927798.3:n.537T>C, XR_927798.2:n.558T>C, XR_927798.1:n.528T>C, XR_007060449.1:n.537T>C, XR_007060450.1:n.453T>C

Select item 149071510810.

rs1490715108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99280178 (GRCh38)
7:98877801 (GRCh37)
Canonical SPDI:: NC_000007.14:99280177:G:A
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.99280178G>A, NC_000007.13:g.98877801G>A

Select item 149052919411.

rs1490529194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99288299 (GRCh38)
7:98885922 (GRCh37)
Canonical SPDI:: NC_000007.14:99288298:G:T
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.99288299G>T, NC_000007.13:g.98885922G>T

Select item 149050146812.

rs1490501468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:99292377 (GRCh38)
7:98890000 (GRCh37)
Canonical SPDI:: NC_000007.14:99292376:G:C
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99292377G>C, NC_000007.13:g.98890000G>C, NR_002147.3:n.3867G>C, NR_002147.2:n.1569G>C

Select item 149037041313.

rs1490370413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99296947 (GRCh38)
7:98894570 (GRCh37)
Canonical SPDI:: NC_000007.14:99296946:G:A
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.99296947G>A, NC_000007.13:g.98894570G>A

Select item 149032742614.

rs1490327426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99290976 (GRCh38)
7:98888599 (GRCh37)
Canonical SPDI:: NC_000007.14:99290975:T:C
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99290976T>C, NC_000007.13:g.98888599T>C, XR_927797.4:n.504A>G, XR_927797.3:n.553A>G, XR_927797.2:n.525A>G, XR_927797.1:n.495A>G, XR_927798.3:n.504A>G, XR_927798.2:n.525A>G, XR_927798.1:n.495A>G, XR_007060449.1:n.504A>G, XR_007060450.1:n.420A>G

Select item 149013186915.

rs1490131869 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGTACAAT>- [Show Flanks]
Chromosome:: 7:99285094 (GRCh38)
7:98882717 (GRCh37)
Canonical SPDI:: NC_000007.14:99285090:AATCCGTACAAT:AAT
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99285094_99285102del, NC_000007.13:g.98882717_98882725del

Select item 149013183216.

rs1490131832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99297394 (GRCh38)
7:98895017 (GRCh37)
Canonical SPDI:: NC_000007.14:99297393:C:T
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99297394C>T, NC_000007.13:g.98895017C>T

Select item 148968016217.

rs1489680162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99284514 (GRCh38)
7:98882137 (GRCh37)
Canonical SPDI:: NC_000007.14:99284513:A:G
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: genic_downstream_transcript_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_000007.14:g.99284514A>G, NC_000007.13:g.98882137A>G

Select item 148947943418.

rs1489479434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99273687 (GRCh38)
7:98871310 (GRCh37)
Canonical SPDI:: NC_000007.14:99273686:A:G
Gene:: MYH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99273687A>G, NC_000007.13:g.98871310A>G

Select item 148941255919.

rs1489412559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99289465 (GRCh38)
7:98887088 (GRCh37)
Canonical SPDI:: NC_000007.14:99289464:C:T
Gene:: MYH16 (Varview), LOC105375421 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_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_000007.14:g.99289465C>T, NC_000007.13:g.98887088C>T

Select item 148938944420.

rs1489389444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99274444 (GRCh38)
7:98872067 (GRCh37)
Canonical SPDI:: NC_000007.14:99274443:A:G
Gene:: MYH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.99274444A>G, NC_000007.13:g.98872067A>G

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