SNP Links for Gene (Select 6464) - SNP

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Select item 14915872661.

rs1491587266 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:154975020 (GRCh38)
1:154947497 (GRCh37)
Canonical SPDI:: NC_000001.11:154975020::T
Gene:: CKS1B (Varview), SHC1 (Varview), MIR4258 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.154975020_154975021insT, NC_000001.10:g.154947496_154947497insT, NG_029028.1:g.4463_4464insA

Select item 14912852962.

rs1491285296 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAG,AAGT [Show Flanks]
Chromosome:: 1:154970479 (GRCh38)
1:154942956 (GRCh37)
Canonical SPDI:: NC_000001.11:154970479::AAG,NC_000001.11:154970479::AAGT
Gene:: SHC1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGT=0./0 (ALFA)
AAG=0.000004/1 (GnomAD_exomes)
AAG=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.154970479_154970480insAAG, NC_000001.11:g.154970479_154970480insAAGT, NC_000001.10:g.154942955_154942956insAAG, NC_000001.10:g.154942955_154942956insAAGT, NG_029028.1:g.9004_9005insCTT, NG_029028.1:g.9004_9005insACTT, NM_183001.5:c.47_48insCTT, NM_183001.5:c.47_48insACTT, NM_183001.4:c.47_48insCTT, NM_183001.4:c.47_48insACTT, NM_001130040.2:c.47_48insCTT, NM_001130040.2:c.47_48insACTT, NM_001130040.1:c.47_48insCTT, NM_001130040.1:c.47_48insACTT, XM_005245449.6:c.47_48insCTT, XM_005245449.6:c.47_48insACTT, XM_005245449.5:c.47_48insCTT, XM_005245449.5:c.47_48insACTT, XM_005245449.4:c.47_48insCTT, XM_005245449.4:c.47_48insACTT, XM_005245449.3:c.47_48insCTT, XM_005245449.3:c.47_48insACTT, XM_005245449.2:c.47_48insCTT, XM_005245449.2:c.47_48insACTT, XM_005245449.1:c.47_48insCTT, XM_005245449.1:c.47_48insACTT, XM_011509892.4:c.47_48insCTT, XM_011509892.4:c.47_48insACTT, XM_011509892.3:c.47_48insCTT, XM_011509892.3:c.47_48insACTT, XM_011509892.2:c.47_48insCTT, XM_011509892.2:c.47_48insACTT, XM_011509892.1:c.47_48insCTT, XM_011509892.1:c.47_48insACTT, XM_011509893.4:c.47_48insCTT, XM_011509893.4:c.47_48insACTT, XM_011509893.3:c.47_48insCTT, XM_011509893.3:c.47_48insACTT, XM_011509893.2:c.47_48insCTT, XM_011509893.2:c.47_48insACTT, XM_011509893.1:c.47_48insCTT, XM_011509893.1:c.47_48insACTT, XM_011509894.4:c.47_48insCTT, XM_011509894.4:c.47_48insACTT, XM_011509894.3:c.47_48insCTT, XM_011509894.3:c.47_48insACTT, XM_011509894.2:c.47_48insCTT, XM_011509894.2:c.47_48insACTT, XM_011509894.1:c.47_48insCTT, XM_011509894.1:c.47_48insACTT, XM_017002081.3:c.47_48insCTT, XM_017002081.3:c.47_48insACTT, XM_017002081.2:c.47_48insCTT, XM_017002081.2:c.47_48insACTT, XM_017002081.1:c.47_48insCTT, XM_017002081.1:c.47_48insACTT, XM_047427958.1:c.47_48insCTT, XM_047427958.1:c.47_48insACTT, XM_047427959.1:c.47_48insCTT, XM_047427959.1:c.47_48insACTT, XM_047427960.1:c.47_48insCTT, XM_047427960.1:c.47_48insACTT, XM_047427961.1:c.47_48insCTT, XM_047427961.1:c.47_48insACTT, XM_047427962.1:c.47_48insCTT, XM_047427962.1:c.47_48insACTT, XM_047427963.1:c.47_48insCTT, XM_047427963.1:c.47_48insACTT, XM_047427964.1:c.47_48insCTT, XM_047427964.1:c.47_48insACTT, NP_892113.4:p.Glu16delinsAspLeu, NP_892113.4:p.Ser17fs, NP_001123512.1:p.Glu16delinsAspLeu, NP_001123512.1:p.Ser17fs, XP_005245506.1:p.Glu16delinsAspLeu, XP_005245506.1:p.Ser17fs, XP_011508194.1:p.Glu16delinsAspLeu, XP_011508194.1:p.Ser17fs, XP_011508195.1:p.Glu16delinsAspLeu, XP_011508195.1:p.Ser17fs, XP_011508196.1:p.Glu16delinsAspLeu, XP_011508196.1:p.Ser17fs, XP_016857570.1:p.Glu16delinsAspLeu, XP_016857570.1:p.Ser17fs, XP_047283914.1:p.Glu16delinsAspLeu, XP_047283914.1:p.Ser17fs, XP_047283915.1:p.Glu16delinsAspLeu, XP_047283915.1:p.Ser17fs, XP_047283916.1:p.Glu16delinsAspLeu, XP_047283916.1:p.Ser17fs, XP_047283917.1:p.Glu16delinsAspLeu, XP_047283917.1:p.Ser17fs, XP_047283918.1:p.Glu16delinsAspLeu, XP_047283918.1:p.Ser17fs, XP_047283919.1:p.Glu16delinsAspLeu, XP_047283919.1:p.Ser17fs, XP_047283920.1:p.Glu16delinsAspLeu, XP_047283920.1:p.Ser17fs

Select item 14912423573.

rs1491242357 has merged into rs56300199 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:154973521 (GRCh38)
1:154945997 (GRCh37)
Canonical SPDI:: NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154973511:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CKS1B (Varview), SHC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.154973521_154973535del, NC_000001.11:g.154973523_154973535del, NC_000001.11:g.154973524_154973535del, NC_000001.11:g.154973525_154973535del, NC_000001.11:g.154973526_154973535del, NC_000001.11:g.154973527_154973535del, NC_000001.11:g.154973528_154973535del, NC_000001.11:g.154973529_154973535del, NC_000001.11:g.154973531_154973535del, NC_000001.11:g.154973532_154973535del, NC_000001.11:g.154973533_154973535del, NC_000001.11:g.154973534_154973535del, NC_000001.11:g.154973535del, NC_000001.11:g.154973535dup, NC_000001.11:g.154973534_154973535dup, NC_000001.11:g.154973533_154973535dup, NC_000001.11:g.154973532_154973535dup, NC_000001.11:g.154973531_154973535dup, NC_000001.11:g.154973529_154973535dup, NC_000001.11:g.154973528_154973535dup, NC_000001.11:g.154973527_154973535dup, NC_000001.11:g.154973524_154973535dup, NC_000001.10:g.154945997_154946011del, NC_000001.10:g.154945999_154946011del, NC_000001.10:g.154946000_154946011del, NC_000001.10:g.154946001_154946011del, NC_000001.10:g.154946002_154946011del, NC_000001.10:g.154946003_154946011del, NC_000001.10:g.154946004_154946011del, NC_000001.10:g.154946005_154946011del, NC_000001.10:g.154946007_154946011del, NC_000001.10:g.154946008_154946011del, NC_000001.10:g.154946009_154946011del, NC_000001.10:g.154946010_154946011del, NC_000001.10:g.154946011del, NC_000001.10:g.154946011dup, NC_000001.10:g.154946010_154946011dup, NC_000001.10:g.154946009_154946011dup, NC_000001.10:g.154946008_154946011dup, NC_000001.10:g.154946007_154946011dup, NC_000001.10:g.154946005_154946011dup, NC_000001.10:g.154946004_154946011dup, NC_000001.10:g.154946003_154946011dup, NC_000001.10:g.154946000_154946011dup, NG_029028.1:g.5958_5972del, NG_029028.1:g.5960_5972del, NG_029028.1:g.5961_5972del, NG_029028.1:g.5962_5972del, NG_029028.1:g.5963_5972del, NG_029028.1:g.5964_5972del, NG_029028.1:g.5965_5972del, NG_029028.1:g.5966_5972del, NG_029028.1:g.5968_5972del, NG_029028.1:g.5969_5972del, NG_029028.1:g.5970_5972del, NG_029028.1:g.5971_5972del, NG_029028.1:g.5972del, NG_029028.1:g.5972dup, NG_029028.1:g.5971_5972dup, NG_029028.1:g.5970_5972dup, NG_029028.1:g.5969_5972dup, NG_029028.1:g.5968_5972dup, NG_029028.1:g.5966_5972dup, NG_029028.1:g.5965_5972dup, NG_029028.1:g.5964_5972dup, NG_029028.1:g.5961_5972dup, XM_047427975.1:c.-237_-223del, XM_047427975.1:c.-235_-223del, XM_047427975.1:c.-234_-223del, XM_047427975.1:c.-233_-223del, XM_047427975.1:c.-232_-223del, XM_047427975.1:c.-231_-223del, XM_047427975.1:c.-230_-223del, XM_047427975.1:c.-229_-223del, XM_047427975.1:c.-227_-223del, XM_047427975.1:c.-226_-223del, XM_047427975.1:c.-225_-223del, XM_047427975.1:c.-224_-223del, XM_047427975.1:c.-223del, XM_047427975.1:c.-223dup, XM_047427975.1:c.-224_-223dup, XM_047427975.1:c.-225_-223dup, XM_047427975.1:c.-226_-223dup, XM_047427975.1:c.-227_-223dup, XM_047427975.1:c.-229_-223dup, XM_047427975.1:c.-230_-223dup, XM_047427975.1:c.-231_-223dup, XM_047427975.1:c.-234_-223dup, XM_047427983.1:c.-237_-223del, XM_047427983.1:c.-235_-223del, XM_047427983.1:c.-234_-223del, XM_047427983.1:c.-233_-223del, XM_047427983.1:c.-232_-223del, XM_047427983.1:c.-231_-223del, XM_047427983.1:c.-230_-223del, XM_047427983.1:c.-229_-223del, XM_047427983.1:c.-227_-223del, XM_047427983.1:c.-226_-223del, XM_047427983.1:c.-225_-223del, XM_047427983.1:c.-224_-223del, XM_047427983.1:c.-223del, XM_047427983.1:c.-223dup, XM_047427983.1:c.-224_-223dup, XM_047427983.1:c.-225_-223dup, XM_047427983.1:c.-226_-223dup, XM_047427983.1:c.-227_-223dup, XM_047427983.1:c.-229_-223dup, XM_047427983.1:c.-230_-223dup, XM_047427983.1:c.-231_-223dup, XM_047427983.1:c.-234_-223dup, XM_047427968.1:c.-237_-223del, XM_047427968.1:c.-235_-223del, XM_047427968.1:c.-234_-223del, XM_047427968.1:c.-233_-223del, XM_047427968.1:c.-232_-223del, XM_047427968.1:c.-231_-223del, XM_047427968.1:c.-230_-223del, XM_047427968.1:c.-229_-223del, XM_047427968.1:c.-227_-223del, XM_047427968.1:c.-226_-223del, XM_047427968.1:c.-225_-223del, XM_047427968.1:c.-224_-223del, XM_047427968.1:c.-223del, XM_047427968.1:c.-223dup, XM_047427968.1:c.-224_-223dup, XM_047427968.1:c.-225_-223dup, XM_047427968.1:c.-226_-223dup, XM_047427968.1:c.-227_-223dup, XM_047427968.1:c.-229_-223dup, XM_047427968.1:c.-230_-223dup, XM_047427968.1:c.-231_-223dup, XM_047427968.1:c.-234_-223dup

Select item 14911746144.

rs1491174614 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:154970480 (GRCh38)
1:154942956 (GRCh37)
Canonical SPDI:: NC_000001.11:154970478:CTC:C
Gene:: SHC1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154970480_154970481del, NC_000001.10:g.154942956_154942957del, NG_029028.1:g.9004_9005del, NM_183001.5:c.47_48del, NM_183001.4:c.47_48del, NM_001130040.2:c.47_48del, NM_001130040.1:c.47_48del, XM_005245449.6:c.47_48del, XM_005245449.5:c.47_48del, XM_005245449.4:c.47_48del, XM_005245449.3:c.47_48del, XM_005245449.2:c.47_48del, XM_005245449.1:c.47_48del, XM_011509892.4:c.47_48del, XM_011509892.3:c.47_48del, XM_011509892.2:c.47_48del, XM_011509892.1:c.47_48del, XM_011509893.4:c.47_48del, XM_011509893.3:c.47_48del, XM_011509893.2:c.47_48del, XM_011509893.1:c.47_48del, XM_011509894.4:c.47_48del, XM_011509894.3:c.47_48del, XM_011509894.2:c.47_48del, XM_011509894.1:c.47_48del, XM_017002081.3:c.47_48del, XM_017002081.2:c.47_48del, XM_017002081.1:c.47_48del, XM_047427958.1:c.47_48del, XM_047427959.1:c.47_48del, XM_047427960.1:c.47_48del, XM_047427961.1:c.47_48del, XM_047427962.1:c.47_48del, XM_047427963.1:c.47_48del, XM_047427964.1:c.47_48del, NP_892113.4:p.Glu16fs, NP_001123512.1:p.Glu16fs, XP_005245506.1:p.Glu16fs, XP_011508194.1:p.Glu16fs, XP_011508195.1:p.Glu16fs, XP_011508196.1:p.Glu16fs, XP_016857570.1:p.Glu16fs, XP_047283914.1:p.Glu16fs, XP_047283915.1:p.Glu16fs, XP_047283916.1:p.Glu16fs, XP_047283917.1:p.Glu16fs, XP_047283918.1:p.Glu16fs, XP_047283919.1:p.Glu16fs, XP_047283920.1:p.Glu16fs

Select item 14911493815.

rs1491149381 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:154973511 (GRCh38)
1:154945987 (GRCh37)
Canonical SPDI:: NC_000001.11:154973510:TA:
Gene:: CKS1B (Varview), SHC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000001.11:g.154973511_154973512del, NC_000001.10:g.154945987_154945988del, NG_029028.1:g.5972_5973del, XM_047427975.1:c.-223_-222del, XM_047427983.1:c.-223_-222del, XM_047427968.1:c.-223_-222del

Select item 14911048476.

rs1491104847 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:154975024 (GRCh38)
1:154947500 (GRCh37)
Canonical SPDI:: NC_000001.11:154975019:AGAGAG:AGAG
Gene:: CKS1B (Varview), SHC1 (Varview), MIR4258 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154975020AG[2], NC_000001.10:g.154947496AG[2], NG_029028.1:g.4459CT[2]

Select item 14909386477.

rs1490938647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:154971677 (GRCh38)
1:154944153 (GRCh37)
Canonical SPDI:: NC_000001.11:154971676:G:T
Gene:: SHC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_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_000001.11:g.154971677G>T, NC_000001.10:g.154944153G>T, NG_029028.1:g.7807C>A, XM_047427958.1:c.-1151C>A, XM_047427959.1:c.-1151C>A

Select item 14904478018.

rs1490447801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154972082 (GRCh38)
1:154944558 (GRCh37)
Canonical SPDI:: NC_000001.11:154972081:T:C
Gene:: SHC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154972082T>C, NC_000001.10:g.154944558T>C, NG_029028.1:g.7402A>G, XM_047427958.1:c.-1556A>G, XM_047427959.1:c.-1556A>G

Select item 14902082269.

rs1490208226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:154974574 (GRCh38)
1:154947050 (GRCh37)
Canonical SPDI:: NC_000001.11:154974573:C:G
Gene:: CKS1B (Varview), SHC1 (Varview), MIR4258 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.154974574C>G, NC_000001.10:g.154947050C>G, NG_029028.1:g.4910G>C

Select item 149016824810.

rs1490168248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154964271 (GRCh38)
1:154936747 (GRCh37)
Canonical SPDI:: NC_000001.11:154964270:C:T
Gene:: SHC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154964271C>T, NC_000001.10:g.154936747C>T, NG_029028.1:g.15213G>A

Select item 149014281311.

rs1490142813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:154970382 (GRCh38)
1:154942858 (GRCh37)
Canonical SPDI:: NC_000001.11:154970381:G:C
Gene:: SHC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154970382G>C, NC_000001.10:g.154942858G>C, NG_029028.1:g.9102C>G, NM_183001.5:c.145C>G, NM_183001.4:c.145C>G, NM_001130040.2:c.145C>G, NM_001130040.1:c.145C>G, XM_005245449.6:c.145C>G, XM_005245449.5:c.145C>G, XM_005245449.4:c.145C>G, XM_005245449.3:c.145C>G, XM_005245449.2:c.145C>G, XM_005245449.1:c.145C>G, XM_011509892.4:c.145C>G, XM_011509892.3:c.145C>G, XM_011509892.2:c.145C>G, XM_011509892.1:c.145C>G, XM_011509893.4:c.145C>G, XM_011509893.3:c.145C>G, XM_011509893.2:c.145C>G, XM_011509893.1:c.145C>G, XM_011509894.4:c.145C>G, XM_011509894.3:c.145C>G, XM_011509894.2:c.145C>G, XM_011509894.1:c.145C>G, XM_017002081.3:c.145C>G, XM_017002081.2:c.145C>G, XM_017002081.1:c.145C>G, XM_047427958.1:c.145C>G, XM_047427959.1:c.145C>G, XM_047427960.1:c.145C>G, XM_047427961.1:c.145C>G, XM_047427962.1:c.145C>G, XM_047427963.1:c.145C>G, XM_047427964.1:c.145C>G, NP_892113.4:p.Leu49Val, NP_001123512.1:p.Leu49Val, XP_005245506.1:p.Leu49Val, XP_011508194.1:p.Leu49Val, XP_011508195.1:p.Leu49Val, XP_011508196.1:p.Leu49Val, XP_016857570.1:p.Leu49Val, XP_047283914.1:p.Leu49Val, XP_047283915.1:p.Leu49Val, XP_047283916.1:p.Leu49Val, XP_047283917.1:p.Leu49Val, XP_047283918.1:p.Leu49Val, XP_047283919.1:p.Leu49Val, XP_047283920.1:p.Leu49Val

Select item 148997459612.

rs1489974596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:154973511 (GRCh38)
1:154945987 (GRCh37)
Canonical SPDI:: NC_000001.11:154973510:T:A
Gene:: CKS1B (Varview), SHC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.154973511T>A, NC_000001.10:g.154945987T>A, NG_029028.1:g.5973A>T, XM_047427975.1:c.-222A>T, XM_047427983.1:c.-222A>T, XM_047427968.1:c.-222A>T

Select item 148983085013.

rs1489830850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154964419 (GRCh38)
1:154936895 (GRCh37)
Canonical SPDI:: NC_000001.11:154964418:C:T
Gene:: SHC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.154964419C>T, NC_000001.10:g.154936895C>T, NG_029028.1:g.15065G>A

Select item 148953009114.

rs1489530091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154962312 (GRCh38)
1:154934788 (GRCh37)
Canonical SPDI:: NC_000001.11:154962311:A:G
Gene:: SHC1 (Varview), PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154962312A>G, NC_000001.10:g.154934788A>G, NG_029028.1:g.17172T>C, NM_183001.5:c.*1491T>C, NM_183001.4:c.*1491T>C, NM_003029.5:c.*1491T>C, NM_003029.4:c.*1491T>C, NM_001130040.2:c.*1491T>C, NM_001130040.1:c.*1491T>C, NM_001202859.2:c.*1491T>C, NM_001202859.1:c.*1491T>C, NM_001130041.2:c.*1491T>C, NM_001130041.1:c.*1491T>C, XM_011509892.4:c.*1491T>C, XM_011509892.3:c.*1491T>C, XM_011509892.2:c.*1491T>C, XM_011509892.1:c.*1491T>C, XM_011509893.4:c.*1491T>C, XM_011509893.3:c.*1491T>C, XM_011509893.2:c.*1491T>C, XM_011509893.1:c.*1491T>C, XM_011509894.4:c.*1491T>C, XM_011509894.3:c.*1491T>C, XM_011509894.2:c.*1491T>C, XM_011509894.1:c.*1491T>C, XM_017002081.3:c.*1491T>C, XM_017002081.2:c.*1491T>C, XM_017002081.1:c.*1491T>C, XM_011509897.2:c.*1491T>C, XM_011509897.1:c.*1491T>C, XM_017002083.2:c.*1491T>C, XM_017002083.1:c.*1491T>C, XM_047427958.1:c.*1491T>C, XM_047427959.1:c.*1491T>C, XM_047427975.1:c.*1491T>C, XM_047427983.1:c.*1491T>C, XM_047427960.1:c.*1491T>C, XM_047427961.1:c.*1491T>C, XM_047427962.1:c.*1491T>C, XM_047427963.1:c.*1491T>C, XM_047427964.1:c.*1491T>C, XM_047427971.1:c.*1491T>C, XM_047427973.1:c.*1491T>C, XM_047427974.1:c.*1491T>C, XM_047427982.1:c.*1491T>C, XM_047427978.1:c.*1491T>C, XM_047427984.1:c.*1491T>C, XM_047427988.1:c.*1491T>C, XM_047427989.1:c.*1491T>C, XM_047427992.1:c.*1491T>C, XM_047427995.1:c.*1491T>C, XM_047427993.1:c.*1491T>C, XM_047427970.1:c.*1491T>C, XM_047427972.1:c.*1491T>C, XM_047427986.1:c.*1491T>C, XM_047427991.1:c.*1491T>C, XM_047427994.1:c.*1491T>C, NM_001321726.1:c.*43A>G, NR_171036.1:n.775A>G

Select item 148936338415.

rs1489363384 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:154970087 (GRCh38)
1:154942563 (GRCh37)
Canonical SPDI:: NC_000001.11:154970086:CCCC:CCC
Gene:: SHC1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154970090del, NC_000001.10:g.154942566del, NG_029028.1:g.9397del, NM_183001.5:c.440del, NM_183001.4:c.440del, NM_003029.5:c.110del, NM_003029.4:c.110del, NM_001130040.2:c.440del, NM_001130040.1:c.440del, NM_001202859.2:c.-26del, NM_001202859.1:c.-26del, NM_001130041.2:c.110del, NM_001130041.1:c.110del, XM_005245449.6:c.440del, XM_005245449.5:c.440del, XM_005245449.4:c.440del, XM_005245449.3:c.440del, XM_005245449.2:c.440del, XM_005245449.1:c.440del, XM_005245451.5:c.110del, XM_005245451.4:c.110del, XM_005245451.3:c.110del, XM_005245451.2:c.110del, XM_005245451.1:c.110del, XM_011509892.4:c.440del, XM_011509892.3:c.440del, XM_011509892.2:c.440del, XM_011509892.1:c.440del, XM_011509893.4:c.440del, XM_011509893.3:c.440del, XM_011509893.2:c.440del, XM_011509893.1:c.440del, XM_011509894.4:c.440del, XM_011509894.3:c.440del, XM_011509894.2:c.440del, XM_011509894.1:c.440del, XM_017002081.3:c.440del, XM_017002081.2:c.440del, XM_017002081.1:c.440del, XM_011509897.2:c.110del, XM_011509897.1:c.110del, XM_017002083.2:c.110del, XM_017002083.1:c.110del, XM_047427958.1:c.440del, XM_047427959.1:c.440del, XM_047427975.1:c.110del, XM_047427983.1:c.110del, XM_047427960.1:c.440del, XM_047427961.1:c.440del, XM_047427962.1:c.440del, XM_047427963.1:c.440del, XM_047427964.1:c.440del, XM_047427971.1:c.110del, XM_047427973.1:c.110del, XM_047427974.1:c.110del, XM_047427982.1:c.110del, XM_047427978.1:c.110del, XM_047427984.1:c.110del, XM_047427988.1:c.110del, XM_047427989.1:c.110del, XM_047427992.1:c.110del, XM_047427995.1:c.110del, XM_047427993.1:c.110del, XM_047427970.1:c.110del, XM_047427972.1:c.110del, XM_047427986.1:c.110del, XM_047427991.1:c.110del, XM_047427994.1:c.110del, XM_047427968.1:c.110del, XM_047427967.1:c.110del, XM_047427969.1:c.110del, NP_892113.4:p.Gly147fs, NP_003020.2:p.Gly37fs, NP_001123512.1:p.Gly147fs, NP_001123513.1:p.Gly37fs, XP_005245506.1:p.Gly147fs, XP_005245508.1:p.Gly37fs, XP_011508194.1:p.Gly147fs, XP_011508195.1:p.Gly147fs, XP_011508196.1:p.Gly147fs, XP_016857570.1:p.Gly147fs, XP_011508199.1:p.Gly37fs, XP_016857572.1:p.Gly37fs, XP_047283914.1:p.Gly147fs, XP_047283915.1:p.Gly147fs, XP_047283931.1:p.Gly37fs, XP_047283939.1:p.Gly37fs, XP_047283916.1:p.Gly147fs, XP_047283917.1:p.Gly147fs, XP_047283918.1:p.Gly147fs, XP_047283919.1:p.Gly147fs, XP_047283920.1:p.Gly147fs, XP_047283927.1:p.Gly37fs, XP_047283929.1:p.Gly37fs, XP_047283930.1:p.Gly37fs, XP_047283938.1:p.Gly37fs, XP_047283934.1:p.Gly37fs, XP_047283940.1:p.Gly37fs, XP_047283944.1:p.Gly37fs, XP_047283945.1:p.Gly37fs, XP_047283948.1:p.Gly37fs, XP_047283951.1:p.Gly37fs, XP_047283949.1:p.Gly37fs, XP_047283926.1:p.Gly37fs, XP_047283928.1:p.Gly37fs, XP_047283942.1:p.Gly37fs, XP_047283947.1:p.Gly37fs, XP_047283950.1:p.Gly37fs, XP_047283924.1:p.Gly37fs, XP_047283923.1:p.Gly37fs, XP_047283925.1:p.Gly37fs

Select item 148873804716.

rs1488738047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154973881 (GRCh38)
1:154946357 (GRCh37)
Canonical SPDI:: NC_000001.11:154973880:G:A
Gene:: CKS1B (Varview), SHC1 (Varview), MIR4258 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.154973881G>A, NC_000001.10:g.154946357G>A, NG_029028.1:g.5603C>T, XM_047427975.1:c.-592C>T, XM_047427983.1:c.-592C>T, XM_047427978.1:c.-51C>T, XM_047427984.1:c.-51C>T, XM_047427993.1:c.-51C>T, XM_047427968.1:c.-592C>T, XM_047427969.1:c.-51C>T

Select item 148866384117.

rs1488663841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:154969817 (GRCh38)
1:154942293 (GRCh37)
Canonical SPDI:: NC_000001.11:154969816:G:T
Gene:: SHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154969817G>T, NC_000001.10:g.154942293G>T, NG_029028.1:g.9667C>A

Select item 148856715918.

rs1488567159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:154967151 (GRCh38)
1:154939627 (GRCh37)
Canonical SPDI:: NC_000001.11:154967150:C:A,NC_000001.11:154967150:C:G,NC_000001.11:154967150:C:T
Gene:: SHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000052/6 (GnomAD)
HGVS:: NC_000001.11:g.154967151C>A, NC_000001.11:g.154967151C>G, NC_000001.11:g.154967151C>T, NC_000001.10:g.154939627C>A, NC_000001.10:g.154939627C>G, NC_000001.10:g.154939627C>T, NG_029028.1:g.12333G>T, NG_029028.1:g.12333G>C, NG_029028.1:g.12333G>A

Select item 148856259419.

rs1488562594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154962628 (GRCh38)
1:154935104 (GRCh37)
Canonical SPDI:: NC_000001.11:154962627:T:C
Gene:: SHC1 (Varview), PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_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.154962628T>C, NC_000001.10:g.154935104T>C, NG_029028.1:g.16856A>G, NM_183001.5:c.*1175A>G, NM_183001.4:c.*1175A>G, NM_003029.5:c.*1175A>G, NM_003029.4:c.*1175A>G, NM_001130040.2:c.*1175A>G, NM_001130040.1:c.*1175A>G, NM_001202859.2:c.*1175A>G, NM_001202859.1:c.*1175A>G, NM_001130041.2:c.*1175A>G, NM_001130041.1:c.*1175A>G, XM_011509892.4:c.*1175A>G, XM_011509892.3:c.*1175A>G, XM_011509892.2:c.*1175A>G, XM_011509892.1:c.*1175A>G, XM_011509893.4:c.*1175A>G, XM_011509893.3:c.*1175A>G, XM_011509893.2:c.*1175A>G, XM_011509893.1:c.*1175A>G, XM_011509894.4:c.*1175A>G, XM_011509894.3:c.*1175A>G, XM_011509894.2:c.*1175A>G, XM_011509894.1:c.*1175A>G, XM_017002081.3:c.*1175A>G, XM_017002081.2:c.*1175A>G, XM_017002081.1:c.*1175A>G, XM_011509897.2:c.*1175A>G, XM_011509897.1:c.*1175A>G, XM_017002083.2:c.*1175A>G, XM_017002083.1:c.*1175A>G, XM_047427958.1:c.*1175A>G, XM_047427959.1:c.*1175A>G, XM_047427975.1:c.*1175A>G, XM_047427983.1:c.*1175A>G, XM_047427960.1:c.*1175A>G, XM_047427961.1:c.*1175A>G, XM_047427962.1:c.*1175A>G, XM_047427963.1:c.*1175A>G, XM_047427964.1:c.*1175A>G, XM_047427971.1:c.*1175A>G, XM_047427973.1:c.*1175A>G, XM_047427974.1:c.*1175A>G, XM_047427982.1:c.*1175A>G, XM_047427978.1:c.*1175A>G, XM_047427984.1:c.*1175A>G, XM_047427988.1:c.*1175A>G, XM_047427989.1:c.*1175A>G, XM_047427992.1:c.*1175A>G, XM_047427995.1:c.*1175A>G, XM_047427993.1:c.*1175A>G, XM_047427970.1:c.*1175A>G, XM_047427972.1:c.*1175A>G, XM_047427986.1:c.*1175A>G, XM_047427991.1:c.*1175A>G, XM_047427994.1:c.*1175A>G

Select item 148853383320.

rs1488533833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:154961953 (GRCh38)
1:154934429 (GRCh37)
Canonical SPDI:: NC_000001.11:154961952:G:A,NC_000001.11:154961952:G:T
Gene:: SHC1 (Varview), PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.154961953G>A, NC_000001.11:g.154961953G>T, NC_000001.10:g.154934429G>A, NC_000001.10:g.154934429G>T, NG_029028.1:g.17531C>T, NG_029028.1:g.17531C>A, NM_001321726.1:c.341G>A, NM_001321726.1:c.341G>T, NR_171036.1:n.416G>A, NR_171036.1:n.416G>T

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