SNP Links for Gene (Select 1991) - SNP

Links from Gene

Items: 1 to 20 of 2447

<< First< Prev

Page of 123

Next >Last >>

Select item 14913883841.

rs1491388384 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:856724 (GRCh38)
19:856724 (GRCh37)
Canonical SPDI:: NC_000019.10:856723:CA:
Gene:: ELANE (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000019.10:g.856724_856725del, NC_000019.9:g.856724_856725del, NG_007274.1:g.2060_2061del, NG_009627.1:g.9434_9435del, NT_187622.1:g.35633dup, NT_187622.1:g.35610del

Select item 14913454512.

rs1491345451 has merged into rs56141611 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:856736 (GRCh38)
19:856736 (GRCh37)
Canonical SPDI:: NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:856724:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ELANE (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAA=0.0535/268 (1000Genomes)
HGVS:: NC_000019.10:g.856736_856748del, NC_000019.10:g.856737_856748del, NC_000019.10:g.856738_856748del, NC_000019.10:g.856739_856748del, NC_000019.10:g.856740_856748del, NC_000019.10:g.856741_856748del, NC_000019.10:g.856742_856748del, NC_000019.10:g.856743_856748del, NC_000019.10:g.856744_856748del, NC_000019.10:g.856745_856748del, NC_000019.10:g.856746_856748del, NC_000019.10:g.856747_856748del, NC_000019.10:g.856748del, NC_000019.10:g.856748dup, NC_000019.10:g.856747_856748dup, NC_000019.10:g.856746_856748dup, NC_000019.10:g.856745_856748dup, NC_000019.10:g.856744_856748dup, NC_000019.10:g.856743_856748dup, NC_000019.10:g.856741_856748dup, NC_000019.10:g.856737_856748dup, NC_000019.9:g.856736_856748del, NC_000019.9:g.856737_856748del, NC_000019.9:g.856738_856748del, NC_000019.9:g.856739_856748del, NC_000019.9:g.856740_856748del, NC_000019.9:g.856741_856748del, NC_000019.9:g.856742_856748del, NC_000019.9:g.856743_856748del, NC_000019.9:g.856744_856748del, NC_000019.9:g.856745_856748del, NC_000019.9:g.856746_856748del, NC_000019.9:g.856747_856748del, NC_000019.9:g.856748del, NC_000019.9:g.856748dup, NC_000019.9:g.856747_856748dup, NC_000019.9:g.856746_856748dup, NC_000019.9:g.856745_856748dup, NC_000019.9:g.856744_856748dup, NC_000019.9:g.856743_856748dup, NC_000019.9:g.856741_856748dup, NC_000019.9:g.856737_856748dup, NG_007274.1:g.2072_2084del, NG_007274.1:g.2073_2084del, NG_007274.1:g.2074_2084del, NG_007274.1:g.2075_2084del, NG_007274.1:g.2076_2084del, NG_007274.1:g.2077_2084del, NG_007274.1:g.2078_2084del, NG_007274.1:g.2079_2084del, NG_007274.1:g.2080_2084del, NG_007274.1:g.2081_2084del, NG_007274.1:g.2082_2084del, NG_007274.1:g.2083_2084del, NG_007274.1:g.2084del, NG_007274.1:g.2084dup, NG_007274.1:g.2083_2084dup, NG_007274.1:g.2082_2084dup, NG_007274.1:g.2081_2084dup, NG_007274.1:g.2080_2084dup, NG_007274.1:g.2079_2084dup, NG_007274.1:g.2077_2084dup, NG_007274.1:g.2073_2084dup, NG_009627.1:g.9446_9458del, NG_009627.1:g.9447_9458del, NG_009627.1:g.9448_9458del, NG_009627.1:g.9449_9458del, NG_009627.1:g.9450_9458del, NG_009627.1:g.9451_9458del, NG_009627.1:g.9452_9458del, NG_009627.1:g.9453_9458del, NG_009627.1:g.9454_9458del, NG_009627.1:g.9455_9458del, NG_009627.1:g.9456_9458del, NG_009627.1:g.9457_9458del, NG_009627.1:g.9458del, NG_009627.1:g.9458dup, NG_009627.1:g.9457_9458dup, NG_009627.1:g.9456_9458dup, NG_009627.1:g.9455_9458dup, NG_009627.1:g.9454_9458dup, NG_009627.1:g.9453_9458dup, NG_009627.1:g.9451_9458dup, NG_009627.1:g.9447_9458dup, NT_187622.1:g.35633dup, NT_187622.1:g.35622_35633del, NT_187622.1:g.35623_35633del, NT_187622.1:g.35624_35633del, NT_187622.1:g.35625_35633del, NT_187622.1:g.35626_35633del, NT_187622.1:g.35627_35633del, NT_187622.1:g.35628_35633del, NT_187622.1:g.35629_35633del, NT_187622.1:g.35630_35633del, NT_187622.1:g.35631_35633del, NT_187622.1:g.35632_35633del, NT_187622.1:g.35633del, NT_187622.1:g.35632_35633dup, NT_187622.1:g.35631_35633dup, NT_187622.1:g.35630_35633dup, NT_187622.1:g.35629_35633dup, NT_187622.1:g.35628_35633dup, NT_187622.1:g.35627_35633dup, NT_187622.1:g.35625_35633dup, NT_187622.1:g.35621_35633dup

Select item 14913271013.

rs1491327101 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 19:852595 (GRCh38)
19:852596 (GRCh37)
Canonical SPDI:: NC_000019.10:852595::A,NC_000019.10:852595::C
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000018/1 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.852595_852596insA, NC_000019.10:g.852595_852596insC, NC_000019.9:g.852595_852596insA, NC_000019.9:g.852595_852596insC, NG_009627.1:g.5305_5306insA, NG_009627.1:g.5305_5306insC, NT_187622.1:g.31482_31483insA, NT_187622.1:g.31482_31483insC

Select item 14908502014.

rs1490850201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:855953 (GRCh38)
19:855953 (GRCh37)
Canonical SPDI:: NC_000019.10:855952:C:T
Gene:: ELANE (Varview)
Functional Consequence:: intron_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_000019.10:g.855953C>T, NC_000019.9:g.855953C>T, NG_007274.1:g.1289C>T, NG_009627.1:g.8663C>T, NT_187622.1:g.34839C>T

Select item 14906063305.

rs1490606330 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGATTG [Show Flanks]
Chromosome:: 19:854379 (GRCh38)
19:854380 (GRCh37)
Canonical SPDI:: NC_000019.10:854379:GGAGATTG:GGAGATTGGAGATTG
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGAGATTGGAGATTG=0./0 (ALFA)
GGAGATT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.854381_854387dup, NC_000019.9:g.854381_854387dup, NG_009627.1:g.7091_7097dup, NT_187622.1:g.33267_33273dup

Select item 14899202256.

rs1489920225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:849215 (GRCh38)
19:849215 (GRCh37)
Canonical SPDI:: NC_000019.10:849214:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.849215G>C, NC_000019.9:g.849215G>C, NG_009627.1:g.1925G>C, NT_187622.1:g.28059G>C

Select item 14898385087.

rs1489838508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:852384 (GRCh38)
19:852384 (GRCh37)
Canonical SPDI:: NC_000019.10:852383:T:G
Gene:: ELANE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.852384T>G, NC_000019.9:g.852384T>G, NG_009627.1:g.5094T>G, NM_001972.4:c.56T>G, NM_001972.3:c.56T>G, NM_001972.2:c.56T>G, NT_187622.1:g.31271T>G, NP_001963.1:p.Leu19Trp

Select item 14890407098.

rs1489040709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:855032 (GRCh38)
19:855032 (GRCh37)
Canonical SPDI:: NC_000019.10:855031:G:A,NC_000019.10:855031:G:T
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.855032G>A, NC_000019.10:g.855032G>T, NC_000019.9:g.855032G>A, NC_000019.9:g.855032G>T, NG_007274.1:g.368G>A, NG_007274.1:g.368G>T, NG_009627.1:g.7742G>A, NG_009627.1:g.7742G>T, NT_187622.1:g.33918G>A, NT_187622.1:g.33918G>T

Select item 14886129899.

rs1488612989 has merged into rs55748688 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:849699 (GRCh38)
19:849699 (GRCh37)
Canonical SPDI:: NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:849688:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.849699_849717del, NC_000019.10:g.849701_849717del, NC_000019.10:g.849702_849717del, NC_000019.10:g.849703_849717del, NC_000019.10:g.849704_849717del, NC_000019.10:g.849705_849717del, NC_000019.10:g.849706_849717del, NC_000019.10:g.849707_849717del, NC_000019.10:g.849708_849717del, NC_000019.10:g.849709_849717del, NC_000019.10:g.849710_849717del, NC_000019.10:g.849711_849717del, NC_000019.10:g.849712_849717del, NC_000019.10:g.849714_849717del, NC_000019.10:g.849715_849717del, NC_000019.10:g.849716_849717del, NC_000019.10:g.849717del, NC_000019.10:g.849717dup, NC_000019.10:g.849716_849717dup, NC_000019.10:g.849715_849717dup, NC_000019.10:g.849714_849717dup, NC_000019.10:g.849713_849717dup, NC_000019.10:g.849712_849717dup, NC_000019.10:g.849711_849717dup, NC_000019.10:g.849710_849717dup, NC_000019.10:g.849709_849717dup, NC_000019.10:g.849708_849717dup, NC_000019.10:g.849707_849717dup, NC_000019.9:g.849699_849717del, NC_000019.9:g.849701_849717del, NC_000019.9:g.849702_849717del, NC_000019.9:g.849703_849717del, NC_000019.9:g.849704_849717del, NC_000019.9:g.849705_849717del, NC_000019.9:g.849706_849717del, NC_000019.9:g.849707_849717del, NC_000019.9:g.849708_849717del, NC_000019.9:g.849709_849717del, NC_000019.9:g.849710_849717del, NC_000019.9:g.849711_849717del, NC_000019.9:g.849712_849717del, NC_000019.9:g.849714_849717del, NC_000019.9:g.849715_849717del, NC_000019.9:g.849716_849717del, NC_000019.9:g.849717del, NC_000019.9:g.849717dup, NC_000019.9:g.849716_849717dup, NC_000019.9:g.849715_849717dup, NC_000019.9:g.849714_849717dup, NC_000019.9:g.849713_849717dup, NC_000019.9:g.849712_849717dup, NC_000019.9:g.849711_849717dup, NC_000019.9:g.849710_849717dup, NC_000019.9:g.849709_849717dup, NC_000019.9:g.849708_849717dup, NC_000019.9:g.849707_849717dup, NG_009627.1:g.2409_2427del, NG_009627.1:g.2411_2427del, NG_009627.1:g.2412_2427del, NG_009627.1:g.2413_2427del, NG_009627.1:g.2414_2427del, NG_009627.1:g.2415_2427del, NG_009627.1:g.2416_2427del, NG_009627.1:g.2417_2427del, NG_009627.1:g.2418_2427del, NG_009627.1:g.2419_2427del, NG_009627.1:g.2420_2427del, NG_009627.1:g.2421_2427del, NG_009627.1:g.2422_2427del, NG_009627.1:g.2424_2427del, NG_009627.1:g.2425_2427del, NG_009627.1:g.2426_2427del, NG_009627.1:g.2427del, NG_009627.1:g.2427dup, NG_009627.1:g.2426_2427dup, NG_009627.1:g.2425_2427dup, NG_009627.1:g.2424_2427dup, NG_009627.1:g.2423_2427dup, NG_009627.1:g.2422_2427dup, NG_009627.1:g.2421_2427dup, NG_009627.1:g.2420_2427dup, NG_009627.1:g.2419_2427dup, NG_009627.1:g.2418_2427dup, NG_009627.1:g.2417_2427dup, NT_187622.1:g.28539delinsTTTTTTTTTTT, NT_187622.1:g.28539_28547del, NT_187622.1:g.28532CTTTTTT[1], NT_187622.1:g.28539_28544del, NT_187622.1:g.28539_28543del, NT_187622.1:g.28539_28542del, NT_187622.1:g.28539_28541del, NT_187622.1:g.28539_28540del, NT_187622.1:g.28539del, NT_187622.1:g.28539C>T, NT_187622.1:g.28539delinsTT, NT_187622.1:g.28539delinsTTT, NT_187622.1:g.28539delinsTTTT, NT_187622.1:g.28539delinsTTTTT, NT_187622.1:g.28539delinsTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.28539delinsTTTTTTTTTTTTTTTTTTTTTT

Select item 148776198210.

rs1487761982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:856509 (GRCh38)
19:856509 (GRCh37)
Canonical SPDI:: NC_000019.10:856508:G:C
Gene:: ELANE (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000895/4 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000019.10:g.856509G>C, NC_000019.9:g.856509G>C, NG_007274.1:g.1845G>C, NG_009627.1:g.9219G>C, NT_187622.1:g.35395G>C

Select item 148769827611.

rs1487698276 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 19:854814 (GRCh38)
19:854814 (GRCh37)
Canonical SPDI:: NC_000019.10:854813:AAAAA:AAAA
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000324/6 (ALFA)
-=0.000071/2 (TOMMO)
-=0.000149/20 (GnomAD)
-=0.00028/74 (TOPMED)
HGVS:: NC_000019.10:g.854818del, NC_000019.9:g.854818del, NG_007274.1:g.154del, NG_009627.1:g.7528del, NT_187622.1:g.33704del

Select item 148745223112.

rs1487452231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:850646 (GRCh38)
19:850646 (GRCh37)
Canonical SPDI:: NC_000019.10:850645:T:C
Gene:: ELANE (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.850646T>C, NC_000019.9:g.850646T>C, NG_009627.1:g.3356T>C, NT_187622.1:g.29481T>C

Select item 148735114013.

rs1487351140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:853223 (GRCh38)
19:853223 (GRCh37)
Canonical SPDI:: NC_000019.10:853222:C:T
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.853223C>T, NC_000019.9:g.853223C>T, NG_009627.1:g.5933C>T, NT_187622.1:g.32109C>T

Select item 148721486614.

rs1487214866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:853458 (GRCh38)
19:853458 (GRCh37)
Canonical SPDI:: NC_000019.10:853457:G:T
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.853458G>T, NC_000019.9:g.853458G>T, NG_009627.1:g.6168G>T, NT_187622.1:g.32344G>T

Select item 148706207615.

rs1487062076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:854491 (GRCh38)
19:854491 (GRCh37)
Canonical SPDI:: NC_000019.10:854490:G:A,NC_000019.10:854490:G:C
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.854491G>A, NC_000019.10:g.854491G>C, NC_000019.9:g.854491G>A, NC_000019.9:g.854491G>C, NG_009627.1:g.7201G>A, NG_009627.1:g.7201G>C, NT_187622.1:g.33377G>A, NT_187622.1:g.33377G>C

Select item 148638036916.

rs1486380369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:852478 (GRCh38)
19:852478 (GRCh37)
Canonical SPDI:: NC_000019.10:852477:G:T
Gene:: ELANE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.852478G>T, NC_000019.9:g.852478G>T, NG_009627.1:g.5188G>T, NT_187622.1:g.31365G>T

Select item 148612512317.

rs1486125123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 19:853268 (GRCh38)
19:853269 (GRCh37)
Canonical SPDI:: NC_000019.10:853268:CGCGCG:CGCGCGCG
Gene:: ELANE (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCG=0./0 (ALFA)
CG=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.853269CG[4], NC_000019.9:g.853269CG[4], NG_009627.1:g.5979CG[4], NM_001972.4:c.236_237dup, NM_001972.3:c.236_237dup, NM_001972.2:c.236_237dup, NT_187622.1:g.32155CG[4], NP_001963.1:p.Val80fs

Select item 148599969718.

rs1485999697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:851351 (GRCh38)
19:851351 (GRCh37)
Canonical SPDI:: NC_000019.10:851350:C:T
Gene:: ELANE (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.851351C>T, NC_000019.9:g.851351C>T, NG_009627.1:g.4061C>T, NT_187622.1:g.30186C>T

Select item 148540252319.

rs1485402523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:852664 (GRCh38)
19:852664 (GRCh37)
Canonical SPDI:: NC_000019.10:852663:G:A
Gene:: ELANE (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_000019.10:g.852664G>A, NC_000019.9:g.852664G>A, NG_009627.1:g.5374G>A, NT_187622.1:g.31551G>A

Select item 148368357720.

rs1483683577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:850564 (GRCh38)
19:850564 (GRCh37)
Canonical SPDI:: NC_000019.10:850563:G:A
Gene:: ELANE (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.850564G>A, NC_000019.9:g.850564G>A, NG_009627.1:g.3274G>A, NT_187622.1:g.29399G>A

<< First< Prev

Page of 123

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2447

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity