SNP Links for Gene (Select 7941) - SNP

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Select item 14915818241.

rs1491581824 has merged into rs760308042 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:46717713 (GRCh38)
6:46685450 (GRCh37)
Canonical SPDI:: NC_000006.12:46717709:TTTTT:TTT,NC_000006.12:46717709:TTTTT:TTTT,NC_000006.12:46717709:TTTTT:TTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:46717709:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46717713_46717714del, NC_000006.12:g.46717714del, NC_000006.12:g.46717714dup, NC_000006.12:g.46717713_46717714dup, NC_000006.12:g.46717712_46717714dup, NC_000006.12:g.46717711_46717714dup, NC_000006.12:g.46717710_46717714dup, NC_000006.12:g.46717714_46717715insTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.46717714_46717715insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.46685450_46685451del, NC_000006.11:g.46685451del, NC_000006.11:g.46685451dup, NC_000006.11:g.46685450_46685451dup, NC_000006.11:g.46685449_46685451dup, NC_000006.11:g.46685448_46685451dup, NC_000006.11:g.46685447_46685451dup, NC_000006.11:g.46685451_46685452insTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.46685451_46685452insTTTTTTTTTTTTTTTTTTTTTT, NG_016204.1:g.22983_22984del, NG_016204.1:g.22984del, NG_016204.1:g.22984dup, NG_016204.1:g.22983_22984dup, NG_016204.1:g.22982_22984dup, NG_016204.1:g.22981_22984dup, NG_016204.1:g.22980_22984dup, NG_016204.1:g.22984_22985insAAAAAA, NG_016204.1:g.22984_22985insAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAAAAAAAAAAAA, NG_016204.1:g.22984_22985insAAAAAAAAAAAAAAAAAAAAAA

Select item 14913078032.

rs1491307803 has merged into rs368946627 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTCTCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC [Show Flanks]
Chromosome:: 6:46704464 (GRCh38)
6:46672201 (GRCh37)
Canonical SPDI:: NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000006.12:46704441:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
Gene:: PLA2G7 (Varview), TDRD6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCTCTCTC=0./0 (ALFA)
TCTCTCTCTC=0.14297/716 (1000Genomes)
HGVS:: NC_000006.12:g.46704442TC[11], NC_000006.12:g.46704442TC[12], NC_000006.12:g.46704442TC[13], NC_000006.12:g.46704442TC[14], NC_000006.12:g.46704442TC[15], NC_000006.12:g.46704442TC[16], NC_000006.12:g.46704442TC[17], NC_000006.12:g.46704442TC[18], NC_000006.12:g.46704442TC[20], NC_000006.12:g.46704442TC[21], NC_000006.12:g.46704442TC[22], NC_000006.12:g.46704442TC[23], NC_000006.12:g.46704442TC[24], NC_000006.12:g.46704442TC[25], NC_000006.12:g.46704442TC[26], NC_000006.12:g.46704442TC[27], NC_000006.12:g.46704442TC[28], NC_000006.12:g.46704442TC[29], NC_000006.11:g.46672179TC[11], NC_000006.11:g.46672179TC[12], NC_000006.11:g.46672179TC[13], NC_000006.11:g.46672179TC[14], NC_000006.11:g.46672179TC[15], NC_000006.11:g.46672179TC[16], NC_000006.11:g.46672179TC[17], NC_000006.11:g.46672179TC[18], NC_000006.11:g.46672179TC[20], NC_000006.11:g.46672179TC[21], NC_000006.11:g.46672179TC[22], NC_000006.11:g.46672179TC[23], NC_000006.11:g.46672179TC[24], NC_000006.11:g.46672179TC[25], NC_000006.11:g.46672179TC[26], NC_000006.11:g.46672179TC[27], NC_000006.11:g.46672179TC[28], NC_000006.11:g.46672179TC[29], NG_016204.1:g.36215GA[11], NG_016204.1:g.36215GA[12], NG_016204.1:g.36215GA[13], NG_016204.1:g.36215GA[14], NG_016204.1:g.36215GA[15], NG_016204.1:g.36215GA[16], NG_016204.1:g.36215GA[17], NG_016204.1:g.36215GA[18], NG_016204.1:g.36215GA[20], NG_016204.1:g.36215GA[21], NG_016204.1:g.36215GA[22], NG_016204.1:g.36215GA[23], NG_016204.1:g.36215GA[24], NG_016204.1:g.36215GA[25], NG_016204.1:g.36215GA[26], NG_016204.1:g.36215GA[27], NG_016204.1:g.36215GA[28], NG_016204.1:g.36215GA[29], NM_005084.4:c.*81GA[11], NM_005084.4:c.*81GA[12], NM_005084.4:c.*81GA[13], NM_005084.4:c.*81GA[14], NM_005084.4:c.*81GA[15], NM_005084.4:c.*81GA[16], NM_005084.4:c.*81GA[17], NM_005084.4:c.*81GA[18], NM_005084.4:c.*81GA[20], NM_005084.4:c.*81GA[21], NM_005084.4:c.*81GA[22], NM_005084.4:c.*81GA[23], NM_005084.4:c.*81GA[24], NM_005084.4:c.*81GA[25], NM_005084.4:c.*81GA[26], NM_005084.4:c.*81GA[27], NM_005084.4:c.*81GA[28], NM_005084.4:c.*81GA[29], NM_005084.3:c.*81GA[11], NM_005084.3:c.*81GA[12], NM_005084.3:c.*81GA[13], NM_005084.3:c.*81GA[14], NM_005084.3:c.*81GA[15], NM_005084.3:c.*81GA[16], NM_005084.3:c.*81GA[17], NM_005084.3:c.*81GA[18], NM_005084.3:c.*81GA[20], NM_005084.3:c.*81GA[21], NM_005084.3:c.*81GA[22], NM_005084.3:c.*81GA[23], NM_005084.3:c.*81GA[24], NM_005084.3:c.*81GA[25], NM_005084.3:c.*81GA[26], NM_005084.3:c.*81GA[27], NM_005084.3:c.*81GA[28], NM_005084.3:c.*81GA[29], NM_001168357.2:c.*81GA[11], NM_001168357.2:c.*81GA[12], NM_001168357.2:c.*81GA[13], NM_001168357.2:c.*81GA[14], NM_001168357.2:c.*81GA[15], NM_001168357.2:c.*81GA[16], NM_001168357.2:c.*81GA[17], NM_001168357.2:c.*81GA[18], NM_001168357.2:c.*81GA[20], NM_001168357.2:c.*81GA[21], NM_001168357.2:c.*81GA[22], NM_001168357.2:c.*81GA[23], NM_001168357.2:c.*81GA[24], NM_001168357.2:c.*81GA[25], NM_001168357.2:c.*81GA[26], NM_001168357.2:c.*81GA[27], NM_001168357.2:c.*81GA[28], NM_001168357.2:c.*81GA[29], NM_001168357.1:c.*81GA[11], NM_001168357.1:c.*81GA[12], NM_001168357.1:c.*81GA[13], NM_001168357.1:c.*81GA[14], NM_001168357.1:c.*81GA[15], NM_001168357.1:c.*81GA[16], NM_001168357.1:c.*81GA[17], NM_001168357.1:c.*81GA[18], NM_001168357.1:c.*81GA[20], NM_001168357.1:c.*81GA[21], NM_001168357.1:c.*81GA[22], NM_001168357.1:c.*81GA[23], NM_001168357.1:c.*81GA[24], NM_001168357.1:c.*81GA[25], NM_001168357.1:c.*81GA[26], NM_001168357.1:c.*81GA[27], NM_001168357.1:c.*81GA[28], NM_001168357.1:c.*81GA[29], NG_051941.1:g.29175TC[11], NG_051941.1:g.29175TC[12], NG_051941.1:g.29175TC[13], NG_051941.1:g.29175TC[14], NG_051941.1:g.29175TC[15], NG_051941.1:g.29175TC[16], NG_051941.1:g.29175TC[17], NG_051941.1:g.29175TC[18], NG_051941.1:g.29175TC[20], NG_051941.1:g.29175TC[21], NG_051941.1:g.29175TC[22], NG_051941.1:g.29175TC[23], NG_051941.1:g.29175TC[24], NG_051941.1:g.29175TC[25], NG_051941.1:g.29175TC[26], NG_051941.1:g.29175TC[27], NG_051941.1:g.29175TC[28], NG_051941.1:g.29175TC[29], XM_005249408.5:c.*81GA[11], XM_005249408.5:c.*81GA[12], XM_005249408.5:c.*81GA[13], XM_005249408.5:c.*81GA[14], XM_005249408.5:c.*81GA[15], XM_005249408.5:c.*81GA[16], XM_005249408.5:c.*81GA[17], XM_005249408.5:c.*81GA[18], XM_005249408.5:c.*81GA[20], XM_005249408.5:c.*81GA[21], XM_005249408.5:c.*81GA[22], XM_005249408.5:c.*81GA[23], XM_005249408.5:c.*81GA[24], XM_005249408.5:c.*81GA[25], XM_005249408.5:c.*81GA[26], XM_005249408.5:c.*81GA[27], XM_005249408.5:c.*81GA[28], XM_005249408.5:c.*81GA[29], XM_005249408.4:c.*81GA[11], XM_005249408.4:c.*81GA[12], XM_005249408.4:c.*81GA[13], XM_005249408.4:c.*81GA[14], XM_005249408.4:c.*81GA[15], XM_005249408.4:c.*81GA[16], XM_005249408.4:c.*81GA[17], XM_005249408.4:c.*81GA[18], XM_005249408.4:c.*81GA[20], XM_005249408.4:c.*81GA[21], XM_005249408.4:c.*81GA[22], XM_005249408.4:c.*81GA[23], XM_005249408.4:c.*81GA[24], XM_005249408.4:c.*81GA[25], XM_005249408.4:c.*81GA[26], XM_005249408.4:c.*81GA[27], XM_005249408.4:c.*81GA[28], XM_005249408.4:c.*81GA[29], XM_005249408.2:c.*81GA[11], XM_005249408.2:c.*81GA[12], XM_005249408.2:c.*81GA[13], XM_005249408.2:c.*81GA[14], XM_005249408.2:c.*81GA[15], XM_005249408.2:c.*81GA[16], XM_005249408.2:c.*81GA[17], XM_005249408.2:c.*81GA[18], XM_005249408.2:c.*81GA[20], XM_005249408.2:c.*81GA[21], XM_005249408.2:c.*81GA[22], XM_005249408.2:c.*81GA[23], XM_005249408.2:c.*81GA[24], XM_005249408.2:c.*81GA[25], XM_005249408.2:c.*81GA[26], XM_005249408.2:c.*81GA[27], XM_005249408.2:c.*81GA[28], XM_005249408.2:c.*81GA[29], XM_047419359.1:c.*81GA[11], XM_047419359.1:c.*81GA[12], XM_047419359.1:c.*81GA[13], XM_047419359.1:c.*81GA[14], XM_047419359.1:c.*81GA[15], XM_047419359.1:c.*81GA[16], XM_047419359.1:c.*81GA[17], XM_047419359.1:c.*81GA[18], XM_047419359.1:c.*81GA[20], XM_047419359.1:c.*81GA[21], XM_047419359.1:c.*81GA[22], XM_047419359.1:c.*81GA[23], XM_047419359.1:c.*81GA[24], XM_047419359.1:c.*81GA[25], XM_047419359.1:c.*81GA[26], XM_047419359.1:c.*81GA[27], XM_047419359.1:c.*81GA[28], XM_047419359.1:c.*81GA[29]

Select item 14912429123.

rs1491242912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 6:46704442 (GRCh38)
6:46672180 (GRCh37)
Canonical SPDI:: NC_000006.12:46704442:C:CCC
Gene:: PLA2G7 (Varview), TDRD6 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
CC=0.000055/6 (GnomAD)
HGVS:: NC_000006.12:g.46704443_46704444insCC, NC_000006.11:g.46672180_46672181insCC, NG_016204.1:g.36251_36252insGG, NM_005084.4:c.*117_*118insGG, NM_005084.3:c.*117_*118insGG, NM_001168357.2:c.*117_*118insGG, NM_001168357.1:c.*117_*118insGG, NG_051941.1:g.29176_29177insCC, XM_005249408.5:c.*117_*118insGG, XM_005249408.4:c.*117_*118insGG, XM_005249408.2:c.*117_*118insGG, XM_047419359.1:c.*117_*118insGG

Select item 14910663494.

rs1491066349 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:46717715 (GRCh38)
6:46685452 (GRCh37)
Canonical SPDI:: NC_000006.12:46717713:TCT:T
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00236/28 (ALFA)
-=0.00817/112 (TOMMO)
-=0.00896/316 (GnomAD)
HGVS:: NC_000006.12:g.46717715_46717716del, NC_000006.11:g.46685452_46685453del, NG_016204.1:g.22979_22980del

Select item 14909747075.

rs1490974707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46703760 (GRCh38)
6:46671497 (GRCh37)
Canonical SPDI:: NC_000006.12:46703759:A:G
Gene:: PLA2G7 (Varview), TDRD6 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46703760A>G, NC_000006.11:g.46671497A>G, NG_016204.1:g.36934T>C, NG_051941.1:g.28493A>G, NM_001010870.3:c.*1873A>G, NM_001010870.2:c.*1873A>G, NM_001168359.2:c.*1873A>G, NM_001168359.1:c.*1873A>G, NR_144468.2:n.3490A>G, NR_144468.1:n.3490A>G

Select item 14909415416.

rs1490941541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46719344 (GRCh38)
6:46687081 (GRCh37)
Canonical SPDI:: NC_000006.12:46719343:A:G
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46719344A>G, NC_000006.11:g.46687081A>G, NG_016204.1:g.21350T>C

Select item 14908764587.

rs1490876458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46702706 (GRCh38)
6:46670443 (GRCh37)
Canonical SPDI:: NC_000006.12:46702705:C:T
Gene:: TDRD6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_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_000006.12:g.46702706C>T, NC_000006.11:g.46670443C>T, NG_016204.1:g.37988G>A, NG_051941.1:g.27439C>T, NM_001010870.3:c.*819C>T, NM_001010870.2:c.*819C>T, NM_001168359.2:c.*819C>T, NM_001168359.1:c.*819C>T, NR_144468.2:n.2436C>T, NR_144468.1:n.2436C>T

Select item 14907878498.

rs1490787849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46712896 (GRCh38)
6:46680633 (GRCh37)
Canonical SPDI:: NC_000006.12:46712895:G:A
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46712896G>A, NC_000006.11:g.46680633G>A, NG_016204.1:g.27798C>T

Select item 14906707819.

rs1490670781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:46727268 (GRCh38)
6:46695005 (GRCh37)
Canonical SPDI:: NC_000006.12:46727267:T:A
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46727268T>A, NC_000006.11:g.46695005T>A, NG_016204.1:g.13426A>T

Select item 149057217510.

rs1490572175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:46708045 (GRCh38)
6:46675782 (GRCh37)
Canonical SPDI:: NC_000006.12:46708044:A:T
Gene:: PLA2G7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00059/8 (ALFA)
T=0.00089/4 (Estonian)
HGVS:: NC_000006.12:g.46708045A>T, NC_000006.11:g.46675782A>T, NG_016204.1:g.32649T>A, NM_005084.4:c.986T>A, NM_005084.3:c.986T>A, NM_001168357.2:c.986T>A, NM_001168357.1:c.986T>A, XM_005249408.5:c.986T>A, XM_005249408.4:c.986T>A, XM_005249408.3:c.986T>A, XM_005249408.2:c.986T>A, XM_005249408.1:c.986T>A, XM_047419359.1:c.851T>A, XM_047419360.1:c.*75T>A, NP_005075.3:p.Ile329Lys, NP_001161829.1:p.Ile329Lys, XP_005249465.1:p.Ile329Lys, XP_047275315.1:p.Ile284Lys

Select item 149056504511.

rs1490565045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46733212 (GRCh38)
6:46700949 (GRCh37)
Canonical SPDI:: NC_000006.12:46733211:G:A
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46733212G>A, NC_000006.11:g.46700949G>A, NG_016204.1:g.7482C>T

Select item 149051947612.

rs1490519476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:46730655 (GRCh38)
6:46698392 (GRCh37)
Canonical SPDI:: NC_000006.12:46730654:C:G
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.46730655C>G, NC_000006.11:g.46698392C>G, NG_016204.1:g.10039G>C

Select item 149046056513.

rs1490460565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46710758 (GRCh38)
6:46678495 (GRCh37)
Canonical SPDI:: NC_000006.12:46710757:G:A
Gene:: PLA2G7 (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_000006.12:g.46710758G>A, NC_000006.11:g.46678495G>A, NG_016204.1:g.29936C>T

Select item 149020919814.

rs1490209198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:46734946 (GRCh38)
6:46702683 (GRCh37)
Canonical SPDI:: NC_000006.12:46734945:C:A
Gene:: PLA2G7 (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_000006.12:g.46734946C>A, NC_000006.11:g.46702683C>A, NG_016204.1:g.5748G>T

Select item 149015547615.

rs1490155476 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCTCTTTCTTCAGAGCCATATCCA>- [Show Flanks]
Chromosome:: 6:46718818 (GRCh38)
6:46686555 (GRCh37)
Canonical SPDI:: NC_000006.12:46718816:AGGCTCTTTCTTCAGAGCCATATCCA:A
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46718818_46718842del, NC_000006.11:g.46686555_46686579del, NG_016204.1:g.21853_21877del

Select item 149002908416.

rs1490029084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:46731782 (GRCh38)
6:46699519 (GRCh37)
Canonical SPDI:: NC_000006.12:46731781:T:A
Gene:: PLA2G7 (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_000006.12:g.46731782T>A, NC_000006.11:g.46699519T>A, NG_016204.1:g.8912A>T

Select item 148997816317.

rs1489978163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:46734240 (GRCh38)
6:46701977 (GRCh37)
Canonical SPDI:: NC_000006.12:46734239:A:G,NC_000006.12:46734239:A:T
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/1 (ALFA)
T=0.00022/1 (Estonian)
HGVS:: NC_000006.12:g.46734240A>G, NC_000006.12:g.46734240A>T, NC_000006.11:g.46701977A>G, NC_000006.11:g.46701977A>T, NG_016204.1:g.6454T>C, NG_016204.1:g.6454T>A

Select item 148996135718.

rs1489961357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46720258 (GRCh38)
6:46687995 (GRCh37)
Canonical SPDI:: NC_000006.12:46720257:G:A
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.46720258G>A, NC_000006.11:g.46687995G>A, NG_016204.1:g.20436C>T

Select item 148966516719.

rs1489665167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46713610 (GRCh38)
6:46681347 (GRCh37)
Canonical SPDI:: NC_000006.12:46713609:A:G
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46713610A>G, NC_000006.11:g.46681347A>G, NG_016204.1:g.27084T>C

Select item 148957743820.

rs1489577438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:46716700 (GRCh38)
6:46684437 (GRCh37)
Canonical SPDI:: NC_000006.12:46716699:G:C
Gene:: PLA2G7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.46716700G>C, NC_000006.11:g.46684437G>C, NG_016204.1:g.23994C>G

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