SNP Links for Nucleotide (Select 556503428) - SNP

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Select item 14903165081.

rs1490316508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:109392590 (GRCh38)
6:109713793 (GRCh37)
Canonical SPDI:: NC_000006.12:109392589:T:A
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.109392590T>A, NC_000006.11:g.109713793T>A, NM_173672.5:c.*236A>T, NM_173672.4:c.*236A>T, NM_001111298.2:c.*236A>T, NR_104429.1:n.1873A>T, NM_001286360.1:c.*236A>T, NM_001286361.1:c.*340A>T

Select item 14898257552.

rs1489825755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:109391311 (GRCh38)
6:109712514 (GRCh37)
Canonical SPDI:: NC_000006.12:109391310:A:C,NC_000006.12:109391310:A:G
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.109391311A>C, NC_000006.12:g.109391311A>G, NC_000006.11:g.109712514A>C, NC_000006.11:g.109712514A>G, NM_173672.5:c.*1515T>G, NM_173672.5:c.*1515T>C, NM_173672.4:c.*1515T>G, NM_173672.4:c.*1515T>C, NM_001111298.2:c.*1515T>G, NM_001111298.2:c.*1515T>C, NR_104429.1:n.3152T>G, NR_104429.1:n.3152T>C, NM_001286360.1:c.*1515T>G, NM_001286360.1:c.*1515T>C, NM_001286361.1:c.*1619T>G, NM_001286361.1:c.*1619T>C

Select item 14896219813.

rs1489621981 has merged into rs60069816 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:109391296 (GRCh38)
6:109712499 (GRCh37)
Canonical SPDI:: NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000006.12:g.109391296_109391316del, NC_000006.12:g.109391297_109391316del, NC_000006.12:g.109391298_109391316del, NC_000006.12:g.109391299_109391316del, NC_000006.12:g.109391300_109391316del, NC_000006.12:g.109391301_109391316del, NC_000006.12:g.109391302_109391316del, NC_000006.12:g.109391303_109391316del, NC_000006.12:g.109391304_109391316del, NC_000006.12:g.109391305_109391316del, NC_000006.12:g.109391306_109391316del, NC_000006.12:g.109391307_109391316del, NC_000006.12:g.109391308_109391316del, NC_000006.12:g.109391309_109391316del, NC_000006.12:g.109391310_109391316del, NC_000006.12:g.109391311_109391316del, NC_000006.12:g.109391312_109391316del, NC_000006.12:g.109391313_109391316del, NC_000006.12:g.109391314_109391316del, NC_000006.12:g.109391315_109391316del, NC_000006.12:g.109391316del, NC_000006.12:g.109391316dup, NC_000006.12:g.109391315_109391316dup, NC_000006.12:g.109391314_109391316dup, NC_000006.12:g.109391313_109391316dup, NC_000006.12:g.109391312_109391316dup, NC_000006.12:g.109391311_109391316dup, NC_000006.12:g.109391310_109391316dup, NC_000006.12:g.109391309_109391316dup, NC_000006.12:g.109391308_109391316dup, NC_000006.12:g.109391306_109391316dup, NC_000006.11:g.109712499_109712519del, NC_000006.11:g.109712500_109712519del, NC_000006.11:g.109712501_109712519del, NC_000006.11:g.109712502_109712519del, NC_000006.11:g.109712503_109712519del, NC_000006.11:g.109712504_109712519del, NC_000006.11:g.109712505_109712519del, NC_000006.11:g.109712506_109712519del, NC_000006.11:g.109712507_109712519del, NC_000006.11:g.109712508_109712519del, NC_000006.11:g.109712509_109712519del, NC_000006.11:g.109712510_109712519del, NC_000006.11:g.109712511_109712519del, NC_000006.11:g.109712512_109712519del, NC_000006.11:g.109712513_109712519del, NC_000006.11:g.109712514_109712519del, NC_000006.11:g.109712515_109712519del, NC_000006.11:g.109712516_109712519del, NC_000006.11:g.109712517_109712519del, NC_000006.11:g.109712518_109712519del, NC_000006.11:g.109712519del, NC_000006.11:g.109712519dup, NC_000006.11:g.109712518_109712519dup, NC_000006.11:g.109712517_109712519dup, NC_000006.11:g.109712516_109712519dup, NC_000006.11:g.109712515_109712519dup, NC_000006.11:g.109712514_109712519dup, NC_000006.11:g.109712513_109712519dup, NC_000006.11:g.109712512_109712519dup, NC_000006.11:g.109712511_109712519dup, NC_000006.11:g.109712509_109712519dup, NM_173672.5:c.*1518_*1538del, NM_173672.5:c.*1519_*1538del, NM_173672.5:c.*1520_*1538del, NM_173672.5:c.*1521_*1538del, NM_173672.5:c.*1522_*1538del, NM_173672.5:c.*1523_*1538del, NM_173672.5:c.*1524_*1538del, NM_173672.5:c.*1525_*1538del, NM_173672.5:c.*1526_*1538del, NM_173672.5:c.*1527_*1538del, NM_173672.5:c.*1528_*1538del, NM_173672.5:c.*1529_*1538del, NM_173672.5:c.*1530_*1538del, NM_173672.5:c.*1531_*1538del, NM_173672.5:c.*1532_*1538del, NM_173672.5:c.*1533_*1538del, NM_173672.5:c.*1534_*1538del, NM_173672.5:c.*1535_*1538del, NM_173672.5:c.*1536_*1538del, NM_173672.5:c.*1537_*1538del, NM_173672.5:c.*1538del, NM_173672.5:c.*1538dup, NM_173672.5:c.*1537_*1538dup, NM_173672.5:c.*1536_*1538dup, NM_173672.5:c.*1535_*1538dup, NM_173672.5:c.*1534_*1538dup, NM_173672.5:c.*1533_*1538dup, NM_173672.5:c.*1532_*1538dup, NM_173672.5:c.*1531_*1538dup, NM_173672.5:c.*1530_*1538dup, NM_173672.5:c.*1528_*1538dup, NM_173672.4:c.*1518_*1538del, NM_173672.4:c.*1519_*1538del, NM_173672.4:c.*1520_*1538del, NM_173672.4:c.*1521_*1538del, NM_173672.4:c.*1522_*1538del, NM_173672.4:c.*1523_*1538del, NM_173672.4:c.*1524_*1538del, NM_173672.4:c.*1525_*1538del, NM_173672.4:c.*1526_*1538del, NM_173672.4:c.*1527_*1538del, NM_173672.4:c.*1528_*1538del, NM_173672.4:c.*1529_*1538del, NM_173672.4:c.*1530_*1538del, NM_173672.4:c.*1531_*1538del, NM_173672.4:c.*1532_*1538del, NM_173672.4:c.*1533_*1538del, NM_173672.4:c.*1534_*1538del, NM_173672.4:c.*1535_*1538del, NM_173672.4:c.*1536_*1538del, NM_173672.4:c.*1537_*1538del, NM_173672.4:c.*1538del, NM_173672.4:c.*1538dup, NM_173672.4:c.*1537_*1538dup, NM_173672.4:c.*1536_*1538dup, NM_173672.4:c.*1535_*1538dup, NM_173672.4:c.*1534_*1538dup, NM_173672.4:c.*1533_*1538dup, NM_173672.4:c.*1532_*1538dup, NM_173672.4:c.*1531_*1538dup, NM_173672.4:c.*1530_*1538dup, NM_173672.4:c.*1528_*1538dup, NM_001111298.2:c.*1518_*1538del, NM_001111298.2:c.*1519_*1538del, NM_001111298.2:c.*1520_*1538del, NM_001111298.2:c.*1521_*1538del, NM_001111298.2:c.*1522_*1538del, NM_001111298.2:c.*1523_*1538del, NM_001111298.2:c.*1524_*1538del, NM_001111298.2:c.*1525_*1538del, NM_001111298.2:c.*1526_*1538del, NM_001111298.2:c.*1527_*1538del, NM_001111298.2:c.*1528_*1538del, NM_001111298.2:c.*1529_*1538del, NM_001111298.2:c.*1530_*1538del, NM_001111298.2:c.*1531_*1538del, NM_001111298.2:c.*1532_*1538del, NM_001111298.2:c.*1533_*1538del, NM_001111298.2:c.*1534_*1538del, NM_001111298.2:c.*1535_*1538del, NM_001111298.2:c.*1536_*1538del, NM_001111298.2:c.*1537_*1538del, NM_001111298.2:c.*1538del, NM_001111298.2:c.*1538dup, NM_001111298.2:c.*1537_*1538dup, NM_001111298.2:c.*1536_*1538dup, NM_001111298.2:c.*1535_*1538dup, NM_001111298.2:c.*1534_*1538dup, NM_001111298.2:c.*1533_*1538dup, NM_001111298.2:c.*1532_*1538dup, NM_001111298.2:c.*1531_*1538dup, NM_001111298.2:c.*1530_*1538dup, NM_001111298.2:c.*1528_*1538dup, NR_104429.1:n.3155_3175del, NR_104429.1:n.3156_3175del, NR_104429.1:n.3157_3175del, NR_104429.1:n.3158_3175del, NR_104429.1:n.3159_3175del, NR_104429.1:n.3160_3175del, NR_104429.1:n.3161_3175del, NR_104429.1:n.3162_3175del, NR_104429.1:n.3163_3175del, NR_104429.1:n.3164_3175del, NR_104429.1:n.3165_3175del, NR_104429.1:n.3166_3175del, NR_104429.1:n.3167_3175del, NR_104429.1:n.3168_3175del, NR_104429.1:n.3169_3175del, NR_104429.1:n.3170_3175del, NR_104429.1:n.3171_3175del, NR_104429.1:n.3172_3175del, NR_104429.1:n.3173_3175del, NR_104429.1:n.3174_3175del, NR_104429.1:n.3175del, NR_104429.1:n.3175dup, NR_104429.1:n.3174_3175dup, NR_104429.1:n.3173_3175dup, NR_104429.1:n.3172_3175dup, NR_104429.1:n.3171_3175dup, NR_104429.1:n.3170_3175dup, NR_104429.1:n.3169_3175dup, NR_104429.1:n.3168_3175dup, NR_104429.1:n.3167_3175dup, NR_104429.1:n.3165_3175dup, NM_001286360.1:c.*1518_*1538del, NM_001286360.1:c.*1519_*1538del, NM_001286360.1:c.*1520_*1538del, NM_001286360.1:c.*1521_*1538del, NM_001286360.1:c.*1522_*1538del, NM_001286360.1:c.*1523_*1538del, NM_001286360.1:c.*1524_*1538del, NM_001286360.1:c.*1525_*1538del, NM_001286360.1:c.*1526_*1538del, NM_001286360.1:c.*1527_*1538del, NM_001286360.1:c.*1528_*1538del, NM_001286360.1:c.*1529_*1538del, NM_001286360.1:c.*1530_*1538del, NM_001286360.1:c.*1531_*1538del, NM_001286360.1:c.*1532_*1538del, NM_001286360.1:c.*1533_*1538del, NM_001286360.1:c.*1534_*1538del, NM_001286360.1:c.*1535_*1538del, NM_001286360.1:c.*1536_*1538del, NM_001286360.1:c.*1537_*1538del, NM_001286360.1:c.*1538del, NM_001286360.1:c.*1538dup, NM_001286360.1:c.*1537_*1538dup, NM_001286360.1:c.*1536_*1538dup, NM_001286360.1:c.*1535_*1538dup, NM_001286360.1:c.*1534_*1538dup, NM_001286360.1:c.*1533_*1538dup, NM_001286360.1:c.*1532_*1538dup, NM_001286360.1:c.*1531_*1538dup, NM_001286360.1:c.*1530_*1538dup, NM_001286360.1:c.*1528_*1538dup, NM_001286361.1:c.*1622_*1642del, NM_001286361.1:c.*1623_*1642del, NM_001286361.1:c.*1624_*1642del, NM_001286361.1:c.*1625_*1642del, NM_001286361.1:c.*1626_*1642del, NM_001286361.1:c.*1627_*1642del, NM_001286361.1:c.*1628_*1642del, NM_001286361.1:c.*1629_*1642del, NM_001286361.1:c.*1630_*1642del, NM_001286361.1:c.*1631_*1642del, NM_001286361.1:c.*1632_*1642del, NM_001286361.1:c.*1633_*1642del, NM_001286361.1:c.*1634_*1642del, NM_001286361.1:c.*1635_*1642del, NM_001286361.1:c.*1636_*1642del, NM_001286361.1:c.*1637_*1642del, NM_001286361.1:c.*1638_*1642del, NM_001286361.1:c.*1639_*1642del, NM_001286361.1:c.*1640_*1642del, NM_001286361.1:c.*1641_*1642del, NM_001286361.1:c.*1642del, NM_001286361.1:c.*1642dup, NM_001286361.1:c.*1641_*1642dup, NM_001286361.1:c.*1640_*1642dup, NM_001286361.1:c.*1639_*1642dup, NM_001286361.1:c.*1638_*1642dup, NM_001286361.1:c.*1637_*1642dup, NM_001286361.1:c.*1636_*1642dup, NM_001286361.1:c.*1635_*1642dup, NM_001286361.1:c.*1634_*1642dup, NM_001286361.1:c.*1632_*1642dup

Select item 14884480464.

rs1488448046 [Homo sapiens]

Variant type:: DEL
Alleles:: GAG>- [Show Flanks]
Chromosome:: 6:109391728 (GRCh38)
6:109712931 (GRCh37)
Canonical SPDI:: NC_000006.12:109391727:GAG:
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.109391728_109391730del, NC_000006.11:g.109712931_109712933del, NM_173672.5:c.*1096_*1098del, NM_173672.4:c.*1096_*1098del, NM_001111298.2:c.*1096_*1098del, NR_104429.1:n.2733_2735del, NM_001286360.1:c.*1096_*1098del, NM_001286361.1:c.*1200_*1202del

Select item 14873186705.

rs1487318670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:109440486 (GRCh38)
6:109761689 (GRCh37)
Canonical SPDI:: NC_000006.12:109440485:G:A
Gene:: SMPD2 (Varview), PPIL6 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000006.12:g.109440486G>A, NC_000006.11:g.109761689G>A, NM_173672.5:c.105C>T, NM_173672.4:c.105C>T, XM_011535766.4:c.105C>T, XM_011535766.3:c.105C>T, XM_011535766.2:c.105C>T, XM_011535766.1:c.105C>T, XM_011535767.4:c.105C>T, XM_011535767.3:c.105C>T, XM_011535767.2:c.105C>T, XM_011535767.1:c.105C>T, XM_011535769.3:c.105C>T, XM_011535769.2:c.105C>T, XM_011535769.1:c.105C>T, NM_001111298.2:c.105C>T, XM_024446407.2:c.105C>T, XM_024446407.1:c.105C>T, XM_047418674.1:c.105C>T, XM_047418675.1:c.105C>T, NR_104429.1:n.686C>T, NM_001286360.1:c.105C>T, NM_001286361.1:c.105C>T, XM_047418673.1:c.105C>T

Select item 14869824666.

rs1486982466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:109391586 (GRCh38)
6:109712789 (GRCh37)
Canonical SPDI:: NC_000006.12:109391585:T:C
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.109391586T>C, NC_000006.11:g.109712789T>C, NM_173672.5:c.*1240A>G, NM_173672.4:c.*1240A>G, NM_001111298.2:c.*1240A>G, NR_104429.1:n.2877A>G, NM_001286360.1:c.*1240A>G, NM_001286361.1:c.*1344A>G

Select item 14859482997.

rs1485948299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:109440619 (GRCh38)
6:109761822 (GRCh37)
Canonical SPDI:: NC_000006.12:109440618:C:T
Gene:: SMPD2 (Varview), PPIL6 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_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.109440619C>T, NC_000006.11:g.109761822C>T, NM_173672.5:c.-29G>A, NM_173672.4:c.-29G>A, XM_011535766.4:c.-29G>A, XM_011535766.3:c.-29G>A, XM_011535766.2:c.-29G>A, XM_011535766.1:c.-29G>A, XM_011535767.4:c.-29G>A, XM_011535767.3:c.-29G>A, XM_011535767.2:c.-29G>A, XM_011535767.1:c.-29G>A, XM_011535769.3:c.-29G>A, XM_011535769.2:c.-29G>A, XM_011535769.1:c.-29G>A, NM_001111298.2:c.-29G>A, XM_024446407.2:c.-29G>A, XM_024446407.1:c.-29G>A, XM_047418674.1:c.-29G>A, XM_047418675.1:c.-29G>A, NR_104429.1:n.553G>A, NM_001286360.1:c.-29G>A, NM_001286361.1:c.-29G>A, XM_047418673.1:c.-29G>A

Select item 14837764338.

rs1483776433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:109390463 (GRCh38)
6:109711666 (GRCh37)
Canonical SPDI:: NC_000006.12:109390462:C:G
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.109390463C>G, NC_000006.11:g.109711666C>G, NM_173672.5:c.*2363G>C, NM_173672.4:c.*2363G>C, NM_001111298.2:c.*2363G>C, NR_104429.1:n.4000G>C, NM_001286360.1:c.*2363G>C, NM_001286361.1:c.*2467G>C

Select item 14820394049.

rs1482039404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:109431261 (GRCh38)
6:109752464 (GRCh37)
Canonical SPDI:: NC_000006.12:109431260:G:A,NC_000006.12:109431260:G:C
Gene:: PPIL6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.109431261G>A, NC_000006.12:g.109431261G>C, NC_000006.11:g.109752464G>A, NC_000006.11:g.109752464G>C, NM_173672.5:c.316C>T, NM_173672.5:c.316C>G, NM_173672.4:c.316C>T, NM_173672.4:c.316C>G, XM_011535766.4:c.316C>T, XM_011535766.4:c.316C>G, XM_011535766.3:c.316C>T, XM_011535766.3:c.316C>G, XM_011535766.2:c.316C>T, XM_011535766.2:c.316C>G, XM_011535766.1:c.316C>T, XM_011535766.1:c.316C>G, XM_011535767.4:c.316C>T, XM_011535767.4:c.316C>G, XM_011535767.3:c.316C>T, XM_011535767.3:c.316C>G, XM_011535767.2:c.316C>T, XM_011535767.2:c.316C>G, XM_011535767.1:c.316C>T, XM_011535767.1:c.316C>G, XM_011535769.3:c.316C>T, XM_011535769.3:c.316C>G, XM_011535769.2:c.316C>T, XM_011535769.2:c.316C>G, XM_011535769.1:c.316C>T, XM_011535769.1:c.316C>G, NM_001111298.2:c.316C>T, NM_001111298.2:c.316C>G, XM_024446407.2:c.220C>T, XM_024446407.2:c.220C>G, XM_024446407.1:c.220C>T, XM_024446407.1:c.220C>G, XM_047418674.1:c.220C>T, XM_047418674.1:c.220C>G, NR_104429.1:n.897C>T, NR_104429.1:n.897C>G, NM_001286360.1:c.220C>T, NM_001286360.1:c.220C>G, NM_001286361.1:c.220C>T, NM_001286361.1:c.220C>G, XM_047418673.1:c.220C>T, XM_047418673.1:c.220C>G, NP_775943.1:p.Gln106Ter, NP_775943.1:p.Gln106Glu, XP_011534068.1:p.Gln106Ter, XP_011534068.1:p.Gln106Glu, XP_011534069.1:p.Gln106Ter, XP_011534069.1:p.Gln106Glu, XP_011534071.1:p.Gln106Ter, XP_011534071.1:p.Gln106Glu, NP_001104768.2:p.Gln106Ter, NP_001104768.2:p.Gln106Glu, XP_024302175.1:p.Gln74Ter, XP_024302175.1:p.Gln74Glu, XP_047274630.1:p.Gln74Ter, XP_047274630.1:p.Gln74Glu, NP_001273289.1:p.Gln74Ter, NP_001273289.1:p.Gln74Glu, NP_001273290.1:p.Gln74Ter, NP_001273290.1:p.Gln74Glu, XP_047274629.1:p.Gln74Ter, XP_047274629.1:p.Gln74Glu

Select item 148167266310.

rs1481672663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:109441059 (GRCh38)
6:109762262 (GRCh37)
Canonical SPDI:: NC_000006.12:109441058:C:A,NC_000006.12:109441058:C:T
Gene:: SMPD2 (Varview), PPIL6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.109441059C>A, NC_000006.12:g.109441059C>T, NC_000006.11:g.109762262C>A, NC_000006.11:g.109762262C>T, NM_173672.4:c.-469G>T, NM_173672.4:c.-469G>A, XM_011535766.4:c.-469G>T, XM_011535766.4:c.-469G>A, XM_011535767.4:c.-469G>T, XM_011535767.4:c.-469G>A, XM_011535769.3:c.-469G>T, XM_011535769.3:c.-469G>A, NM_003080.3:c.-63C>A, NM_003080.3:c.-63C>T, NM_003080.2:c.-63C>A, NM_003080.2:c.-63C>T, XR_942566.3:n.336C>A, XR_942566.3:n.336C>T, XR_942566.2:n.339C>A, XR_942566.2:n.339C>T, XR_942566.1:n.414C>A, XR_942566.1:n.414C>T, NM_001111298.2:c.-469G>T, NM_001111298.2:c.-469G>A, XM_024446407.2:c.-469G>T, XM_024446407.2:c.-469G>A, XM_047418674.1:c.-469G>T, XM_047418674.1:c.-469G>A, XM_047418675.1:c.-469G>T, XM_047418675.1:c.-469G>A, NR_104429.1:n.113G>T, NR_104429.1:n.113G>A, NM_001286360.1:c.-469G>T, NM_001286360.1:c.-469G>A, NM_001286361.1:c.-469G>T, NM_001286361.1:c.-469G>A, XM_047418673.1:c.-469G>T, XM_047418673.1:c.-469G>A

Select item 148165285811.

rs1481652858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:109400135 (GRCh38)
6:109721338 (GRCh37)
Canonical SPDI:: NC_000006.12:109400134:C:T
Gene:: PPIL6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,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_000006.12:g.109400135C>T, NC_000006.11:g.109721338C>T, NM_173672.5:c.724G>A, NM_173672.4:c.724G>A, NM_001111298.2:c.802G>A, NR_104429.1:n.1425G>A, NM_001286360.1:c.628G>A, NP_775943.1:p.Val242Ile, NP_001104768.2:p.Val268Ile, NP_001273289.1:p.Val210Ile

Select item 148123957512.

rs1481239575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:109392634 (GRCh38)
6:109713837 (GRCh37)
Canonical SPDI:: NC_000006.12:109392633:G:A
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.109392634G>A, NC_000006.11:g.109713837G>A, NM_173672.5:c.*192C>T, NM_173672.4:c.*192C>T, NM_001111298.2:c.*192C>T, NR_104429.1:n.1829C>T, NM_001286360.1:c.*192C>T, NM_001286361.1:c.*296C>T

Select item 148109897013.

rs1481098970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:109440815 (GRCh38)
6:109762018 (GRCh37)
Canonical SPDI:: NC_000006.12:109440814:C:T
Gene:: SMPD2 (Varview), PPIL6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.109440815C>T, NC_000006.11:g.109762018C>T, NM_173672.4:c.-225G>A, XM_011535766.4:c.-225G>A, XM_011535767.4:c.-225G>A, XM_011535769.3:c.-225G>A, NM_003080.3:c.-307C>T, NM_003080.2:c.-307C>T, XR_942566.3:n.92C>T, XR_942566.2:n.95C>T, XR_942566.1:n.170C>T, NM_001111298.2:c.-225G>A, XM_024446407.2:c.-225G>A, XM_047418674.1:c.-225G>A, XM_047418675.1:c.-225G>A, NR_104429.1:n.357G>A, NM_001286360.1:c.-225G>A, NM_001286361.1:c.-225G>A, XM_047418673.1:c.-225G>A

Select item 148085704614.

rs1480857046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:109391711 (GRCh38)
6:109712914 (GRCh37)
Canonical SPDI:: NC_000006.12:109391710:C:T
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.109391711C>T, NC_000006.11:g.109712914C>T, NM_173672.5:c.*1115G>A, NM_173672.4:c.*1115G>A, NM_001111298.2:c.*1115G>A, NR_104429.1:n.2752G>A, NM_001286360.1:c.*1115G>A, NM_001286361.1:c.*1219G>A

Select item 148036560915.

rs1480365609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:109440506 (GRCh38)
6:109761709 (GRCh37)
Canonical SPDI:: NC_000006.12:109440505:C:G
Gene:: SMPD2 (Varview), PPIL6 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.109440506C>G, NC_000006.11:g.109761709C>G, NM_173672.5:c.85G>C, NM_173672.4:c.85G>C, XM_011535766.4:c.85G>C, XM_011535766.3:c.85G>C, XM_011535766.2:c.85G>C, XM_011535766.1:c.85G>C, XM_011535767.4:c.85G>C, XM_011535767.3:c.85G>C, XM_011535767.2:c.85G>C, XM_011535767.1:c.85G>C, XM_011535769.3:c.85G>C, XM_011535769.2:c.85G>C, XM_011535769.1:c.85G>C, NM_001111298.2:c.85G>C, XM_024446407.2:c.85G>C, XM_024446407.1:c.85G>C, XM_047418674.1:c.85G>C, XM_047418675.1:c.85G>C, NR_104429.1:n.666G>C, NM_001286360.1:c.85G>C, NM_001286361.1:c.85G>C, XM_047418673.1:c.85G>C, NP_775943.1:p.Val29Leu, XP_011534068.1:p.Val29Leu, XP_011534069.1:p.Val29Leu, XP_011534071.1:p.Val29Leu, NP_001104768.2:p.Val29Leu, XP_024302175.1:p.Val29Leu, XP_047274630.1:p.Val29Leu, XP_047274631.1:p.Val29Leu, NP_001273289.1:p.Val29Leu, NP_001273290.1:p.Val29Leu, XP_047274629.1:p.Val29Leu

Select item 148002906616.

rs1480029066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:109440753 (GRCh38)
6:109761956 (GRCh37)
Canonical SPDI:: NC_000006.12:109440752:C:T
Gene:: SMPD2 (Varview), PPIL6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.109440753C>T, NC_000006.11:g.109761956C>T, NM_173672.4:c.-163G>A, XM_011535766.4:c.-163G>A, XM_011535767.4:c.-163G>A, XM_011535769.3:c.-163G>A, NM_003080.3:c.-369C>T, NM_003080.2:c.-369C>T, XR_942566.3:n.30C>T, XR_942566.2:n.33C>T, XR_942566.1:n.108C>T, NM_001111298.2:c.-163G>A, XM_024446407.2:c.-163G>A, XM_047418674.1:c.-163G>A, XM_047418675.1:c.-163G>A, NR_104429.1:n.419G>A, NM_001286360.1:c.-163G>A, NM_001286361.1:c.-163G>A, XM_047418673.1:c.-163G>A

Select item 147992042617.

rs1479920426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:109391834 (GRCh38)
6:109713037 (GRCh37)
Canonical SPDI:: NC_000006.12:109391833:G:A
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.109391834G>A, NC_000006.11:g.109713037G>A, NM_173672.5:c.*992C>T, NM_173672.4:c.*992C>T, NM_001111298.2:c.*992C>T, NR_104429.1:n.2629C>T, NM_001286360.1:c.*992C>T, NM_001286361.1:c.*1096C>T

Select item 147950126918.

rs1479501269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:109391181 (GRCh38)
6:109712384 (GRCh37)
Canonical SPDI:: NC_000006.12:109391180:G:A,NC_000006.12:109391180:G:C
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.109391181G>A, NC_000006.12:g.109391181G>C, NC_000006.11:g.109712384G>A, NC_000006.11:g.109712384G>C, NM_173672.5:c.*1645C>T, NM_173672.5:c.*1645C>G, NM_173672.4:c.*1645C>T, NM_173672.4:c.*1645C>G, NM_001111298.2:c.*1645C>T, NM_001111298.2:c.*1645C>G, NR_104429.1:n.3282C>T, NR_104429.1:n.3282C>G, NM_001286360.1:c.*1645C>T, NM_001286360.1:c.*1645C>G, NM_001286361.1:c.*1749C>T, NM_001286361.1:c.*1749C>G

Select item 147922677319.

rs1479226773 has merged into rs60069816 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:109391296 (GRCh38)
6:109712499 (GRCh37)
Canonical SPDI:: NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:109391287:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000006.12:g.109391296_109391316del, NC_000006.12:g.109391297_109391316del, NC_000006.12:g.109391298_109391316del, NC_000006.12:g.109391299_109391316del, NC_000006.12:g.109391300_109391316del, NC_000006.12:g.109391301_109391316del, NC_000006.12:g.109391302_109391316del, NC_000006.12:g.109391303_109391316del, NC_000006.12:g.109391304_109391316del, NC_000006.12:g.109391305_109391316del, NC_000006.12:g.109391306_109391316del, NC_000006.12:g.109391307_109391316del, NC_000006.12:g.109391308_109391316del, NC_000006.12:g.109391309_109391316del, NC_000006.12:g.109391310_109391316del, NC_000006.12:g.109391311_109391316del, NC_000006.12:g.109391312_109391316del, NC_000006.12:g.109391313_109391316del, NC_000006.12:g.109391314_109391316del, NC_000006.12:g.109391315_109391316del, NC_000006.12:g.109391316del, NC_000006.12:g.109391316dup, NC_000006.12:g.109391315_109391316dup, NC_000006.12:g.109391314_109391316dup, NC_000006.12:g.109391313_109391316dup, NC_000006.12:g.109391312_109391316dup, NC_000006.12:g.109391311_109391316dup, NC_000006.12:g.109391310_109391316dup, NC_000006.12:g.109391309_109391316dup, NC_000006.12:g.109391308_109391316dup, NC_000006.12:g.109391306_109391316dup, NC_000006.11:g.109712499_109712519del, NC_000006.11:g.109712500_109712519del, NC_000006.11:g.109712501_109712519del, NC_000006.11:g.109712502_109712519del, NC_000006.11:g.109712503_109712519del, NC_000006.11:g.109712504_109712519del, NC_000006.11:g.109712505_109712519del, NC_000006.11:g.109712506_109712519del, NC_000006.11:g.109712507_109712519del, NC_000006.11:g.109712508_109712519del, NC_000006.11:g.109712509_109712519del, NC_000006.11:g.109712510_109712519del, NC_000006.11:g.109712511_109712519del, NC_000006.11:g.109712512_109712519del, NC_000006.11:g.109712513_109712519del, NC_000006.11:g.109712514_109712519del, NC_000006.11:g.109712515_109712519del, NC_000006.11:g.109712516_109712519del, NC_000006.11:g.109712517_109712519del, NC_000006.11:g.109712518_109712519del, NC_000006.11:g.109712519del, NC_000006.11:g.109712519dup, NC_000006.11:g.109712518_109712519dup, NC_000006.11:g.109712517_109712519dup, NC_000006.11:g.109712516_109712519dup, NC_000006.11:g.109712515_109712519dup, NC_000006.11:g.109712514_109712519dup, NC_000006.11:g.109712513_109712519dup, NC_000006.11:g.109712512_109712519dup, NC_000006.11:g.109712511_109712519dup, NC_000006.11:g.109712509_109712519dup, NM_173672.5:c.*1518_*1538del, NM_173672.5:c.*1519_*1538del, NM_173672.5:c.*1520_*1538del, NM_173672.5:c.*1521_*1538del, NM_173672.5:c.*1522_*1538del, NM_173672.5:c.*1523_*1538del, NM_173672.5:c.*1524_*1538del, NM_173672.5:c.*1525_*1538del, NM_173672.5:c.*1526_*1538del, NM_173672.5:c.*1527_*1538del, NM_173672.5:c.*1528_*1538del, NM_173672.5:c.*1529_*1538del, NM_173672.5:c.*1530_*1538del, NM_173672.5:c.*1531_*1538del, NM_173672.5:c.*1532_*1538del, NM_173672.5:c.*1533_*1538del, NM_173672.5:c.*1534_*1538del, NM_173672.5:c.*1535_*1538del, NM_173672.5:c.*1536_*1538del, NM_173672.5:c.*1537_*1538del, NM_173672.5:c.*1538del, NM_173672.5:c.*1538dup, NM_173672.5:c.*1537_*1538dup, NM_173672.5:c.*1536_*1538dup, NM_173672.5:c.*1535_*1538dup, NM_173672.5:c.*1534_*1538dup, NM_173672.5:c.*1533_*1538dup, NM_173672.5:c.*1532_*1538dup, NM_173672.5:c.*1531_*1538dup, NM_173672.5:c.*1530_*1538dup, NM_173672.5:c.*1528_*1538dup, NM_173672.4:c.*1518_*1538del, NM_173672.4:c.*1519_*1538del, NM_173672.4:c.*1520_*1538del, NM_173672.4:c.*1521_*1538del, NM_173672.4:c.*1522_*1538del, NM_173672.4:c.*1523_*1538del, NM_173672.4:c.*1524_*1538del, NM_173672.4:c.*1525_*1538del, NM_173672.4:c.*1526_*1538del, NM_173672.4:c.*1527_*1538del, NM_173672.4:c.*1528_*1538del, NM_173672.4:c.*1529_*1538del, NM_173672.4:c.*1530_*1538del, NM_173672.4:c.*1531_*1538del, NM_173672.4:c.*1532_*1538del, NM_173672.4:c.*1533_*1538del, NM_173672.4:c.*1534_*1538del, NM_173672.4:c.*1535_*1538del, NM_173672.4:c.*1536_*1538del, NM_173672.4:c.*1537_*1538del, NM_173672.4:c.*1538del, NM_173672.4:c.*1538dup, NM_173672.4:c.*1537_*1538dup, NM_173672.4:c.*1536_*1538dup, NM_173672.4:c.*1535_*1538dup, NM_173672.4:c.*1534_*1538dup, NM_173672.4:c.*1533_*1538dup, NM_173672.4:c.*1532_*1538dup, NM_173672.4:c.*1531_*1538dup, NM_173672.4:c.*1530_*1538dup, NM_173672.4:c.*1528_*1538dup, NM_001111298.2:c.*1518_*1538del, NM_001111298.2:c.*1519_*1538del, NM_001111298.2:c.*1520_*1538del, NM_001111298.2:c.*1521_*1538del, NM_001111298.2:c.*1522_*1538del, NM_001111298.2:c.*1523_*1538del, NM_001111298.2:c.*1524_*1538del, NM_001111298.2:c.*1525_*1538del, NM_001111298.2:c.*1526_*1538del, NM_001111298.2:c.*1527_*1538del, NM_001111298.2:c.*1528_*1538del, NM_001111298.2:c.*1529_*1538del, NM_001111298.2:c.*1530_*1538del, NM_001111298.2:c.*1531_*1538del, NM_001111298.2:c.*1532_*1538del, NM_001111298.2:c.*1533_*1538del, NM_001111298.2:c.*1534_*1538del, NM_001111298.2:c.*1535_*1538del, NM_001111298.2:c.*1536_*1538del, NM_001111298.2:c.*1537_*1538del, NM_001111298.2:c.*1538del, NM_001111298.2:c.*1538dup, NM_001111298.2:c.*1537_*1538dup, NM_001111298.2:c.*1536_*1538dup, NM_001111298.2:c.*1535_*1538dup, NM_001111298.2:c.*1534_*1538dup, NM_001111298.2:c.*1533_*1538dup, NM_001111298.2:c.*1532_*1538dup, NM_001111298.2:c.*1531_*1538dup, NM_001111298.2:c.*1530_*1538dup, NM_001111298.2:c.*1528_*1538dup, NR_104429.1:n.3155_3175del, NR_104429.1:n.3156_3175del, NR_104429.1:n.3157_3175del, NR_104429.1:n.3158_3175del, NR_104429.1:n.3159_3175del, NR_104429.1:n.3160_3175del, NR_104429.1:n.3161_3175del, NR_104429.1:n.3162_3175del, NR_104429.1:n.3163_3175del, NR_104429.1:n.3164_3175del, NR_104429.1:n.3165_3175del, NR_104429.1:n.3166_3175del, NR_104429.1:n.3167_3175del, NR_104429.1:n.3168_3175del, NR_104429.1:n.3169_3175del, NR_104429.1:n.3170_3175del, NR_104429.1:n.3171_3175del, NR_104429.1:n.3172_3175del, NR_104429.1:n.3173_3175del, NR_104429.1:n.3174_3175del, NR_104429.1:n.3175del, NR_104429.1:n.3175dup, NR_104429.1:n.3174_3175dup, NR_104429.1:n.3173_3175dup, NR_104429.1:n.3172_3175dup, NR_104429.1:n.3171_3175dup, NR_104429.1:n.3170_3175dup, NR_104429.1:n.3169_3175dup, NR_104429.1:n.3168_3175dup, NR_104429.1:n.3167_3175dup, NR_104429.1:n.3165_3175dup, NM_001286360.1:c.*1518_*1538del, NM_001286360.1:c.*1519_*1538del, NM_001286360.1:c.*1520_*1538del, NM_001286360.1:c.*1521_*1538del, NM_001286360.1:c.*1522_*1538del, NM_001286360.1:c.*1523_*1538del, NM_001286360.1:c.*1524_*1538del, NM_001286360.1:c.*1525_*1538del, NM_001286360.1:c.*1526_*1538del, NM_001286360.1:c.*1527_*1538del, NM_001286360.1:c.*1528_*1538del, NM_001286360.1:c.*1529_*1538del, NM_001286360.1:c.*1530_*1538del, NM_001286360.1:c.*1531_*1538del, NM_001286360.1:c.*1532_*1538del, NM_001286360.1:c.*1533_*1538del, NM_001286360.1:c.*1534_*1538del, NM_001286360.1:c.*1535_*1538del, NM_001286360.1:c.*1536_*1538del, NM_001286360.1:c.*1537_*1538del, NM_001286360.1:c.*1538del, NM_001286360.1:c.*1538dup, NM_001286360.1:c.*1537_*1538dup, NM_001286360.1:c.*1536_*1538dup, NM_001286360.1:c.*1535_*1538dup, NM_001286360.1:c.*1534_*1538dup, NM_001286360.1:c.*1533_*1538dup, NM_001286360.1:c.*1532_*1538dup, NM_001286360.1:c.*1531_*1538dup, NM_001286360.1:c.*1530_*1538dup, NM_001286360.1:c.*1528_*1538dup, NM_001286361.1:c.*1622_*1642del, NM_001286361.1:c.*1623_*1642del, NM_001286361.1:c.*1624_*1642del, NM_001286361.1:c.*1625_*1642del, NM_001286361.1:c.*1626_*1642del, NM_001286361.1:c.*1627_*1642del, NM_001286361.1:c.*1628_*1642del, NM_001286361.1:c.*1629_*1642del, NM_001286361.1:c.*1630_*1642del, NM_001286361.1:c.*1631_*1642del, NM_001286361.1:c.*1632_*1642del, NM_001286361.1:c.*1633_*1642del, NM_001286361.1:c.*1634_*1642del, NM_001286361.1:c.*1635_*1642del, NM_001286361.1:c.*1636_*1642del, NM_001286361.1:c.*1637_*1642del, NM_001286361.1:c.*1638_*1642del, NM_001286361.1:c.*1639_*1642del, NM_001286361.1:c.*1640_*1642del, NM_001286361.1:c.*1641_*1642del, NM_001286361.1:c.*1642del, NM_001286361.1:c.*1642dup, NM_001286361.1:c.*1641_*1642dup, NM_001286361.1:c.*1640_*1642dup, NM_001286361.1:c.*1639_*1642dup, NM_001286361.1:c.*1638_*1642dup, NM_001286361.1:c.*1637_*1642dup, NM_001286361.1:c.*1636_*1642dup, NM_001286361.1:c.*1635_*1642dup, NM_001286361.1:c.*1634_*1642dup, NM_001286361.1:c.*1632_*1642dup

Select item 147915038120.

rs1479150381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:109392364 (GRCh38)
6:109713567 (GRCh37)
Canonical SPDI:: NC_000006.12:109392363:T:G
Gene:: PPIL6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.109392364T>G, NC_000006.11:g.109713567T>G, NM_173672.5:c.*462A>C, NM_173672.4:c.*462A>C, NM_001111298.2:c.*462A>C, NR_104429.1:n.2099A>C, NM_001286360.1:c.*462A>C, NM_001286361.1:c.*566A>C

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