SNP Links for Nucleotide (Select 169790831) - SNP

Links from Nucleotide

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Select item 14915396451.

rs1491539645 has merged into rs67522937 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: X:120438707 (GRCh38)
X:119572562 (GRCh37)
Canonical SPDI:: NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
CACA=0.00848/32 (1000Genomes)
-=0.13534/391 (ALSPAC)
HGVS:: NC_000023.11:g.120438693CA[7], NC_000023.11:g.120438693CA[8], NC_000023.11:g.120438693CA[11], NC_000023.11:g.120438693CA[12], NC_000023.11:g.120438693CA[13], NC_000023.11:g.120438693CA[14], NC_000023.11:g.120438693CA[15], NC_000023.11:g.120438693CA[16], NC_000023.11:g.120438693CA[17], NC_000023.11:g.120438693CA[18], NC_000023.11:g.120438693CA[19], NC_000023.11:g.120438693CA[21], NC_000023.11:g.120438693CA[22], NC_000023.11:g.120438693CA[23], NC_000023.11:g.120438693CA[24], NC_000023.11:g.120438693CA[25], NC_000023.11:g.120438693CA[26], NC_000023.10:g.119572548CA[7], NC_000023.10:g.119572548CA[8], NC_000023.10:g.119572548CA[11], NC_000023.10:g.119572548CA[12], NC_000023.10:g.119572548CA[13], NC_000023.10:g.119572548CA[14], NC_000023.10:g.119572548CA[15], NC_000023.10:g.119572548CA[16], NC_000023.10:g.119572548CA[17], NC_000023.10:g.119572548CA[18], NC_000023.10:g.119572548CA[19], NC_000023.10:g.119572548CA[21], NC_000023.10:g.119572548CA[22], NC_000023.10:g.119572548CA[23], NC_000023.10:g.119572548CA[24], NC_000023.10:g.119572548CA[25], NC_000023.10:g.119572548CA[26], NG_007995.1:g.35618TG[7], NG_007995.1:g.35618TG[8], NG_007995.1:g.35618TG[11], NG_007995.1:g.35618TG[12], NG_007995.1:g.35618TG[13], NG_007995.1:g.35618TG[14], NG_007995.1:g.35618TG[15], NG_007995.1:g.35618TG[16], NG_007995.1:g.35618TG[17], NG_007995.1:g.35618TG[18], NG_007995.1:g.35618TG[19], NG_007995.1:g.35618TG[21], NG_007995.1:g.35618TG[22], NG_007995.1:g.35618TG[23], NG_007995.1:g.35618TG[24], NG_007995.1:g.35618TG[25], NG_007995.1:g.35618TG[26], NM_013995.2:c.*422TG[7], NM_013995.2:c.*422TG[8], NM_013995.2:c.*422TG[11], NM_013995.2:c.*422TG[12], NM_013995.2:c.*422TG[13], NM_013995.2:c.*422TG[14], NM_013995.2:c.*422TG[15], NM_013995.2:c.*422TG[16], NM_013995.2:c.*422TG[17], NM_013995.2:c.*422TG[18], NM_013995.2:c.*422TG[19], NM_013995.2:c.*422TG[21], NM_013995.2:c.*422TG[22], NM_013995.2:c.*422TG[23], NM_013995.2:c.*422TG[24], NM_013995.2:c.*422TG[25], NM_013995.2:c.*422TG[26]

Select item 14914253012.

rs1491425301 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: X:120438692 (GRCh38)
X:119572547 (GRCh37)
Canonical SPDI:: NC_000023.11:120438691:TC:
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00073/16 (TOMMO)
HGVS:: NC_000023.11:g.120438692_120438693del, NC_000023.10:g.119572547_119572548del, NG_007995.1:g.35657_35658del, NM_013995.2:c.*461_*462del

Select item 14876413973.

rs1487641397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:120438621 (GRCh38)
X:119572476 (GRCh37)
Canonical SPDI:: NC_000023.11:120438620:C:G
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.120438621C>G, NC_000023.10:g.119572476C>G, NG_007995.1:g.35729G>C, NM_013995.2:c.*533G>C

Select item 14864688484.

rs1486468848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:120436686 (GRCh38)
X:119570541 (GRCh37)
Canonical SPDI:: NC_000023.11:120436685:G:A
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000034/9 (TOPMED)
A=0.000045/1 (TOMMO)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.120436686G>A, NC_000023.10:g.119570541G>A, NG_007995.1:g.37664C>T, NM_013995.2:c.*2468C>T

Select item 14852260905.

rs1485226090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:120437090 (GRCh38)
X:119570945 (GRCh37)
Canonical SPDI:: NC_000023.11:120437089:A:T
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.120437090A>T, NC_000023.10:g.119570945A>T, NG_007995.1:g.37260T>A, NM_013995.2:c.*2064T>A

Select item 14851917086.

rs1485191708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:120441749 (GRCh38)
X:119575604 (GRCh37)
Canonical SPDI:: NC_000023.11:120441748:T:G
Gene:: LAMP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.120441749T>G, NC_000023.10:g.119575604T>G, NG_007995.1:g.32601A>C, NM_002294.3:c.1074A>C, NM_002294.2:c.1074A>C, NM_013995.2:c.1074A>C, NM_001122606.1:c.1074A>C

Select item 14843056087.

rs1484305608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:120437335 (GRCh38)
X:119571190 (GRCh37)
Canonical SPDI:: NC_000023.11:120437334:A:G,NC_000023.11:120437334:A:T
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.120437335A>G, NC_000023.11:g.120437335A>T, NC_000023.10:g.119571190A>G, NC_000023.10:g.119571190A>T, NG_007995.1:g.37015T>C, NG_007995.1:g.37015T>A, NM_013995.2:c.*1819T>C, NM_013995.2:c.*1819T>A

Select item 14831659368.

rs1483165936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:120438999 (GRCh38)
X:119572854 (GRCh37)
Canonical SPDI:: NC_000023.11:120438998:T:C
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.120438999T>C, NC_000023.10:g.119572854T>C, NG_007995.1:g.35351A>G, NM_013995.2:c.*155A>G

Select item 14824690279.

rs1482469027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:120438143 (GRCh38)
X:119571998 (GRCh37)
Canonical SPDI:: NC_000023.11:120438142:C:T
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.120438143C>T, NC_000023.10:g.119571998C>T, NG_007995.1:g.36207G>A, NM_013995.2:c.*1011G>A

Select item 148195206910.

rs1481952069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:120438281 (GRCh38)
X:119572136 (GRCh37)
Canonical SPDI:: NC_000023.11:120438280:A:G
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.120438281A>G, NC_000023.10:g.119572136A>G, NG_007995.1:g.36069T>C, NM_013995.2:c.*873T>C

Select item 148180711211.

rs1481807112 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:120437709 (GRCh38)
X:119571564 (GRCh37)
Canonical SPDI:: NC_000023.11:120437708:G:
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.120437709del, NC_000023.10:g.119571564del, NG_007995.1:g.36641del, NM_013995.2:c.*1445del

Select item 148091404312.

rs1480914043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:120436666 (GRCh38)
X:119570521 (GRCh37)
Canonical SPDI:: NC_000023.11:120436665:C:T
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.120436666C>T, NC_000023.10:g.119570521C>T, NG_007995.1:g.37684G>A, NM_013995.2:c.*2488G>A

Select item 147862808513.

rs1478628085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:120455541 (GRCh38)
X:119589396 (GRCh37)
Canonical SPDI:: NC_000023.11:120455540:A:G
Gene:: LAMP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.120455541A>G, NC_000023.10:g.119589396A>G, NG_007995.1:g.18809T>C, NM_002294.3:c.213T>C, NM_002294.2:c.213T>C, NM_013995.2:c.213T>C, NM_001122606.1:c.213T>C

Select item 147852776814.

rs1478527768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:120436875 (GRCh38)
X:119570730 (GRCh37)
Canonical SPDI:: NC_000023.11:120436874:T:C
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.120436875T>C, NC_000023.10:g.119570730T>C, NG_007995.1:g.37475A>G, NM_013995.2:c.*2279A>G

Select item 147840275915.

rs1478402759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:120469146 (GRCh38)
X:119603001 (GRCh37)
Canonical SPDI:: NC_000023.11:120469145:C:T
Gene:: LAMP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.120469146C>T, NC_000023.10:g.119603001C>T, NG_007995.1:g.5204G>A, NM_002294.3:c.24G>A, NM_002294.2:c.24G>A, NM_013995.2:c.24G>A, NM_001122606.1:c.24G>A

Select item 147775523316.

rs1477755233 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:120438725 (GRCh38)
X:119572580 (GRCh37)
Canonical SPDI:: NC_000023.11:120438724:C:
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.00013/12 (GnomAD)
HGVS:: NC_000023.11:g.120438725del, NC_000023.10:g.119572580del, NG_007995.1:g.35625del, NM_013995.2:c.*429del

Select item 147735047817.

rs1477350478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:120437416 (GRCh38)
X:119571271 (GRCh37)
Canonical SPDI:: NC_000023.11:120437415:A:C
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.120437416A>C, NC_000023.10:g.119571271A>C, NG_007995.1:g.36934T>G, NM_013995.2:c.*1738T>G

Select item 147650803218.

rs1476508032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:120437812 (GRCh38)
X:119571667 (GRCh37)
Canonical SPDI:: NC_000023.11:120437811:C:A,NC_000023.11:120437811:C:T
Gene:: LAMP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.120437812C>A, NC_000023.11:g.120437812C>T, NC_000023.10:g.119571667C>A, NC_000023.10:g.119571667C>T, NG_007995.1:g.36538G>T, NG_007995.1:g.36538G>A, NM_013995.2:c.*1342G>T, NM_013995.2:c.*1342G>A

Select item 147630341919.

rs1476303419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:120441743 (GRCh38)
X:119575598 (GRCh37)
Canonical SPDI:: NC_000023.11:120441742:T:C
Gene:: LAMP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.120441743T>C, NC_000023.10:g.119575598T>C, NG_007995.1:g.32607A>G, NM_002294.3:c.1080A>G, NM_002294.2:c.1080A>G, NM_013995.2:c.1080A>G, NM_001122606.1:c.1080A>G

Select item 147437905120.

rs1474379051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:120447946 (GRCh38)
X:119581801 (GRCh37)
Canonical SPDI:: NC_000023.11:120447945:A:C,NC_000023.11:120447945:A:G
Gene:: LAMP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.120447946A>C, NC_000023.11:g.120447946A>G, NC_000023.10:g.119581801A>C, NC_000023.10:g.119581801A>G, NG_007995.1:g.26404T>G, NG_007995.1:g.26404T>C, NM_002294.3:c.636T>G, NM_002294.3:c.636T>C, NM_002294.2:c.636T>G, NM_002294.2:c.636T>C, NM_013995.2:c.636T>G, NM_013995.2:c.636T>C, NM_001122606.1:c.636T>G, NM_001122606.1:c.636T>C

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