SNP Links for Nucleotide (Select 427197662) - SNP

Links from Nucleotide

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Select item 14914555751.

rs1491455575 has merged into rs954501705 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:61312518 (GRCh38)
11:61079990 (GRCh37)
Canonical SPDI:: NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61312506:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00344/2 (NorthernSweden)
HGVS:: NC_000011.10:g.61312518_61312526del, NC_000011.10:g.61312520_61312526del, NC_000011.10:g.61312522_61312526del, NC_000011.10:g.61312523_61312526del, NC_000011.10:g.61312524_61312526del, NC_000011.10:g.61312525_61312526del, NC_000011.10:g.61312526del, NC_000011.10:g.61312526dup, NC_000011.10:g.61312525_61312526dup, NC_000011.10:g.61312524_61312526dup, NC_000011.10:g.61312523_61312526dup, NC_000011.10:g.61312522_61312526dup, NC_000011.10:g.61312521_61312526dup, NC_000011.10:g.61312520_61312526dup, NC_000011.10:g.61312526_61312527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.61079990_61079998del, NC_000011.9:g.61079992_61079998del, NC_000011.9:g.61079994_61079998del, NC_000011.9:g.61079995_61079998del, NC_000011.9:g.61079996_61079998del, NC_000011.9:g.61079997_61079998del, NC_000011.9:g.61079998del, NC_000011.9:g.61079998dup, NC_000011.9:g.61079997_61079998dup, NC_000011.9:g.61079996_61079998dup, NC_000011.9:g.61079995_61079998dup, NC_000011.9:g.61079994_61079998dup, NC_000011.9:g.61079993_61079998dup, NC_000011.9:g.61079992_61079998dup, NC_000011.9:g.61079998_61079999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032697.2:g.35082_35090del, NG_032697.2:g.35084_35090del, NG_032697.2:g.35086_35090del, NG_032697.2:g.35087_35090del, NG_032697.2:g.35088_35090del, NG_032697.2:g.35089_35090del, NG_032697.2:g.35090del, NG_032697.2:g.35090dup, NG_032697.2:g.35089_35090dup, NG_032697.2:g.35088_35090dup, NG_032697.2:g.35087_35090dup, NG_032697.2:g.35086_35090dup, NG_032697.2:g.35085_35090dup, NG_032697.2:g.35084_35090dup, NG_032697.2:g.35090_35091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913827382.

rs1491382738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:61345655 (GRCh38)
11:61113128 (GRCh37)
Canonical SPDI:: NC_000011.10:61345655:A:AA
Gene:: TKFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.61345656dup, NC_000011.9:g.61113128dup, NG_032697.2:g.1941dup

Select item 14913664323.

rs1491366432 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:61346348 (GRCh38)
11:61113820 (GRCh37)
Canonical SPDI:: NC_000011.10:61346347:CA:
Gene:: TKFC (Varview)
Functional Consequence:: 3_prime_UTR_variant,splice_acceptor_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000011.10:g.61346348_61346349del, NC_000011.9:g.61113820_61113821del, NG_032697.2:g.1248_1249del, XM_017017520.2:c.*24_*25del, XM_017017520.1:c.*24_*25del, NM_001351980.2:c.*24_*25del, NM_001351980.1:c.*24_*25del, NM_001351979.2:c.*24_*25del, NM_001351979.1:c.*24_*25del, XM_047426733.1:c.*24_*25del, XM_047426734.1:c.*24_*25del, XM_047426735.1:c.*24_*25del

Select item 14913532954.

rs1491353295 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:61344359 (GRCh38)
11:61111831 (GRCh37)
Canonical SPDI:: NC_000011.10:61344358:CT:
Gene:: TKFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0337/125 (TWINSUK)
-=0.0506/195 (ALSPAC)
HGVS:: NC_000011.10:g.61344359_61344360del, NC_000011.9:g.61111831_61111832del, NG_032697.2:g.3237_3238del

Select item 14909983625.

rs1490998362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61318270 (GRCh38)
11:61085742 (GRCh37)
Canonical SPDI:: NC_000011.10:61318269:G:A
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.61318270G>A, NC_000011.9:g.61085742G>A, NG_032697.2:g.29327C>T

Select item 14909862256.

rs1490986225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61301278 (GRCh38)
11:61068750 (GRCh37)
Canonical SPDI:: NC_000011.10:61301277:G:A
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.61301278G>A, NC_000011.9:g.61068750G>A, NG_032697.2:g.46319C>T

Select item 14909427177.

rs1490942717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:61320466 (GRCh38)
11:61087938 (GRCh37)
Canonical SPDI:: NC_000011.10:61320465:G:C
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.61320466G>C, NC_000011.9:g.61087938G>C, NG_032697.2:g.27131C>G

Select item 14909217498.

rs1490921749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61324479 (GRCh38)
11:61091951 (GRCh37)
Canonical SPDI:: NC_000011.10:61324478:A:G
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.61324479A>G, NC_000011.9:g.61091951A>G, NG_032697.2:g.23118T>C

Select item 14908952019.

rs1490895201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61338731 (GRCh38)
11:61106203 (GRCh37)
Canonical SPDI:: NC_000011.10:61338730:C:T
Gene:: TKFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61338731C>T, NC_000011.9:g.61106203C>T, NG_032697.2:g.8866G>A

Select item 149086210310.

rs1490862103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61323319 (GRCh38)
11:61090791 (GRCh37)
Canonical SPDI:: NC_000011.10:61323318:T:C
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61323319T>C, NC_000011.9:g.61090791T>C, NG_032697.2:g.24278A>G

Select item 149080141711.

rs1490801417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:61309812 (GRCh38)
11:61077284 (GRCh37)
Canonical SPDI:: NC_000011.10:61309811:G:C
Gene:: DDB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61309812G>C, NC_000011.9:g.61077284G>C, NG_032697.2:g.37785C>G, NM_001923.5:c.2550C>G, NM_001923.4:c.2550C>G

Select item 149073942212.

rs1490739422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:61345775 (GRCh38)
11:61113247 (GRCh37)
Canonical SPDI:: NC_000011.10:61345774:T:G
Gene:: TKFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61345775T>G, NC_000011.9:g.61113247T>G, NG_032697.2:g.1822A>C

Select item 149071661913.

rs1490716619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61346637 (GRCh38)
11:61114109 (GRCh37)
Canonical SPDI:: NC_000011.10:61346636:G:A
Gene:: TKFC (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000011.10:g.61346637G>A, NC_000011.9:g.61114109G>A, NG_032697.2:g.960C>T, NM_015533.4:c.*134G>A, NM_015533.3:c.*134G>A, XM_017017517.2:c.*134G>A, XM_017017517.1:c.*134G>A, NM_001351976.2:c.*134G>A, NM_001351976.1:c.*134G>A, XM_017017520.2:c.*313G>A, XM_017017520.1:c.*313G>A, NM_001351980.2:c.*313G>A, NM_001351980.1:c.*313G>A, NM_001351979.2:c.*313G>A, NM_001351979.1:c.*313G>A, XM_047426729.1:c.*134G>A, XM_047426733.1:c.*313G>A, XM_047426734.1:c.*313G>A, XM_047426730.1:c.*134G>A, XM_047426735.1:c.*313G>A

Select item 149047221914.

rs1490472219 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 11:61316996 (GRCh38)
11:61084469 (GRCh37)
Canonical SPDI:: NC_000011.10:61316996::GG
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.00008/1 (ALFA)
GG=0.0096/827 (GnomAD)
GG=0.01701/10 (NorthernSweden)
HGVS:: NC_000011.10:g.61316996_61316997insGG, NC_000011.9:g.61084468_61084469insGG, NG_032697.2:g.30600_30601insCC

Select item 149024145815.

rs1490241458 has merged into rs58564398 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 11:61316954 (GRCh38)
11:61084426 (GRCh37)
Canonical SPDI:: NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:61316946:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
HGVS:: NC_000011.10:g.61316948TA[3], NC_000011.10:g.61316948TA[4], NC_000011.10:g.61316948TA[5], NC_000011.10:g.61316948TA[6], NC_000011.10:g.61316948TA[7], NC_000011.10:g.61316948TA[8], NC_000011.10:g.61316948TA[9], NC_000011.10:g.61316948TA[10], NC_000011.10:g.61316948TA[11], NC_000011.10:g.61316948TA[12], NC_000011.10:g.61316948TA[13], NC_000011.10:g.61316948TA[14], NC_000011.10:g.61316948TA[15], NC_000011.10:g.61316948TA[16], NC_000011.10:g.61316948TA[17], NC_000011.10:g.61316948TA[18], NC_000011.10:g.61316948TA[19], NC_000011.10:g.61316948TA[20], NC_000011.10:g.61316948TA[21], NC_000011.10:g.61316948TA[22], NC_000011.10:g.61316948TA[23], NC_000011.10:g.61316948TA[24], NC_000011.10:g.61316948TA[25], NC_000011.10:g.61316948TA[27], NC_000011.10:g.61316948TA[28], NC_000011.10:g.61316948TA[29], NC_000011.10:g.61316948TA[30], NC_000011.10:g.61316948TA[31], NC_000011.10:g.61316948TA[32], NC_000011.10:g.61316948TA[33], NC_000011.10:g.61316948TA[35], NC_000011.10:g.61316948TA[37], NC_000011.9:g.61084420TA[3], NC_000011.9:g.61084420TA[4], NC_000011.9:g.61084420TA[5], NC_000011.9:g.61084420TA[6], NC_000011.9:g.61084420TA[7], NC_000011.9:g.61084420TA[8], NC_000011.9:g.61084420TA[9], NC_000011.9:g.61084420TA[10], NC_000011.9:g.61084420TA[11], NC_000011.9:g.61084420TA[12], NC_000011.9:g.61084420TA[13], NC_000011.9:g.61084420TA[14], NC_000011.9:g.61084420TA[15], NC_000011.9:g.61084420TA[16], NC_000011.9:g.61084420TA[17], NC_000011.9:g.61084420TA[18], NC_000011.9:g.61084420TA[19], NC_000011.9:g.61084420TA[20], NC_000011.9:g.61084420TA[21], NC_000011.9:g.61084420TA[22], NC_000011.9:g.61084420TA[23], NC_000011.9:g.61084420TA[24], NC_000011.9:g.61084420TA[25], NC_000011.9:g.61084420TA[27], NC_000011.9:g.61084420TA[28], NC_000011.9:g.61084420TA[29], NC_000011.9:g.61084420TA[30], NC_000011.9:g.61084420TA[31], NC_000011.9:g.61084420TA[32], NC_000011.9:g.61084420TA[33], NC_000011.9:g.61084420TA[35], NC_000011.9:g.61084420TA[37], NG_032697.2:g.30599AT[3], NG_032697.2:g.30599AT[4], NG_032697.2:g.30599AT[5], NG_032697.2:g.30599AT[6], NG_032697.2:g.30599AT[7], NG_032697.2:g.30599AT[8], NG_032697.2:g.30599AT[9], NG_032697.2:g.30599AT[10], NG_032697.2:g.30599AT[11], NG_032697.2:g.30599AT[12], NG_032697.2:g.30599AT[13], NG_032697.2:g.30599AT[14], NG_032697.2:g.30599AT[15], NG_032697.2:g.30599AT[16], NG_032697.2:g.30599AT[17], NG_032697.2:g.30599AT[18], NG_032697.2:g.30599AT[19], NG_032697.2:g.30599AT[20], NG_032697.2:g.30599AT[21], NG_032697.2:g.30599AT[22], NG_032697.2:g.30599AT[23], NG_032697.2:g.30599AT[24], NG_032697.2:g.30599AT[25], NG_032697.2:g.30599AT[27], NG_032697.2:g.30599AT[28], NG_032697.2:g.30599AT[29], NG_032697.2:g.30599AT[30], NG_032697.2:g.30599AT[31], NG_032697.2:g.30599AT[32], NG_032697.2:g.30599AT[33], NG_032697.2:g.30599AT[35], NG_032697.2:g.30599AT[37]

Select item 149019094916.

rs1490190949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:61334432 (GRCh38)
11:61101904 (GRCh37)
Canonical SPDI:: NC_000011.10:61334431:C:A
Gene:: DDB1 (Varview), TKFC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.61334432C>A, NC_000011.9:g.61101904C>A, NG_032697.2:g.13165G>T, XM_017017519.3:c.-297C>A, XM_017017519.2:c.-297C>A, XM_017017519.1:c.-297C>A, XM_047426729.1:c.-297C>A, XM_047426733.1:c.-297C>A, XM_047426734.1:c.-297C>A, XM_047426731.1:c.-297C>A

Select item 149010352917.

rs1490103529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61324891 (GRCh38)
11:61092363 (GRCh37)
Canonical SPDI:: NC_000011.10:61324890:G:A
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.61324891G>A, NC_000011.9:g.61092363G>A, NG_032697.2:g.22706C>T

Select item 148995199418.

rs1489951994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61340643 (GRCh38)
11:61108115 (GRCh37)
Canonical SPDI:: NC_000011.10:61340642:C:T
Gene:: TKFC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/0 (TOMMO)
T=0.00019/2 (GnomAD)
T=0.00069/2 (KOREAN)
HGVS:: NC_000011.10:g.61340643C>T, NC_000011.9:g.61108115C>T, NG_032697.2:g.6954G>A

Select item 148987691519.

rs1489876915 has merged into rs1387562315 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 11:61330670 (GRCh38)
11:61098142 (GRCh37)
Canonical SPDI:: NC_000011.10:61330669:TTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:61330669:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:61330669:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: DDB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
-=0.00874/56 (1000Genomes)
HGVS:: NC_000011.10:g.61330680del, NC_000011.10:g.61330680dup, NC_000011.10:g.61330679_61330680dup, NC_000011.9:g.61098152del, NC_000011.9:g.61098152dup, NC_000011.9:g.61098151_61098152dup, NG_032697.2:g.16927del, NG_032697.2:g.16927dup, NG_032697.2:g.16926_16927dup

Select item 148981542720.

rs1489815427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61298255 (GRCh38)
11:61065727 (GRCh37)
Canonical SPDI:: NC_000011.10:61298254:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.61298255T>C, NC_000011.9:g.61065727T>C, NG_032697.2:g.49342A>G

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