Haplogroup I1 (Y-DNA)
Haplogroup I1 | |
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Wikipedia | soon |
Haplogroup I1 (Y-DNA) represents one of the two branches of Haplogroup I (Y-DNA) as defined by the International Society of Genetic Genealogy (ISOGG) Y-DNA Haplogroup Tree 2010 [1].
Subclade I1 (Haplogroup I1 (Y-DNA)) is found mostly in Northern Europe, while subclade I2 (Haplogroup I2 (Y-DNA)) is the most frequent haplogroup in Eastern Europe and the Balkans. [PMID 18385274]
Haplogroup I1 (Y-DNA) is defined in the ISOGG 2010 by five public mutations (in addition to several private SNP markers). This haplogroup is defined in genoset gs198.
- M253 = rs9341296(T;T)
- M307.1/P203.1 = rs13447354(A;A)
- M450/S109 = rs17316597(A;A)
- P30 = i4000178(A;A)
- P40 = i4000189(T;T)
The ISOGG 2010 chart [2] includes the following subclades for Haplogroup I1 along with the mutations and genosets that define them:
- I1* Negative for other subclades of I1 (Strict: gs210 Loose: gs207)
- I1a M21 = rs3912(T;T) (gs199) -- probably a private SNP according to the ISOGG 2010 chart [3]
- I1b M227 = rs9341274(G;G) (gs200)
- I1c P259 = i4000166(G;G) (gs203) (probably a private SNP)
- I1d L22/S142 = rs34626372(C;C) (gs204)
- I1e S79 (probably a private SNP)
ISOGG 26. April 2014 revision[edit]
On 27 April 2012 SNP Z131/S249 was added on I1 tree upstream of the existing subclades, which are now subclades of I1a1. The haplogroups which can be directly recognized by 23andMe microarray haven't changed, but I1-subclades gained new names, and were re-organized into new branches. I1b M227 is now I1a1a, I1b1 M72 is I1a1a1, I1d L22/S142 is I1a1b and I1d1 P109 is I1a1b1. Private SNP's, found in only genealogically closely linked individuals so far, have been removed from the tree, and individuals in them are now likely in the I1*. Some sources, such as 23andMe, still use older versions of the tree.
Since the haplogroup (phylogenic) tree will likely continue branching at different points as new branching SNP's are discovered, the use of subclade designations, particularly without year reference, is open to considerable confusion. FTDNA has also chosen to diverge from the ISOGG tree. In general it is better to use the general haplogroup, such as I1, and terminal SNP found in leftmost column of the below table instead. Next gen sequencing is making even this classification difficult due to the difficulty of identifying and matching terminal (ie. most recently occurred mutation tested for) SNP's. On 30. April 2014 ISOGG announced changes in their SNP inclusion criteria allowing including SNP's directly from next gen sequencing, and converting to use database which will hopefully make matching subclades easier in the future.
SNP | Haplogroup | Aka | RefSNP | GRCh37 | Mutation |
---|---|---|---|---|---|
CTS5783 | I1 | S63 | rs17307252 | 16478520 | A->G |
CTS11042 | I1 | S66 | rs871626 | 22914378 | T->C |
L64 | I1 | rs17221531 | 9984932 | C->T | |
L75 | I1 | rs111697819 | 19048605 | T->A | |
L80 | I1 | rs35960273 | 14640715 | A->G | |
L81 | I1 | rs3906451 | 22513726 | A->C | |
L118 | I1 | rs17307007 | 15500110 | A->C | |
L121 | I1 | S62 | rs17222167 | 16377198 | A->G |
L123 | I1 | rs17307315 | 16693257 | C->T | |
L124 | I1 | S64 | rs17307586 | 17766762 | T->C |
L125 | I1 | S65 | rs17249791 | 18759669 | T->C |
L157.1 | I1 | rs17222657 | 18562707 | T->A | |
L186 | I1 | 18077293 | A->del | ||
L187 | I1 | 18077297 | A->T | ||
L840 | I1 | rs17250114 | 20834703 | C->G | |
L845 | I1 | S110; YSC0000278 | rs17316639 | 7652844 | T->G |
M253 | I1 | rs9341296 | 15022707 | C->T | |
M307.2 | I1 | P203.2 | rs13447354 | 22750951 | G->A |
M450 | I1 | S109 | rs17316597 | 7548915 | G->A |
P30 | I1 | rs112707890 | 14496753 | G->A | |
P40 | I1 | rs113686221 | 14484394 | C->T | |
P203.2 | I1 | M307.2 | rs13447354 | 22750951 | G->A |
S62 | I1 | L121 | rs17222167 | 16377198 | A->G |
S63 | I1 | CTS5783 | rs17307252 | 16478520 | A->G |
S64 | I1 | L124 | rs17307586 | 17766762 | T->C |
S65 | I1 | L125 | rs17249791 | 18759669 | T->C |
S66 | I1 | CTS11042 | rs871626 | 22914378 | T->C |
S107 | I1 | rs17250310 | 6677619 | A->C | |
S108 | I1 | rs17316192 | 6681479 | A->C | |
S109 | I1 | M450 | rs17316597 | 7548915 | G->A |
S110 | I1 | L845; YSC0000278 | rs17316639 | 7652844 | T->G |
S111 | I1 | Y1868 | rs17316702 | 8108722 | G->A |
Y1868 | I1 | S111 | rs17316702 | 8108722 | G->A |
YSC0000278 | I1 | L845; S110 | rs17316639 | 7652844 | T->G |
DF29 | I1a | S438 | 3626279 | A->G | |
S438 | I1a | DF29 | 3626279 | A->G | |
CTS6364 | I1a1 | Z2336 | 16850779 | A->T | |
Z2336 | I1a1 | CTS6364 | 16850779 | A->T | |
M227 | I1a1a | rs9341274 | 15591446 | C->G | |
M72 | I1a1a1 | rs2032637 | 21894407 | A->G | |
L22 | I1a1b | S142 | rs34626372 | 8576009 | A->C |
S142 | I1a1b | L22 | rs34626372 | 8576009 | A->C |
P109 | I1a1b1 | i4000146 | 15426005 | C->T | |
L205 | I1a1b2 | S239 | 15477744 | A->T | |
S239 | I1a1b2 | L205 | 15477744 | A->T | |
Z74 | I1a1b3 | 8073670 | G->T | ||
L287 | I1a1b3a | 7400134 | G->A | ||
L258 | I1a1b3a1 | S335 | 21892626 | G->A | |
S335 | I1a1b3a1 | L258 | 21892626 | G->A | |
L296 | I1a1b3a1a | 21740189 | G->A | ||
L813 | I1a1b3b | S436; Z719 | 7659777 | A->G | |
S436 | I1a1b3b | L813; Z719 | 7659777 | A->G | |
Z719 | I1a1b3b | L813; S436 | 7659777 | A->G | |
L300 | I1a1b4 | S241 | 21892756 | T->C | |
S241 | I1a1b4 | L300 | 21892756 | T->C | |
S244 | I1a2 | Z58 | 9847423 | T->C | |
Z58 | I1a2 | S244 | 9847423 | T->C | |
S246 | I1a2a | Z59 | 16802360 | G->T | |
Z59 | I1a2a | S246 | 16802360 | G->T | |
S337 | I1a2a1 | Z60 | 18234588 | C->G | |
S439 | I1a2a1 | Z61 | 19329927 | G->T | |
Z60 | I1a2a1 | S337 | 18234588 | C->G | |
Z61 | I1a2a1 | S439 | 19329927 | G->T | |
Z62 | I1a2a1 | 15616741 | C->T | ||
S440 | I1a2a1a | Z140 | 17863355 | G->A | |
Z140 | I1a2a1a | S440 | 17863355 | G->A | |
Z141 | I1a2a1a | 7530813 | A->G | ||
S1953 | I1a2a1a1 | Z2535 | 22142382 | G->T | |
Z2535 | I1a2a1a1 | S1953 | 22142382 | G->T | |
S1954 | I1a2a1a1a | YSC0000261 | 14976484 | C->T | |
YSC0000261 | I1a2a1a1a | S1954 | 14976484 | C->T | |
L338 | I1a2a1a1a1 | 19092598 | C->T | ||
CTS10937 | I1a2a1a1b | S4698; Z2538 | 22844178 | G->T | |
S4698 | I1a2a1a1b | CTS10937; Z2538 | 22844178 | G->T | |
Z2538 | I1a2a1a1b | CTS10937; S4698 | 22844178 | G->T | |
F2642 | I1a2a1a2 | S2169 | 17936279 | G->A | |
S2169 | I1a2a1a2 | F2642 | 17936279 | G->A | |
S247 | I1a2a1b | Z73 | 15224591 | G->A | |
Z73 | I1a2a1b | S247 | 15224591 | G->A | |
L1302 | I1a2a1b1 | 16742479 | A->C | ||
L573 | I1a2a1c | 16020280 | T->C | ||
L1248 | I1a2a1d | 5274925 | A->G | ||
L803 | I1a2a1d1 | 17599534 | T->C | ||
Z382 | I1a2a2 | 3680849 | G->C | ||
S296 | I1a2b | Z138 | 15711340 | C->G | |
S338 | I1a2b | Z139 | 21288655 | G->T | |
Z138 | I1a2b | S296 | 15711340 | C->G | |
Z139 | I1a2b | S338 | 21288655 | G->T | |
Z2540 | I1a2b | 4160142 | C->T | ||
Z2541 | I1a2b1 | 6757722 | G->C | ||
S243 | I1a3 | Z63 | 14401486 | C->T | |
Z63 | I1a3 | S243 | 14401486 | C->T | |
S2078 | I1a3a | 14994820 | C->T | ||
L1237 | I1a3a1 | 21742084 | A->G | ||
S10360 | I1a3a2 | 7570117 | T->C | ||
S15301 | I1a3a2 | 14001162 | G->T | ||
S17023 | I1a3a2 | 15345510 | A->G | ||
S26266 | I1a3a2 | 28497864 | A->T | ||
S249 | I1b | Z131 | 5845252 | G->A | |
Z131 | I1b | S249 | 5845252 | G->A | |
CTS6397 | I1b1 | 16870183 | G->C | ||
CTS7362 | I (Investigation) | S4713; Z2539 | 17443720 | A->G | |
L234 | I (Investigation) | 7647407 | C->A | ||
L242 | I (Investigation) | 21642389 | A->C | ||
L387.2 | I (Investigation) | 3436223 | T->C | ||
L410 | I (Investigation) | 15425754 | G->T | ||
L672 | I (Investigation) | S327 | rs112989530 | 22228628 | T->A |
L673 | I (Investigation) | 16492382 | A->G | ||
L700 | I (Investigation) | 2750000 | T->C | ||
L705.1 | I (Investigation) | S465.1 | 3436215 | G->T | |
L706.1 | I (Investigation) | 3436218 | G->A | ||
L1224 | I (Investigation) | 3436363 | C->T | ||
L1274 | I (Investigation) | 6753377 | G->A | ||
L1275 | I (Investigation) | 23627096 | C->G | ||
P195.2 | I (Investigation) | rs2196155 | 22665262 | A->G | |
S294 | I (Investigation) | Z106 | 9448420 | C->T | |
S297 | I (Investigation) | Z718 | 7352846 | G->A | |
S327 | I (Investigation) | L672 | rs112989530 | 22228628 | T->A |
S336 | I (Investigation) | Z75 | 22216731 | T->A | |
S465.1 | I (Investigation) | L705.1 | 3436215 | G->T | |
S4713 | I (Investigation) | CTS7362; Z2539 | 17443720 | A->G | |
V218.2 | I (Investigation) | rs112137450 | 6662712 | C->T | |
Z75 | I (Investigation) | S336 | 22216731 | T->A | |
Z106 | I (Investigation) | S294 | 9448420 | C->T | |
Z109 | I (Investigation) | 14900533 | C->T | ||
Z112 | I (Investigation) | 16890675 | C->T | ||
Z118 | I (Investigation) | 20834727 | A->G | ||
Z119 | I (Investigation) | 21550809 | T->A | ||
Z124 | I (Investigation) | 22974926 | T->C | ||
Z125 | I (Investigation) | 23007332 | C->G | ||
Z718 | I (Investigation) | S297 | 7352846 | G->A | |
Z2041 | I (Investigation) | 17571016 | T->C | ||
Z2539 | I (Investigation) | CTS7362; S4713 | 17443720 | A->G | |
Page76 | I (Notes) | rs36044179 | 6938665 | A->G | |
Page123 | I (Notes) | 14898383 | G->A | ||
L211 | I (Private) | 15019623 | T->C | ||
L592 | I (Private) | 21674188 | T->G | ||
M21 | I (Private) | rs3912 | 21732339 | A->T | |
M161 | I (Private) | PF4447 | i3000038 | 21717515 | G->T |
M379 | I (Private) | rs2032636- | 15027529..15027530 | GT->del | |
M507 | I (Private) | P259 | i4000166 | 15591474 | T->G |
P259 | I (Private) | M507 | i4000166 | 15591474 | T->G |
PF4447 | I (Private) | M161 | i3000038 | 21717515 | G->T |
S79 | I (Private) | 22914353 | A->G |
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